Incidental Mutation 'R5590:C4b'
| ID |
437492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C4b
|
| Ensembl Gene |
ENSMUSG00000073418 |
| Gene Name |
complement component 4B (Chido blood group) |
| Synonyms |
C4, Ss |
| 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 |
34728380-34743882 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34740335 bp (GRCm38)
|
| 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: 124,610,487 (GRCm38) |
M91L |
unknown |
Het |
| A2m |
C |
T |
6: 121,676,932 (GRCm38) |
T1408M |
probably damaging |
Het |
| Abca16 |
C |
T |
7: 120,544,772 (GRCm38) |
T1671M |
probably damaging |
Het |
| Adamts8 |
A |
T |
9: 30,951,336 (GRCm38) |
N279I |
probably damaging |
Het |
| Adgre1 |
T |
A |
17: 57,445,034 (GRCm38) |
I594N |
probably damaging |
Het |
| Aldh4a1 |
T |
A |
4: 139,642,104 (GRCm38) |
V322E |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,373,380 (GRCm38) |
Y327F |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,687,182 (GRCm38) |
S668T |
probably damaging |
Het |
| Cchcr1 |
A |
T |
17: 35,526,680 (GRCm38) |
E426D |
probably damaging |
Het |
| Ccr3 |
G |
A |
9: 124,028,793 (GRCm38) |
G55D |
probably damaging |
Het |
| Cdipt |
T |
A |
7: 126,979,532 (GRCm38) |
|
probably null |
Het |
| Cep19 |
A |
G |
16: 32,103,898 (GRCm38) |
|
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,201,812 (GRCm38) |
M56L |
probably benign |
Het |
| Cyp3a11 |
C |
A |
5: 145,865,977 (GRCm38) |
M235I |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,277 (GRCm38) |
D87E |
possibly damaging |
Het |
| Ell |
A |
C |
8: 70,539,707 (GRCm38) |
M1L |
possibly damaging |
Het |
| Esyt3 |
T |
C |
9: 99,358,413 (GRCm38) |
|
probably benign |
Het |
| Ets1 |
T |
C |
9: 32,728,798 (GRCm38) |
|
probably benign |
Het |
| Fam222b |
T |
A |
11: 78,155,032 (GRCm38) |
M473K |
probably benign |
Het |
| Fanca |
T |
C |
8: 123,303,963 (GRCm38) |
|
probably benign |
Het |
| Fbrsl1 |
G |
T |
5: 110,381,618 (GRCm38) |
A67D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 37,961,327 (GRCm38) |
P622L |
probably damaging |
Het |
| Gal3st2c |
T |
G |
1: 94,008,301 (GRCm38) |
|
probably null |
Het |
| Gins2 |
T |
G |
8: 120,581,747 (GRCm38) |
H166P |
possibly damaging |
Het |
| Gm10118 |
A |
T |
10: 63,927,066 (GRCm38) |
|
probably benign |
Het |
| Gm9979 |
A |
T |
13: 40,705,813 (GRCm38) |
|
noncoding transcript |
Het |
| Hspbap1 |
A |
G |
16: 35,801,663 (GRCm38) |
Y126C |
probably damaging |
Het |
| Hspd1 |
A |
T |
1: 55,084,769 (GRCm38) |
I64N |
probably damaging |
Het |
| Igkv3-4 |
A |
T |
6: 70,672,283 (GRCm38) |
S89C |
probably damaging |
Het |
| Il10ra |
T |
A |
9: 45,265,626 (GRCm38) |
K134* |
probably null |
Het |
| Il12rb1 |
G |
A |
8: 70,813,767 (GRCm38) |
C252Y |
possibly damaging |
Het |
| Il24 |
A |
T |
1: 130,882,516 (GRCm38) |
V201E |
possibly damaging |
Het |
| Inpp1 |
A |
G |
1: 52,794,661 (GRCm38) |
I92T |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,976,689 (GRCm38) |
D535G |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,715,885 (GRCm38) |
I240F |
probably damaging |
Het |
| Kctd17 |
G |
A |
15: 78,437,302 (GRCm38) |
|
probably benign |
Het |
| Leo1 |
T |
A |
9: 75,457,141 (GRCm38) |
I521N |
possibly damaging |
Het |
| Mdga1 |
A |
G |
17: 29,839,867 (GRCm38) |
L722P |
probably damaging |
Het |
| Met |
G |
T |
6: 17,548,782 (GRCm38) |
V942L |
probably benign |
Het |
| Mfn1 |
A |
T |
3: 32,563,847 (GRCm38) |
T110S |
probably benign |
Het |
| Mrps15 |
T |
C |
4: 126,048,695 (GRCm38) |
I79T |
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,123,355 (GRCm38) |
M4497R |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,879,352 (GRCm38) |
S362T |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,120,048 (GRCm38) |
F1209L |
probably benign |
Het |
| Nab2 |
T |
C |
10: 127,664,657 (GRCm38) |
S189G |
probably damaging |
Het |
| Naxe |
A |
C |
3: 88,056,533 (GRCm38) |
|
probably null |
Het |
| Ncf1 |
A |
G |
5: 134,223,501 (GRCm38) |
V232A |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 50,279,611 (GRCm38) |
Y422C |
probably damaging |
Het |
| Nmnat2 |
G |
T |
1: 153,094,061 (GRCm38) |
G176V |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,454,842 (GRCm38) |
S999P |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,375,255 (GRCm38) |
D323G |
probably benign |
Het |
| Or4d10b |
A |
G |
19: 12,059,278 (GRCm38) |
V158A |
probably benign |
Het |
| Or5h23 |
A |
G |
16: 59,085,997 (GRCm38) |
F162S |
probably benign |
Het |
| Or8b3b |
T |
A |
9: 38,672,965 (GRCm38) |
T160S |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,272,168 (GRCm38) |
S342P |
probably damaging |
Het |
| Pag1 |
A |
T |
3: 9,699,422 (GRCm38) |
Y224N |
probably damaging |
Het |
| Pald1 |
T |
A |
10: 61,343,710 (GRCm38) |
H460L |
probably damaging |
Het |
| Per2 |
G |
A |
1: 91,427,856 (GRCm38) |
Q727* |
probably null |
Het |
| Pex19 |
T |
C |
1: 172,133,212 (GRCm38) |
V134A |
probably benign |
Het |
| Phlpp1 |
A |
T |
1: 106,392,927 (GRCm38) |
I1551F |
possibly damaging |
Het |
| Ppef2 |
A |
T |
5: 92,239,139 (GRCm38) |
V313D |
probably damaging |
Het |
| Prorp |
T |
C |
12: 55,304,472 (GRCm38) |
S189P |
possibly damaging |
Het |
| Pzp |
A |
C |
6: 128,523,796 (GRCm38) |
F153C |
probably damaging |
Het |
| Rasl11a |
A |
G |
5: 146,845,242 (GRCm38) |
H9R |
probably benign |
Het |
| Rfx3 |
A |
T |
19: 27,802,380 (GRCm38) |
|
probably null |
Het |
| Rmnd5b |
A |
T |
11: 51,627,962 (GRCm38) |
I68N |
probably damaging |
Het |
| Senp5 |
T |
A |
16: 31,989,513 (GRCm38) |
S281C |
probably damaging |
Het |
| Sh3rf1 |
G |
A |
8: 61,361,732 (GRCm38) |
E442K |
probably benign |
Het |
| Slc12a3 |
G |
A |
8: 94,345,788 (GRCm38) |
V645M |
probably damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,581,341 (GRCm38) |
F193L |
possibly damaging |
Het |
| Slc35f1 |
A |
T |
10: 53,108,178 (GRCm38) |
T345S |
possibly damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,421,563 (GRCm38) |
R704H |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,175,770 (GRCm38) |
Y89F |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,474,491 (GRCm38) |
E2741G |
probably damaging |
Het |
| Strn4 |
G |
A |
7: 16,833,874 (GRCm38) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,923,306 (GRCm38) |
T1859A |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,525,045 (GRCm38) |
Y3N |
probably damaging |
Het |
| Tdrd9 |
C |
A |
12: 112,051,980 (GRCm38) |
R1278S |
probably benign |
Het |
| Tenm4 |
G |
T |
7: 96,797,400 (GRCm38) |
A826S |
possibly damaging |
Het |
| Tenm4 |
C |
A |
7: 96,797,401 (GRCm38) |
A826E |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,476,480 (GRCm38) |
|
probably null |
Het |
| Tfec |
A |
G |
6: 16,834,200 (GRCm38) |
L236P |
probably benign |
Het |
| Tjap1 |
A |
G |
17: 46,258,871 (GRCm38) |
S388P |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,124,971 (GRCm38) |
T554A |
possibly damaging |
Het |
| Tmem17 |
G |
A |
11: 22,517,450 (GRCm38) |
V83I |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,876,502 (GRCm38) |
H137Y |
probably damaging |
Het |
| Tomm5 |
T |
C |
4: 45,106,679 (GRCm38) |
|
probably benign |
Het |
| Top3b |
T |
A |
16: 16,891,577 (GRCm38) |
|
probably benign |
Het |
| Tph1 |
T |
C |
7: 46,653,792 (GRCm38) |
H254R |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,351,452 (GRCm38) |
Y487H |
probably damaging |
Het |
| Trappc13 |
T |
A |
13: 104,148,241 (GRCm38) |
D241V |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,782,265 (GRCm38) |
I193V |
probably benign |
Het |
| Tspear |
A |
T |
10: 77,870,365 (GRCm38) |
H323L |
probably benign |
Het |
| Ttc39a |
A |
T |
4: 109,432,987 (GRCm38) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Tubg1 |
A |
G |
11: 101,124,032 (GRCm38) |
D200G |
probably damaging |
Het |
| Ugdh |
C |
A |
5: 65,422,874 (GRCm38) |
|
probably benign |
Het |
| Uso1 |
A |
G |
5: 92,180,608 (GRCm38) |
N355D |
probably benign |
Het |
| Vamp4 |
T |
C |
1: 162,592,679 (GRCm38) |
|
probably null |
Het |
| Vmn2r5 |
T |
C |
3: 64,504,076 (GRCm38) |
D357G |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 33,961,221 (GRCm38) |
T300A |
probably benign |
Het |
| Wt1 |
A |
T |
2: 105,127,284 (GRCm38) |
H163L |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,514,035 (GRCm38) |
S2207P |
probably benign |
Het |
| Xpo6 |
A |
T |
7: 126,107,078 (GRCm38) |
I30N |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,059,727 (GRCm38) |
I320K |
probably benign |
Het |
|
| Other mutations in C4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:C4b
|
APN |
17 |
34,734,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00433:C4b
|
APN |
17 |
34,742,041 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL00471:C4b
|
APN |
17 |
34,734,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00515:C4b
|
APN |
17 |
34,728,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01599:C4b
|
APN |
17 |
34,743,019 (GRCm38) |
splice site |
probably benign |
|
|
IGL01761:C4b
|
APN |
17 |
34,739,938 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
IGL02004:C4b
|
APN |
17 |
34,739,010 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02215:C4b
|
APN |
17 |
34,734,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02517:C4b
|
APN |
17 |
34,734,408 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02926:C4b
|
APN |
17 |
34,730,712 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03031:C4b
|
APN |
17 |
34,731,130 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL03057:C4b
|
APN |
17 |
34,737,764 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03165:C4b
|
APN |
17 |
34,739,955 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL03380:C4b
|
APN |
17 |
34,740,286 (GRCm38) |
missense |
probably benign |
0.01 |
|
Aspiration
|
UTSW |
17 |
34,734,442 (GRCm38) |
missense |
probably benign |
0.00 |
|
Inspiration
|
UTSW |
17 |
34,732,166 (GRCm38) |
splice site |
probably null |
|
|
Peroration
|
UTSW |
17 |
34,729,399 (GRCm38) |
critical splice donor site |
probably null |
|
|
perspiration
|
UTSW |
17 |
34,729,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4548:C4b
|
UTSW |
17 |
34,740,997 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4142001:C4b
|
UTSW |
17 |
34,733,701 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0064:C4b
|
UTSW |
17 |
34,738,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0113:C4b
|
UTSW |
17 |
34,741,240 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0143:C4b
|
UTSW |
17 |
34,734,219 (GRCm38) |
unclassified |
probably benign |
|
|
R0254:C4b
|
UTSW |
17 |
34,734,776 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0320:C4b
|
UTSW |
17 |
34,733,161 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0391:C4b
|
UTSW |
17 |
34,735,614 (GRCm38) |
splice site |
probably benign |
|
|
R0399:C4b
|
UTSW |
17 |
34,728,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0467:C4b
|
UTSW |
17 |
34,736,127 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0549:C4b
|
UTSW |
17 |
34,735,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0561:C4b
|
UTSW |
17 |
34,734,417 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0662:C4b
|
UTSW |
17 |
34,730,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0941:C4b
|
UTSW |
17 |
34,740,055 (GRCm38) |
missense |
probably benign |
|
|
R1161:C4b
|
UTSW |
17 |
34,729,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1169:C4b
|
UTSW |
17 |
34,742,972 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1186:C4b
|
UTSW |
17 |
34,736,309 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1310:C4b
|
UTSW |
17 |
34,729,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1398:C4b
|
UTSW |
17 |
34,730,719 (GRCm38) |
unclassified |
probably benign |
|
|
R1472:C4b
|
UTSW |
17 |
34,743,769 (GRCm38) |
nonsense |
probably null |
|
|
R1496:C4b
|
UTSW |
17 |
34,740,021 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1544:C4b
|
UTSW |
17 |
34,738,967 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1588:C4b
|
UTSW |
17 |
34,741,025 (GRCm38) |
missense |
probably benign |
|
|
R1645:C4b
|
UTSW |
17 |
34,740,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1664:C4b
|
UTSW |
17 |
34,732,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1678:C4b
|
UTSW |
17 |
34,743,650 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1710:C4b
|
UTSW |
17 |
34,743,664 (GRCm38) |
splice site |
probably benign |
|
|
R1713:C4b
|
UTSW |
17 |
34,729,271 (GRCm38) |
splice site |
probably benign |
|
|
R1770:C4b
|
UTSW |
17 |
34,736,927 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1859:C4b
|
UTSW |
17 |
34,735,553 (GRCm38) |
missense |
probably benign |
|
|
R1924:C4b
|
UTSW |
17 |
34,729,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2057:C4b
|
UTSW |
17 |
34,728,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2060:C4b
|
UTSW |
17 |
34,736,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2184:C4b
|
UTSW |
17 |
34,737,702 (GRCm38) |
missense |
probably benign |
0.27 |
|
R2306:C4b
|
UTSW |
17 |
34,728,518 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2363:C4b
|
UTSW |
17 |
34,736,058 (GRCm38) |
splice site |
probably benign |
|
|
R2365:C4b
|
UTSW |
17 |
34,736,058 (GRCm38) |
splice site |
probably benign |
|
|
R2379:C4b
|
UTSW |
17 |
34,735,743 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2860:C4b
|
UTSW |
17 |
34,734,758 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2861:C4b
|
UTSW |
17 |
34,734,758 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3551:C4b
|
UTSW |
17 |
34,741,872 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R3765:C4b
|
UTSW |
17 |
34,729,840 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4157:C4b
|
UTSW |
17 |
34,742,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4299:C4b
|
UTSW |
17 |
34,731,144 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R4365:C4b
|
UTSW |
17 |
34,734,743 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4411:C4b
|
UTSW |
17 |
34,728,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4613:C4b
|
UTSW |
17 |
34,734,551 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4784:C4b
|
UTSW |
17 |
34,733,406 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4790:C4b
|
UTSW |
17 |
34,734,143 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4831:C4b
|
UTSW |
17 |
34,736,890 (GRCm38) |
splice site |
probably null |
|
|
R4879:C4b
|
UTSW |
17 |
34,743,647 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5036:C4b
|
UTSW |
17 |
34,740,445 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5361:C4b
|
UTSW |
17 |
34,741,238 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5384:C4b
|
UTSW |
17 |
34,737,661 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5518:C4b
|
UTSW |
17 |
34,734,442 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5643:C4b
|
UTSW |
17 |
34,742,417 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5644:C4b
|
UTSW |
17 |
34,742,417 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5833:C4b
|
UTSW |
17 |
34,730,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5931:C4b
|
UTSW |
17 |
34,729,193 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6178:C4b
|
UTSW |
17 |
34,733,406 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6209:C4b
|
UTSW |
17 |
34,741,087 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6225:C4b
|
UTSW |
17 |
34,738,874 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6518:C4b
|
UTSW |
17 |
34,734,205 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6613:C4b
|
UTSW |
17 |
34,733,565 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6781:C4b
|
UTSW |
17 |
34,742,954 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6807:C4b
|
UTSW |
17 |
34,730,956 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6858:C4b
|
UTSW |
17 |
34,729,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6962:C4b
|
UTSW |
17 |
34,732,166 (GRCm38) |
splice site |
probably null |
|
|
R7068:C4b
|
UTSW |
17 |
34,733,477 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7081:C4b
|
UTSW |
17 |
34,735,443 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7105:C4b
|
UTSW |
17 |
34,730,911 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7211:C4b
|
UTSW |
17 |
34,735,534 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7296:C4b
|
UTSW |
17 |
34,743,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7314:C4b
|
UTSW |
17 |
34,740,356 (GRCm38) |
missense |
probably benign |
|
|
R7330:C4b
|
UTSW |
17 |
34,730,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7397:C4b
|
UTSW |
17 |
34,742,390 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7437:C4b
|
UTSW |
17 |
34,734,733 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7490:C4b
|
UTSW |
17 |
34,731,080 (GRCm38) |
nonsense |
probably null |
|
|
R7597:C4b
|
UTSW |
17 |
34,739,675 (GRCm38) |
missense |
probably benign |
|
|
R7633:C4b
|
UTSW |
17 |
34,729,399 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7900:C4b
|
UTSW |
17 |
34,739,777 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7910:C4b
|
UTSW |
17 |
34,740,352 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7923:C4b
|
UTSW |
17 |
34,742,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7960:C4b
|
UTSW |
17 |
34,741,278 (GRCm38) |
splice site |
probably null |
|
|
R8420:C4b
|
UTSW |
17 |
34,734,539 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8467:C4b
|
UTSW |
17 |
34,732,813 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8558:C4b
|
UTSW |
17 |
34,736,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8725:C4b
|
UTSW |
17 |
34,734,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8727:C4b
|
UTSW |
17 |
34,734,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8853:C4b
|
UTSW |
17 |
34,729,905 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8934:C4b
|
UTSW |
17 |
34,732,984 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8944:C4b
|
UTSW |
17 |
34,742,939 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8960:C4b
|
UTSW |
17 |
34,733,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8982:C4b
|
UTSW |
17 |
34,734,364 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9104:C4b
|
UTSW |
17 |
34,729,259 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9114:C4b
|
UTSW |
17 |
34,729,430 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9348:C4b
|
UTSW |
17 |
34,733,185 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9428:C4b
|
UTSW |
17 |
34,730,911 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9533:C4b
|
UTSW |
17 |
34,737,724 (GRCm38) |
nonsense |
probably null |
|
|
R9591:C4b
|
UTSW |
17 |
34,738,955 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9678:C4b
|
UTSW |
17 |
34,741,789 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1176:C4b
|
UTSW |
17 |
34,731,147 (GRCm38) |
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