Incidental Mutation 'R3949:Serpinb10'
| ID |
307807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb10
|
| Ensembl Gene |
ENSMUSG00000092572 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10 |
| Synonyms |
|
| MMRRC Submission |
040929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3949 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107456757-107477001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107468636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 170
(L170H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182198]
[ENSMUST00000194951]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172762
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173703
AA Change: L93H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134188
Gene: ENSMUSG00000092572
AA Change: L93H
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182198
AA Change: L93H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572
AA Change: L93H
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191955
AA Change: L93H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141402
Gene: ENSMUSG00000102843
AA Change: L93H
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194951
AA Change: L170H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141672
Gene: ENSMUSG00000092572
AA Change: L170H
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
396 |
1.31e-183 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
T |
13: 8,620,455 (GRCm39) |
M314L |
probably damaging |
Het |
| Apcs |
A |
G |
1: 172,722,259 (GRCm39) |
F29S |
probably damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
G |
10: 93,386,081 (GRCm39) |
M66V |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,258,467 (GRCm39) |
K269E |
probably benign |
Het |
| Chrdl2 |
A |
C |
7: 99,678,412 (GRCm39) |
E328A |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,087,713 (GRCm39) |
N421S |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 124,233,473 (GRCm39) |
Q207K |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Fan1 |
C |
A |
7: 64,021,292 (GRCm39) |
E591* |
probably null |
Het |
| Fpr1 |
C |
A |
17: 18,097,191 (GRCm39) |
C266F |
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,478,146 (GRCm39) |
R151H |
possibly damaging |
Het |
| Gipr |
T |
C |
7: 18,891,354 (GRCm39) |
N441S |
probably benign |
Het |
| Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,758,239 (GRCm39) |
I708T |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Kctd8 |
C |
T |
5: 69,498,617 (GRCm39) |
G10S |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,332,648 (GRCm39) |
K257Q |
probably damaging |
Het |
| Lcp1 |
A |
G |
14: 75,443,569 (GRCm39) |
N195S |
possibly damaging |
Het |
| Or4k48 |
A |
T |
2: 111,475,871 (GRCm39) |
I157K |
possibly damaging |
Het |
| Or5b121 |
T |
C |
19: 13,507,384 (GRCm39) |
S160P |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,840,905 (GRCm39) |
D113G |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,476,141 (GRCm39) |
S426P |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
A |
G |
11: 70,444,180 (GRCm39) |
D492G |
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrf1 |
A |
C |
9: 89,863,797 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sfxn4 |
A |
G |
19: 60,840,501 (GRCm39) |
Y165H |
probably damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
T |
1: 13,059,833 (GRCm39) |
V296D |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,204,290 (GRCm39) |
|
probably null |
Het |
| Tbx2 |
C |
T |
11: 85,729,101 (GRCm39) |
Q495* |
probably null |
Het |
| Trav6-1 |
G |
A |
14: 52,875,993 (GRCm39) |
V8M |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,534,428 (GRCm39) |
N46K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,348 (GRCm39) |
F432I |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,185,165 (GRCm39) |
|
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,985,453 (GRCm39) |
V272A |
probably benign |
Het |
|
| Other mutations in Serpinb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Serpinb10
|
APN |
1 |
107,463,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00901:Serpinb10
|
APN |
1 |
107,468,726 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01287:Serpinb10
|
APN |
1 |
107,468,612 (GRCm39) |
critical splice acceptor site |
probably benign |
0.00 |
|
IGL02496:Serpinb10
|
APN |
1 |
107,466,155 (GRCm39) |
splice site |
probably null |
|
|
IGL03063:Serpinb10
|
APN |
1 |
107,469,957 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
PIT4445001:Serpinb10
|
UTSW |
1 |
107,463,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0106:Serpinb10
|
UTSW |
1 |
107,474,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0581:Serpinb10
|
UTSW |
1 |
107,474,692 (GRCm39) |
nonsense |
probably null |
|
|
R1538:Serpinb10
|
UTSW |
1 |
107,468,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1729:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1730:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1739:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1762:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1783:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1785:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3836:Serpinb10
|
UTSW |
1 |
107,463,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3972:Serpinb10
|
UTSW |
1 |
107,463,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4237:Serpinb10
|
UTSW |
1 |
107,466,179 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4585:Serpinb10
|
UTSW |
1 |
107,474,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4883:Serpinb10
|
UTSW |
1 |
107,468,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Serpinb10
|
UTSW |
1 |
107,468,701 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5085:Serpinb10
|
UTSW |
1 |
107,469,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Serpinb10
|
UTSW |
1 |
107,463,187 (GRCm39) |
splice site |
probably null |
|
|
R6665:Serpinb10
|
UTSW |
1 |
107,474,597 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6783:Serpinb10
|
UTSW |
1 |
107,474,597 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7311:Serpinb10
|
UTSW |
1 |
107,474,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Serpinb10
|
UTSW |
1 |
107,468,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7379:Serpinb10
|
UTSW |
1 |
107,460,117 (GRCm39) |
intron |
probably benign |
|
|
R7455:Serpinb10
|
UTSW |
1 |
107,463,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Serpinb10
|
UTSW |
1 |
107,456,831 (GRCm39) |
splice site |
probably null |
|
|
R7782:Serpinb10
|
UTSW |
1 |
107,463,196 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R8300:Serpinb10
|
UTSW |
1 |
107,474,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8695:Serpinb10
|
UTSW |
1 |
107,468,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8745:Serpinb10
|
UTSW |
1 |
107,474,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9069:Serpinb10
|
UTSW |
1 |
107,474,549 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9373:Serpinb10
|
UTSW |
1 |
107,474,749 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9423:Serpinb10
|
UTSW |
1 |
107,466,179 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9645:Serpinb10
|
UTSW |
1 |
107,474,488 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAATTCTCCATAGCTATTGAGA -3'
(R):5'- TTTTGCAAGGTCATGTGAAAATTC -3'
Sequencing Primer
(F):5'- AAGTGGACTTCCCGGATTCAGTC -3'
(R):5'- GGTCATGTGAAAATTCAAAGTGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation