Incidental Mutation 'R1710:C4b'
| ID |
190494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C4b
|
| Ensembl Gene |
ENSMUSG00000073418 |
| Gene Name |
complement C4B (Chido blood group) |
| Synonyms |
Ss, C4 |
| MMRRC Submission |
039743-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1710 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34947354-34962856 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 34962638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069507]
|
| AlphaFold |
P01029 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069507
|
| SMART Domains |
Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (117/120) |
| 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: 114 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
A |
T |
18: 70,601,134 (GRCm39) |
S249R |
possibly damaging |
Het |
| Acadvl |
T |
A |
11: 69,901,181 (GRCm39) |
I638F |
probably damaging |
Het |
| Acnat2 |
T |
A |
4: 49,380,587 (GRCm39) |
T264S |
probably benign |
Het |
| Acrv1 |
C |
T |
9: 36,605,551 (GRCm39) |
Q33* |
probably null |
Het |
| Actrt3 |
T |
A |
3: 30,653,901 (GRCm39) |
N33I |
probably damaging |
Het |
| Alyref2 |
T |
C |
1: 171,331,168 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,726,709 (GRCm39) |
E3712* |
probably null |
Het |
| Ano7 |
C |
A |
1: 93,313,346 (GRCm39) |
H161Q |
probably benign |
Het |
| Arhgap10 |
C |
A |
8: 78,085,216 (GRCm39) |
E451* |
probably null |
Het |
| Arhgap29 |
T |
A |
3: 121,801,729 (GRCm39) |
Y748N |
probably damaging |
Het |
| Arhgap45 |
C |
T |
10: 79,853,932 (GRCm39) |
Q149* |
probably null |
Het |
| Asap2 |
C |
T |
12: 21,274,393 (GRCm39) |
H371Y |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,735,372 (GRCm39) |
I480T |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,101,610 (GRCm39) |
D218G |
possibly damaging |
Het |
| Brdt |
A |
T |
5: 107,491,450 (GRCm39) |
D74V |
probably damaging |
Het |
| Card11 |
T |
A |
5: 140,888,660 (GRCm39) |
K233* |
probably null |
Het |
| Catip |
T |
G |
1: 74,401,929 (GRCm39) |
F35V |
possibly damaging |
Het |
| Ccdc13 |
C |
T |
9: 121,648,647 (GRCm39) |
G247R |
probably damaging |
Het |
| Cep97 |
T |
A |
16: 55,735,385 (GRCm39) |
D471V |
probably damaging |
Het |
| Col17a1 |
A |
T |
19: 47,659,370 (GRCm39) |
L403Q |
probably damaging |
Het |
| Crbn |
A |
G |
6: 106,767,906 (GRCm39) |
S194P |
possibly damaging |
Het |
| Degs1l |
A |
G |
1: 180,878,884 (GRCm39) |
M1V |
probably null |
Het |
| Dennd10 |
A |
G |
19: 60,806,021 (GRCm39) |
Y102C |
probably damaging |
Het |
| Dhx58 |
T |
A |
11: 100,594,400 (GRCm39) |
H97L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 31,073,914 (GRCm39) |
I4528T |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,404,092 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
T |
19: 40,714,680 (GRCm39) |
Q263L |
probably benign |
Het |
| Entrep1 |
A |
T |
19: 23,957,059 (GRCm39) |
I317N |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,218,244 (GRCm39) |
I130M |
probably benign |
Het |
| Etv1 |
T |
C |
12: 38,902,261 (GRCm39) |
F264S |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,463,519 (GRCm39) |
S1354P |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,005,304 (GRCm39) |
T1901N |
probably damaging |
Het |
| Fbxw13 |
C |
T |
9: 109,010,586 (GRCm39) |
V351I |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,795,356 (GRCm39) |
F160L |
possibly damaging |
Het |
| Fyb2 |
T |
A |
4: 104,861,113 (GRCm39) |
D592E |
probably damaging |
Het |
| Gjb4 |
T |
C |
4: 127,245,663 (GRCm39) |
M93V |
possibly damaging |
Het |
| Gm5089 |
C |
A |
14: 122,673,566 (GRCm39) |
G52* |
probably null |
Het |
| Gm6401 |
G |
T |
14: 41,788,840 (GRCm39) |
N76K |
probably benign |
Het |
| Gm6871 |
A |
G |
7: 41,195,901 (GRCm39) |
S279P |
probably damaging |
Het |
| Gtf2ird2 |
T |
G |
5: 134,240,081 (GRCm39) |
V301G |
probably benign |
Het |
| H2bw2 |
A |
C |
X: 135,828,216 (GRCm39) |
D35A |
unknown |
Het |
| Hfm1 |
A |
G |
5: 107,028,380 (GRCm39) |
F817L |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,043,869 (GRCm39) |
E589G |
probably damaging |
Het |
| Hivep2 |
A |
T |
10: 14,005,249 (GRCm39) |
K616* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,551,735 (GRCm39) |
I2623N |
probably damaging |
Het |
| Igf2bp3 |
G |
T |
6: 49,082,565 (GRCm39) |
A339E |
probably damaging |
Het |
| Insyn2b |
T |
A |
11: 34,354,263 (GRCm39) |
|
probably null |
Het |
| Irx4 |
T |
C |
13: 73,415,757 (GRCm39) |
I182T |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,674,511 (GRCm39) |
S758P |
probably damaging |
Het |
| Klhdc4 |
A |
T |
8: 122,526,226 (GRCm39) |
Y304* |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,060,786 (GRCm39) |
I705V |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,147,044 (GRCm39) |
N418S |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,279,014 (GRCm39) |
V279I |
probably damaging |
Het |
| Morc4 |
A |
C |
X: 138,755,279 (GRCm39) |
C272W |
probably damaging |
Het |
| Mrm1 |
A |
T |
11: 84,709,518 (GRCm39) |
C180S |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,313,831 (GRCm39) |
D103G |
probably damaging |
Het |
| Ndrg4 |
A |
G |
8: 96,437,314 (GRCm39) |
D251G |
probably damaging |
Het |
| Ndufaf5 |
T |
C |
2: 140,035,522 (GRCm39) |
V246A |
possibly damaging |
Het |
| Noa1 |
T |
C |
5: 77,457,572 (GRCm39) |
E111G |
possibly damaging |
Het |
| Nod1 |
C |
A |
6: 54,921,044 (GRCm39) |
V425F |
probably damaging |
Het |
| Nos1 |
A |
T |
5: 118,033,984 (GRCm39) |
I369F |
probably damaging |
Het |
| Nsun5 |
C |
T |
5: 135,400,170 (GRCm39) |
H98Y |
probably damaging |
Het |
| Optn |
G |
A |
2: 5,057,941 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or14c39 |
G |
A |
7: 86,344,318 (GRCm39) |
R218H |
probably benign |
Het |
| Or4k15c |
C |
G |
14: 50,321,827 (GRCm39) |
V104L |
probably benign |
Het |
| Or5k1b |
A |
G |
16: 58,581,504 (GRCm39) |
F12L |
probably benign |
Het |
| Or8d1b |
A |
G |
9: 38,887,202 (GRCm39) |
I77V |
probably damaging |
Het |
| Or8g28 |
T |
C |
9: 39,169,867 (GRCm39) |
I37V |
probably benign |
Het |
| Or9g19 |
C |
T |
2: 85,600,199 (GRCm39) |
T18I |
probably benign |
Het |
| Oscar |
C |
T |
7: 3,614,855 (GRCm39) |
W22* |
probably null |
Het |
| Palmd |
T |
A |
3: 116,717,306 (GRCm39) |
Y397F |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,768,121 (GRCm39) |
D447G |
probably damaging |
Het |
| Plscr5 |
T |
A |
9: 92,087,581 (GRCm39) |
N183K |
probably damaging |
Het |
| Polk |
T |
G |
13: 96,625,712 (GRCm39) |
D364A |
probably damaging |
Het |
| Polr3d |
T |
C |
14: 70,680,450 (GRCm39) |
T36A |
probably benign |
Het |
| Ppp1r10 |
A |
T |
17: 36,237,428 (GRCm39) |
R199S |
probably damaging |
Het |
| Prkcz |
C |
T |
4: 155,346,969 (GRCm39) |
D388N |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,102,234 (GRCm39) |
L769P |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,213,966 (GRCm39) |
V232A |
probably damaging |
Het |
| Pth2r |
T |
C |
1: 65,375,997 (GRCm39) |
V85A |
possibly damaging |
Het |
| Rbpms2 |
T |
C |
9: 65,566,494 (GRCm39) |
|
probably benign |
Het |
| Reps1 |
A |
T |
10: 17,994,698 (GRCm39) |
D514V |
possibly damaging |
Het |
| Riok3 |
G |
T |
18: 12,276,018 (GRCm39) |
R238L |
probably benign |
Het |
| Rnf19a |
T |
C |
15: 36,244,353 (GRCm39) |
Q569R |
probably damaging |
Het |
| Rorb |
G |
A |
19: 18,937,865 (GRCm39) |
T267I |
probably damaging |
Het |
| Rrm2b |
A |
T |
15: 37,929,340 (GRCm39) |
M70K |
probably damaging |
Het |
| Rsf1 |
A |
T |
7: 97,311,556 (GRCm39) |
E762V |
possibly damaging |
Het |
| S100a2 |
G |
A |
3: 90,498,699 (GRCm39) |
V67I |
probably benign |
Het |
| Skp1 |
T |
A |
11: 52,133,442 (GRCm39) |
D42E |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,918,801 (GRCm39) |
M1K |
probably null |
Het |
| Slc2a9 |
T |
A |
5: 38,539,387 (GRCm39) |
Q371L |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,665,075 (GRCm39) |
T475A |
probably benign |
Het |
| Slc8b1 |
A |
G |
5: 120,657,717 (GRCm39) |
N60S |
probably damaging |
Het |
| Slx4 |
A |
C |
16: 3,817,022 (GRCm39) |
D66E |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,977,113 (GRCm39) |
I156N |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,569,244 (GRCm39) |
C218S |
possibly damaging |
Het |
| Sulf2 |
T |
C |
2: 165,920,992 (GRCm39) |
I784V |
probably benign |
Het |
| Tatdn2 |
G |
T |
6: 113,674,888 (GRCm39) |
R72L |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,445,918 (GRCm39) |
D91G |
possibly damaging |
Het |
| Tifab |
C |
A |
13: 56,324,433 (GRCm39) |
R3S |
probably benign |
Het |
| Tm4sf1 |
A |
T |
3: 57,200,304 (GRCm39) |
S104T |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,334,343 (GRCm39) |
I618N |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,369,667 (GRCm39) |
D367E |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,719,203 (GRCm39) |
D678G |
possibly damaging |
Het |
| Vgll4 |
A |
G |
6: 114,934,895 (GRCm39) |
|
probably null |
Het |
| Vmn2r124 |
A |
T |
17: 18,282,187 (GRCm39) |
|
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,820 (GRCm39) |
D587G |
probably benign |
Het |
| Vmn2r84 |
G |
A |
10: 130,226,968 (GRCm39) |
A290V |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,818,811 (GRCm39) |
S1077R |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,489,719 (GRCm39) |
A495V |
probably benign |
Het |
| Vwa3a |
A |
T |
7: 120,403,254 (GRCm39) |
|
probably null |
Het |
| Zfhx2 |
C |
A |
14: 55,303,455 (GRCm39) |
A1510S |
possibly damaging |
Het |
| Zfp142 |
T |
A |
1: 74,611,389 (GRCm39) |
D601V |
probably damaging |
Het |
| Zfp62 |
T |
C |
11: 49,108,510 (GRCm39) |
I867T |
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 |
|
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 |
|
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'- GCTGAGCAGCACAAAGTCATCTCC -3'
(R):5'- GGCAAGCACATGTATTCGTACACAC -3'
Sequencing Primer
(F):5'- ACAAAGTCATCTCCCGAGC -3'
(R):5'- acacacacacacacaccc -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation