Incidental Mutation 'R3035:Serpinb9b'
| ID |
264825 |
| 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 |
040551-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3035 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33211397-33224571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33213529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 29
(C29S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006392]
|
| AlphaFold |
Q9DAV6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006392
AA Change: C29S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: C29S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
7.86e-164 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221946
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,575,762 (GRCm39) |
V687D |
probably benign |
Het |
| Ahctf1 |
T |
A |
1: 179,581,435 (GRCm39) |
Q1589L |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,389,540 (GRCm39) |
S479P |
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,866,762 (GRCm39) |
K203E |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,520,559 (GRCm39) |
S433P |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,844,249 (GRCm39) |
S1181P |
possibly damaging |
Het |
| Gsc2 |
A |
G |
16: 17,732,792 (GRCm39) |
S26P |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,730,963 (GRCm39) |
S57P |
unknown |
Het |
| Herc1 |
C |
A |
9: 66,391,217 (GRCm39) |
Q4007K |
possibly damaging |
Het |
| Ighv1-54 |
C |
A |
12: 115,157,597 (GRCm39) |
V17F |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,218,942 (GRCm39) |
E312V |
possibly damaging |
Het |
| Kdf1 |
A |
G |
4: 133,255,373 (GRCm39) |
N30S |
probably benign |
Het |
| Kif11 |
T |
A |
19: 37,395,501 (GRCm39) |
S587T |
possibly damaging |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,640,464 (GRCm39) |
I511V |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Slc12a5 |
C |
A |
2: 164,822,178 (GRCm39) |
L343I |
probably benign |
Het |
| Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R5672:Serpinb9b
|
UTSW |
13 |
33,223,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GTAGAGTCCCAAGTTTCCCTG -3'
(R):5'- TTGCCCTTAAAGAAGTCTTACTGG -3'
Sequencing Primer
(F):5'- GCTTCCGACCAATGAACCTTC -3'
(R):5'- CCCTTAAAGAAGTCTTACTGGAGGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation