Incidental Mutation 'R6745:Serpina1b'
| ID |
530543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina1b
|
| Ensembl Gene |
ENSMUSG00000071178 |
| Gene Name |
serine (or cysteine) preptidase inhibitor, clade A, member 1B |
| Synonyms |
PI2, D12Ucla2, Spi1-2 |
| MMRRC Submission |
044862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R6745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103694415-103704448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103696614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 265
(N265S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095450]
[ENSMUST00000164454]
[ENSMUST00000186166]
[ENSMUST00000187220]
|
| AlphaFold |
P22599 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095450
AA Change: N265S
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: N265S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
53 |
410 |
7.62e-203 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164454
AA Change: N265S
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: N265S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
53 |
410 |
7.62e-203 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186166
AA Change: N265S
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: N265S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
53 |
410 |
7.62e-203 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187220
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
PHENOTYPE: Targeted disruption of this gene leads to significantly fewer than expected heterozygous and homozygous offspring from heterozygous matings. Homozygotes are healthy with no obvious changes in major organs while heterozygotes show a 30% decrease in serum anti-elastase and anti-chymotrypsin activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
G |
T |
10: 10,265,941 (GRCm39) |
T1040K |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,408,601 (GRCm39) |
V59A |
probably benign |
Het |
| Ankk1 |
G |
T |
9: 49,327,480 (GRCm39) |
H566Q |
probably benign |
Het |
| Avil |
A |
C |
10: 126,849,988 (GRCm39) |
D613A |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,582,132 (GRCm39) |
N613S |
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,607,429 (GRCm39) |
T326A |
probably benign |
Het |
| Clasp2 |
A |
T |
9: 113,704,338 (GRCm39) |
R558* |
probably null |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
A |
T |
6: 53,581,517 (GRCm39) |
M172L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,372,607 (GRCm39) |
V2291A |
possibly damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,513,604 (GRCm39) |
V181G |
probably damaging |
Het |
| Dclk1 |
T |
A |
3: 55,385,229 (GRCm39) |
S40T |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,885,876 (GRCm39) |
M3053I |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,428,383 (GRCm39) |
I268K |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,596,669 (GRCm39) |
D396H |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,596,670 (GRCm39) |
K395N |
probably damaging |
Het |
| Gpbp1 |
G |
A |
13: 111,589,919 (GRCm39) |
R59C |
probably benign |
Het |
| Ifi47 |
T |
G |
11: 48,986,329 (GRCm39) |
I32S |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,323,890 (GRCm39) |
V166A |
unknown |
Het |
| Katnip |
T |
C |
7: 125,369,822 (GRCm39) |
S137P |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 927,112 (GRCm39) |
C617S |
probably benign |
Homo |
| Kif20b |
T |
G |
19: 34,906,276 (GRCm39) |
S55A |
possibly damaging |
Het |
| Klhl1 |
C |
T |
14: 96,517,438 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
C |
T |
7: 139,500,892 (GRCm39) |
T727I |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,922,749 (GRCm39) |
I298N |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,138,523 (GRCm39) |
R1448L |
probably damaging |
Het |
| Mup4 |
C |
T |
4: 59,960,091 (GRCm39) |
V58M |
possibly damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,026,526 (GRCm39) |
F467S |
probably damaging |
Het |
| Or14j9 |
T |
A |
17: 37,874,470 (GRCm39) |
H244L |
probably damaging |
Het |
| Pla2g4a |
G |
T |
1: 149,761,981 (GRCm39) |
Q151K |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,167,868 (GRCm39) |
Q713L |
probably benign |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,080 (GRCm39) |
S210T |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,186,383 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,799 (GRCm39) |
D101G |
probably damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,308 (GRCm39) |
D359G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,698,063 (GRCm39) |
I531F |
probably benign |
Het |
| Slc51b |
T |
C |
9: 65,320,212 (GRCm39) |
E85G |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,702,809 (GRCm39) |
R195W |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,280,022 (GRCm39) |
T819A |
possibly damaging |
Het |
| Ugt1a9 |
A |
T |
1: 87,998,898 (GRCm39) |
E116V |
probably benign |
Het |
| Zswim5 |
C |
G |
4: 116,832,401 (GRCm39) |
P543A |
probably damaging |
Het |
|
| Other mutations in Serpina1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00544:Serpina1b
|
APN |
12 |
103,695,555 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL00990:Serpina1b
|
APN |
12 |
103,694,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Serpina1b
|
APN |
12 |
103,695,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03258:Serpina1b
|
APN |
12 |
103,696,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03392:Serpina1b
|
APN |
12 |
103,698,329 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1937:Serpina1b
|
UTSW |
12 |
103,698,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2383:Serpina1b
|
UTSW |
12 |
103,694,539 (GRCm39) |
missense |
probably benign |
|
|
R3789:Serpina1b
|
UTSW |
12 |
103,695,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Serpina1b
|
UTSW |
12 |
103,698,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5164:Serpina1b
|
UTSW |
12 |
103,698,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5650:Serpina1b
|
UTSW |
12 |
103,694,694 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6017:Serpina1b
|
UTSW |
12 |
103,695,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6241:Serpina1b
|
UTSW |
12 |
103,695,515 (GRCm39) |
splice site |
probably null |
|
|
R6522:Serpina1b
|
UTSW |
12 |
103,701,296 (GRCm39) |
splice site |
probably null |
|
|
R6884:Serpina1b
|
UTSW |
12 |
103,698,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7053:Serpina1b
|
UTSW |
12 |
103,698,688 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7208:Serpina1b
|
UTSW |
12 |
103,694,553 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7679:Serpina1b
|
UTSW |
12 |
103,696,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Serpina1b
|
UTSW |
12 |
103,694,566 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8056:Serpina1b
|
UTSW |
12 |
103,784,137 (GRCm39) |
intron |
probably benign |
|
|
R8237:Serpina1b
|
UTSW |
12 |
103,785,063 (GRCm39) |
splice site |
probably null |
|
|
R9092:Serpina1b
|
UTSW |
12 |
103,696,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9112:Serpina1b
|
UTSW |
12 |
103,698,699 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9123:Serpina1b
|
UTSW |
12 |
103,696,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Serpina1b
|
UTSW |
12 |
103,698,756 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9358:Serpina1b
|
UTSW |
12 |
103,694,653 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9409:Serpina1b
|
UTSW |
12 |
103,694,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTATAGTCCACCCTCTGCAAG -3'
(R):5'- CAATGGGCTGTGTCATCACC -3'
Sequencing Primer
(F):5'- GCAAGCACTTTCTGTCCTTTGGG -3'
(R):5'- GTGTCATCACCTCATTGGCTAAGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation