Incidental Mutation 'R0043:Skint3'
| ID |
18558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint3
|
| Ensembl Gene |
ENSMUSG00000070868 |
| Gene Name |
selection and upkeep of intraepithelial T cells 3 |
| Synonyms |
A430090E18Rik |
| MMRRC Submission |
038337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R0043 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
112089442-112157665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112134820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 331
(V331E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038455]
[ENSMUST00000170945]
|
| AlphaFold |
A7TZF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038455
AA Change: V259E
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: V259E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
3.51e-8 |
SMART |
|
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
|
transmembrane domain
|
291 |
313 |
N/A |
INTRINSIC |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170945
AA Change: V331E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: V331E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
3.51e-8 |
SMART |
|
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
|
transmembrane domain
|
285 |
304 |
N/A |
INTRINSIC |
|
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
|
transmembrane domain
|
362 |
384 |
N/A |
INTRINSIC |
|
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 81.2%
- 3x: 72.1%
- 10x: 49.9%
- 20x: 30.2%
|
| Validation Efficiency |
90% (56/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
G |
2: 93,672,230 (GRCm39) |
Y213H |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,106,879 (GRCm39) |
L982P |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 46,460,917 (GRCm39) |
V651E |
probably benign |
Het |
| Cstf3 |
A |
T |
2: 104,475,430 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,996,362 (GRCm39) |
D2658G |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,586,029 (GRCm39) |
S240P |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,005,574 (GRCm39) |
M3765I |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,874 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,826,101 (GRCm39) |
S304T |
probably benign |
Het |
| Gata4 |
T |
C |
14: 63,440,750 (GRCm39) |
|
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,519 (GRCm39) |
L152P |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,556,678 (GRCm39) |
T694S |
possibly damaging |
Het |
| Kalrn |
C |
A |
16: 33,875,276 (GRCm39) |
G99W |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,495,196 (GRCm39) |
W448R |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,747,811 (GRCm39) |
Y351* |
probably null |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,302,310 (GRCm39) |
D908G |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,603,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,391,053 (GRCm39) |
Y102C |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,179,764 (GRCm39) |
V1281A |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,764 (GRCm39) |
S794R |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,722,883 (GRCm39) |
I766F |
possibly damaging |
Het |
| Spata6 |
A |
T |
4: 111,638,002 (GRCm39) |
R277S |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,958,610 (GRCm39) |
|
probably benign |
Het |
| Ube2u |
G |
T |
4: 100,340,026 (GRCm39) |
V66F |
possibly damaging |
Het |
| Usp42 |
A |
C |
5: 143,700,465 (GRCm39) |
V1186G |
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,077,815 (GRCm39) |
I419T |
probably damaging |
Het |
|
| Other mutations in Skint3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Skint3
|
APN |
4 |
112,113,106 (GRCm39) |
splice site |
probably benign |
|
|
IGL01344:Skint3
|
APN |
4 |
112,147,519 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02875:Skint3
|
APN |
4 |
112,113,079 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03308:Skint3
|
APN |
4 |
112,111,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:Skint3
|
APN |
4 |
112,113,103 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Skint3
|
UTSW |
4 |
112,112,974 (GRCm39) |
nonsense |
probably null |
|
|
R0747:Skint3
|
UTSW |
4 |
112,111,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1191:Skint3
|
UTSW |
4 |
112,092,939 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R2058:Skint3
|
UTSW |
4 |
112,112,980 (GRCm39) |
nonsense |
probably null |
|
|
R3819:Skint3
|
UTSW |
4 |
112,113,085 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3893:Skint3
|
UTSW |
4 |
112,111,115 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4166:Skint3
|
UTSW |
4 |
112,112,832 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4449:Skint3
|
UTSW |
4 |
112,127,206 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4662:Skint3
|
UTSW |
4 |
112,134,863 (GRCm39) |
nonsense |
probably null |
|
|
R4790:Skint3
|
UTSW |
4 |
112,113,095 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5374:Skint3
|
UTSW |
4 |
112,155,386 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5570:Skint3
|
UTSW |
4 |
112,092,995 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6024:Skint3
|
UTSW |
4 |
112,147,543 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6306:Skint3
|
UTSW |
4 |
112,113,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6552:Skint3
|
UTSW |
4 |
112,147,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6619:Skint3
|
UTSW |
4 |
112,111,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Skint3
|
UTSW |
4 |
112,116,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9029:Skint3
|
UTSW |
4 |
112,111,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9433:Skint3
|
UTSW |
4 |
112,137,432 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9701:Skint3
|
UTSW |
4 |
112,111,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9802:Skint3
|
UTSW |
4 |
112,111,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Skint3
|
UTSW |
4 |
112,111,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-03-25 |
Incidental Mutation