Incidental Mutation 'R3780:Serpinb6d'
| ID |
272020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb6d
|
| Ensembl Gene |
ENSMUSG00000047889 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6d |
| Synonyms |
SPI3D, Gm11390 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R3780 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
33845388-33855564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33848097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 20
(D20E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059637]
[ENSMUST00000221681]
|
| AlphaFold |
Q3UWK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059637
AA Change: D20E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: D20E
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
375 |
1.67e-144 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221681
AA Change: D20E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
93% (40/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
T |
7: 29,260,263 (GRCm39) |
|
noncoding transcript |
Het |
| Adam21 |
C |
T |
12: 81,606,047 (GRCm39) |
V572I |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,063,315 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,321,152 (GRCm39) |
I281N |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,586,063 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
| Cntrob |
A |
G |
11: 69,193,708 (GRCm39) |
L814P |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,252,000 (GRCm39) |
N952S |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,517 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,431,760 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,788,638 (GRCm39) |
E111G |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,251 (GRCm39) |
D74G |
probably benign |
Het |
| Kif21b |
A |
T |
1: 136,083,964 (GRCm39) |
K737M |
probably damaging |
Het |
| Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,335,335 (GRCm39) |
N113K |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,054,944 (GRCm39) |
S409P |
probably benign |
Het |
| Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,201,415 (GRCm39) |
F95L |
probably benign |
Het |
| Ndufa4l2 |
A |
G |
10: 127,351,289 (GRCm39) |
I27V |
probably benign |
Het |
| Npepl1 |
T |
G |
2: 173,962,447 (GRCm39) |
L371R |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
| Ocrl |
G |
A |
X: 47,027,180 (GRCm39) |
V416I |
probably benign |
Het |
| Or2g1 |
T |
G |
17: 38,106,895 (GRCm39) |
C187G |
probably damaging |
Het |
| Padi2 |
C |
T |
4: 140,645,048 (GRCm39) |
T94I |
probably benign |
Het |
| Pcca |
G |
A |
14: 122,922,297 (GRCm39) |
E353K |
probably damaging |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,810 (GRCm39) |
N600K |
probably damaging |
Het |
| Pex5l |
A |
G |
3: 33,004,993 (GRCm39) |
L593P |
probably damaging |
Het |
| Rbp2 |
G |
A |
9: 98,380,879 (GRCm39) |
D62N |
probably benign |
Het |
| Rock1 |
G |
T |
18: 10,067,575 (GRCm39) |
N1319K |
probably benign |
Het |
| Ror1 |
A |
C |
4: 100,269,314 (GRCm39) |
D384A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sacm1l |
A |
T |
9: 123,381,855 (GRCm39) |
E152D |
probably benign |
Het |
| Seh1l |
T |
C |
18: 67,908,087 (GRCm39) |
V3A |
probably benign |
Het |
| Serpini1 |
T |
G |
3: 75,521,942 (GRCm39) |
N144K |
probably damaging |
Het |
| Slc22a23 |
G |
A |
13: 34,528,323 (GRCm39) |
T153I |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,908,280 (GRCm39) |
S88P |
probably benign |
Het |
| Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,146 (GRCm39) |
C106Y |
probably damaging |
Het |
| Washc3 |
C |
T |
10: 88,055,122 (GRCm39) |
T112M |
probably benign |
Het |
| Zfp280d |
C |
T |
9: 72,229,806 (GRCm39) |
T346M |
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 |
|
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'- CCCTTGTTCACTGGGGTATG -3'
(R):5'- ATGTTACAGCTGGGGTTCAG -3'
Sequencing Primer
(F):5'- TGATAGTATTGGTGGGAATGAAGAGC -3'
(R):5'- GCATGGAAATGCATCCTGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation