Incidental Mutation 'IGL01524:Clip1'
ID |
89503 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clip1
|
Ensembl Gene |
ENSMUSG00000049550 |
Gene Name |
CAP-GLY domain containing linker protein 1 |
Synonyms |
Clip50, 4631429H07Rik, CLIP-170, restin, Rsn, Clip 170, 1110007I12Rik, cytoplasmic linker protein 50 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01524
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
123577795-123684618 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 123579379 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 1282
(H1282Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031382]
[ENSMUST00000063905]
[ENSMUST00000111561]
[ENSMUST00000111564]
[ENSMUST00000111566]
|
AlphaFold |
Q922J3 |
PDB Structure |
Solution structure of the 1st CAP-Gly domain in mouse CLIP-170/restin [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031382
AA Change: H1404Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031382 Gene: ENSMUSG00000049550 AA Change: H1404Q
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: H1287Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068241 Gene: ENSMUSG00000049550 AA Change: H1287Q
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: H1393Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107186 Gene: ENSMUSG00000049550 AA Change: H1393Q
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 |
probably damaging
Transcript: ENSMUST00000111564
AA Change: H1282Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107190 Gene: ENSMUSG00000049550 AA Change: H1282Q
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: H1358Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107192 Gene: ENSMUSG00000049550 AA Change: H1358Q
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 |
unknown
Transcript: ENSMUST00000137363
AA Change: H1032Q
|
SMART Domains |
Protein: ENSMUSP00000121425 Gene: ENSMUSG00000049550 AA Change: H1032Q
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: ENSMUST00000137602
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198833
|
Coding Region Coverage |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438A13Rik |
A |
G |
3: 36,942,382 |
D1081G |
possibly damaging |
Het |
Aadat |
A |
T |
8: 60,516,072 |
D117V |
probably damaging |
Het |
Abca14 |
T |
C |
7: 120,253,421 |
Y870H |
possibly damaging |
Het |
Ankrd36 |
T |
C |
11: 5,635,092 |
I301T |
probably benign |
Het |
Atp10b |
T |
A |
11: 43,259,845 |
S1457T |
probably benign |
Het |
Ccdc175 |
G |
A |
12: 72,131,142 |
|
probably benign |
Het |
Ccdc93 |
A |
G |
1: 121,461,899 |
K224E |
probably benign |
Het |
Cep131 |
C |
T |
11: 120,065,960 |
A886T |
probably damaging |
Het |
Ctcfl |
T |
G |
2: 173,117,384 |
D183A |
probably benign |
Het |
Cyp17a1 |
C |
T |
19: 46,671,056 |
V112I |
probably benign |
Het |
D3Ertd254e |
T |
C |
3: 36,164,580 |
Y251H |
possibly damaging |
Het |
Fhod3 |
T |
C |
18: 25,130,602 |
I1521T |
probably damaging |
Het |
Gipc2 |
A |
G |
3: 152,137,577 |
I141T |
probably damaging |
Het |
Glo1 |
T |
C |
17: 30,596,419 |
R141G |
possibly damaging |
Het |
Ipmk |
C |
A |
10: 71,372,801 |
A140E |
probably damaging |
Het |
Kynu |
A |
G |
2: 43,671,382 |
D310G |
possibly damaging |
Het |
Myo1f |
T |
A |
17: 33,579,883 |
I174N |
probably damaging |
Het |
Nat10 |
T |
A |
2: 103,757,757 |
N8Y |
probably damaging |
Het |
Nhlrc2 |
A |
G |
19: 56,576,155 |
I304V |
probably benign |
Het |
Pdk4 |
T |
C |
6: 5,491,979 |
H31R |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,664,075 |
V644A |
possibly damaging |
Het |
Slc30a4 |
T |
A |
2: 122,702,388 |
K11N |
possibly damaging |
Het |
Slc6a3 |
T |
C |
13: 73,538,549 |
S12P |
probably benign |
Het |
Spats2 |
C |
T |
15: 99,212,246 |
A508V |
probably benign |
Het |
Tinag |
A |
G |
9: 77,045,538 |
Y55H |
probably damaging |
Het |
Topbp1 |
T |
C |
9: 103,311,645 |
I172T |
possibly damaging |
Het |
Trim17 |
A |
G |
11: 58,970,597 |
T279A |
probably damaging |
Het |
Vmn1r216 |
C |
A |
13: 23,099,349 |
N67K |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,576,132 |
L709P |
probably benign |
Het |
Xdh |
T |
C |
17: 73,923,137 |
|
probably null |
Het |
Zfhx4 |
C |
T |
3: 5,243,976 |
P754L |
probably damaging |
Het |
Zfp623 |
C |
A |
15: 75,947,679 |
S161R |
probably benign |
Het |
Zmat3 |
G |
A |
3: 32,341,678 |
R227C |
possibly damaging |
Het |
|
Other mutations in Clip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00159:Clip1
|
APN |
5 |
123603654 |
missense |
possibly damaging |
0.94 |
IGL01067:Clip1
|
APN |
5 |
123630804 |
missense |
probably damaging |
0.99 |
IGL01632:Clip1
|
APN |
5 |
123617496 |
missense |
probably damaging |
1.00 |
IGL01798:Clip1
|
APN |
5 |
123583549 |
missense |
probably damaging |
1.00 |
IGL01874:Clip1
|
APN |
5 |
123603666 |
missense |
possibly damaging |
0.50 |
IGL01908:Clip1
|
APN |
5 |
123623207 |
splice site |
probably benign |
|
IGL02120:Clip1
|
APN |
5 |
123647883 |
missense |
probably damaging |
1.00 |
IGL02309:Clip1
|
APN |
5 |
123617700 |
missense |
probably damaging |
0.99 |
IGL02555:Clip1
|
APN |
5 |
123621794 |
critical splice donor site |
probably null |
|
IGL03027:Clip1
|
APN |
5 |
123621856 |
missense |
probably benign |
0.43 |
IGL03336:Clip1
|
APN |
5 |
123653570 |
nonsense |
probably null |
|
IGL03365:Clip1
|
APN |
5 |
123583586 |
missense |
probably damaging |
1.00 |
IGL02802:Clip1
|
UTSW |
5 |
123631123 |
missense |
probably damaging |
1.00 |
PIT4812001:Clip1
|
UTSW |
5 |
123630675 |
missense |
probably benign |
0.08 |
R0254:Clip1
|
UTSW |
5 |
123617332 |
splice site |
probably benign |
|
R0401:Clip1
|
UTSW |
5 |
123653789 |
missense |
probably damaging |
1.00 |
R0530:Clip1
|
UTSW |
5 |
123640531 |
missense |
probably damaging |
1.00 |
R0744:Clip1
|
UTSW |
5 |
123630721 |
missense |
probably benign |
0.05 |
R0833:Clip1
|
UTSW |
5 |
123630721 |
missense |
probably benign |
0.05 |
R1116:Clip1
|
UTSW |
5 |
123579491 |
missense |
probably damaging |
0.99 |
R1182:Clip1
|
UTSW |
5 |
123647865 |
missense |
probably damaging |
1.00 |
R1656:Clip1
|
UTSW |
5 |
123630403 |
missense |
possibly damaging |
0.61 |
R1700:Clip1
|
UTSW |
5 |
123630370 |
missense |
probably benign |
|
R1889:Clip1
|
UTSW |
5 |
123653496 |
missense |
probably damaging |
0.99 |
R1975:Clip1
|
UTSW |
5 |
123623218 |
missense |
possibly damaging |
0.79 |
R2406:Clip1
|
UTSW |
5 |
123603660 |
missense |
probably damaging |
1.00 |
R3545:Clip1
|
UTSW |
5 |
123631078 |
missense |
probably damaging |
1.00 |
R3547:Clip1
|
UTSW |
5 |
123631078 |
missense |
probably damaging |
1.00 |
R3548:Clip1
|
UTSW |
5 |
123631078 |
missense |
probably damaging |
1.00 |
R3911:Clip1
|
UTSW |
5 |
123590834 |
missense |
probably damaging |
1.00 |
R3944:Clip1
|
UTSW |
5 |
123617829 |
unclassified |
probably benign |
|
R4660:Clip1
|
UTSW |
5 |
123579374 |
missense |
probably damaging |
0.98 |
R4784:Clip1
|
UTSW |
5 |
123579293 |
missense |
probably damaging |
1.00 |
R4785:Clip1
|
UTSW |
5 |
123579293 |
missense |
probably damaging |
1.00 |
R4824:Clip1
|
UTSW |
5 |
123631023 |
missense |
probably damaging |
1.00 |
R4831:Clip1
|
UTSW |
5 |
123583601 |
missense |
probably damaging |
1.00 |
R4951:Clip1
|
UTSW |
5 |
123630345 |
missense |
probably benign |
0.02 |
R4960:Clip1
|
UTSW |
5 |
123654003 |
nonsense |
probably null |
|
R5014:Clip1
|
UTSW |
5 |
123617730 |
missense |
probably damaging |
0.99 |
R5116:Clip1
|
UTSW |
5 |
123630707 |
missense |
probably benign |
0.05 |
R5212:Clip1
|
UTSW |
5 |
123630681 |
missense |
probably benign |
0.09 |
R5238:Clip1
|
UTSW |
5 |
123647883 |
missense |
probably damaging |
1.00 |
R5318:Clip1
|
UTSW |
5 |
123613084 |
unclassified |
probably benign |
|
R5372:Clip1
|
UTSW |
5 |
123630240 |
missense |
probably benign |
0.02 |
R5701:Clip1
|
UTSW |
5 |
123613303 |
unclassified |
probably benign |
|
R5734:Clip1
|
UTSW |
5 |
123615154 |
unclassified |
probably benign |
|
R5757:Clip1
|
UTSW |
5 |
123627397 |
missense |
probably benign |
0.21 |
R6024:Clip1
|
UTSW |
5 |
123615089 |
missense |
possibly damaging |
0.66 |
R6160:Clip1
|
UTSW |
5 |
123613541 |
missense |
possibly damaging |
0.66 |
R6177:Clip1
|
UTSW |
5 |
123613834 |
unclassified |
probably benign |
|
R6183:Clip1
|
UTSW |
5 |
123642604 |
missense |
probably damaging |
1.00 |
R6377:Clip1
|
UTSW |
5 |
123603654 |
missense |
possibly damaging |
0.50 |
R6436:Clip1
|
UTSW |
5 |
123641785 |
missense |
probably damaging |
1.00 |
R6471:Clip1
|
UTSW |
5 |
123640549 |
missense |
probably damaging |
0.99 |
R6766:Clip1
|
UTSW |
5 |
123614764 |
unclassified |
probably benign |
|
R7015:Clip1
|
UTSW |
5 |
123613612 |
unclassified |
probably benign |
|
R7094:Clip1
|
UTSW |
5 |
123623270 |
missense |
probably benign |
0.02 |
R7143:Clip1
|
UTSW |
5 |
123653610 |
missense |
probably benign |
|
R7222:Clip1
|
UTSW |
5 |
123611841 |
missense |
probably damaging |
0.99 |
R7233:Clip1
|
UTSW |
5 |
123611859 |
missense |
probably damaging |
1.00 |
R7238:Clip1
|
UTSW |
5 |
123613265 |
missense |
|
|
R7249:Clip1
|
UTSW |
5 |
123603600 |
missense |
probably damaging |
1.00 |
R7283:Clip1
|
UTSW |
5 |
123613794 |
missense |
|
|
R7295:Clip1
|
UTSW |
5 |
123627356 |
missense |
probably benign |
0.19 |
R7447:Clip1
|
UTSW |
5 |
123653633 |
missense |
probably benign |
0.03 |
R7458:Clip1
|
UTSW |
5 |
123640546 |
missense |
probably damaging |
1.00 |
R7483:Clip1
|
UTSW |
5 |
123617384 |
missense |
probably benign |
0.00 |
R7516:Clip1
|
UTSW |
5 |
123583385 |
missense |
probably benign |
0.00 |
R7619:Clip1
|
UTSW |
5 |
123614279 |
missense |
|
|
R7831:Clip1
|
UTSW |
5 |
123613279 |
missense |
|
|
R7897:Clip1
|
UTSW |
5 |
123622798 |
missense |
probably benign |
|
R8155:Clip1
|
UTSW |
5 |
123613636 |
missense |
|
|
R8157:Clip1
|
UTSW |
5 |
123630719 |
missense |
probably benign |
0.17 |
R8232:Clip1
|
UTSW |
5 |
123647918 |
missense |
probably benign |
0.05 |
R8396:Clip1
|
UTSW |
5 |
123642564 |
missense |
probably damaging |
1.00 |
R8446:Clip1
|
UTSW |
5 |
123655945 |
missense |
probably damaging |
1.00 |
R8486:Clip1
|
UTSW |
5 |
123614707 |
unclassified |
probably benign |
|
R8511:Clip1
|
UTSW |
5 |
123653906 |
missense |
possibly damaging |
0.50 |
R8731:Clip1
|
UTSW |
5 |
123614693 |
missense |
|
|
R8889:Clip1
|
UTSW |
5 |
123579502 |
missense |
probably benign |
0.00 |
R8892:Clip1
|
UTSW |
5 |
123579502 |
missense |
probably benign |
0.00 |
R9058:Clip1
|
UTSW |
5 |
123614582 |
missense |
|
|
R9106:Clip1
|
UTSW |
5 |
123615160 |
missense |
probably damaging |
0.97 |
R9212:Clip1
|
UTSW |
5 |
123583336 |
missense |
probably damaging |
1.00 |
R9217:Clip1
|
UTSW |
5 |
123579378 |
missense |
probably damaging |
1.00 |
R9223:Clip1
|
UTSW |
5 |
123646274 |
missense |
probably damaging |
1.00 |
R9325:Clip1
|
UTSW |
5 |
123613123 |
missense |
|
|
R9752:Clip1
|
UTSW |
5 |
123621946 |
missense |
probably damaging |
1.00 |
Z1177:Clip1
|
UTSW |
5 |
123617350 |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-12-03 |