Incidental Mutation 'R1411:Serpinb9c'
| ID |
200821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb9c
|
| Ensembl Gene |
ENSMUSG00000021404 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9c |
| Synonyms |
3830421J05Rik, Spi11, NK9, ovalbumin |
| MMRRC Submission |
039467-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
33333258-33343725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 33335817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 212
(V212L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021837]
[ENSMUST00000110284]
[ENSMUST00000135897]
|
| AlphaFold |
I7HJI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021837
AA Change: V240L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000021837
Gene: ENSMUSG00000021404
AA Change: V240L
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
24 |
387 |
2.85e-152 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110284
AA Change: V212L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000105913
Gene: ENSMUSG00000021404
AA Change: V212L
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
359 |
1.21e-146 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135897
|
| SMART Domains |
Protein: ENSMUSP00000116267
Gene: ENSMUSG00000021404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
1 |
88 |
7.2e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,374 (GRCm39) |
I85F |
probably damaging |
Het |
| Acp4 |
A |
G |
7: 43,906,267 (GRCm39) |
|
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,259,177 (GRCm39) |
F1080L |
possibly damaging |
Het |
| Cbx5 |
A |
T |
15: 103,121,547 (GRCm39) |
M30K |
probably benign |
Het |
| Cdc73 |
A |
G |
1: 143,485,252 (GRCm39) |
|
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,019,177 (GRCm39) |
L34Q |
probably damaging |
Het |
| Chd8 |
C |
T |
14: 52,462,103 (GRCm39) |
V738I |
probably benign |
Het |
| Cpeb2 |
T |
G |
5: 43,391,113 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,035 (GRCm39) |
D265V |
probably damaging |
Het |
| Cyp2j11 |
A |
G |
4: 96,233,453 (GRCm39) |
I81T |
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,530,262 (GRCm39) |
E235G |
probably damaging |
Het |
| Dgkq |
C |
A |
5: 108,798,228 (GRCm39) |
V677F |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,217,441 (GRCm39) |
N928S |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,517,126 (GRCm39) |
V1054M |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,974,798 (GRCm39) |
D614G |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,071,858 (GRCm39) |
F247L |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,968,632 (GRCm39) |
N228S |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,146,791 (GRCm39) |
L251Q |
probably damaging |
Het |
| Gvin-ps3 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Gzma |
C |
T |
13: 113,232,742 (GRCm39) |
V117I |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,301,663 (GRCm39) |
T3798K |
probably benign |
Het |
| Il1rapl1 |
T |
A |
X: 85,790,904 (GRCm39) |
S679C |
possibly damaging |
Het |
| Lrrc8c |
G |
A |
5: 105,756,045 (GRCm39) |
A607T |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,136 (GRCm39) |
M319K |
probably damaging |
Het |
| Mroh2b |
A |
C |
15: 4,947,799 (GRCm39) |
H538P |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,233,807 (GRCm39) |
T1733A |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,098,435 (GRCm39) |
T8I |
possibly damaging |
Het |
| Padi4 |
C |
T |
4: 140,479,914 (GRCm39) |
S413N |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,894 (GRCm39) |
*1015W |
probably null |
Het |
| Pkhd1 |
G |
A |
1: 20,444,120 (GRCm39) |
P2314L |
probably damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,366,622 (GRCm39) |
F18L |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,570,251 (GRCm39) |
N751K |
probably damaging |
Het |
| Tfip11 |
G |
T |
5: 112,480,899 (GRCm39) |
V292L |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,751,702 (GRCm39) |
K1201R |
unknown |
Het |
| Vmn1r199 |
T |
C |
13: 22,567,671 (GRCm39) |
F322L |
probably benign |
Het |
| Vmn1r201 |
T |
C |
13: 22,658,849 (GRCm39) |
V21A |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,107 (GRCm39) |
I699K |
probably damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,679,527 (GRCm39) |
N566D |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,127,231 (GRCm39) |
D141E |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,634 (GRCm39) |
S364P |
probably benign |
Het |
|
| Other mutations in Serpinb9c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Serpinb9c
|
APN |
13 |
33,335,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01357:Serpinb9c
|
APN |
13 |
33,335,862 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01413:Serpinb9c
|
APN |
13 |
33,335,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1926:Serpinb9c
|
UTSW |
13 |
33,334,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2057:Serpinb9c
|
UTSW |
13 |
33,340,854 (GRCm39) |
nonsense |
probably null |
|
|
R2058:Serpinb9c
|
UTSW |
13 |
33,340,854 (GRCm39) |
nonsense |
probably null |
|
|
R2059:Serpinb9c
|
UTSW |
13 |
33,340,854 (GRCm39) |
nonsense |
probably null |
|
|
R2272:Serpinb9c
|
UTSW |
13 |
33,338,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3948:Serpinb9c
|
UTSW |
13 |
33,334,077 (GRCm39) |
missense |
probably benign |
|
|
R4520:Serpinb9c
|
UTSW |
13 |
33,335,840 (GRCm39) |
splice site |
probably null |
|
|
R4558:Serpinb9c
|
UTSW |
13 |
33,338,482 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4735:Serpinb9c
|
UTSW |
13 |
33,334,254 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5004:Serpinb9c
|
UTSW |
13 |
33,334,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5009:Serpinb9c
|
UTSW |
13 |
33,338,414 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6345:Serpinb9c
|
UTSW |
13 |
33,333,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6801:Serpinb9c
|
UTSW |
13 |
33,341,807 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R6886:Serpinb9c
|
UTSW |
13 |
33,334,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7082:Serpinb9c
|
UTSW |
13 |
33,338,390 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7288:Serpinb9c
|
UTSW |
13 |
33,335,883 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7988:Serpinb9c
|
UTSW |
13 |
33,334,262 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8309:Serpinb9c
|
UTSW |
13 |
33,334,094 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8465:Serpinb9c
|
UTSW |
13 |
33,334,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Serpinb9c
|
UTSW |
13 |
33,340,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Serpinb9c
|
UTSW |
13 |
33,335,793 (GRCm39) |
missense |
probably null |
0.93 |
|
R9002:Serpinb9c
|
UTSW |
13 |
33,334,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9412:Serpinb9c
|
UTSW |
13 |
33,334,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATCCATCTCCAATTTGCATGATGA -3'
(R):5'- TCACTGTGAGTGCTGTAAACAATTCCA -3'
Sequencing Primer
(F):5'- CACAGCTTTGATTCCAGTGAGAG -3'
(R):5'- GGCAGTTGATCTGGAAATCTTGAAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation