Incidental Mutation 'R9774:Serpinb13'
| ID |
733565 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R9774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
106908714-106928925 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106923579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 95
(F95I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027564]
[ENSMUST00000136766]
|
| AlphaFold |
Q8CDC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027564
AA Change: F95I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: F95I
| 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: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
A |
C |
7: 30,399,261 (GRCm39) |
Q18H |
possibly damaging |
Het |
| Adam23 |
C |
T |
1: 63,585,583 (GRCm39) |
T390I |
probably benign |
Het |
| Adh7 |
T |
A |
3: 137,929,847 (GRCm39) |
C174* |
probably null |
Het |
| Brip1 |
A |
G |
11: 86,077,838 (GRCm39) |
S197P |
possibly damaging |
Het |
| Ccdc146 |
G |
T |
5: 21,506,247 (GRCm39) |
D731E |
probably benign |
Het |
| Cfi |
T |
C |
3: 129,668,645 (GRCm39) |
V557A |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,484,665 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,299,093 (GRCm39) |
I424V |
unknown |
Het |
| Cubn |
C |
T |
2: 13,433,530 (GRCm39) |
V1127I |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,581,976 (GRCm39) |
T339A |
probably benign |
Het |
| Ezh2 |
T |
A |
6: 47,519,315 (GRCm39) |
I506L |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,991,057 (GRCm39) |
M1V |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,372,032 (GRCm39) |
V567E |
probably null |
Het |
| Hrh1 |
A |
T |
6: 114,457,241 (GRCm39) |
E174V |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,272,040 (GRCm39) |
S585G |
possibly damaging |
Het |
| Kcnq4 |
C |
A |
4: 120,573,076 (GRCm39) |
A242S |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,804,014 (GRCm39) |
N842S |
probably benign |
Het |
| Mbd1 |
A |
G |
18: 74,408,274 (GRCm39) |
Q309R |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,943,613 (GRCm39) |
I383T |
probably benign |
Het |
| Mrto4 |
T |
C |
4: 139,075,287 (GRCm39) |
D172G |
probably benign |
Het |
| Muc2 |
T |
G |
7: 141,285,811 (GRCm39) |
S19A |
probably benign |
Het |
| Ndufb2 |
T |
C |
6: 39,575,301 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 53,994,108 (GRCm39) |
T246S |
probably damaging |
Het |
| Or8u8 |
C |
T |
2: 86,012,015 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,675,920 (GRCm39) |
N942I |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,281,751 (GRCm39) |
V177A |
probably benign |
Het |
| Rab5b |
A |
G |
10: 128,522,658 (GRCm39) |
V41A |
probably benign |
Het |
| Rnf111 |
T |
C |
9: 70,334,303 (GRCm39) |
D980G |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,114,185 (GRCm39) |
T515A |
probably benign |
Het |
| Rsf1 |
GCGGC |
GCGGCGGCGTCGGC |
7: 97,229,138 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
C |
T |
15: 80,890,673 (GRCm39) |
R76C |
possibly damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,603,134 (GRCm39) |
V494A |
probably benign |
Het |
| Spag9 |
A |
G |
11: 94,005,062 (GRCm39) |
E1182G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,944,196 (GRCm39) |
S530P |
probably benign |
Het |
| Spatc1l |
A |
G |
10: 76,405,168 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
G |
2: 121,938,965 (GRCm39) |
S330P |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,445,010 (GRCm39) |
M306K |
probably damaging |
Het |
| Tcea2 |
C |
T |
2: 181,328,664 (GRCm39) |
T239I |
probably damaging |
Het |
| Tlcd2 |
A |
G |
11: 75,359,131 (GRCm39) |
D34G |
probably damaging |
Het |
| Tmem132a |
C |
T |
19: 10,842,904 (GRCm39) |
W190* |
probably null |
Het |
| Top3a |
C |
A |
11: 60,638,998 (GRCm39) |
V551L |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,898,041 (GRCm39) |
E1225K |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,645,660 (GRCm39) |
H350R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tyw3 |
T |
C |
3: 154,302,584 (GRCm39) |
D27G |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,153,875 (GRCm39) |
A1012V |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,369,126 (GRCm39) |
T149I |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,791,873 (GRCm39) |
S380T |
possibly damaging |
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 |
|
R6363:Serpinb13
|
UTSW |
1 |
106,928,504 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
Z1177:Serpinb13
|
UTSW |
1 |
106,910,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCAGAAAGTCAAATGGC -3'
(R):5'- AATAGTCCCATGGCAAGCAG -3'
Sequencing Primer
(F):5'- GGGACCAATGGACATCTCTATTC -3'
(R):5'- GGCCATTTCTTGGTACCA -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation