Incidental Mutation 'R5643:C4b'
| ID |
440900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C4b
|
| Ensembl Gene |
ENSMUSG00000073418 |
| Gene Name |
complement C4B (Chido blood group) |
| Synonyms |
Ss, C4 |
| MMRRC Submission |
043291-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5643 (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 34961391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 189
(I189M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069507]
|
| AlphaFold |
P01029 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069507
AA Change: I189M
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: I189M
| 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 |
noncoding transcript
Transcript: ENSMUST00000174597
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (110/117) |
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,988,021 (GRCm39) |
K3102E |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,351,902 (GRCm39) |
|
probably null |
Het |
| Akp3 |
A |
T |
1: 87,055,485 (GRCm39) |
T511S |
unknown |
Het |
| Alkal2 |
T |
A |
12: 30,934,889 (GRCm39) |
L36Q |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,529,218 (GRCm39) |
V523E |
probably damaging |
Het |
| Asah1 |
G |
T |
8: 41,813,332 (GRCm39) |
T27K |
possibly damaging |
Het |
| Bag2 |
A |
G |
1: 33,786,034 (GRCm39) |
V96A |
probably damaging |
Het |
| Bicd1 |
C |
T |
6: 149,421,901 (GRCm39) |
A874V |
probably damaging |
Het |
| Calcr |
A |
G |
6: 3,708,538 (GRCm39) |
I216T |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,184,970 (GRCm39) |
D1160V |
probably damaging |
Het |
| Cep128 |
A |
T |
12: 91,315,625 (GRCm39) |
I87K |
probably damaging |
Het |
| Cep170b |
C |
G |
12: 112,707,275 (GRCm39) |
H1256Q |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,134,232 (GRCm39) |
V705E |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,356,923 (GRCm39) |
I172L |
probably benign |
Het |
| Cobl |
A |
T |
11: 12,256,948 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
T |
A |
1: 45,429,202 (GRCm39) |
D972V |
probably damaging |
Het |
| Csrp1 |
A |
T |
1: 135,678,797 (GRCm39) |
N174I |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,444,866 (GRCm39) |
H3946L |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,001 (GRCm39) |
D133E |
probably benign |
Het |
| Dvl3 |
T |
A |
16: 20,345,026 (GRCm39) |
I353N |
probably damaging |
Het |
| Elavl3 |
A |
T |
9: 21,930,029 (GRCm39) |
S292T |
probably benign |
Het |
| Ephb2 |
T |
C |
4: 136,498,923 (GRCm39) |
N52S |
probably damaging |
Het |
| Gaa |
T |
A |
11: 119,171,361 (GRCm39) |
M671K |
possibly damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,423,032 (GRCm39) |
D222G |
possibly damaging |
Het |
| Gk5 |
C |
T |
9: 96,022,709 (GRCm39) |
Q182* |
probably null |
Het |
| Gm14403 |
A |
T |
2: 177,199,054 (GRCm39) |
H50L |
possibly damaging |
Het |
| Gzma |
T |
C |
13: 113,234,794 (GRCm39) |
T66A |
probably damaging |
Het |
| Hint2 |
T |
C |
4: 43,656,445 (GRCm39) |
|
probably benign |
Het |
| Hnmt |
A |
T |
2: 23,904,251 (GRCm39) |
W137R |
probably damaging |
Het |
| Hoga1 |
T |
C |
19: 42,048,402 (GRCm39) |
V90A |
probably benign |
Het |
| Idua |
A |
T |
5: 108,828,090 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
A |
C |
1: 92,983,489 (GRCm39) |
S669R |
probably damaging |
Het |
| Klhdc7b |
A |
T |
15: 89,271,862 (GRCm39) |
M915L |
possibly damaging |
Het |
| Klhl41 |
A |
G |
2: 69,500,815 (GRCm39) |
Y92C |
probably damaging |
Het |
| Klrc2 |
A |
T |
6: 129,633,420 (GRCm39) |
C186S |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,166,772 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,051,301 (GRCm39) |
M484V |
probably benign |
Het |
| Lzts1 |
A |
G |
8: 69,591,729 (GRCm39) |
S140P |
possibly damaging |
Het |
| Mgat5b |
T |
A |
11: 116,864,226 (GRCm39) |
V464E |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,944,305 (GRCm39) |
D298E |
possibly damaging |
Het |
| Muc5ac |
T |
C |
7: 141,347,452 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
T |
A |
14: 103,524,770 (GRCm39) |
K597I |
probably damaging |
Het |
| Myo18a |
C |
A |
11: 77,745,513 (GRCm39) |
D1619E |
probably benign |
Het |
| Nfx1 |
T |
C |
4: 40,984,973 (GRCm39) |
W366R |
probably null |
Het |
| Nipbl |
C |
T |
15: 8,388,391 (GRCm39) |
V410I |
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,935,323 (GRCm39) |
I68F |
probably benign |
Het |
| Or4c101 |
T |
A |
2: 88,389,849 (GRCm39) |
M1K |
probably null |
Het |
| Or4f60 |
A |
T |
2: 111,902,013 (GRCm39) |
M305K |
probably benign |
Het |
| Or52h1 |
T |
C |
7: 103,829,091 (GRCm39) |
I175V |
probably benign |
Het |
| Or5b95 |
A |
T |
19: 12,658,336 (GRCm39) |
Y288F |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,388,853 (GRCm39) |
M231K |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,503 (GRCm39) |
N206S |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,936,871 (GRCm39) |
T1527S |
probably damaging |
Het |
| P2ry12 |
A |
T |
3: 59,125,516 (GRCm39) |
M53K |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,265,065 (GRCm39) |
|
probably null |
Het |
| Pcca |
G |
A |
14: 123,124,481 (GRCm39) |
C684Y |
probably damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,219 (GRCm39) |
T432A |
possibly damaging |
Het |
| Peak1 |
T |
C |
9: 56,166,039 (GRCm39) |
N630D |
probably damaging |
Het |
| Plbd2 |
A |
T |
5: 120,631,231 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
T |
C |
4: 152,188,797 (GRCm39) |
V200A |
probably benign |
Het |
| Pola2 |
A |
G |
19: 6,011,198 (GRCm39) |
V42A |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,337,097 (GRCm39) |
W572R |
probably damaging |
Het |
| Ppp6r1 |
C |
T |
7: 4,636,771 (GRCm39) |
E679K |
probably benign |
Het |
| Pramel11 |
A |
T |
4: 143,622,337 (GRCm39) |
H339Q |
probably damaging |
Het |
| Prdx3 |
G |
A |
19: 60,859,963 (GRCm39) |
A70V |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,577,717 (GRCm39) |
F57L |
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,206,171 (GRCm39) |
T324A |
possibly damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,120,604 (GRCm39) |
F267L |
probably damaging |
Het |
| Rai14 |
T |
A |
15: 10,593,137 (GRCm39) |
H169L |
probably benign |
Het |
| Rere |
A |
G |
4: 150,701,700 (GRCm39) |
H1360R |
probably damaging |
Het |
| Rfc3 |
C |
T |
5: 151,573,444 (GRCm39) |
V40I |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,577,590 (GRCm39) |
T219S |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,576,338 (GRCm39) |
R289G |
possibly damaging |
Het |
| Senp7 |
T |
C |
16: 56,004,512 (GRCm39) |
|
silent |
Het |
| Sfmbt2 |
A |
T |
2: 10,573,184 (GRCm39) |
I571F |
probably damaging |
Het |
| Slc11a2 |
C |
A |
15: 100,301,068 (GRCm39) |
K328N |
probably benign |
Het |
| Slc25a10 |
A |
G |
11: 120,387,202 (GRCm39) |
|
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 120,207,488 (GRCm39) |
*433W |
probably null |
Het |
| Slco1a5 |
A |
C |
6: 142,183,320 (GRCm39) |
|
probably null |
Het |
| Smc6 |
T |
A |
12: 11,339,995 (GRCm39) |
N434K |
probably benign |
Het |
| Syndig1 |
A |
T |
2: 149,741,428 (GRCm39) |
I5F |
possibly damaging |
Het |
| Syt5 |
T |
C |
7: 4,546,018 (GRCm39) |
Q124R |
probably benign |
Het |
| Taok3 |
A |
C |
5: 117,344,785 (GRCm39) |
M171L |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,560,709 (GRCm39) |
D389G |
probably benign |
Het |
| Tcaf2 |
G |
A |
6: 42,619,707 (GRCm39) |
R107C |
possibly damaging |
Het |
| Tex14 |
C |
A |
11: 87,426,452 (GRCm39) |
H1159Q |
probably damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,474,388 (GRCm39) |
M190L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,768,867 (GRCm39) |
T2856S |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,171,998 (GRCm39) |
M2997K |
probably damaging |
Het |
| Unc5c |
C |
T |
3: 141,383,886 (GRCm39) |
A88V |
probably damaging |
Het |
| Use1 |
T |
C |
8: 71,820,398 (GRCm39) |
|
probably benign |
Het |
| Vmn1r43 |
T |
C |
6: 89,847,354 (GRCm39) |
N44S |
probably damaging |
Het |
| Vmn1r89 |
T |
A |
7: 12,954,146 (GRCm39) |
V294D |
possibly damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,194,869 (GRCm39) |
V819E |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,977 (GRCm39) |
M271L |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,905,059 (GRCm39) |
Y260C |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,151 (GRCm39) |
R519* |
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,404 (GRCm39) |
D578V |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,262,343 (GRCm39) |
Y132C |
probably damaging |
Het |
| Wdr74 |
T |
A |
19: 8,715,240 (GRCm39) |
V133E |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,720,170 (GRCm39) |
|
probably benign |
Het |
| Zfp810 |
A |
T |
9: 22,194,467 (GRCm39) |
S74T |
probably benign |
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 |
|
R4784:C4b
|
UTSW |
17 |
34,952,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CAGACAGCTATGGCCTGATTC -3'
(R):5'- GCACTGGATCAAAAGATGCG -3'
Sequencing Primer
(F):5'- CTGATTCCTCCAGAAGAAAGCTGTG -3'
(R):5'- TGGATCAAAAGATGCGCCCATC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation