Incidental Mutation 'R3737:Serpinb6d'
ID |
270190 |
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 |
040724-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R3737 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
33845388-33855564 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 33851663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 140
(V140E)
|
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: V140E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063025 Gene: ENSMUSG00000047889 AA Change: V140E
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
1.67e-144 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221681
AA Change: V140E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.9376 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
Arap1 |
A |
T |
7: 101,049,484 (GRCm39) |
Y982F |
possibly damaging |
Het |
Bicral |
A |
T |
17: 47,136,836 (GRCm39) |
Y125N |
probably damaging |
Het |
Brd2 |
A |
G |
17: 34,336,054 (GRCm39) |
L53S |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Cdk17 |
G |
A |
10: 93,057,506 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
A |
G |
3: 144,436,482 (GRCm39) |
V867A |
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,411,523 (GRCm39) |
D1531V |
possibly damaging |
Het |
Dnah9 |
G |
A |
11: 66,047,734 (GRCm39) |
Q29* |
probably null |
Het |
Dop1a |
T |
C |
9: 86,376,486 (GRCm39) |
V240A |
probably damaging |
Het |
Fgfbp1 |
T |
C |
5: 44,136,938 (GRCm39) |
Y118C |
probably damaging |
Het |
Gal3st2c |
A |
G |
1: 93,937,050 (GRCm39) |
I332V |
possibly damaging |
Het |
Gprc6a |
A |
C |
10: 51,503,007 (GRCm39) |
N285K |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,751,172 (GRCm39) |
D266G |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,226,624 (GRCm39) |
K200* |
probably null |
Het |
Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
Il36rn |
T |
C |
2: 24,171,215 (GRCm39) |
F101S |
probably damaging |
Het |
Isl2 |
A |
G |
9: 55,449,754 (GRCm39) |
S119G |
probably benign |
Het |
Kctd9 |
G |
A |
14: 67,971,737 (GRCm39) |
D157N |
possibly damaging |
Het |
Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,849,280 (GRCm39) |
L1340P |
probably damaging |
Het |
Myh9 |
G |
A |
15: 77,651,012 (GRCm39) |
R1612C |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,341,821 (GRCm39) |
N608S |
probably benign |
Het |
Nolc1 |
C |
CAGT |
19: 46,069,816 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
CAG |
CAGTAG |
19: 46,069,792 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
GCA |
GCAACA |
19: 46,069,809 (GRCm39) |
|
probably benign |
Het |
Or8b4 |
G |
A |
9: 37,829,937 (GRCm39) |
|
probably benign |
Het |
Osbpl2 |
G |
A |
2: 179,803,353 (GRCm39) |
R475H |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,714,080 (GRCm39) |
Y215* |
probably null |
Het |
Pde6c |
T |
A |
19: 38,128,672 (GRCm39) |
V212D |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,924,721 (GRCm39) |
T115A |
probably benign |
Het |
Prtg |
G |
T |
9: 72,749,991 (GRCm39) |
E132* |
probably null |
Het |
R3hcc1 |
C |
T |
14: 69,935,042 (GRCm39) |
R262Q |
probably benign |
Het |
Ska3 |
A |
T |
14: 58,049,053 (GRCm39) |
M306K |
probably benign |
Het |
Spesp1 |
T |
A |
9: 62,180,318 (GRCm39) |
I197L |
probably benign |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Tprg1l |
T |
C |
4: 154,244,585 (GRCm39) |
I137V |
probably benign |
Het |
Ttk |
C |
A |
9: 83,736,890 (GRCm39) |
P450T |
possibly damaging |
Het |
Ube2j1 |
A |
T |
4: 33,036,723 (GRCm39) |
M16L |
probably benign |
Het |
Ubr3 |
G |
A |
2: 69,801,578 (GRCm39) |
|
probably null |
Het |
Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
Usp49 |
G |
A |
17: 47,983,243 (GRCm39) |
V83M |
probably damaging |
Het |
Usp6nl |
C |
A |
2: 6,445,728 (GRCm39) |
N568K |
probably damaging |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Vmn1r55 |
T |
G |
7: 5,150,195 (GRCm39) |
D76A |
probably damaging |
Het |
Xrcc6 |
T |
C |
15: 81,913,832 (GRCm39) |
Y53H |
probably damaging |
Het |
Zbtb7c |
T |
G |
18: 76,270,011 (GRCm39) |
L33R |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCATAGGAAAGGAGCCTGTTG -3'
(R):5'- AAACCAACTCTTGTGTGTTGTC -3'
Sequencing Primer
(F):5'- AGGAGCCTGTTGGTGCTAAAC -3'
(R):5'- AACTCTTGTGTGTTGTCCTGAC -3'
|
Posted On |
2015-03-18 |