Incidental Mutation 'R3498:Serpinb6a'
| ID |
273679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb6a
|
| Ensembl Gene |
ENSMUSG00000060147 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6a |
| Synonyms |
D330015H01Rik, ovalbumin, 4930482L21Rik, Spi3 |
| MMRRC Submission |
040661-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
34101901-34186777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34102764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 253
(M253K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017188]
[ENSMUST00000043552]
[ENSMUST00000076532]
[ENSMUST00000167163]
[ENSMUST00000167260]
[ENSMUST00000168350]
[ENSMUST00000171034]
[ENSMUST00000171252]
|
| AlphaFold |
Q60854 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017188
AA Change: M253K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147
AA Change: M253K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
34 |
399 |
2.84e-179 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043552
AA Change: M232K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147
AA Change: M232K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
378 |
2.84e-179 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076532
AA Change: M232K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147
AA Change: M232K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
378 |
2.84e-179 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167163
AA Change: M232K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147
AA Change: M232K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
378 |
2.84e-179 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167260
|
| SMART Domains |
Protein: ENSMUSP00000127768
Gene: ENSMUSG00000060147
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
193 |
1.34e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168350
|
| SMART Domains |
Protein: ENSMUSP00000130356
Gene: ENSMUSG00000060147
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
162 |
9.24e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171034
|
| SMART Domains |
Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
228 |
3.54e-34 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171985
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171252
|
| SMART Domains |
Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
188 |
4.71e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.9736 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (43/43) |
| 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 (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile and developmentally normal, with no apparent alterations in growth, leukocyte function, or sensitivity to cerebral ischemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,350 (GRCm39) |
F6L |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,003,029 (GRCm39) |
I175V |
probably damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,965,068 (GRCm39) |
V45A |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,122,019 (GRCm39) |
E178G |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,820,306 (GRCm39) |
I101T |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Fosb |
C |
T |
7: 19,040,557 (GRCm39) |
R161H |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,376,582 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
T |
A |
4: 155,639,483 (GRCm39) |
N237K |
possibly damaging |
Het |
| Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
| Ighe |
G |
A |
12: 113,234,994 (GRCm39) |
Q389* |
probably null |
Het |
| Kcnj11 |
T |
C |
7: 45,749,026 (GRCm39) |
D23G |
probably damaging |
Het |
| Lats2 |
G |
T |
14: 57,959,923 (GRCm39) |
A191E |
possibly damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,864,280 (GRCm39) |
V502L |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,312,571 (GRCm39) |
M237V |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,510 (GRCm39) |
R68G |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,907,927 (GRCm39) |
V362E |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,774 (GRCm39) |
F204L |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,778 (GRCm39) |
I124N |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,010,079 (GRCm39) |
Y279H |
probably benign |
Het |
| Pcid2 |
A |
G |
8: 13,150,413 (GRCm39) |
V13A |
possibly damaging |
Het |
| Polr2j |
T |
C |
5: 136,151,624 (GRCm39) |
I116T |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,783,207 (GRCm39) |
|
probably benign |
Het |
| Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,685,750 (GRCm39) |
C101S |
probably damaging |
Het |
| Sec1 |
T |
C |
7: 45,328,663 (GRCm39) |
H128R |
probably damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,263,973 (GRCm39) |
I248N |
probably damaging |
Het |
| Slc22a4 |
T |
G |
11: 53,882,879 (GRCm39) |
K328N |
probably benign |
Het |
| Slc24a4 |
A |
T |
12: 102,200,951 (GRCm39) |
K278N |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,930,266 (GRCm39) |
W222R |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,567 (GRCm39) |
E466G |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,444,914 (GRCm39) |
T2133A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,364 (GRCm39) |
M172V |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,098,040 (GRCm39) |
H36Q |
probably benign |
Het |
| Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
| Vac14 |
A |
G |
8: 111,397,722 (GRCm39) |
D479G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,534,667 (GRCm39) |
K162I |
probably benign |
Het |
|
| Other mutations in Serpinb6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Serpinb6a
|
APN |
13 |
34,115,495 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01356:Serpinb6a
|
APN |
13 |
34,109,400 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01458:Serpinb6a
|
APN |
13 |
34,114,064 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01539:Serpinb6a
|
APN |
13 |
34,114,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02795:Serpinb6a
|
APN |
13 |
34,115,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Serpinb6a
|
APN |
13 |
34,102,782 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02971:Serpinb6a
|
APN |
13 |
34,115,453 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0829:Serpinb6a
|
UTSW |
13 |
34,119,684 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1324:Serpinb6a
|
UTSW |
13 |
34,102,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Serpinb6a
|
UTSW |
13 |
34,109,303 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4982:Serpinb6a
|
UTSW |
13 |
34,102,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5131:Serpinb6a
|
UTSW |
13 |
34,102,855 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5132:Serpinb6a
|
UTSW |
13 |
34,102,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6149:Serpinb6a
|
UTSW |
13 |
34,102,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6427:Serpinb6a
|
UTSW |
13 |
34,102,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6937:Serpinb6a
|
UTSW |
13 |
34,102,801 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7806:Serpinb6a
|
UTSW |
13 |
34,119,548 (GRCm39) |
splice site |
probably null |
|
|
R7830:Serpinb6a
|
UTSW |
13 |
34,114,030 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7948:Serpinb6a
|
UTSW |
13 |
34,107,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7949:Serpinb6a
|
UTSW |
13 |
34,107,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8531:Serpinb6a
|
UTSW |
13 |
34,115,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8773:Serpinb6a
|
UTSW |
13 |
34,115,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9117:Serpinb6a
|
UTSW |
13 |
34,109,412 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9182:Serpinb6a
|
UTSW |
13 |
34,109,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Serpinb6a
|
UTSW |
13 |
34,102,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Serpinb6a
|
UTSW |
13 |
34,109,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTAACCTATTATGATAGCTGGG -3'
(R):5'- TGCCCAATGTGTCACATGTG -3'
Sequencing Primer
(F):5'- AGTGTTTACTACGCATGCTCTAG -3'
(R):5'- CAATGTGTCACATGTGTCACC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation