Incidental Mutation 'R5957:Serpinb9b'
ID |
471240 |
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 |
043246-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5957 (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 C
at 33223831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 341
(L341P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006392
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006392]
|
AlphaFold |
Q9DAV6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006392
AA Change: L341P
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000006392 Gene: ENSMUSG00000021403 AA Change: L341P
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
7.86e-164 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220566
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,775,922 (GRCm39) |
T1704A |
probably benign |
Het |
Adgrg7 |
T |
A |
16: 56,593,790 (GRCm39) |
N142I |
probably damaging |
Het |
Aldh18a1 |
A |
T |
19: 40,558,981 (GRCm39) |
Y286* |
probably null |
Het |
Arpp21 |
T |
C |
9: 112,014,754 (GRCm39) |
T17A |
probably benign |
Het |
Bnip2 |
T |
C |
9: 69,906,520 (GRCm39) |
I147T |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,922,893 (GRCm39) |
Y3H |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Cul7 |
G |
A |
17: 46,968,683 (GRCm39) |
G553S |
probably damaging |
Het |
Cyp21a1 |
A |
G |
17: 35,022,150 (GRCm39) |
I206T |
probably benign |
Het |
Dennd4b |
A |
G |
3: 90,178,272 (GRCm39) |
D488G |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,107,575 (GRCm39) |
L1195P |
probably benign |
Het |
Dmac2l |
T |
C |
12: 69,790,558 (GRCm39) |
V185A |
probably benign |
Het |
Dock5 |
T |
A |
14: 68,095,443 (GRCm39) |
H77L |
probably benign |
Het |
Fbxw13 |
C |
T |
9: 109,021,734 (GRCm39) |
|
probably null |
Het |
Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
Gbf1 |
G |
T |
19: 46,234,660 (GRCm39) |
|
probably null |
Het |
Gm4846 |
T |
C |
1: 166,314,522 (GRCm39) |
I374V |
probably benign |
Het |
Gsk3b |
C |
A |
16: 38,014,315 (GRCm39) |
P258T |
probably damaging |
Het |
Igsf5 |
T |
C |
16: 96,165,249 (GRCm39) |
V8A |
probably benign |
Het |
Il22 |
T |
A |
10: 118,041,071 (GRCm39) |
L59Q |
probably damaging |
Het |
Ildr1 |
T |
C |
16: 36,545,896 (GRCm39) |
*517Q |
probably null |
Het |
Iqca1 |
T |
A |
1: 90,008,670 (GRCm39) |
D450V |
probably damaging |
Het |
Itga5 |
T |
C |
15: 103,259,856 (GRCm39) |
D647G |
probably benign |
Het |
Myh7 |
T |
G |
14: 55,226,535 (GRCm39) |
N408T |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,055,266 (GRCm39) |
M564V |
probably damaging |
Het |
Nsd2 |
T |
A |
5: 34,012,947 (GRCm39) |
M407K |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,285,706 (GRCm39) |
E219G |
probably benign |
Het |
Oprd1 |
C |
T |
4: 131,871,474 (GRCm39) |
V75I |
probably benign |
Het |
Poli |
G |
A |
18: 70,650,511 (GRCm39) |
H310Y |
probably benign |
Het |
Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
Ptch1 |
C |
T |
13: 63,672,929 (GRCm39) |
R755H |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,246,494 (GRCm39) |
M351K |
probably damaging |
Het |
Slc47a1 |
A |
G |
11: 61,235,168 (GRCm39) |
V555A |
probably benign |
Het |
Slc8a2 |
C |
A |
7: 15,879,209 (GRCm39) |
T565K |
possibly damaging |
Het |
Snx14 |
T |
C |
9: 88,285,327 (GRCm39) |
I446V |
possibly damaging |
Het |
Syde1 |
T |
C |
10: 78,425,951 (GRCm39) |
Y72C |
probably damaging |
Het |
Trim37 |
C |
T |
11: 87,036,377 (GRCm39) |
R138C |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,464,710 (GRCm39) |
S530R |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,862,253 (GRCm39) |
S2957P |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,133,695 (GRCm39) |
|
probably null |
Het |
Zyg11b |
T |
C |
4: 108,102,210 (GRCm39) |
K504E |
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 |
R5672:Serpinb9b
|
UTSW |
13 |
33,223,582 (GRCm39) |
missense |
probably benign |
0.01 |
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'- GTGGTCCACTGAGGTTAAGG -3'
(R):5'- ATTCTCACGGAGCTGTAGGAG -3'
Sequencing Primer
(F):5'- AGATGAAATCTGTGCTTCAGTGC -3'
(R):5'- CACGGAGCTGTAGGAGTGGTG -3'
|
Posted On |
2017-03-31 |