Incidental Mutation 'R8471:Serpinb6d'
| ID |
657038 |
| 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 |
067915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
33845388-33855564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33848137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 34
(I34F)
|
| 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: I34F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: I34F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
375 |
1.67e-144 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221681
AA Change: I34F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,223 (GRCm39) |
C200S |
probably damaging |
Het |
| Abca1 |
G |
A |
4: 53,044,187 (GRCm39) |
H1812Y |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,594,591 (GRCm39) |
D4141V |
probably benign |
Het |
| Arhgef38 |
A |
T |
3: 132,940,472 (GRCm39) |
V38E |
probably damaging |
Het |
| Arl15 |
T |
A |
13: 114,037,632 (GRCm39) |
|
probably benign |
Het |
| Cwh43 |
T |
A |
5: 73,591,644 (GRCm39) |
L493Q |
probably damaging |
Het |
| Dnah7b |
C |
T |
1: 46,138,650 (GRCm39) |
H231Y |
possibly damaging |
Het |
| Eif2d |
C |
A |
1: 131,092,155 (GRCm39) |
Q309K |
probably benign |
Het |
| Epop |
A |
G |
11: 97,520,073 (GRCm39) |
V12A |
possibly damaging |
Het |
| Fkbp5 |
C |
T |
17: 28,634,943 (GRCm39) |
V189I |
probably benign |
Het |
| Ikzf2 |
T |
C |
1: 69,578,499 (GRCm39) |
M343V |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,407,192 (GRCm39) |
L1469* |
probably null |
Het |
| Man2b2 |
A |
T |
5: 36,979,183 (GRCm39) |
W286R |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,358,153 (GRCm39) |
Q1028K |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,013,885 (GRCm39) |
D455V |
possibly damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,437,989 (GRCm39) |
R86G |
probably damaging |
Het |
| Or10d5b |
A |
G |
9: 39,885,901 (GRCm39) |
S73P |
unknown |
Het |
| Or1e32 |
A |
T |
11: 73,705,309 (GRCm39) |
F200I |
probably benign |
Het |
| Or5af1 |
A |
G |
11: 58,722,597 (GRCm39) |
M206V |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,415,308 (GRCm39) |
P606S |
probably benign |
Het |
| Plec |
A |
G |
15: 76,070,620 (GRCm39) |
V894A |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,021,901 (GRCm39) |
N333S |
probably benign |
Het |
| Ptger4 |
A |
T |
15: 5,271,800 (GRCm39) |
M273K |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,464,411 (GRCm39) |
D1372G |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,575,245 (GRCm39) |
K571R |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,548,456 (GRCm38) |
|
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,997,078 (GRCm39) |
V1198A |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,484,125 (GRCm39) |
V3879A |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,253,265 (GRCm39) |
I62S |
probably null |
Het |
| Snx9 |
T |
A |
17: 5,940,365 (GRCm39) |
W39R |
probably damaging |
Het |
| Tbcb |
A |
T |
7: 29,931,100 (GRCm39) |
S7T |
probably benign |
Het |
| Ttc21a |
C |
A |
9: 119,792,242 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
G |
A |
17: 87,601,454 (GRCm39) |
G63R |
probably benign |
Het |
| Zdhhc3 |
A |
T |
9: 122,929,440 (GRCm39) |
V65D |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,831,426 (GRCm39) |
Y193C |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,982,914 (GRCm39) |
I515N |
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 |
|
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 |
|
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'- CCCTTGTTCACTGGGGTATGATAG -3'
(R):5'- CTGGGGTTCAGCATGGAAATG -3'
Sequencing Primer
(F):5'- TATTGGTGGGAATGAAGAGCAAACC -3'
(R):5'- GCATGGAAATGCATCCTGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation