Incidental Mutation 'R4790:C4b'
| ID |
368518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C4b
|
| Ensembl Gene |
ENSMUSG00000073418 |
| Gene Name |
complement C4B (Chido blood group) |
| Synonyms |
Ss, C4 |
| MMRRC Submission |
042418-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4790 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34947354-34962856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34953117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1069
(D1069E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069507]
|
| AlphaFold |
P01029 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069507
AA Change: D1069E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: D1069E
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,202,236 (GRCm39) |
T390P |
possibly damaging |
Het |
| Acss3 |
A |
T |
10: 106,859,563 (GRCm39) |
Y345* |
probably null |
Het |
| Adam26b |
A |
T |
8: 43,973,764 (GRCm39) |
S413T |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,764,098 (GRCm39) |
Q148L |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,823,981 (GRCm39) |
Y883* |
probably null |
Het |
| Ankrd52 |
A |
G |
10: 128,216,814 (GRCm39) |
K190E |
possibly damaging |
Het |
| Anks1b |
A |
G |
10: 89,999,137 (GRCm39) |
R415G |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,715,264 (GRCm39) |
Q58L |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,907,486 (GRCm39) |
I162N |
probably damaging |
Het |
| Arhgap39 |
A |
T |
15: 76,610,931 (GRCm39) |
M924K |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,741,008 (GRCm39) |
M910V |
possibly damaging |
Het |
| BC051019 |
T |
A |
7: 109,315,553 (GRCm39) |
H86L |
probably benign |
Het |
| C1qbp |
G |
A |
11: 70,870,856 (GRCm39) |
Q151* |
probably null |
Het |
| Casp1 |
C |
T |
9: 5,303,020 (GRCm39) |
T158I |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,044,404 (GRCm39) |
D141G |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 57,937,240 (GRCm39) |
E653V |
probably damaging |
Het |
| Cd180 |
C |
T |
13: 102,839,330 (GRCm39) |
T71M |
probably damaging |
Het |
| Cdk4 |
T |
C |
10: 126,900,570 (GRCm39) |
L112P |
probably damaging |
Het |
| Celf2 |
A |
G |
2: 6,554,714 (GRCm39) |
F425S |
probably damaging |
Het |
| Chrm3 |
A |
T |
13: 9,927,698 (GRCm39) |
V446E |
probably benign |
Het |
| Chst9 |
A |
T |
18: 15,586,107 (GRCm39) |
L152H |
probably damaging |
Het |
| Cib2 |
A |
G |
9: 54,457,087 (GRCm39) |
|
probably null |
Het |
| Clec18a |
T |
C |
8: 111,798,717 (GRCm39) |
S366G |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,997,983 (GRCm39) |
F34L |
probably damaging |
Het |
| Dapk1 |
AT |
A |
13: 60,870,919 (GRCm39) |
|
probably null |
Het |
| Ddi1 |
T |
A |
9: 6,265,761 (GRCm39) |
M203L |
probably benign |
Het |
| Ddx20 |
G |
T |
3: 105,590,485 (GRCm39) |
S270R |
probably benign |
Het |
| Eddm13 |
A |
T |
7: 6,269,317 (GRCm39) |
K31* |
probably null |
Het |
| Espnl |
A |
T |
1: 91,272,146 (GRCm39) |
E458V |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,909,780 (GRCm39) |
D2074G |
probably damaging |
Het |
| Fcf1 |
A |
G |
12: 85,020,902 (GRCm39) |
T61A |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,226,234 (GRCm39) |
R772G |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,905,661 (GRCm38) |
V1137A |
probably benign |
Het |
| Fosb |
C |
A |
7: 19,043,313 (GRCm39) |
C15F |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,424,162 (GRCm39) |
W3092R |
probably benign |
Het |
| Gm3248 |
T |
C |
14: 5,945,831 (GRCm38) |
I28V |
probably damaging |
Het |
| Gm4922 |
G |
T |
10: 18,659,916 (GRCm39) |
L269I |
possibly damaging |
Het |
| Gucy2e |
G |
A |
11: 69,119,274 (GRCm39) |
R627W |
probably damaging |
Het |
| Hephl1 |
T |
A |
9: 14,970,467 (GRCm39) |
E1009V |
probably damaging |
Het |
| Hsf4 |
A |
T |
8: 105,997,237 (GRCm39) |
Q61L |
probably damaging |
Het |
| Itgam |
T |
A |
7: 127,715,445 (GRCm39) |
N1046K |
probably benign |
Het |
| Itgav |
G |
A |
2: 83,586,154 (GRCm39) |
C138Y |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,611,867 (GRCm39) |
Y157F |
probably damaging |
Het |
| Kcnt2 |
C |
T |
1: 140,282,254 (GRCm39) |
R80C |
probably damaging |
Het |
| Kdm4b |
G |
A |
17: 56,708,618 (GRCm39) |
V986M |
probably damaging |
Het |
| Lamb3 |
T |
A |
1: 193,022,194 (GRCm39) |
V1014D |
probably damaging |
Het |
| Lrrc74b |
G |
T |
16: 17,367,717 (GRCm39) |
N282K |
probably damaging |
Het |
| Map3k20 |
T |
A |
2: 72,272,048 (GRCm39) |
H725Q |
probably benign |
Het |
| Mink1 |
A |
G |
11: 70,489,867 (GRCm39) |
N81S |
probably damaging |
Het |
| Mmp21 |
A |
G |
7: 133,276,759 (GRCm39) |
Y415H |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,466,873 (GRCm39) |
W1297R |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,170,789 (GRCm39) |
M95T |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,133,158 (GRCm39) |
|
probably null |
Het |
| Nanog |
A |
G |
6: 122,684,874 (GRCm39) |
M20V |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,146 (GRCm39) |
I484V |
probably benign |
Het |
| Ndufa12 |
A |
T |
10: 94,056,620 (GRCm39) |
N116I |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,337,016 (GRCm39) |
I668V |
possibly damaging |
Het |
| Nhsl3 |
C |
A |
4: 129,117,095 (GRCm39) |
R523L |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,282,480 (GRCm39) |
D309G |
probably benign |
Het |
| Npnt |
A |
G |
3: 132,596,523 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
C |
17: 90,762,477 (GRCm39) |
Y2D |
possibly damaging |
Het |
| Obox6 |
G |
T |
7: 15,568,502 (GRCm39) |
P125T |
possibly damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,633 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or2ag15 |
C |
G |
7: 106,340,998 (GRCm39) |
V48L |
probably benign |
Het |
| Or4s2b |
T |
A |
2: 88,508,731 (GRCm39) |
N177K |
possibly damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,844 (GRCm39) |
|
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,821 (GRCm39) |
V13D |
probably damaging |
Het |
| Or5an10 |
A |
G |
19: 12,276,305 (GRCm39) |
Y64H |
possibly damaging |
Het |
| Or8k32 |
T |
C |
2: 86,369,224 (GRCm39) |
T10A |
possibly damaging |
Het |
| Osm |
A |
T |
11: 4,188,435 (GRCm39) |
M21L |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,657,894 (GRCm39) |
|
probably null |
Het |
| Otud4 |
T |
G |
8: 80,393,402 (GRCm39) |
S493A |
possibly damaging |
Het |
| Pars2 |
A |
G |
4: 106,508,308 (GRCm39) |
|
probably benign |
Het |
| Phlda3 |
T |
A |
1: 135,694,557 (GRCm39) |
V124E |
possibly damaging |
Het |
| Pias4 |
T |
C |
10: 80,993,326 (GRCm39) |
D199G |
probably damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,739,777 (GRCm39) |
L375P |
probably benign |
Het |
| Pole2 |
T |
C |
12: 69,273,139 (GRCm39) |
I48V |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,538,050 (GRCm39) |
R527G |
unknown |
Het |
| Rasgrf2 |
G |
T |
13: 92,136,135 (GRCm39) |
N592K |
probably damaging |
Het |
| Rbm7 |
A |
G |
9: 48,406,474 (GRCm39) |
L26P |
probably damaging |
Het |
| Rhag |
A |
G |
17: 41,142,181 (GRCm39) |
H208R |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,671,812 (GRCm39) |
E268G |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,146,252 (GRCm39) |
V23A |
probably benign |
Het |
| Rnf7 |
A |
T |
9: 96,360,472 (GRCm39) |
V55D |
probably damaging |
Het |
| Sdr9c7 |
C |
A |
10: 127,739,448 (GRCm39) |
R188S |
possibly damaging |
Het |
| Senp6 |
T |
A |
9: 79,997,140 (GRCm39) |
N51K |
probably benign |
Het |
| Skint3 |
C |
A |
4: 112,113,095 (GRCm39) |
T235K |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,096 (GRCm39) |
F188S |
probably damaging |
Het |
| Slc41a1 |
G |
A |
1: 131,758,690 (GRCm39) |
G111R |
probably damaging |
Het |
| Smarca1 |
T |
C |
X: 46,972,944 (GRCm39) |
D132G |
probably null |
Het |
| Snrnp48 |
C |
T |
13: 38,405,299 (GRCm39) |
R299W |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,437,705 (GRCm39) |
G1413D |
probably benign |
Het |
| Star |
T |
A |
8: 26,298,644 (GRCm39) |
H16Q |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,206,075 (GRCm39) |
D779G |
probably benign |
Het |
| Sulf2 |
T |
C |
2: 165,931,215 (GRCm39) |
Y264C |
probably damaging |
Het |
| Supt7l |
A |
G |
5: 31,680,248 (GRCm39) |
S6P |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,067,165 (GRCm39) |
D4289G |
probably benign |
Het |
| Szrd1 |
A |
T |
4: 140,867,001 (GRCm39) |
|
probably null |
Het |
| Tada1 |
T |
C |
1: 166,219,523 (GRCm39) |
V275A |
possibly damaging |
Het |
| Tbr1 |
A |
T |
2: 61,641,932 (GRCm39) |
Y136F |
probably benign |
Het |
| Tbx20 |
T |
A |
9: 24,637,010 (GRCm39) |
H359L |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,899,314 (GRCm39) |
D560E |
probably damaging |
Het |
| Tnfsf14 |
T |
C |
17: 57,497,740 (GRCm39) |
H164R |
probably damaging |
Het |
| Trmu |
T |
C |
15: 85,767,006 (GRCm39) |
S72P |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,560,155 (GRCm39) |
Q36K |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,372,083 (GRCm39) |
M844K |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,579,201 (GRCm39) |
Y695C |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,984,009 (GRCm39) |
M269K |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,443 (GRCm39) |
L1448* |
probably null |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,855 (GRCm39) |
H37L |
probably damaging |
Het |
| Vmn2r44 |
T |
C |
7: 8,370,949 (GRCm39) |
N699S |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 86,005,486 (GRCm39) |
|
probably null |
Het |
| Yipf1 |
G |
T |
4: 107,193,396 (GRCm39) |
|
probably null |
Het |
| Zfp395 |
A |
G |
14: 65,623,990 (GRCm39) |
N153S |
possibly damaging |
Het |
| Zfp395 |
A |
G |
14: 65,630,656 (GRCm39) |
D402G |
probably damaging |
Het |
| Zfp652 |
T |
C |
11: 95,640,435 (GRCm39) |
V120A |
probably damaging |
Het |
| Zp3r |
T |
C |
1: 130,510,629 (GRCm39) |
I364M |
probably damaging |
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 |
|
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'- ATGACTGGACATGGGTCGTG -3'
(R):5'- TGAAACAAAGGACCATGCTGTG -3'
Sequencing Primer
(F):5'- TCGTGGAAGGAGCCATCAC -3'
(R):5'- TCTGATCCAAAAAGGTTCTGGG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation