Incidental Mutation 'R6632:Serpinb1b'
| ID |
525243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb1b
|
| Ensembl Gene |
ENSMUSG00000051029 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 1b |
| Synonyms |
EIB, ovalbumin, 6330533H24Rik |
| MMRRC Submission |
044754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6632 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
33262558-33278363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33271438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 70
(F70I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016951]
[ENSMUST00000222973]
|
| AlphaFold |
Q8VHP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016951
AA Change: F70I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000016951
Gene: ENSMUSG00000051029
AA Change: F70I
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
382 |
9e-182 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222973
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,429,186 (GRCm39) |
S758P |
possibly damaging |
Het |
| Abca3 |
C |
G |
17: 24,603,444 (GRCm39) |
D545E |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,063,842 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Arpp21 |
G |
A |
9: 111,956,424 (GRCm39) |
Q518* |
probably null |
Het |
| Atp9b |
G |
A |
18: 80,851,864 (GRCm39) |
R410W |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,627,222 (GRCm39) |
*265W |
probably null |
Het |
| Ccdc96 |
G |
A |
5: 36,642,533 (GRCm39) |
E180K |
probably benign |
Het |
| Cep164 |
T |
C |
9: 45,691,088 (GRCm39) |
K1231E |
possibly damaging |
Het |
| Cnot1 |
A |
G |
8: 96,499,895 (GRCm39) |
|
probably benign |
Het |
| Cpne2 |
T |
C |
8: 95,281,583 (GRCm39) |
V206A |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,411,085 (GRCm39) |
Y1647H |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,156,088 (GRCm39) |
T590A |
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,504,270 (GRCm39) |
I1068F |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,364,849 (GRCm39) |
K639N |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,105,871 (GRCm39) |
|
probably null |
Het |
| Gm35315 |
A |
C |
5: 110,227,129 (GRCm39) |
Y103* |
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,312,169 (GRCm39) |
K578R |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,335,734 (GRCm39) |
S906P |
probably benign |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,454 (GRCm39) |
W3650R |
probably benign |
Het |
| Mcoln3 |
C |
T |
3: 145,833,942 (GRCm39) |
H161Y |
probably benign |
Het |
| Mphosph10 |
A |
T |
7: 64,035,567 (GRCm39) |
M368K |
probably damaging |
Het |
| Msh2 |
A |
C |
17: 88,020,094 (GRCm39) |
K567Q |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,534,776 (GRCm39) |
E429G |
possibly damaging |
Het |
| Nrxn3 |
G |
A |
12: 89,159,924 (GRCm39) |
A17T |
probably damaging |
Het |
| Or2aj6 |
T |
C |
16: 19,443,773 (GRCm39) |
T26A |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,552 (GRCm39) |
Y157F |
probably benign |
Het |
| P4ha2 |
G |
T |
11: 54,008,474 (GRCm39) |
R227L |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,838,630 (GRCm39) |
|
probably null |
Het |
| Ror1 |
A |
G |
4: 100,299,303 (GRCm39) |
N892S |
probably benign |
Het |
| Scn9a |
G |
T |
2: 66,313,846 (GRCm39) |
D1957E |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,604,476 (GRCm39) |
Y713* |
probably null |
Het |
| Setdb1 |
T |
C |
3: 95,231,460 (GRCm39) |
Y1284C |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,655,809 (GRCm39) |
M1030K |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,165,667 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serpinb1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Serpinb1b
|
APN |
13 |
33,277,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01348:Serpinb1b
|
APN |
13 |
33,275,398 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01413:Serpinb1b
|
APN |
13 |
33,277,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01942:Serpinb1b
|
APN |
13 |
33,269,294 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02065:Serpinb1b
|
APN |
13 |
33,275,301 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02707:Serpinb1b
|
APN |
13 |
33,275,648 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03149:Serpinb1b
|
APN |
13 |
33,269,275 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0087:Serpinb1b
|
UTSW |
13 |
33,269,302 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0279:Serpinb1b
|
UTSW |
13 |
33,277,696 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0448:Serpinb1b
|
UTSW |
13 |
33,273,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1605:Serpinb1b
|
UTSW |
13 |
33,277,646 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1628:Serpinb1b
|
UTSW |
13 |
33,277,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1955:Serpinb1b
|
UTSW |
13 |
33,269,422 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6124:Serpinb1b
|
UTSW |
13 |
33,277,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7205:Serpinb1b
|
UTSW |
13 |
33,271,406 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7296:Serpinb1b
|
UTSW |
13 |
33,277,810 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7475:Serpinb1b
|
UTSW |
13 |
33,277,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7624:Serpinb1b
|
UTSW |
13 |
33,275,622 (GRCm39) |
splice site |
probably null |
|
|
R7958:Serpinb1b
|
UTSW |
13 |
33,273,636 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8058:Serpinb1b
|
UTSW |
13 |
33,269,293 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8325:Serpinb1b
|
UTSW |
13 |
33,277,584 (GRCm39) |
missense |
probably benign |
|
|
R8738:Serpinb1b
|
UTSW |
13 |
33,271,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Serpinb1b
|
UTSW |
13 |
33,277,743 (GRCm39) |
missense |
probably benign |
|
|
R9184:Serpinb1b
|
UTSW |
13 |
33,269,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATTGTTCTGCCAATGTCATG -3'
(R):5'- AAGTCCCACATGCATTTTGTG -3'
Sequencing Primer
(F):5'- TGTTCTGCCAATGTCATGTTAAC -3'
(R):5'- GTTTGAATGTCTTGCAACATGTCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation