Incidental Mutation 'R6948:Serpinb9d'
ID |
540981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb9d
|
Ensembl Gene |
ENSMUSG00000054266 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9d |
Synonyms |
Spi9, AT2, ovalbumin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6948 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
33376942-33387112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33384706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 228
(S228G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067198]
|
AlphaFold |
Q8BMT0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067198
AA Change: S228G
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000067710 Gene: ENSMUSG00000054266 AA Change: S228G
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
1.79e-167 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgap2 |
A |
G |
2: 91,097,524 (GRCm39) |
T107A |
probably benign |
Het |
Calhm3 |
T |
A |
19: 47,140,344 (GRCm39) |
M250L |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,447,327 (GRCm39) |
I276L |
probably benign |
Het |
Cd70 |
T |
C |
17: 57,456,594 (GRCm39) |
E3G |
probably damaging |
Het |
Cenpj |
A |
T |
14: 56,790,683 (GRCm39) |
S455R |
probably damaging |
Het |
Cgn |
C |
G |
3: 94,680,531 (GRCm39) |
E590D |
probably benign |
Het |
Cpvl |
T |
A |
6: 53,873,468 (GRCm39) |
I423F |
possibly damaging |
Het |
Cyp2c54 |
T |
A |
19: 40,034,636 (GRCm39) |
M345L |
possibly damaging |
Het |
Dner |
T |
C |
1: 84,383,738 (GRCm39) |
N549D |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,063,595 (GRCm39) |
L4517Q |
probably damaging |
Het |
Fbxw11 |
A |
G |
11: 32,692,597 (GRCm39) |
T523A |
probably damaging |
Het |
Flg |
A |
G |
3: 93,195,475 (GRCm39) |
|
probably benign |
Het |
Gcfc2 |
A |
G |
6: 81,910,734 (GRCm39) |
E237G |
probably benign |
Het |
Ipo5 |
G |
T |
14: 121,160,527 (GRCm39) |
M181I |
probably benign |
Het |
Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
Klhl32 |
A |
G |
4: 24,629,250 (GRCm39) |
Y506H |
probably benign |
Het |
Mast3 |
G |
A |
8: 71,238,126 (GRCm39) |
T505I |
probably damaging |
Het |
Mrgprx2 |
A |
T |
7: 48,132,464 (GRCm39) |
V118D |
possibly damaging |
Het |
Mtor |
T |
G |
4: 148,621,209 (GRCm39) |
V1869G |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,522,703 (GRCm39) |
M720K |
possibly damaging |
Het |
Npy4r |
A |
G |
14: 33,868,731 (GRCm39) |
Y186H |
probably benign |
Het |
Obscn |
A |
G |
11: 58,997,142 (GRCm39) |
S1520P |
probably damaging |
Het |
Or10g1b |
A |
T |
14: 52,627,614 (GRCm39) |
F205L |
probably benign |
Het |
Pex1 |
A |
G |
5: 3,655,994 (GRCm39) |
N274D |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,945,702 (GRCm39) |
Y2078H |
probably damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,129,085 (GRCm39) |
D178G |
probably damaging |
Het |
Reln |
A |
G |
5: 22,177,033 (GRCm39) |
S1878P |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,374,737 (GRCm39) |
V1033A |
probably benign |
Het |
Scaf1 |
G |
T |
7: 44,662,971 (GRCm39) |
S14* |
probably null |
Het |
Slc22a14 |
C |
A |
9: 119,060,482 (GRCm39) |
A93S |
probably damaging |
Het |
Sox30 |
G |
A |
11: 45,908,166 (GRCm39) |
V778M |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,457,097 (GRCm39) |
I128V |
probably benign |
Het |
Trip10 |
T |
A |
17: 57,569,448 (GRCm39) |
C491S |
probably damaging |
Het |
Vmn1r26 |
A |
T |
6: 57,985,718 (GRCm39) |
M157K |
probably damaging |
Het |
Zbtb1 |
A |
T |
12: 76,432,601 (GRCm39) |
S196C |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,662,187 (GRCm39) |
D582G |
possibly damaging |
Het |
Zfp384 |
A |
G |
6: 125,001,873 (GRCm39) |
T125A |
probably benign |
Het |
Zpr1 |
T |
G |
9: 46,184,939 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Serpinb9d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01516:Serpinb9d
|
APN |
13 |
33,386,654 (GRCm39) |
splice site |
probably null |
|
IGL01610:Serpinb9d
|
APN |
13 |
33,381,985 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01702:Serpinb9d
|
APN |
13 |
33,387,006 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01833:Serpinb9d
|
APN |
13 |
33,384,688 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02029:Serpinb9d
|
APN |
13 |
33,380,512 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL03013:Serpinb9d
|
APN |
13 |
33,380,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03027:Serpinb9d
|
APN |
13 |
33,386,698 (GRCm39) |
nonsense |
probably null |
|
IGL03056:Serpinb9d
|
APN |
13 |
33,386,736 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03189:Serpinb9d
|
APN |
13 |
33,386,895 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03206:Serpinb9d
|
APN |
13 |
33,382,014 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0217:Serpinb9d
|
UTSW |
13 |
33,382,005 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0370:Serpinb9d
|
UTSW |
13 |
33,379,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R1174:Serpinb9d
|
UTSW |
13 |
33,384,608 (GRCm39) |
missense |
probably benign |
0.23 |
R1175:Serpinb9d
|
UTSW |
13 |
33,384,608 (GRCm39) |
missense |
probably benign |
0.23 |
R1711:Serpinb9d
|
UTSW |
13 |
33,384,731 (GRCm39) |
missense |
probably benign |
0.03 |
R1716:Serpinb9d
|
UTSW |
13 |
33,380,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R1874:Serpinb9d
|
UTSW |
13 |
33,381,946 (GRCm39) |
splice site |
probably null |
|
R2186:Serpinb9d
|
UTSW |
13 |
33,387,030 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2497:Serpinb9d
|
UTSW |
13 |
33,380,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R4198:Serpinb9d
|
UTSW |
13 |
33,386,948 (GRCm39) |
missense |
probably benign |
0.01 |
R4198:Serpinb9d
|
UTSW |
13 |
33,386,657 (GRCm39) |
splice site |
probably null |
|
R4199:Serpinb9d
|
UTSW |
13 |
33,386,657 (GRCm39) |
splice site |
probably null |
|
R4584:Serpinb9d
|
UTSW |
13 |
33,384,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R4650:Serpinb9d
|
UTSW |
13 |
33,386,836 (GRCm39) |
missense |
probably benign |
0.00 |
R5573:Serpinb9d
|
UTSW |
13 |
33,380,423 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5627:Serpinb9d
|
UTSW |
13 |
33,386,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R6336:Serpinb9d
|
UTSW |
13 |
33,378,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R6706:Serpinb9d
|
UTSW |
13 |
33,380,541 (GRCm39) |
missense |
probably benign |
|
R7271:Serpinb9d
|
UTSW |
13 |
33,378,617 (GRCm39) |
missense |
probably benign |
0.43 |
R7336:Serpinb9d
|
UTSW |
13 |
33,384,702 (GRCm39) |
missense |
probably benign |
0.00 |
R7436:Serpinb9d
|
UTSW |
13 |
33,379,916 (GRCm39) |
missense |
probably benign |
0.35 |
R7675:Serpinb9d
|
UTSW |
13 |
33,386,759 (GRCm39) |
nonsense |
probably null |
|
R7874:Serpinb9d
|
UTSW |
13 |
33,386,654 (GRCm39) |
splice site |
probably null |
|
R9188:Serpinb9d
|
UTSW |
13 |
33,386,843 (GRCm39) |
missense |
probably damaging |
0.99 |
R9775:Serpinb9d
|
UTSW |
13 |
33,382,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGATGTGGAAACCATCTGATTTC -3'
(R):5'- TTTGATCCCAAAGCCCTGTG -3'
Sequencing Primer
(F):5'- TGTGGCAGGAAGACAGATT -3'
(R):5'- GCCCACAGCTTGAAGTTCTG -3'
|
Posted On |
2018-11-28 |