Incidental Mutation 'R8128:Serpinb6d'
| ID |
631861 |
| 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 |
067557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R8128 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
33845388-33855564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33850383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 70
(I70T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059637]
[ENSMUST00000221681]
|
| AlphaFold |
Q3UWK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059637
AA Change: I70T
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: I70T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
375 |
1.67e-144 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221681
AA Change: I70T
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (42/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,008,395 (GRCm39) |
R1188G |
probably damaging |
Het |
| Abcc5 |
G |
A |
16: 20,184,473 (GRCm39) |
R1036C |
probably damaging |
Het |
| Arhgap22 |
T |
A |
14: 33,089,042 (GRCm39) |
F508I |
probably benign |
Het |
| Bahcc1 |
C |
T |
11: 120,163,216 (GRCm39) |
Q505* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,916,253 (GRCm39) |
L1723Q |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,784,940 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
C |
A |
5: 5,646,034 (GRCm39) |
M555I |
probably benign |
Het |
| Cgn |
C |
T |
3: 94,676,691 (GRCm39) |
A773T |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,963,129 (GRCm39) |
V15A |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,784,789 (GRCm39) |
R206G |
unknown |
Het |
| Dscam |
C |
A |
16: 96,602,374 (GRCm39) |
|
probably null |
Het |
| Eif3k |
A |
T |
7: 28,679,742 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
G |
T |
11: 61,413,321 (GRCm39) |
|
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,568 (GRCm39) |
D215G |
probably benign |
Het |
| Foxa3 |
A |
T |
7: 18,757,341 (GRCm39) |
M1K |
probably null |
Het |
| Glyctk |
T |
C |
9: 106,032,501 (GRCm39) |
H504R |
probably benign |
Het |
| Grin3b |
T |
C |
10: 79,812,944 (GRCm39) |
L394P |
|
Het |
| Hgh1 |
A |
G |
15: 76,254,581 (GRCm39) |
Y319C |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,117,622 (GRCm39) |
T635A |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,346,947 (GRCm39) |
N627K |
probably damaging |
Het |
| Lmtk3 |
G |
T |
7: 45,443,598 (GRCm39) |
M760I |
|
Het |
| Lrp1b |
G |
A |
2: 41,159,248 (GRCm39) |
A1678V |
probably null |
Het |
| Lrrc8c |
A |
T |
5: 105,755,488 (GRCm39) |
N421I |
probably damaging |
Het |
| Mfsd13b |
C |
A |
7: 120,590,495 (GRCm39) |
R79S |
possibly damaging |
Het |
| Or1q1 |
A |
T |
2: 36,887,673 (GRCm39) |
M284L |
probably benign |
Het |
| Or5p50 |
A |
C |
7: 107,422,632 (GRCm39) |
F15V |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,234 (GRCm39) |
T426A |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,449 (GRCm39) |
I500F |
possibly damaging |
Het |
| Polr3gl |
T |
A |
3: 96,487,824 (GRCm39) |
|
probably null |
Het |
| Psmg3 |
A |
G |
5: 139,809,788 (GRCm39) |
V86A |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,977,099 (GRCm39) |
V102E |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,032 (GRCm39) |
|
probably null |
Het |
| Scand1 |
T |
C |
2: 156,153,961 (GRCm39) |
D103G |
probably damaging |
Het |
| Slco3a1 |
A |
T |
7: 73,934,049 (GRCm39) |
S708T |
probably damaging |
Het |
| Sprr2d |
G |
A |
3: 92,247,760 (GRCm39) |
C67Y |
unknown |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Trafd1 |
G |
T |
5: 121,510,465 (GRCm39) |
P567Q |
possibly damaging |
Het |
| Trim32 |
A |
G |
4: 65,531,682 (GRCm39) |
N80D |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,113 (GRCm39) |
L293S |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,747 (GRCm39) |
M272K |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,954,155 (GRCm39) |
L773Q |
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 |
|
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'- TTTCAGACCAGTGCTGACAGG -3'
(R):5'- GCCTATACAATGGCTAGAAGATAAC -3'
Sequencing Primer
(F):5'- ACCAGTGCTGACAGGGCATG -3'
(R):5'- CACGAAGAGCCTGTTTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation