Incidental Mutation 'R5627:Serpinb9d'
| ID |
441898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb9d
|
| Ensembl Gene |
ENSMUSG00000054266 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9d |
| Synonyms |
Spi9, AT2, ovalbumin |
| MMRRC Submission |
043166-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5627 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33376942-33387112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33386676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 248
(T248I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067198]
|
| AlphaFold |
Q8BMT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067198
AA Change: T248I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: T248I
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
1.79e-167 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Abl1 |
T |
C |
2: 31,690,595 (GRCm39) |
W705R |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,474,296 (GRCm39) |
V569D |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,587,298 (GRCm39) |
N425S |
possibly damaging |
Het |
| Atad2b |
A |
G |
12: 4,967,911 (GRCm39) |
D68G |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,511,604 (GRCm39) |
I173T |
probably damaging |
Het |
| Cenpe |
G |
T |
3: 134,941,234 (GRCm39) |
L716F |
possibly damaging |
Het |
| Cep85 |
A |
T |
4: 133,861,408 (GRCm39) |
L622Q |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,745,330 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
| Chil5 |
A |
G |
3: 105,926,951 (GRCm39) |
L228P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,853,767 (GRCm39) |
E265G |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,370,720 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,049,664 (GRCm39) |
D497E |
probably benign |
Het |
| Egfem1 |
G |
T |
3: 29,722,548 (GRCm39) |
E175* |
probably null |
Het |
| Eif4g2 |
A |
G |
7: 110,673,446 (GRCm39) |
Y778H |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,098,414 (GRCm39) |
C295R |
probably damaging |
Het |
| Gm3149 |
A |
T |
14: 15,702,790 (GRCm39) |
I246L |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,821,942 (GRCm39) |
T259A |
possibly damaging |
Het |
| Gm5150 |
A |
G |
3: 16,017,564 (GRCm39) |
Y236H |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,196,059 (GRCm39) |
Y864* |
probably null |
Het |
| Inpp4a |
A |
G |
1: 37,406,854 (GRCm39) |
D199G |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,470,445 (GRCm39) |
|
probably benign |
Het |
| Kremen1 |
T |
C |
11: 5,149,709 (GRCm39) |
T321A |
probably benign |
Het |
| Map3k3 |
A |
G |
11: 106,039,428 (GRCm39) |
S250G |
probably benign |
Het |
| Mtmr10 |
A |
T |
7: 63,986,500 (GRCm39) |
K526M |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,899,766 (GRCm39) |
C1461Y |
probably damaging |
Het |
| Nckap5l |
A |
T |
15: 99,325,587 (GRCm39) |
N305K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,051,557 (GRCm39) |
Y567F |
probably damaging |
Het |
| Or11g26 |
A |
G |
14: 50,753,257 (GRCm39) |
M199V |
probably benign |
Het |
| Or14c39 |
G |
T |
7: 86,344,347 (GRCm39) |
V228F |
possibly damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,388 (GRCm39) |
N89K |
probably benign |
Het |
| Or56b2 |
G |
A |
7: 104,337,377 (GRCm39) |
V52M |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,663 (GRCm39) |
I93F |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,477,991 (GRCm39) |
I225F |
probably damaging |
Het |
| Rcc1 |
T |
C |
4: 132,065,454 (GRCm39) |
R57G |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,440,066 (GRCm39) |
|
probably benign |
Het |
| Saraf |
T |
A |
8: 34,621,799 (GRCm39) |
M1K |
probably null |
Het |
| Slc38a6 |
A |
G |
12: 73,390,457 (GRCm39) |
I254M |
possibly damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,561,522 (GRCm39) |
D18G |
possibly damaging |
Het |
| Supt20 |
A |
G |
3: 54,620,611 (GRCm39) |
D389G |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,907,916 (GRCm39) |
I1001K |
probably damaging |
Het |
| Vcan |
CAAAA |
CAA |
13: 89,839,254 (GRCm39) |
|
probably null |
Het |
| Wdr36 |
T |
A |
18: 32,994,691 (GRCm39) |
D717E |
possibly damaging |
Het |
| Zfp318 |
T |
C |
17: 46,724,062 (GRCm39) |
S2022P |
probably damaging |
Het |
|
| Other mutations in Serpinb9d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01516:Serpinb9d
|
APN |
13 |
33,386,654 (GRCm39) |
splice site |
probably null |
|
|
IGL01610:Serpinb9d
|
APN |
13 |
33,381,985 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01702:Serpinb9d
|
APN |
13 |
33,387,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01833:Serpinb9d
|
APN |
13 |
33,384,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02029:Serpinb9d
|
APN |
13 |
33,380,512 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03013:Serpinb9d
|
APN |
13 |
33,380,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Serpinb9d
|
APN |
13 |
33,386,698 (GRCm39) |
nonsense |
probably null |
|
|
IGL03056:Serpinb9d
|
APN |
13 |
33,386,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03189:Serpinb9d
|
APN |
13 |
33,386,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03206:Serpinb9d
|
APN |
13 |
33,382,014 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0217:Serpinb9d
|
UTSW |
13 |
33,382,005 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0370:Serpinb9d
|
UTSW |
13 |
33,379,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Serpinb9d
|
UTSW |
13 |
33,384,608 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1175:Serpinb9d
|
UTSW |
13 |
33,384,608 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1711:Serpinb9d
|
UTSW |
13 |
33,384,731 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1716:Serpinb9d
|
UTSW |
13 |
33,380,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Serpinb9d
|
UTSW |
13 |
33,381,946 (GRCm39) |
splice site |
probably null |
|
|
R2186:Serpinb9d
|
UTSW |
13 |
33,387,030 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2497:Serpinb9d
|
UTSW |
13 |
33,380,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4198:Serpinb9d
|
UTSW |
13 |
33,386,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4198:Serpinb9d
|
UTSW |
13 |
33,386,657 (GRCm39) |
splice site |
probably null |
|
|
R4199:Serpinb9d
|
UTSW |
13 |
33,386,657 (GRCm39) |
splice site |
probably null |
|
|
R4584:Serpinb9d
|
UTSW |
13 |
33,384,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Serpinb9d
|
UTSW |
13 |
33,386,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5573:Serpinb9d
|
UTSW |
13 |
33,380,423 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6336:Serpinb9d
|
UTSW |
13 |
33,378,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6706:Serpinb9d
|
UTSW |
13 |
33,380,541 (GRCm39) |
missense |
probably benign |
|
|
R6948:Serpinb9d
|
UTSW |
13 |
33,384,706 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7271:Serpinb9d
|
UTSW |
13 |
33,378,617 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7336:Serpinb9d
|
UTSW |
13 |
33,384,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7436:Serpinb9d
|
UTSW |
13 |
33,379,916 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7675:Serpinb9d
|
UTSW |
13 |
33,386,759 (GRCm39) |
nonsense |
probably null |
|
|
R7874:Serpinb9d
|
UTSW |
13 |
33,386,654 (GRCm39) |
splice site |
probably null |
|
|
R9188:Serpinb9d
|
UTSW |
13 |
33,386,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9775:Serpinb9d
|
UTSW |
13 |
33,382,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACAGCCAGATAGCCCTGC -3'
(R):5'- TTGGACAGACACAGGTTTTCC -3'
Sequencing Primer
(F):5'- AGATAGCCCTGCCCTGTACTG -3'
(R):5'- TCCTTAGTAGACATTCCTGATAAGTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation