Incidental Mutation 'R4784:Clip1'
ID |
366818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clip1
|
Ensembl Gene |
ENSMUSG00000049550 |
Gene Name |
CAP-GLY domain containing linker protein 1 |
Synonyms |
Rsn, CLIP-170, 4631429H07Rik, restin, Clip 170, 1110007I12Rik, Clip50, cytoplasmic linker protein 50 |
MMRRC Submission |
041994-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4784 (G1)
|
Quality Score |
208 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
123715857-123822527 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123717356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1387
(D1387G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031382]
[ENSMUST00000063905]
[ENSMUST00000111561]
[ENSMUST00000111564]
[ENSMUST00000111566]
|
AlphaFold |
Q922J3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031382
AA Change: D1433G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031382 Gene: ENSMUSG00000049550 AA Change: D1433G
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
2.28e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
2.28e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
451 |
N/A |
INTRINSIC |
coiled coil region
|
474 |
535 |
N/A |
INTRINSIC |
coiled coil region
|
581 |
620 |
N/A |
INTRINSIC |
coiled coil region
|
652 |
1352 |
N/A |
INTRINSIC |
low complexity region
|
1362 |
1373 |
N/A |
INTRINSIC |
Pfam:CLIP1_ZNF
|
1375 |
1392 |
5.8e-9 |
PFAM |
ZnF_C2HC
|
1417 |
1433 |
1.45e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063905
AA Change: D1316G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068241 Gene: ENSMUSG00000049550 AA Change: D1316G
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
3.3e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
3.3e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
524 |
N/A |
INTRINSIC |
coiled coil region
|
570 |
609 |
N/A |
INTRINSIC |
coiled coil region
|
641 |
1075 |
N/A |
INTRINSIC |
coiled coil region
|
1115 |
1235 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1256 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1300 |
1316 |
1.45e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111561
AA Change: D1422G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107186 Gene: ENSMUSG00000049550 AA Change: D1422G
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
1.93e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
1.93e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
524 |
N/A |
INTRINSIC |
coiled coil region
|
570 |
609 |
N/A |
INTRINSIC |
coiled coil region
|
641 |
1341 |
N/A |
INTRINSIC |
low complexity region
|
1351 |
1362 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1406 |
1422 |
1.45e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111564
AA Change: D1311G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000107190 Gene: ENSMUSG00000049550 AA Change: D1311G
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
2.5e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
2.5e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
489 |
N/A |
INTRINSIC |
coiled coil region
|
535 |
574 |
N/A |
INTRINSIC |
coiled coil region
|
606 |
1230 |
N/A |
INTRINSIC |
low complexity region
|
1240 |
1251 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1295 |
1311 |
1.45e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111566
AA Change: D1387G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107192 Gene: ENSMUSG00000049550 AA Change: D1387G
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
2e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
2e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
489 |
N/A |
INTRINSIC |
coiled coil region
|
535 |
574 |
N/A |
INTRINSIC |
coiled coil region
|
606 |
1306 |
N/A |
INTRINSIC |
low complexity region
|
1316 |
1327 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1371 |
1387 |
1.45e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137602
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137363
AA Change: D1061G
|
SMART Domains |
Protein: ENSMUSP00000121425 Gene: ENSMUSG00000049550 AA Change: D1061G
Domain | Start | End | E-Value | Type |
CAP_GLY
|
2 |
31 |
2.59e0 |
SMART |
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
low complexity region
|
58 |
84 |
N/A |
INTRINSIC |
coiled coil region
|
101 |
276 |
N/A |
INTRINSIC |
coiled coil region
|
322 |
361 |
N/A |
INTRINSIC |
coiled coil region
|
393 |
980 |
N/A |
INTRINSIC |
low complexity region
|
991 |
1002 |
N/A |
INTRINSIC |
Pfam:CLIP1_ZNF
|
1004 |
1021 |
4.2e-9 |
PFAM |
ZnF_C2HC
|
1046 |
1062 |
1.45e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198833
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154672
|
SMART Domains |
Protein: ENSMUSP00000122064 Gene: ENSMUSG00000049550
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
low complexity region
|
165 |
176 |
N/A |
INTRINSIC |
internal_repeat_1
|
352 |
375 |
1.56e-8 |
PROSPERO |
internal_repeat_3
|
358 |
377 |
5.32e-6 |
PROSPERO |
internal_repeat_1
|
450 |
473 |
1.56e-8 |
PROSPERO |
internal_repeat_3
|
544 |
563 |
5.32e-6 |
PROSPERO |
internal_repeat_2
|
553 |
575 |
2.88e-7 |
PROSPERO |
low complexity region
|
735 |
744 |
N/A |
INTRINSIC |
internal_repeat_2
|
781 |
803 |
2.88e-7 |
PROSPERO |
low complexity region
|
819 |
830 |
N/A |
INTRINSIC |
low complexity region
|
962 |
977 |
N/A |
INTRINSIC |
low complexity region
|
1081 |
1099 |
N/A |
INTRINSIC |
low complexity region
|
1110 |
1121 |
N/A |
INTRINSIC |
low complexity region
|
1164 |
1175 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 106 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1a |
T |
A |
14: 66,875,273 (GRCm39) |
S83T |
probably damaging |
Het |
Aff1 |
T |
A |
5: 103,994,905 (GRCm39) |
Y1034* |
probably null |
Het |
Ago3 |
A |
T |
4: 126,262,296 (GRCm39) |
M418K |
probably benign |
Het |
Alpk1 |
G |
T |
3: 127,481,241 (GRCm39) |
N175K |
possibly damaging |
Het |
Als2 |
A |
G |
1: 59,254,472 (GRCm39) |
V295A |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,040,949 (GRCm39) |
D67G |
probably damaging |
Het |
Arhgap32 |
T |
C |
9: 32,172,076 (GRCm39) |
C1619R |
probably damaging |
Het |
Asns |
T |
G |
6: 7,678,029 (GRCm39) |
K350Q |
probably benign |
Het |
Atp8b5 |
A |
T |
4: 43,356,980 (GRCm39) |
D576V |
probably damaging |
Het |
Atrnl1 |
A |
G |
19: 57,617,590 (GRCm39) |
I122V |
probably damaging |
Het |
Baz1b |
T |
G |
5: 135,246,267 (GRCm39) |
L572R |
possibly damaging |
Het |
C4b |
T |
C |
17: 34,952,380 (GRCm39) |
T1220A |
probably benign |
Het |
Carmil3 |
T |
C |
14: 55,738,778 (GRCm39) |
|
probably null |
Het |
Ccndbp1 |
A |
T |
2: 120,839,003 (GRCm39) |
T5S |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,681,430 (GRCm39) |
V16A |
probably damaging |
Het |
Chd8 |
C |
A |
14: 52,442,825 (GRCm39) |
C575F |
probably damaging |
Het |
Chrna10 |
G |
A |
7: 101,762,426 (GRCm39) |
P255S |
possibly damaging |
Het |
Col12a1 |
C |
A |
9: 79,585,776 (GRCm39) |
V1228F |
possibly damaging |
Het |
Cxcr5 |
T |
C |
9: 44,424,638 (GRCm39) |
T340A |
probably benign |
Het |
Cyp2e1 |
G |
A |
7: 140,343,821 (GRCm39) |
V20I |
possibly damaging |
Het |
Dchs1 |
A |
G |
7: 105,415,133 (GRCm39) |
Y684H |
probably damaging |
Het |
Dcun1d3 |
T |
C |
7: 119,456,887 (GRCm39) |
E275G |
probably damaging |
Het |
Dgcr8 |
G |
A |
16: 18,076,174 (GRCm39) |
R4* |
probably null |
Het |
Dglucy |
A |
T |
12: 100,804,923 (GRCm39) |
D168V |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 30,985,436 (GRCm39) |
K3818N |
probably damaging |
Het |
Dnajc17 |
T |
C |
2: 119,009,909 (GRCm39) |
D239G |
probably benign |
Het |
Dok2 |
C |
T |
14: 71,015,314 (GRCm39) |
P347L |
probably benign |
Het |
Elavl2 |
T |
C |
4: 91,142,379 (GRCm39) |
R265G |
probably null |
Het |
Elf1 |
T |
A |
14: 79,818,183 (GRCm39) |
N567K |
probably benign |
Het |
Epha8 |
A |
T |
4: 136,660,633 (GRCm39) |
I695N |
probably damaging |
Het |
Fam178b |
C |
A |
1: 36,671,496 (GRCm39) |
|
probably null |
Het |
Fam76a |
A |
T |
4: 132,629,428 (GRCm39) |
|
probably null |
Het |
Fam76a |
A |
G |
4: 132,643,501 (GRCm39) |
Y78H |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,166,839 (GRCm39) |
C2026S |
probably damaging |
Het |
Fbxo4 |
T |
C |
15: 3,998,523 (GRCm39) |
T312A |
probably benign |
Het |
Fscn2 |
T |
C |
11: 120,258,813 (GRCm39) |
F453L |
possibly damaging |
Het |
Gabrb2 |
T |
C |
11: 42,488,469 (GRCm39) |
C312R |
probably damaging |
Het |
Gba2 |
A |
C |
4: 43,568,315 (GRCm39) |
L684R |
probably damaging |
Het |
Golga2 |
T |
A |
2: 32,187,168 (GRCm39) |
N89K |
probably damaging |
Het |
Gpx6 |
C |
T |
13: 21,496,434 (GRCm39) |
Q3* |
probably null |
Het |
Grin1 |
T |
A |
2: 25,182,393 (GRCm39) |
H956L |
possibly damaging |
Het |
H2-Q7 |
T |
G |
17: 35,658,914 (GRCm39) |
C122G |
probably damaging |
Het |
Hcar2 |
C |
G |
5: 124,002,513 (GRCm39) |
G330A |
probably benign |
Het |
Hes3 |
A |
G |
4: 152,372,289 (GRCm39) |
S37P |
probably damaging |
Het |
Hs3st3b1 |
T |
C |
11: 63,780,086 (GRCm39) |
H347R |
probably benign |
Het |
Il1rl1 |
A |
G |
1: 40,489,348 (GRCm39) |
R367G |
probably damaging |
Het |
Kcnc1 |
G |
T |
7: 46,086,711 (GRCm39) |
S570I |
probably benign |
Het |
Kctd3 |
T |
C |
1: 188,706,665 (GRCm39) |
I523M |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kntc1 |
T |
G |
5: 123,954,825 (GRCm39) |
M2081R |
possibly damaging |
Het |
Krt87 |
A |
G |
15: 101,385,837 (GRCm39) |
S253P |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,930,953 (GRCm39) |
|
probably null |
Het |
Lair1 |
T |
A |
7: 4,012,731 (GRCm39) |
M251L |
probably benign |
Het |
Lama3 |
A |
T |
18: 12,582,601 (GRCm39) |
H631L |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,107,486 (GRCm39) |
N1231S |
probably damaging |
Het |
Lin54 |
A |
G |
5: 100,607,597 (GRCm39) |
I250T |
probably damaging |
Het |
Lrit1 |
C |
T |
14: 36,784,193 (GRCm39) |
T507M |
possibly damaging |
Het |
Lrp11 |
A |
G |
10: 7,479,965 (GRCm39) |
H345R |
possibly damaging |
Het |
Lrp6 |
A |
C |
6: 134,456,502 (GRCm39) |
S921A |
probably benign |
Het |
Lrrc27 |
A |
G |
7: 138,822,614 (GRCm39) |
T502A |
probably benign |
Het |
Marf1 |
A |
C |
16: 13,970,321 (GRCm39) |
S133A |
probably benign |
Het |
Mga |
C |
T |
2: 119,733,538 (GRCm39) |
P129S |
probably damaging |
Het |
Mgat4e |
T |
C |
1: 134,469,063 (GRCm39) |
N327S |
probably damaging |
Het |
Mlh1 |
A |
G |
9: 111,068,866 (GRCm39) |
Y499H |
probably benign |
Het |
Mrgpra1 |
A |
G |
7: 46,985,218 (GRCm39) |
S154P |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,498,660 (GRCm39) |
I919V |
possibly damaging |
Het |
Naalad2 |
T |
C |
9: 18,262,214 (GRCm39) |
R442G |
probably damaging |
Het |
Nat8f4 |
T |
C |
6: 85,878,481 (GRCm39) |
H14R |
probably benign |
Het |
Nav1 |
A |
G |
1: 135,386,477 (GRCm39) |
S1184P |
probably damaging |
Het |
Nckap1 |
T |
A |
2: 80,337,278 (GRCm39) |
N986I |
probably benign |
Het |
Ndufaf2 |
C |
G |
13: 108,189,314 (GRCm39) |
A145P |
probably damaging |
Het |
Nop9 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
14: 55,983,859 (GRCm39) |
|
probably benign |
Het |
Nphp4 |
G |
A |
4: 152,639,003 (GRCm39) |
R878K |
probably benign |
Het |
Nutm1 |
G |
A |
2: 112,079,281 (GRCm39) |
A878V |
probably benign |
Het |
Or4f56 |
A |
T |
2: 111,703,395 (GRCm39) |
D268E |
possibly damaging |
Het |
Or52e8b |
A |
C |
7: 104,673,737 (GRCm39) |
I150S |
probably damaging |
Het |
Or5k1b |
G |
T |
16: 58,580,911 (GRCm39) |
F209L |
probably damaging |
Het |
Orc6 |
T |
A |
8: 86,029,579 (GRCm39) |
I41K |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,307,005 (GRCm39) |
T1798A |
probably benign |
Het |
Ppp1r14a |
A |
T |
7: 28,991,486 (GRCm39) |
E98V |
possibly damaging |
Het |
Prpf8 |
T |
A |
11: 75,383,331 (GRCm39) |
D521E |
probably damaging |
Het |
Pudp |
A |
G |
18: 50,701,136 (GRCm39) |
V199A |
probably damaging |
Het |
Rab3c |
T |
C |
13: 110,198,434 (GRCm39) |
E198G |
probably benign |
Het |
Ramac |
T |
A |
7: 81,418,163 (GRCm39) |
W73R |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,812,196 (GRCm39) |
Y255C |
probably damaging |
Het |
Rbm12 |
T |
C |
2: 155,938,484 (GRCm39) |
D596G |
possibly damaging |
Het |
Sipa1l3 |
A |
G |
7: 29,077,066 (GRCm39) |
V902A |
probably damaging |
Het |
Slc37a3 |
T |
G |
6: 39,314,157 (GRCm39) |
Q485P |
probably benign |
Het |
Slc44a3 |
T |
C |
3: 121,320,723 (GRCm39) |
T93A |
possibly damaging |
Het |
Slc66a1 |
G |
T |
4: 139,027,312 (GRCm39) |
H343Q |
probably benign |
Het |
Sun3 |
G |
A |
11: 8,988,266 (GRCm39) |
L19F |
probably benign |
Het |
Tas2r125 |
A |
G |
6: 132,886,866 (GRCm39) |
I85V |
probably benign |
Het |
Tenm4 |
A |
C |
7: 96,423,253 (GRCm39) |
K683Q |
probably damaging |
Het |
Tmprss11d |
C |
T |
5: 86,454,140 (GRCm39) |
V222M |
probably damaging |
Het |
Tnip1 |
A |
C |
11: 54,806,365 (GRCm39) |
S570A |
possibly damaging |
Het |
Top1mt |
G |
A |
15: 75,529,552 (GRCm39) |
P554S |
probably damaging |
Het |
Top1mt |
A |
G |
15: 75,547,880 (GRCm39) |
F69L |
possibly damaging |
Het |
Ttc7 |
A |
G |
17: 87,648,325 (GRCm39) |
K508R |
probably benign |
Het |
Ttll4 |
A |
T |
1: 74,718,166 (GRCm39) |
T6S |
possibly damaging |
Het |
Xpo5 |
T |
C |
17: 46,533,643 (GRCm39) |
Y500H |
possibly damaging |
Het |
Xpot |
C |
T |
10: 121,450,968 (GRCm39) |
|
probably null |
Het |
Zbbx |
T |
C |
3: 74,992,348 (GRCm39) |
I268V |
probably benign |
Het |
Zbtb40 |
G |
A |
4: 136,734,408 (GRCm39) |
P360S |
probably damaging |
Het |
Zfp324 |
T |
C |
7: 12,705,233 (GRCm39) |
L474P |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,817,186 (GRCm39) |
T9A |
probably benign |
Het |
Zfp692 |
A |
C |
11: 58,200,997 (GRCm39) |
S293R |
probably null |
Het |
|
Other mutations in Clip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00159:Clip1
|
APN |
5 |
123,741,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01067:Clip1
|
APN |
5 |
123,768,867 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01524:Clip1
|
APN |
5 |
123,717,442 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01632:Clip1
|
APN |
5 |
123,755,559 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01798:Clip1
|
APN |
5 |
123,721,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01874:Clip1
|
APN |
5 |
123,741,729 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01908:Clip1
|
APN |
5 |
123,761,270 (GRCm39) |
splice site |
probably benign |
|
IGL02120:Clip1
|
APN |
5 |
123,785,946 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02309:Clip1
|
APN |
5 |
123,755,763 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02555:Clip1
|
APN |
5 |
123,759,857 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03027:Clip1
|
APN |
5 |
123,759,919 (GRCm39) |
missense |
probably benign |
0.43 |
IGL03336:Clip1
|
APN |
5 |
123,791,633 (GRCm39) |
nonsense |
probably null |
|
IGL03365:Clip1
|
APN |
5 |
123,721,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02802:Clip1
|
UTSW |
5 |
123,769,186 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4812001:Clip1
|
UTSW |
5 |
123,768,738 (GRCm39) |
missense |
probably benign |
0.08 |
R0254:Clip1
|
UTSW |
5 |
123,755,395 (GRCm39) |
splice site |
probably benign |
|
R0401:Clip1
|
UTSW |
5 |
123,791,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0530:Clip1
|
UTSW |
5 |
123,778,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R0744:Clip1
|
UTSW |
5 |
123,768,784 (GRCm39) |
missense |
probably benign |
0.05 |
R0833:Clip1
|
UTSW |
5 |
123,768,784 (GRCm39) |
missense |
probably benign |
0.05 |
R1116:Clip1
|
UTSW |
5 |
123,717,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R1182:Clip1
|
UTSW |
5 |
123,785,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R1656:Clip1
|
UTSW |
5 |
123,768,466 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1700:Clip1
|
UTSW |
5 |
123,768,433 (GRCm39) |
missense |
probably benign |
|
R1889:Clip1
|
UTSW |
5 |
123,791,559 (GRCm39) |
missense |
probably damaging |
0.99 |
R1975:Clip1
|
UTSW |
5 |
123,761,281 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2406:Clip1
|
UTSW |
5 |
123,741,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R3545:Clip1
|
UTSW |
5 |
123,769,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R3547:Clip1
|
UTSW |
5 |
123,769,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R3548:Clip1
|
UTSW |
5 |
123,769,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R3911:Clip1
|
UTSW |
5 |
123,728,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R3944:Clip1
|
UTSW |
5 |
123,755,892 (GRCm39) |
unclassified |
probably benign |
|
R4660:Clip1
|
UTSW |
5 |
123,717,437 (GRCm39) |
missense |
probably damaging |
0.98 |
R4785:Clip1
|
UTSW |
5 |
123,717,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R4824:Clip1
|
UTSW |
5 |
123,769,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Clip1
|
UTSW |
5 |
123,721,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R4951:Clip1
|
UTSW |
5 |
123,768,408 (GRCm39) |
missense |
probably benign |
0.02 |
R4960:Clip1
|
UTSW |
5 |
123,792,066 (GRCm39) |
nonsense |
probably null |
|
R5014:Clip1
|
UTSW |
5 |
123,755,793 (GRCm39) |
missense |
probably damaging |
0.99 |
R5116:Clip1
|
UTSW |
5 |
123,768,770 (GRCm39) |
missense |
probably benign |
0.05 |
R5212:Clip1
|
UTSW |
5 |
123,768,744 (GRCm39) |
missense |
probably benign |
0.09 |
R5238:Clip1
|
UTSW |
5 |
123,785,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R5318:Clip1
|
UTSW |
5 |
123,751,147 (GRCm39) |
unclassified |
probably benign |
|
R5372:Clip1
|
UTSW |
5 |
123,768,303 (GRCm39) |
missense |
probably benign |
0.02 |
R5701:Clip1
|
UTSW |
5 |
123,751,366 (GRCm39) |
unclassified |
probably benign |
|
R5734:Clip1
|
UTSW |
5 |
123,753,217 (GRCm39) |
unclassified |
probably benign |
|
R5757:Clip1
|
UTSW |
5 |
123,765,460 (GRCm39) |
missense |
probably benign |
0.21 |
R6024:Clip1
|
UTSW |
5 |
123,753,152 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6160:Clip1
|
UTSW |
5 |
123,751,604 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6177:Clip1
|
UTSW |
5 |
123,751,897 (GRCm39) |
unclassified |
probably benign |
|
R6183:Clip1
|
UTSW |
5 |
123,780,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R6377:Clip1
|
UTSW |
5 |
123,741,717 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6436:Clip1
|
UTSW |
5 |
123,779,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R6471:Clip1
|
UTSW |
5 |
123,778,612 (GRCm39) |
missense |
probably damaging |
0.99 |
R6766:Clip1
|
UTSW |
5 |
123,752,827 (GRCm39) |
unclassified |
probably benign |
|
R7015:Clip1
|
UTSW |
5 |
123,751,675 (GRCm39) |
unclassified |
probably benign |
|
R7094:Clip1
|
UTSW |
5 |
123,761,333 (GRCm39) |
missense |
probably benign |
0.02 |
R7143:Clip1
|
UTSW |
5 |
123,791,673 (GRCm39) |
missense |
probably benign |
|
R7222:Clip1
|
UTSW |
5 |
123,749,904 (GRCm39) |
missense |
probably damaging |
0.99 |
R7233:Clip1
|
UTSW |
5 |
123,749,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R7238:Clip1
|
UTSW |
5 |
123,751,328 (GRCm39) |
missense |
|
|
R7249:Clip1
|
UTSW |
5 |
123,741,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R7283:Clip1
|
UTSW |
5 |
123,751,857 (GRCm39) |
missense |
|
|
R7295:Clip1
|
UTSW |
5 |
123,765,419 (GRCm39) |
missense |
probably benign |
0.19 |
R7447:Clip1
|
UTSW |
5 |
123,791,696 (GRCm39) |
missense |
probably benign |
0.03 |
R7458:Clip1
|
UTSW |
5 |
123,778,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Clip1
|
UTSW |
5 |
123,755,447 (GRCm39) |
missense |
probably benign |
0.00 |
R7516:Clip1
|
UTSW |
5 |
123,721,448 (GRCm39) |
missense |
probably benign |
0.00 |
R7619:Clip1
|
UTSW |
5 |
123,752,342 (GRCm39) |
missense |
|
|
R7831:Clip1
|
UTSW |
5 |
123,751,342 (GRCm39) |
missense |
|
|
R7897:Clip1
|
UTSW |
5 |
123,760,861 (GRCm39) |
missense |
probably benign |
|
R8155:Clip1
|
UTSW |
5 |
123,751,699 (GRCm39) |
missense |
|
|
R8157:Clip1
|
UTSW |
5 |
123,768,782 (GRCm39) |
missense |
probably benign |
0.17 |
R8232:Clip1
|
UTSW |
5 |
123,785,981 (GRCm39) |
missense |
probably benign |
0.05 |
R8396:Clip1
|
UTSW |
5 |
123,780,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R8446:Clip1
|
UTSW |
5 |
123,794,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R8486:Clip1
|
UTSW |
5 |
123,752,770 (GRCm39) |
unclassified |
probably benign |
|
R8511:Clip1
|
UTSW |
5 |
123,791,969 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8731:Clip1
|
UTSW |
5 |
123,752,756 (GRCm39) |
missense |
|
|
R8889:Clip1
|
UTSW |
5 |
123,717,565 (GRCm39) |
missense |
probably benign |
0.00 |
R8892:Clip1
|
UTSW |
5 |
123,717,565 (GRCm39) |
missense |
probably benign |
0.00 |
R9058:Clip1
|
UTSW |
5 |
123,752,645 (GRCm39) |
missense |
|
|
R9106:Clip1
|
UTSW |
5 |
123,753,223 (GRCm39) |
missense |
probably damaging |
0.97 |
R9212:Clip1
|
UTSW |
5 |
123,721,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R9217:Clip1
|
UTSW |
5 |
123,717,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R9223:Clip1
|
UTSW |
5 |
123,784,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R9325:Clip1
|
UTSW |
5 |
123,751,186 (GRCm39) |
missense |
|
|
R9752:Clip1
|
UTSW |
5 |
123,760,009 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Clip1
|
UTSW |
5 |
123,755,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCCTGGTACAATGTCTTAAACC -3'
(R):5'- CTTCTGTGACATCTGTGACTGC -3'
Sequencing Primer
(F):5'- CGGAAGTGCAAGCCCAC -3'
(R):5'- TGCTTTGACCTCCACGATACAGAG -3'
|
Posted On |
2015-12-29 |