Incidental Mutation 'R0043:Spink12'
| ID |
64237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spink12
|
| Ensembl Gene |
ENSMUSG00000061144 |
| Gene Name |
serine peptidase inhibitor, Kazal type 12 |
| Synonyms |
9230117E20Rik |
| MMRRC Submission |
038337-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0043 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
44237474-44241610 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44240763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 50
(C50R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081271]
|
| AlphaFold |
Q9D256 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081271
AA Change: C50R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080025
Gene: ENSMUSG00000061144
AA Change: C50R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
KAZAL
|
49 |
105 |
4.52e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 6 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Elac1 |
T |
C |
18: 73,875,524 (GRCm39) |
D169G |
probably benign |
Het |
| Epas1 |
T |
C |
17: 87,131,240 (GRCm39) |
V340A |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,302,310 (GRCm39) |
D908G |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,006,504 (GRCm39) |
V863D |
probably damaging |
Het |
| Tubb4a |
T |
C |
17: 57,388,114 (GRCm39) |
D304G |
probably damaging |
Het |
| Usp42 |
A |
C |
5: 143,700,465 (GRCm39) |
V1186G |
probably benign |
Het |
|
| Other mutations in Spink12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00706:Spink12
|
APN |
18 |
44,240,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00731:Spink12
|
APN |
18 |
44,241,177 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01694:Spink12
|
APN |
18 |
44,240,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Spink12
|
APN |
18 |
44,239,575 (GRCm39) |
splice site |
probably benign |
|
|
IGL02702:Spink12
|
APN |
18 |
44,237,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0001:Spink12
|
UTSW |
18 |
44,240,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0002:Spink12
|
UTSW |
18 |
44,240,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0043:Spink12
|
UTSW |
18 |
44,240,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Spink12
|
UTSW |
18 |
44,237,755 (GRCm39) |
nonsense |
probably null |
|
|
R0639:Spink12
|
UTSW |
18 |
44,240,831 (GRCm39) |
nonsense |
probably null |
|
|
R1636:Spink12
|
UTSW |
18 |
44,240,795 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4073:Spink12
|
UTSW |
18 |
44,237,731 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5398:Spink12
|
UTSW |
18 |
44,240,794 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7620:Spink12
|
UTSW |
18 |
44,237,684 (GRCm39) |
start gained |
probably benign |
|
|
Z1192:Spink12
|
UTSW |
18 |
44,237,775 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGAGAGCCGTGTCACGTTTG -3'
(R):5'- TCATGGACACCTACTCCACTGGAC -3'
Sequencing Primer
(F):5'- TGCAGCAGAACATACTGCTATAAG -3'
(R):5'- GGACCCAACTAAGAACATCTTGC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation