Incidental Mutation 'R0002:Spink12'
| ID |
157143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spink12
|
| Ensembl Gene |
ENSMUSG00000061144 |
| Gene Name |
serine peptidase inhibitor, Kazal type 12 |
| Synonyms |
9230117E20Rik |
| MMRRC Submission |
038298-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0002 (G1)
|
| Quality Score |
34 |
|
Status
|
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: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2 |
T |
C |
1: 106,640,241 (GRCm39) |
R124G |
possibly damaging |
Het |
| Catsper1 |
A |
G |
19: 5,391,551 (GRCm39) |
|
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,830,114 (GRCm39) |
Q295* |
probably null |
Het |
| Cdhr5 |
G |
T |
7: 140,849,933 (GRCm39) |
|
probably null |
Het |
| Dhx36 |
A |
C |
3: 62,388,260 (GRCm39) |
L625W |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,944,801 (GRCm39) |
D121E |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,340,885 (GRCm39) |
V849A |
probably benign |
Het |
| Nuak1 |
A |
T |
10: 84,211,231 (GRCm39) |
W286R |
probably damaging |
Het |
| Pate14 |
A |
T |
9: 36,548,655 (GRCm39) |
D59E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,783,947 (GRCm39) |
D312G |
probably damaging |
Het |
| Sbk3 |
T |
C |
7: 4,973,630 (GRCm39) |
D17G |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,019,981 (GRCm39) |
I530F |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,803 (GRCm39) |
I59V |
possibly damaging |
Het |
| Tapbp |
C |
T |
17: 34,144,606 (GRCm39) |
A234V |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,701,770 (GRCm39) |
Y624H |
probably damaging |
Het |
| Zfp560 |
T |
C |
9: 20,258,813 (GRCm39) |
Y683C |
probably damaging |
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 |
|
R0043: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 |
2014-02-14 |
Incidental Mutation