Incidental Mutation 'R1343:Serpinb9h'
ID |
156441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb9h
|
Ensembl Gene |
ENSMUSG00000071452 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9h |
Synonyms |
Gm11397 |
MMRRC Submission |
039408-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R1343 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
33579656-33589128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33588468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 351
(C351Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050276]
|
AlphaFold |
F6V5V4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050276
AA Change: C351Y
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000049819 Gene: ENSMUSG00000071452 AA Change: C351Y
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
1.3e-164 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankle2 |
T |
C |
5: 110,385,832 (GRCm39) |
V361A |
probably damaging |
Het |
Art1 |
A |
G |
7: 101,756,160 (GRCm39) |
Y117C |
probably damaging |
Het |
Cecr2 |
T |
C |
6: 120,731,672 (GRCm39) |
Y215H |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,696,069 (GRCm39) |
E2666G |
unknown |
Het |
Cps1 |
T |
A |
1: 67,248,768 (GRCm39) |
V1165E |
probably damaging |
Het |
Gpr65 |
A |
T |
12: 98,241,888 (GRCm39) |
K180N |
probably benign |
Het |
Gsto2 |
A |
T |
19: 47,873,146 (GRCm39) |
|
probably null |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Kif19a |
A |
G |
11: 114,676,653 (GRCm39) |
D494G |
probably benign |
Het |
Lnx1 |
T |
C |
5: 74,758,040 (GRCm39) |
R695G |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,927,272 (GRCm39) |
L327P |
probably damaging |
Het |
Nat8 |
T |
C |
6: 85,807,603 (GRCm39) |
T177A |
probably damaging |
Het |
Nek1 |
T |
A |
8: 61,481,709 (GRCm39) |
M208K |
probably damaging |
Het |
Obsl1 |
G |
T |
1: 75,469,223 (GRCm39) |
H1239Q |
probably damaging |
Het |
Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Prmt3 |
C |
T |
7: 49,467,856 (GRCm39) |
S354L |
probably benign |
Het |
Ralgapa1 |
T |
A |
12: 55,754,763 (GRCm39) |
H1176L |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Strc |
T |
C |
2: 121,195,596 (GRCm39) |
S1618G |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,080,417 (GRCm39) |
S4784P |
probably damaging |
Het |
Usp14 |
T |
C |
18: 10,016,623 (GRCm39) |
T73A |
probably benign |
Het |
Vmn2r53 |
G |
A |
7: 12,318,701 (GRCm39) |
P458L |
probably benign |
Het |
Zfp292 |
T |
C |
4: 34,805,238 (GRCm39) |
D2602G |
probably damaging |
Het |
|
Other mutations in Serpinb9h |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02206:Serpinb9h
|
APN |
13 |
33,588,182 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02662:Serpinb9h
|
APN |
13 |
33,588,513 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0017:Serpinb9h
|
UTSW |
13 |
33,588,494 (GRCm39) |
missense |
probably damaging |
0.99 |
R1757:Serpinb9h
|
UTSW |
13 |
33,583,336 (GRCm39) |
missense |
probably benign |
0.00 |
R1886:Serpinb9h
|
UTSW |
13 |
33,588,203 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5559:Serpinb9h
|
UTSW |
13 |
33,588,301 (GRCm39) |
missense |
probably benign |
|
R5681:Serpinb9h
|
UTSW |
13 |
33,579,812 (GRCm39) |
missense |
probably damaging |
0.98 |
R6189:Serpinb9h
|
UTSW |
13 |
33,588,427 (GRCm39) |
missense |
probably benign |
|
R7585:Serpinb9h
|
UTSW |
13 |
33,588,299 (GRCm39) |
missense |
probably benign |
0.43 |
R7746:Serpinb9h
|
UTSW |
13 |
33,581,841 (GRCm39) |
missense |
probably damaging |
0.98 |
R8786:Serpinb9h
|
UTSW |
13 |
33,588,204 (GRCm39) |
missense |
probably benign |
0.17 |
R8787:Serpinb9h
|
UTSW |
13 |
33,588,204 (GRCm39) |
missense |
probably benign |
0.17 |
R9032:Serpinb9h
|
UTSW |
13 |
33,581,781 (GRCm39) |
missense |
probably damaging |
0.98 |
R9085:Serpinb9h
|
UTSW |
13 |
33,581,781 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Serpinb9h
|
UTSW |
13 |
33,588,493 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTTCGATGGAAGCAAGGCTG -3'
(R):5'- GTCATCTGACCTGGCAAAGGACAC -3'
Sequencing Primer
(F):5'- GGCTGACTTATCAGGAATGTCTAC -3'
(R):5'- ACGGTGAAAGTTCCTTCATCTTG -3'
|
Posted On |
2014-02-11 |