Incidental Mutation 'R7802:Serpinb6b'
| ID |
600582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb6b
|
| Ensembl Gene |
ENSMUSG00000042842 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6b |
| Synonyms |
NK13, ovalbumin, Spi12 |
| MMRRC Submission |
045857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R7802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33149192-33163050 bp(+) (GRCm39) |
| Type of Mutation |
|
| DNA Base Change (assembly) |
C to T
at 33155579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
O08804 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,650,438 (GRCm39) |
V12A |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,165,518 (GRCm39) |
F983S |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,720,808 (GRCm39) |
I312T |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,439,632 (GRCm39) |
W711R |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 33,961,227 (GRCm39) |
F436L |
probably benign |
Het |
| Epha1 |
C |
T |
6: 42,338,875 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Ercc6 |
C |
A |
14: 32,239,260 (GRCm39) |
A116E |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,281,423 (GRCm39) |
E611G |
probably benign |
Het |
| Galnt16 |
T |
G |
12: 80,628,021 (GRCm39) |
I239S |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,175 (GRCm39) |
R76G |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,813,838 (GRCm39) |
Y2657C |
probably damaging |
Het |
| Mapkapk2 |
T |
C |
1: 130,984,639 (GRCm39) |
I238V |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,866,655 (GRCm39) |
S570P |
probably benign |
Het |
| Mrap |
C |
T |
16: 90,546,247 (GRCm39) |
T112M |
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,359,763 (GRCm39) |
Q403R |
probably benign |
Het |
| Nostrin |
T |
C |
2: 69,019,356 (GRCm39) |
V467A |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,710,119 (GRCm39) |
|
probably null |
Het |
| Parp16 |
A |
G |
9: 65,137,179 (GRCm39) |
N135S |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,211,137 (GRCm39) |
|
probably null |
Het |
| Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Psmc5 |
T |
C |
11: 106,152,538 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
T |
7: 97,310,979 (GRCm39) |
V570F |
|
Het |
| Rundc3a |
A |
G |
11: 102,290,835 (GRCm39) |
E306G |
probably benign |
Het |
| Setx |
A |
G |
2: 29,037,033 (GRCm39) |
T1173A |
probably benign |
Het |
| Slamf8 |
A |
G |
1: 172,415,677 (GRCm39) |
S54P |
probably damaging |
Het |
| Slc5a2 |
A |
C |
7: 127,870,970 (GRCm39) |
D570A |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 13,060,700 (GRCm39) |
Q7L |
possibly damaging |
Het |
| Stt3b |
G |
T |
9: 115,105,949 (GRCm39) |
S175R |
probably damaging |
Het |
| Taar6 |
T |
A |
10: 23,861,151 (GRCm39) |
I132F |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,689,500 (GRCm39) |
V2029A |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,880,401 (GRCm39) |
|
probably benign |
Het |
| Tmt1a |
A |
T |
15: 100,203,182 (GRCm39) |
N152I |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,013,758 (GRCm39) |
C336* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,768,015 (GRCm39) |
T3028M |
unknown |
Het |
| Vmn2r25 |
A |
T |
6: 123,828,791 (GRCm39) |
I161N |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,643,640 (GRCm39) |
C2394R |
|
Het |
|
| Other mutations in Serpinb6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Serpinb6b
|
APN |
13 |
33,155,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01077:Serpinb6b
|
APN |
13 |
33,162,049 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01553:Serpinb6b
|
APN |
13 |
33,158,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Serpinb6b
|
APN |
13 |
33,155,589 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0308:Serpinb6b
|
UTSW |
13 |
33,162,220 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1568:Serpinb6b
|
UTSW |
13 |
33,158,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Serpinb6b
|
UTSW |
13 |
33,158,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Serpinb6b
|
UTSW |
13 |
33,162,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
|
R1918:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
|
R1919:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
|
R1920:Serpinb6b
|
UTSW |
13 |
33,158,991 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3032:Serpinb6b
|
UTSW |
13 |
33,152,551 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4239:Serpinb6b
|
UTSW |
13 |
33,156,246 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5089:Serpinb6b
|
UTSW |
13 |
33,162,133 (GRCm39) |
missense |
probably benign |
|
|
R5503:Serpinb6b
|
UTSW |
13 |
33,161,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5540:Serpinb6b
|
UTSW |
13 |
33,161,541 (GRCm39) |
nonsense |
probably null |
|
|
R6061:Serpinb6b
|
UTSW |
13 |
33,161,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6253:Serpinb6b
|
UTSW |
13 |
33,156,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Serpinb6b
|
UTSW |
13 |
33,155,598 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7248:Serpinb6b
|
UTSW |
13 |
33,161,559 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7315:Serpinb6b
|
UTSW |
13 |
33,156,240 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7424:Serpinb6b
|
UTSW |
13 |
33,152,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7547:Serpinb6b
|
UTSW |
13 |
33,158,907 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7732:Serpinb6b
|
UTSW |
13 |
33,152,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Serpinb6b
|
UTSW |
13 |
33,161,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8814:Serpinb6b
|
UTSW |
13 |
33,162,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8966:Serpinb6b
|
UTSW |
13 |
33,162,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Serpinb6b
|
UTSW |
13 |
33,162,125 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9037:Serpinb6b
|
UTSW |
13 |
33,161,998 (GRCm39) |
nonsense |
probably null |
|
|
R9129:Serpinb6b
|
UTSW |
13 |
33,162,139 (GRCm39) |
small deletion |
probably benign |
|
|
R9377:Serpinb6b
|
UTSW |
13 |
33,152,494 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9415:Serpinb6b
|
UTSW |
13 |
33,159,002 (GRCm39) |
missense |
|
|
|
R9632:Serpinb6b
|
UTSW |
13 |
33,155,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
|
| Posted On |
2019-11-26 |
Incidental Mutation