Incidental Mutation 'R6363:Serpinb13'
| ID |
512562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb13
|
| Ensembl Gene |
ENSMUSG00000048775 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13 |
| Synonyms |
HUR7, HURPIN, PI13, headpin |
| MMRRC Submission |
044513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6363 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
106908714-106928925 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 106928504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 375
(R375*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027564]
[ENSMUST00000136766]
|
| AlphaFold |
Q8CDC0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027564
AA Change: R375*
|
| SMART Domains |
Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: R375*
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
389 |
1.55e-144 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136766
|
| SMART Domains |
Protein: ENSMUSP00000118572
Gene: ENSMUSG00000048775
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
6 |
94 |
1.1e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
A |
G |
4: 111,423,982 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
G |
T |
14: 33,791,244 (GRCm39) |
C379F |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,651,971 (GRCm39) |
C256R |
probably damaging |
Het |
| Ccdc33 |
T |
C |
9: 58,021,618 (GRCm39) |
E254G |
probably benign |
Het |
| Ccndbp1 |
C |
T |
2: 120,843,454 (GRCm39) |
P282L |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,818,207 (GRCm39) |
T144I |
unknown |
Het |
| Csmd2 |
A |
T |
4: 128,294,172 (GRCm39) |
H1167L |
probably benign |
Het |
| Ctsk |
A |
T |
3: 95,408,862 (GRCm39) |
T82S |
probably damaging |
Het |
| Cyp3a41b |
A |
T |
5: 145,507,197 (GRCm39) |
F248I |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,407,679 (GRCm39) |
I2051T |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,001,331 (GRCm39) |
F871L |
probably benign |
Het |
| Eif2b4 |
A |
G |
5: 31,348,583 (GRCm39) |
V210A |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 77,965,143 (GRCm39) |
I385T |
probably damaging |
Het |
| Ercc8 |
T |
C |
13: 108,320,404 (GRCm39) |
L330P |
probably damaging |
Het |
| Etfa |
A |
G |
9: 55,407,417 (GRCm39) |
V24A |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,292,475 (GRCm39) |
I156F |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,765,565 (GRCm39) |
Y1465C |
probably damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,625 (GRCm39) |
L146P |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,313 (GRCm39) |
I154T |
possibly damaging |
Het |
| Hid1 |
T |
A |
11: 115,243,422 (GRCm39) |
Y542F |
probably damaging |
Het |
| Hspa8 |
T |
C |
9: 40,714,361 (GRCm39) |
V219A |
probably damaging |
Het |
| Klhl24 |
C |
T |
16: 19,938,933 (GRCm39) |
T496I |
possibly damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,156,413 (GRCm39) |
S64P |
probably damaging |
Het |
| Msh3 |
C |
A |
13: 92,349,032 (GRCm39) |
D1066Y |
probably damaging |
Het |
| Naaladl2 |
C |
T |
3: 24,389,481 (GRCm39) |
G323R |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,532,577 (GRCm39) |
T1762A |
probably benign |
Het |
| Nr4a1 |
C |
T |
15: 101,171,996 (GRCm39) |
R557C |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,194 (GRCm39) |
H344L |
probably benign |
Het |
| Or13a25 |
T |
A |
7: 140,247,995 (GRCm39) |
F265Y |
possibly damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,530 (GRCm39) |
H182L |
possibly damaging |
Het |
| Or5p55 |
A |
G |
7: 107,566,957 (GRCm39) |
M118V |
possibly damaging |
Het |
| Or9k7 |
A |
C |
10: 130,046,906 (GRCm39) |
V31G |
possibly damaging |
Het |
| Orm2 |
G |
A |
4: 63,280,841 (GRCm39) |
|
probably null |
Het |
| Patj |
T |
A |
4: 98,320,097 (GRCm39) |
S455T |
probably benign |
Het |
| Pdgfra |
G |
T |
5: 75,331,497 (GRCm39) |
V336L |
possibly damaging |
Het |
| Prkaa1 |
T |
C |
15: 5,206,437 (GRCm39) |
L431S |
probably damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,952,894 (GRCm39) |
V780A |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,525,081 (GRCm39) |
V184E |
probably benign |
Het |
| Rev1 |
T |
A |
1: 38,110,570 (GRCm39) |
H560L |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,867,970 (GRCm39) |
D67E |
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,678,885 (GRCm39) |
N307K |
probably benign |
Het |
| Srgap2 |
G |
A |
1: 131,226,206 (GRCm39) |
R36W |
probably damaging |
Het |
| Tas2r119 |
G |
T |
15: 32,178,034 (GRCm39) |
W200L |
possibly damaging |
Het |
| Tep1 |
T |
G |
14: 51,062,005 (GRCm39) |
K2575T |
probably benign |
Het |
| Ttc36 |
T |
A |
9: 44,710,936 (GRCm39) |
R131S |
probably damaging |
Het |
| Ttyh3 |
A |
T |
5: 140,620,979 (GRCm39) |
L195Q |
probably damaging |
Het |
| Uba7 |
G |
A |
9: 107,857,382 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
C |
10: 88,592,942 (GRCm39) |
V2249G |
probably damaging |
Het |
| Wwc2 |
A |
T |
8: 48,340,197 (GRCm39) |
|
probably null |
Het |
| Zdhhc21 |
A |
T |
4: 82,765,911 (GRCm39) |
V8D |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,239,290 (GRCm39) |
T293A |
probably benign |
Het |
|
| Other mutations in Serpinb13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00558:Serpinb13
|
APN |
1 |
106,924,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01758:Serpinb13
|
APN |
1 |
106,928,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02078:Serpinb13
|
APN |
1 |
106,926,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02183:Serpinb13
|
APN |
1 |
106,926,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4651001:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Serpinb13
|
UTSW |
1 |
106,926,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1263:Serpinb13
|
UTSW |
1 |
106,928,466 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1535:Serpinb13
|
UTSW |
1 |
106,909,886 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1929:Serpinb13
|
UTSW |
1 |
106,926,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2271:Serpinb13
|
UTSW |
1 |
106,926,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2655:Serpinb13
|
UTSW |
1 |
106,928,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3115:Serpinb13
|
UTSW |
1 |
106,910,568 (GRCm39) |
missense |
probably null |
0.15 |
|
R3418:Serpinb13
|
UTSW |
1 |
106,926,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3419:Serpinb13
|
UTSW |
1 |
106,926,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3883:Serpinb13
|
UTSW |
1 |
106,926,302 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4664:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4689:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Serpinb13
|
UTSW |
1 |
106,926,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Serpinb13
|
UTSW |
1 |
106,909,915 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5507:Serpinb13
|
UTSW |
1 |
106,926,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6015:Serpinb13
|
UTSW |
1 |
106,928,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6720:Serpinb13
|
UTSW |
1 |
106,921,792 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6847:Serpinb13
|
UTSW |
1 |
106,926,663 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7237:Serpinb13
|
UTSW |
1 |
106,926,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8907:Serpinb13
|
UTSW |
1 |
106,928,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:Serpinb13
|
UTSW |
1 |
106,928,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9011:Serpinb13
|
UTSW |
1 |
106,923,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9350:Serpinb13
|
UTSW |
1 |
106,923,562 (GRCm39) |
nonsense |
probably null |
|
|
R9375:Serpinb13
|
UTSW |
1 |
106,909,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Serpinb13
|
UTSW |
1 |
106,923,579 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Serpinb13
|
UTSW |
1 |
106,910,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCGGACTACTCAGGAATG -3'
(R):5'- CTCCTGAGTAGTGCACACATG -3'
Sequencing Primer
(F):5'- ACTACTCAGGAATGTCGGCG -3'
(R):5'- TCCTGAGTAGTGCACACATGATTGAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation