Incidental Mutation 'R0041:Serpinb6d'
| ID |
15504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb6d
|
| Ensembl Gene |
ENSMUSG00000047889 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6d |
| Synonyms |
SPI3D, Gm11390 |
| MMRRC Submission |
038335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R0041 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
33845388-33855564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33851615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 124
(D124G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059637]
[ENSMUST00000221681]
|
| AlphaFold |
Q3UWK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059637
AA Change: D124G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: D124G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
375 |
1.67e-144 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221681
AA Change: D124G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.5171 |
| Coding Region Coverage |
- 1x: 77.6%
- 3x: 65.6%
- 10x: 37.8%
- 20x: 19.1%
|
| Validation Efficiency |
90% (47/52) |
| MGI Phenotype |
FUNCTION: This gene is a member of the large Serpin gene family. Many members of this family act as protease inhibitors, and have a conserved structure including a reactive center loop (RCL) that can act as a bait for protease targets. Unlike some members of this large gene family, the protein encoded by this gene is an intracellular protein, and lacks an N-terminal signal peptide sequence. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
| Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
| Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
| Dlk1 |
G |
C |
12: 109,421,439 (GRCm39) |
G50A |
probably damaging |
Het |
| Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
| Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
| Gigyf2 |
A |
C |
1: 87,306,698 (GRCm39) |
R129S |
probably damaging |
Het |
| Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,869,897 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,817,542 (GRCm39) |
S464P |
probably damaging |
Het |
| Myh1 |
A |
C |
11: 67,099,904 (GRCm39) |
N605H |
possibly damaging |
Het |
| Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,914,074 (GRCm39) |
N1265K |
probably benign |
Het |
| Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
| Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Slco1a1 |
A |
G |
6: 141,864,185 (GRCm39) |
|
probably benign |
Het |
| Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
| Synb |
T |
C |
14: 69,747,926 (GRCm39) |
T193A |
probably damaging |
Het |
| Syt11 |
A |
G |
3: 88,655,210 (GRCm39) |
Y364H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,810,104 (GRCm39) |
H3229L |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
Het |
| Zfp1001 |
A |
G |
2: 150,165,745 (GRCm39) |
I42V |
possibly damaging |
Het |
|
| Other mutations in Serpinb6d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01482:Serpinb6d
|
APN |
13 |
33,855,346 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01611:Serpinb6d
|
APN |
13 |
33,850,375 (GRCm39) |
nonsense |
probably null |
|
|
IGL01946:Serpinb6d
|
APN |
13 |
33,855,369 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02672:Serpinb6d
|
APN |
13 |
33,855,372 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0041:Serpinb6d
|
UTSW |
13 |
33,851,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1112:Serpinb6d
|
UTSW |
13 |
33,853,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1159:Serpinb6d
|
UTSW |
13 |
33,855,212 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1447:Serpinb6d
|
UTSW |
13 |
33,854,739 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1608:Serpinb6d
|
UTSW |
13 |
33,853,112 (GRCm39) |
missense |
probably benign |
|
|
R1843:Serpinb6d
|
UTSW |
13 |
33,855,364 (GRCm39) |
missense |
probably benign |
|
|
R1945:Serpinb6d
|
UTSW |
13 |
33,851,663 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2168:Serpinb6d
|
UTSW |
13 |
33,850,357 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2275:Serpinb6d
|
UTSW |
13 |
33,855,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3737:Serpinb6d
|
UTSW |
13 |
33,851,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Serpinb6d
|
UTSW |
13 |
33,851,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Serpinb6d
|
UTSW |
13 |
33,851,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Serpinb6d
|
UTSW |
13 |
33,848,097 (GRCm39) |
missense |
probably benign |
|
|
R3782:Serpinb6d
|
UTSW |
13 |
33,848,097 (GRCm39) |
missense |
probably benign |
|
|
R4002:Serpinb6d
|
UTSW |
13 |
33,854,630 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4685:Serpinb6d
|
UTSW |
13 |
33,855,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Serpinb6d
|
UTSW |
13 |
33,855,336 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4761:Serpinb6d
|
UTSW |
13 |
33,855,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Serpinb6d
|
UTSW |
13 |
33,851,547 (GRCm39) |
splice site |
probably null |
|
|
R4884:Serpinb6d
|
UTSW |
13 |
33,850,428 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4951:Serpinb6d
|
UTSW |
13 |
33,850,366 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5010:Serpinb6d
|
UTSW |
13 |
33,855,427 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5081:Serpinb6d
|
UTSW |
13 |
33,855,230 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6726:Serpinb6d
|
UTSW |
13 |
33,854,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6960:Serpinb6d
|
UTSW |
13 |
33,855,181 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7214:Serpinb6d
|
UTSW |
13 |
33,848,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7732:Serpinb6d
|
UTSW |
13 |
33,853,082 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8128:Serpinb6d
|
UTSW |
13 |
33,850,383 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8197:Serpinb6d
|
UTSW |
13 |
33,851,588 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8471:Serpinb6d
|
UTSW |
13 |
33,848,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9026:Serpinb6d
|
UTSW |
13 |
33,851,656 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9080:Serpinb6d
|
UTSW |
13 |
33,855,107 (GRCm39) |
missense |
probably benign |
|
|
R9253:Serpinb6d
|
UTSW |
13 |
33,855,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Serpinb6d
|
UTSW |
13 |
33,854,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Serpinb6d
|
UTSW |
13 |
33,855,237 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2012-12-21 |
Incidental Mutation