Incidental Mutation 'R5590:C4b'
| ID |
437492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C4b
|
| Ensembl Gene |
ENSMUSG00000073418 |
| Gene Name |
complement C4B (Chido blood group) |
| Synonyms |
Ss, C4 |
| MMRRC Submission |
043143-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5590 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34947354-34962856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34959309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 422
(T422A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069507]
|
| AlphaFold |
P01029 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069507
AA Change: T422A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: T422A
| 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: ENSMUST00000174597
|
| Meta Mutation Damage Score |
0.0837 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (108/108) |
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
T |
G |
4: 124,504,280 (GRCm39) |
M91L |
unknown |
Het |
| A2m |
C |
T |
6: 121,653,891 (GRCm39) |
T1408M |
probably damaging |
Het |
| Abca16 |
C |
T |
7: 120,143,995 (GRCm39) |
T1671M |
probably damaging |
Het |
| Adamts8 |
A |
T |
9: 30,862,632 (GRCm39) |
N279I |
probably damaging |
Het |
| Adgre1 |
T |
A |
17: 57,752,034 (GRCm39) |
I594N |
probably damaging |
Het |
| Aldh4a1 |
T |
A |
4: 139,369,415 (GRCm39) |
V322E |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,610,837 (GRCm39) |
Y327F |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,664,143 (GRCm39) |
S668T |
probably damaging |
Het |
| Cchcr1 |
A |
T |
17: 35,837,577 (GRCm39) |
E426D |
probably damaging |
Het |
| Ccr3 |
G |
A |
9: 123,828,830 (GRCm39) |
G55D |
probably damaging |
Het |
| Cdipt |
T |
A |
7: 126,578,704 (GRCm39) |
|
probably null |
Het |
| Cep19 |
A |
G |
16: 31,922,716 (GRCm39) |
|
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,349,626 (GRCm39) |
M56L |
probably benign |
Het |
| Cyp3a11 |
C |
A |
5: 145,802,787 (GRCm39) |
M235I |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,363 (GRCm39) |
D87E |
possibly damaging |
Het |
| Ell |
A |
C |
8: 70,992,357 (GRCm39) |
M1L |
possibly damaging |
Het |
| Esyt3 |
T |
C |
9: 99,240,466 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
C |
9: 32,640,094 (GRCm39) |
|
probably benign |
Het |
| Fam222b |
T |
A |
11: 78,045,858 (GRCm39) |
M473K |
probably benign |
Het |
| Fanca |
T |
C |
8: 124,030,702 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
G |
T |
5: 110,529,484 (GRCm39) |
A67D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,094,380 (GRCm39) |
P622L |
probably damaging |
Het |
| Gal3st2c |
T |
G |
1: 93,936,023 (GRCm39) |
|
probably null |
Het |
| Gins2 |
T |
G |
8: 121,308,486 (GRCm39) |
H166P |
possibly damaging |
Het |
| Gm10118 |
A |
T |
10: 63,762,845 (GRCm39) |
|
probably benign |
Het |
| Gm9979 |
A |
T |
13: 40,859,289 (GRCm39) |
|
noncoding transcript |
Het |
| Hspbap1 |
A |
G |
16: 35,622,033 (GRCm39) |
Y126C |
probably damaging |
Het |
| Hspd1 |
A |
T |
1: 55,123,928 (GRCm39) |
I64N |
probably damaging |
Het |
| Igkv3-4 |
A |
T |
6: 70,649,267 (GRCm39) |
S89C |
probably damaging |
Het |
| Il10ra |
T |
A |
9: 45,176,924 (GRCm39) |
K134* |
probably null |
Het |
| Il12rb1 |
G |
A |
8: 71,266,411 (GRCm39) |
C252Y |
possibly damaging |
Het |
| Il24 |
A |
T |
1: 130,810,253 (GRCm39) |
V201E |
possibly damaging |
Het |
| Inpp1 |
A |
G |
1: 52,833,820 (GRCm39) |
I92T |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,023,463 (GRCm39) |
D535G |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,573,082 (GRCm39) |
I240F |
probably damaging |
Het |
| Kctd17 |
G |
A |
15: 78,321,502 (GRCm39) |
|
probably benign |
Het |
| Leo1 |
T |
A |
9: 75,364,423 (GRCm39) |
I521N |
possibly damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,841 (GRCm39) |
L722P |
probably damaging |
Het |
| Met |
G |
T |
6: 17,548,781 (GRCm39) |
V942L |
probably benign |
Het |
| Mfn1 |
A |
T |
3: 32,617,996 (GRCm39) |
T110S |
probably benign |
Het |
| Mrps15 |
T |
C |
4: 125,942,488 (GRCm39) |
I79T |
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,360,791 (GRCm39) |
M4497R |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,699,722 (GRCm39) |
S362T |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,955,827 (GRCm39) |
F1209L |
probably benign |
Het |
| Nab2 |
T |
C |
10: 127,500,526 (GRCm39) |
S189G |
probably damaging |
Het |
| Naxe |
A |
C |
3: 87,963,840 (GRCm39) |
|
probably null |
Het |
| Ncf1 |
A |
G |
5: 134,252,355 (GRCm39) |
V232A |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,929,359 (GRCm39) |
Y422C |
probably damaging |
Het |
| Nmnat2 |
G |
T |
1: 152,969,807 (GRCm39) |
G176V |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,362,149 (GRCm39) |
S999P |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,211,119 (GRCm39) |
D323G |
probably benign |
Het |
| Or4d10b |
A |
G |
19: 12,036,642 (GRCm39) |
V158A |
probably benign |
Het |
| Or5h23 |
A |
G |
16: 58,906,360 (GRCm39) |
F162S |
probably benign |
Het |
| Or8b3b |
T |
A |
9: 38,584,261 (GRCm39) |
T160S |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,108,029 (GRCm39) |
S342P |
probably damaging |
Het |
| Pag1 |
A |
T |
3: 9,764,482 (GRCm39) |
Y224N |
probably damaging |
Het |
| Pald1 |
T |
A |
10: 61,179,489 (GRCm39) |
H460L |
probably damaging |
Het |
| Per2 |
G |
A |
1: 91,355,578 (GRCm39) |
Q727* |
probably null |
Het |
| Pex19 |
T |
C |
1: 171,960,779 (GRCm39) |
V134A |
probably benign |
Het |
| Phlpp1 |
A |
T |
1: 106,320,657 (GRCm39) |
I1551F |
possibly damaging |
Het |
| Ppef2 |
A |
T |
5: 92,386,998 (GRCm39) |
V313D |
probably damaging |
Het |
| Prorp |
T |
C |
12: 55,351,257 (GRCm39) |
S189P |
possibly damaging |
Het |
| Pzp |
A |
C |
6: 128,500,759 (GRCm39) |
F153C |
probably damaging |
Het |
| Rasl11a |
A |
G |
5: 146,782,052 (GRCm39) |
H9R |
probably benign |
Het |
| Rfx3 |
A |
T |
19: 27,779,780 (GRCm39) |
|
probably null |
Het |
| Rmnd5b |
A |
T |
11: 51,518,789 (GRCm39) |
I68N |
probably damaging |
Het |
| Senp5 |
T |
A |
16: 31,808,331 (GRCm39) |
S281C |
probably damaging |
Het |
| Sh3rf1 |
G |
A |
8: 61,814,766 (GRCm39) |
E442K |
probably benign |
Het |
| Slc12a3 |
G |
A |
8: 95,072,416 (GRCm39) |
V645M |
probably damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,457,337 (GRCm39) |
F193L |
possibly damaging |
Het |
| Slc35f1 |
A |
T |
10: 52,984,274 (GRCm39) |
T345S |
possibly damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,148,874 (GRCm39) |
R704H |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,003,336 (GRCm39) |
Y89F |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,451,425 (GRCm39) |
E2741G |
probably damaging |
Het |
| Strn4 |
G |
A |
7: 16,567,799 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,814,132 (GRCm39) |
T1859A |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,682,389 (GRCm39) |
Y3N |
probably damaging |
Het |
| Tdrd9 |
C |
A |
12: 112,018,414 (GRCm39) |
R1278S |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,446,608 (GRCm39) |
A826E |
possibly damaging |
Het |
| Tenm4 |
G |
T |
7: 96,446,607 (GRCm39) |
A826S |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,182,241 (GRCm39) |
|
probably null |
Het |
| Tfec |
A |
G |
6: 16,834,199 (GRCm39) |
L236P |
probably benign |
Het |
| Tjap1 |
A |
G |
17: 46,569,797 (GRCm39) |
S388P |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,208 (GRCm39) |
T554A |
possibly damaging |
Het |
| Tmem17 |
G |
A |
11: 22,467,450 (GRCm39) |
V83I |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,760,703 (GRCm39) |
H137Y |
probably damaging |
Het |
| Tomm5 |
T |
C |
4: 45,106,679 (GRCm39) |
|
probably benign |
Het |
| Top3b |
T |
A |
16: 16,709,441 (GRCm39) |
|
probably benign |
Het |
| Tph1 |
T |
C |
7: 46,303,216 (GRCm39) |
H254R |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,841,468 (GRCm39) |
Y487H |
probably damaging |
Het |
| Trappc13 |
T |
A |
13: 104,284,749 (GRCm39) |
D241V |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,719,075 (GRCm39) |
I193V |
probably benign |
Het |
| Tspear |
A |
T |
10: 77,706,199 (GRCm39) |
H323L |
probably benign |
Het |
| Ttc39a |
A |
T |
4: 109,290,184 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubg1 |
A |
G |
11: 101,014,858 (GRCm39) |
D200G |
probably damaging |
Het |
| Ugdh |
C |
A |
5: 65,580,217 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
A |
G |
5: 92,328,467 (GRCm39) |
N355D |
probably benign |
Het |
| Vamp4 |
T |
C |
1: 162,420,248 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,180,195 (GRCm39) |
T300A |
probably benign |
Het |
| Wt1 |
A |
T |
2: 104,957,629 (GRCm39) |
H163L |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,344,379 (GRCm39) |
S2207P |
probably benign |
Het |
| Xpo6 |
A |
T |
7: 125,706,250 (GRCm39) |
I30N |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,347 (GRCm39) |
I320K |
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 |
|
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'- TATGCCAAGGACCCAAATGTG -3'
(R):5'- CCGCACTAAGAGGCATCTTGTG -3'
Sequencing Primer
(F):5'- AAATGTGCCACCCCTTCC -3'
(R):5'- TCCTCTTGGAAGGGCAGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation