Incidental Mutation 'R3683:Serpinb9b'
| ID |
269443 |
| 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 |
040681-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3683 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33211397-33224571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33213581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 46
(A46V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006392]
|
| AlphaFold |
Q9DAV6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006392
AA Change: A46V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: A46V
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
T |
C |
X: 80,463,841 (GRCm39) |
D622G |
possibly damaging |
Het |
| Acad11 |
T |
C |
9: 103,992,543 (GRCm39) |
I495T |
probably damaging |
Het |
| Acat1 |
C |
T |
9: 53,498,765 (GRCm39) |
A307T |
probably damaging |
Het |
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Bmp2 |
T |
A |
2: 133,396,392 (GRCm39) |
V16D |
probably benign |
Het |
| Cables2 |
G |
A |
2: 179,906,263 (GRCm39) |
R121* |
probably null |
Het |
| Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
| Csrnp2 |
A |
T |
15: 100,379,879 (GRCm39) |
S471T |
probably benign |
Het |
| Dnah7a |
C |
A |
1: 53,483,675 (GRCm39) |
M3367I |
probably benign |
Het |
| Elp4 |
A |
T |
2: 105,533,106 (GRCm39) |
M413K |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,470,975 (GRCm39) |
D1593G |
probably benign |
Het |
| Fbxw24 |
G |
A |
9: 109,437,110 (GRCm39) |
P259L |
possibly damaging |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,260 (GRCm39) |
N2S |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,075,328 (GRCm39) |
D1015G |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,930,880 (GRCm39) |
D779G |
probably damaging |
Het |
| Or2d3c |
G |
A |
7: 106,526,301 (GRCm39) |
R122* |
probably null |
Het |
| Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
| Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
| Osmr |
A |
C |
15: 6,866,534 (GRCm39) |
V380G |
possibly damaging |
Het |
| Phf21b |
A |
G |
15: 84,682,891 (GRCm39) |
I222T |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,544,489 (GRCm39) |
T347K |
probably benign |
Het |
| Sema6d |
G |
T |
2: 124,496,146 (GRCm39) |
L63F |
possibly damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,540,253 (GRCm39) |
|
probably null |
Het |
| Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
| Stat4 |
C |
T |
1: 52,052,981 (GRCm39) |
T54I |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
| Tbc1d20 |
C |
T |
2: 152,153,737 (GRCm39) |
T354I |
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,815,210 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,542,579 (GRCm39) |
M1802T |
probably benign |
Het |
| Vmn1r8 |
A |
C |
6: 57,013,260 (GRCm39) |
T104P |
probably damaging |
Het |
| Vmn2r13 |
C |
A |
5: 109,304,721 (GRCm39) |
R570I |
probably damaging |
Het |
| Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
probably damaging |
Het |
| Zfp1005 |
A |
G |
2: 150,109,976 (GRCm39) |
K222R |
probably benign |
Het |
| Zmpste24 |
A |
G |
4: 120,918,288 (GRCm39) |
F445L |
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 |
|
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'- CCTGCTTCCGACCAATGAAC -3'
(R):5'- TACTCAGGAAATCTCATTGCCC -3'
Sequencing Primer
(F):5'- AATGAACCTTCACCTCTGTGTTGAG -3'
(R):5'- TGCCCTTAAAGAAGTCTTACTGGAGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation