Incidental Mutation 'R4784:C4b'
| ID |
366884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C4b
|
| Ensembl Gene |
ENSMUSG00000073418 |
| Gene Name |
complement C4B (Chido blood group) |
| Synonyms |
Ss, C4 |
| MMRRC Submission |
041994-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4784 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34947354-34962856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34952380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1220
(T1220A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069507]
|
| AlphaFold |
P01029 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069507
AA Change: T1220A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: T1220A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
138 |
231 |
2e-19 |
PFAM |
|
A2M_N_2
|
470 |
609 |
2.87e-26 |
SMART |
|
ANATO
|
700 |
734 |
3.58e-12 |
SMART |
|
low complexity region
|
761 |
771 |
N/A |
INTRINSIC |
|
A2M
|
779 |
867 |
1.46e-27 |
SMART |
|
Pfam:Thiol-ester_cl
|
995 |
1024 |
7.7e-13 |
PFAM |
|
Pfam:A2M_comp
|
1047 |
1313 |
1.3e-82 |
PFAM |
|
low complexity region
|
1441 |
1447 |
N/A |
INTRINSIC |
|
A2M_recep
|
1475 |
1564 |
1.03e-36 |
SMART |
|
C345C
|
1608 |
1720 |
5.69e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173057
|
| SMART Domains |
Protein: ENSMUSP00000134611
Gene: ENSMUSG00000073418
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A2M
|
1 |
62 |
6.5e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173669
|
| Meta Mutation Damage Score |
0.0815 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous C4 deficient mice have compromised immune responses. [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 |
| 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 |
| Clip1 |
T |
C |
5: 123,717,356 (GRCm39) |
D1387G |
probably 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 C4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:C4b
|
APN |
17 |
34,953,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00433:C4b
|
APN |
17 |
34,961,015 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL00471:C4b
|
APN |
17 |
34,953,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00515:C4b
|
APN |
17 |
34,947,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:C4b
|
APN |
17 |
34,961,993 (GRCm39) |
splice site |
probably benign |
|
|
IGL01761:C4b
|
APN |
17 |
34,958,912 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02004:C4b
|
APN |
17 |
34,957,984 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02215:C4b
|
APN |
17 |
34,953,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02517:C4b
|
APN |
17 |
34,953,382 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02926:C4b
|
APN |
17 |
34,949,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03031:C4b
|
APN |
17 |
34,950,104 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03057:C4b
|
APN |
17 |
34,956,738 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03165:C4b
|
APN |
17 |
34,958,929 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03380:C4b
|
APN |
17 |
34,959,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
Aspiration
|
UTSW |
17 |
34,953,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
Inspiration
|
UTSW |
17 |
34,951,140 (GRCm39) |
splice site |
probably null |
|
|
Peroration
|
UTSW |
17 |
34,948,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
perspiration
|
UTSW |
17 |
34,948,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4548:C4b
|
UTSW |
17 |
34,959,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4142001:C4b
|
UTSW |
17 |
34,952,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0064:C4b
|
UTSW |
17 |
34,957,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:C4b
|
UTSW |
17 |
34,960,214 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0143:C4b
|
UTSW |
17 |
34,953,193 (GRCm39) |
unclassified |
probably benign |
|
|
R0254:C4b
|
UTSW |
17 |
34,953,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0320:C4b
|
UTSW |
17 |
34,952,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0391:C4b
|
UTSW |
17 |
34,954,588 (GRCm39) |
splice site |
probably benign |
|
|
R0399:C4b
|
UTSW |
17 |
34,947,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:C4b
|
UTSW |
17 |
34,955,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0549:C4b
|
UTSW |
17 |
34,954,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:C4b
|
UTSW |
17 |
34,953,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0662:C4b
|
UTSW |
17 |
34,949,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0941:C4b
|
UTSW |
17 |
34,959,029 (GRCm39) |
missense |
probably benign |
|
|
R1161:C4b
|
UTSW |
17 |
34,948,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:C4b
|
UTSW |
17 |
34,961,946 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1186:C4b
|
UTSW |
17 |
34,955,283 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1310:C4b
|
UTSW |
17 |
34,948,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:C4b
|
UTSW |
17 |
34,949,693 (GRCm39) |
unclassified |
probably benign |
|
|
R1472:C4b
|
UTSW |
17 |
34,962,743 (GRCm39) |
nonsense |
probably null |
|
|
R1496:C4b
|
UTSW |
17 |
34,958,995 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1544:C4b
|
UTSW |
17 |
34,957,941 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1588:C4b
|
UTSW |
17 |
34,959,999 (GRCm39) |
missense |
probably benign |
|
|
R1645:C4b
|
UTSW |
17 |
34,959,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:C4b
|
UTSW |
17 |
34,951,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:C4b
|
UTSW |
17 |
34,962,624 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1710:C4b
|
UTSW |
17 |
34,962,638 (GRCm39) |
splice site |
probably benign |
|
|
R1713:C4b
|
UTSW |
17 |
34,948,245 (GRCm39) |
splice site |
probably benign |
|
|
R1770:C4b
|
UTSW |
17 |
34,955,901 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1859:C4b
|
UTSW |
17 |
34,954,527 (GRCm39) |
missense |
probably benign |
|
|
R1924:C4b
|
UTSW |
17 |
34,948,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:C4b
|
UTSW |
17 |
34,947,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:C4b
|
UTSW |
17 |
34,955,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:C4b
|
UTSW |
17 |
34,956,676 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2306:C4b
|
UTSW |
17 |
34,947,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2363:C4b
|
UTSW |
17 |
34,955,032 (GRCm39) |
splice site |
probably benign |
|
|
R2365:C4b
|
UTSW |
17 |
34,955,032 (GRCm39) |
splice site |
probably benign |
|
|
R2379:C4b
|
UTSW |
17 |
34,954,717 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2860:C4b
|
UTSW |
17 |
34,953,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2861:C4b
|
UTSW |
17 |
34,953,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3551:C4b
|
UTSW |
17 |
34,960,846 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3765:C4b
|
UTSW |
17 |
34,948,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4157:C4b
|
UTSW |
17 |
34,961,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:C4b
|
UTSW |
17 |
34,950,118 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4365:C4b
|
UTSW |
17 |
34,953,717 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4411:C4b
|
UTSW |
17 |
34,947,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:C4b
|
UTSW |
17 |
34,953,525 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4790:C4b
|
UTSW |
17 |
34,953,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4831:C4b
|
UTSW |
17 |
34,955,864 (GRCm39) |
splice site |
probably null |
|
|
R4879:C4b
|
UTSW |
17 |
34,962,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5036:C4b
|
UTSW |
17 |
34,959,419 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5361:C4b
|
UTSW |
17 |
34,960,212 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5384:C4b
|
UTSW |
17 |
34,956,635 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5518:C4b
|
UTSW |
17 |
34,953,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5590:C4b
|
UTSW |
17 |
34,959,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5643:C4b
|
UTSW |
17 |
34,961,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5644:C4b
|
UTSW |
17 |
34,961,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5833:C4b
|
UTSW |
17 |
34,949,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:C4b
|
UTSW |
17 |
34,948,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6178:C4b
|
UTSW |
17 |
34,952,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6209:C4b
|
UTSW |
17 |
34,960,061 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6225:C4b
|
UTSW |
17 |
34,957,848 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6518:C4b
|
UTSW |
17 |
34,953,179 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6613:C4b
|
UTSW |
17 |
34,952,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6781:C4b
|
UTSW |
17 |
34,961,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6807:C4b
|
UTSW |
17 |
34,949,930 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6858:C4b
|
UTSW |
17 |
34,948,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6962:C4b
|
UTSW |
17 |
34,951,140 (GRCm39) |
splice site |
probably null |
|
|
R7068:C4b
|
UTSW |
17 |
34,952,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:C4b
|
UTSW |
17 |
34,954,417 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7105:C4b
|
UTSW |
17 |
34,949,885 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7211:C4b
|
UTSW |
17 |
34,954,508 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7296:C4b
|
UTSW |
17 |
34,962,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:C4b
|
UTSW |
17 |
34,959,330 (GRCm39) |
missense |
probably benign |
|
|
R7330:C4b
|
UTSW |
17 |
34,949,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:C4b
|
UTSW |
17 |
34,961,364 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7437:C4b
|
UTSW |
17 |
34,953,707 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7490:C4b
|
UTSW |
17 |
34,950,054 (GRCm39) |
nonsense |
probably null |
|
|
R7597:C4b
|
UTSW |
17 |
34,958,649 (GRCm39) |
missense |
probably benign |
|
|
R7633:C4b
|
UTSW |
17 |
34,948,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7900:C4b
|
UTSW |
17 |
34,958,751 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7910:C4b
|
UTSW |
17 |
34,959,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7923:C4b
|
UTSW |
17 |
34,961,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:C4b
|
UTSW |
17 |
34,960,252 (GRCm39) |
splice site |
probably null |
|
|
R8420:C4b
|
UTSW |
17 |
34,953,513 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8467:C4b
|
UTSW |
17 |
34,951,787 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8558:C4b
|
UTSW |
17 |
34,955,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:C4b
|
UTSW |
17 |
34,953,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:C4b
|
UTSW |
17 |
34,953,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:C4b
|
UTSW |
17 |
34,948,879 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8934:C4b
|
UTSW |
17 |
34,951,958 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8944:C4b
|
UTSW |
17 |
34,961,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8960:C4b
|
UTSW |
17 |
34,952,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:C4b
|
UTSW |
17 |
34,953,338 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9104:C4b
|
UTSW |
17 |
34,948,233 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9114:C4b
|
UTSW |
17 |
34,948,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9348:C4b
|
UTSW |
17 |
34,952,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9428:C4b
|
UTSW |
17 |
34,949,885 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9533:C4b
|
UTSW |
17 |
34,956,698 (GRCm39) |
nonsense |
probably null |
|
|
R9591:C4b
|
UTSW |
17 |
34,957,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9678:C4b
|
UTSW |
17 |
34,960,763 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:C4b
|
UTSW |
17 |
34,950,121 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGACTAAGCCCCAGTAGAG -3'
(R):5'- CTTCTAGGAAGCCTCCATCAC -3'
Sequencing Primer
(F):5'- CTAAGCCCCAGTAGAGGTGTTCTAG -3'
(R):5'- CCAAGGCAAACTCATTCTTGGGG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation