Incidental Mutation 'R5672:Serpinb9b'
| ID |
442688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb9b
|
| Ensembl Gene |
ENSMUSG00000021403 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9b |
| Synonyms |
R86, ovalbumin, Spi10, 1600019A21Rik, SPI-CI |
| MMRRC Submission |
043174-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5672 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33211397-33224571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33223582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 258
(D258G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006392]
|
| AlphaFold |
Q9DAV6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006392
AA Change: D258G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: D258G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
7.86e-164 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220566
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,383 (GRCm39) |
N181S |
possibly damaging |
Het |
| Abcf3 |
A |
T |
16: 20,368,002 (GRCm39) |
Q74L |
probably benign |
Het |
| Ankrd13c |
T |
C |
3: 157,666,664 (GRCm39) |
|
probably null |
Het |
| Bub1 |
A |
G |
2: 127,646,800 (GRCm39) |
F827L |
possibly damaging |
Het |
| Cfap68 |
T |
C |
9: 50,675,227 (GRCm39) |
T67A |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,023,990 (GRCm39) |
I355V |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,313,696 (GRCm39) |
S319P |
probably damaging |
Het |
| Efna5 |
A |
T |
17: 63,188,025 (GRCm39) |
V34D |
probably damaging |
Het |
| Fam131a |
G |
T |
16: 20,518,389 (GRCm39) |
E88D |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,817,838 (GRCm39) |
R4524* |
probably null |
Het |
| Gm6899 |
C |
T |
11: 26,543,484 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
C |
T |
16: 32,839,878 (GRCm39) |
R356Q |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,036,377 (GRCm39) |
I1105N |
possibly damaging |
Het |
| Klb |
T |
C |
5: 65,537,292 (GRCm39) |
I874T |
possibly damaging |
Het |
| Klc3 |
T |
C |
7: 19,130,256 (GRCm39) |
Y307C |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,231,771 (GRCm39) |
H378L |
probably benign |
Het |
| Mxd4 |
G |
A |
5: 34,335,044 (GRCm39) |
R114C |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,895,242 (GRCm39) |
R241* |
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,433,905 (GRCm39) |
H67Y |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,379 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5p5 |
A |
G |
7: 107,413,844 (GRCm39) |
T18A |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,625 (GRCm39) |
A128S |
probably benign |
Het |
| Plat |
T |
C |
8: 23,263,664 (GRCm39) |
Y188H |
probably benign |
Het |
| Pop1 |
A |
G |
15: 34,530,325 (GRCm39) |
K908E |
possibly damaging |
Het |
| Pten |
A |
G |
19: 32,735,866 (GRCm39) |
I8V |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,596,968 (GRCm39) |
A436V |
probably damaging |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,173,900 (GRCm39) |
C2023R |
possibly damaging |
Het |
| Serpina1d |
A |
C |
12: 103,730,101 (GRCm39) |
D360E |
possibly damaging |
Het |
| Smgc |
G |
A |
15: 91,726,108 (GRCm39) |
S18N |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,410,157 (GRCm39) |
|
probably null |
Het |
| Spem1 |
T |
G |
11: 69,712,263 (GRCm39) |
K134Q |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,752,522 (GRCm39) |
M321L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,602,697 (GRCm39) |
C163R |
possibly damaging |
Het |
| Ube2ql1 |
A |
T |
13: 69,887,446 (GRCm39) |
L5H |
unknown |
Het |
| Ubn2 |
T |
C |
6: 38,438,462 (GRCm39) |
I225T |
probably damaging |
Het |
| Vmn1r181 |
A |
C |
7: 23,683,741 (GRCm39) |
T69P |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,816,494 (GRCm39) |
F10L |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 19,980,779 (GRCm39) |
M236T |
probably damaging |
Het |
|
| Other mutations in Serpinb9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Serpinb9b
|
APN |
13 |
33,219,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00518:Serpinb9b
|
APN |
13 |
33,223,553 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01939:Serpinb9b
|
APN |
13 |
33,223,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02472:Serpinb9b
|
APN |
13 |
33,223,953 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02632:Serpinb9b
|
APN |
13 |
33,223,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0255:Serpinb9b
|
UTSW |
13 |
33,222,003 (GRCm39) |
missense |
probably benign |
|
|
R0667:Serpinb9b
|
UTSW |
13 |
33,216,909 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Serpinb9b
|
UTSW |
13 |
33,217,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0703:Serpinb9b
|
UTSW |
13 |
33,216,964 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1605:Serpinb9b
|
UTSW |
13 |
33,222,112 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1623:Serpinb9b
|
UTSW |
13 |
33,213,548 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1815:Serpinb9b
|
UTSW |
13 |
33,223,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Serpinb9b
|
UTSW |
13 |
33,223,531 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1987:Serpinb9b
|
UTSW |
13 |
33,213,542 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1988:Serpinb9b
|
UTSW |
13 |
33,213,542 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3035:Serpinb9b
|
UTSW |
13 |
33,213,529 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3683:Serpinb9b
|
UTSW |
13 |
33,213,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3758:Serpinb9b
|
UTSW |
13 |
33,219,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Serpinb9b
|
UTSW |
13 |
33,223,806 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5412:Serpinb9b
|
UTSW |
13 |
33,213,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5481:Serpinb9b
|
UTSW |
13 |
33,222,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5957:Serpinb9b
|
UTSW |
13 |
33,223,831 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6797:Serpinb9b
|
UTSW |
13 |
33,213,467 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7586:Serpinb9b
|
UTSW |
13 |
33,223,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Serpinb9b
|
UTSW |
13 |
33,219,531 (GRCm39) |
missense |
probably null |
0.94 |
|
R8309:Serpinb9b
|
UTSW |
13 |
33,223,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Serpinb9b
|
UTSW |
13 |
33,223,543 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8802:Serpinb9b
|
UTSW |
13 |
33,213,587 (GRCm39) |
missense |
probably benign |
|
|
R8810:Serpinb9b
|
UTSW |
13 |
33,213,452 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9020:Serpinb9b
|
UTSW |
13 |
33,223,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Serpinb9b
|
UTSW |
13 |
33,219,523 (GRCm39) |
missense |
probably benign |
|
|
R9424:Serpinb9b
|
UTSW |
13 |
33,213,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0019:Serpinb9b
|
UTSW |
13 |
33,219,514 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGCGAATACTCATTGCC -3'
(R):5'- ACAGAACCATGATGGGCCAC -3'
Sequencing Primer
(F):5'- CATTGCCCTTGTATGACAATGTAGG -3'
(R):5'- GAGGAATGATGCCCTCAGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation