Incidental Mutation 'IGL00272:Skint2'
ID |
14030 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Skint2
|
Ensembl Gene |
ENSMUSG00000034359 |
Gene Name |
selection and upkeep of intraepithelial T cells 2 |
Synonyms |
OTTMUSG00000008540, B7S3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL00272
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
112470795-112509445 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112481409 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 91
(T91A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058791]
[ENSMUST00000106560]
[ENSMUST00000186969]
|
AlphaFold |
A7XUX6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058791
AA Change: T91A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000061011 Gene: ENSMUSG00000034359 AA Change: T91A
Domain | Start | End | E-Value | Type |
IGv
|
41 |
122 |
2.52e-9 |
SMART |
Pfam:C2-set_2
|
140 |
225 |
2.7e-10 |
PFAM |
Pfam:Ig_2
|
153 |
231 |
3.6e-3 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106559
|
SMART Domains |
Protein: ENSMUSP00000102169 Gene: ENSMUSG00000034359
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IGv
|
41 |
122 |
2.52e-9 |
SMART |
Pfam:C2-set_2
|
146 |
225 |
5.2e-8 |
PFAM |
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106560
AA Change: T91A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102170 Gene: ENSMUSG00000034359 AA Change: T91A
Domain | Start | End | E-Value | Type |
IGv
|
41 |
122 |
2.52e-9 |
SMART |
Pfam:C2-set_2
|
145 |
225 |
1.3e-10 |
PFAM |
Pfam:Ig_2
|
153 |
231 |
2e-3 |
PFAM |
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186969
AA Change: T91A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139831 Gene: ENSMUSG00000034359 AA Change: T91A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IGv
|
41 |
122 |
2.52e-9 |
SMART |
Pfam:C2-set_2
|
145 |
225 |
2e-10 |
PFAM |
Pfam:Ig_2
|
154 |
231 |
1.7e-3 |
PFAM |
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
transmembrane domain
|
322 |
344 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
A |
G |
8: 117,700,279 (GRCm39) |
V41A |
probably damaging |
Het |
Ankrd12 |
C |
T |
17: 66,293,169 (GRCm39) |
V755I |
probably benign |
Het |
Arrdc3 |
T |
C |
13: 81,038,691 (GRCm39) |
S218P |
probably damaging |
Het |
Bzw1 |
T |
C |
1: 58,442,101 (GRCm39) |
V292A |
possibly damaging |
Het |
Cers2 |
T |
C |
3: 95,229,211 (GRCm39) |
Y228H |
probably damaging |
Het |
Dnaaf6 |
A |
G |
X: 139,006,711 (GRCm39) |
I197V |
probably benign |
Het |
Egf |
C |
T |
3: 129,505,098 (GRCm39) |
M625I |
probably benign |
Het |
Fbxw8 |
A |
T |
5: 118,206,162 (GRCm39) |
H595Q |
probably benign |
Het |
Fshr |
T |
A |
17: 89,292,699 (GRCm39) |
I660F |
probably benign |
Het |
Gapdh |
C |
T |
6: 125,139,470 (GRCm39) |
V267M |
probably damaging |
Het |
Ginm1 |
T |
C |
10: 7,668,460 (GRCm39) |
|
probably benign |
Het |
Gja1 |
A |
G |
10: 56,264,418 (GRCm39) |
D259G |
probably benign |
Het |
Gm21814 |
T |
A |
6: 149,483,502 (GRCm39) |
|
noncoding transcript |
Het |
Gm26870 |
T |
C |
9: 3,002,340 (GRCm39) |
|
probably benign |
Het |
Habp2 |
G |
A |
19: 56,306,264 (GRCm39) |
C482Y |
probably damaging |
Het |
Knl1 |
A |
C |
2: 118,894,564 (GRCm39) |
N79T |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
Lats2 |
T |
C |
14: 57,929,026 (GRCm39) |
T950A |
probably benign |
Het |
Map2k2 |
T |
A |
10: 80,956,907 (GRCm39) |
M95K |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,949,757 (GRCm39) |
I160N |
probably damaging |
Het |
Or9m1b |
A |
G |
2: 87,836,988 (GRCm39) |
S45P |
probably damaging |
Het |
Or9m2 |
A |
T |
2: 87,820,782 (GRCm39) |
D109V |
probably damaging |
Het |
Pes1 |
T |
C |
11: 3,926,803 (GRCm39) |
S362P |
probably damaging |
Het |
Ppp6r2 |
G |
T |
15: 89,170,016 (GRCm39) |
A844S |
probably benign |
Het |
Rnf130 |
A |
G |
11: 49,984,623 (GRCm39) |
I308V |
probably damaging |
Het |
Scn11a |
T |
C |
9: 119,645,669 (GRCm39) |
N95S |
probably damaging |
Het |
Shoc1 |
A |
G |
4: 59,086,961 (GRCm39) |
F284L |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,797,494 (GRCm39) |
|
probably benign |
Het |
Snapc1 |
A |
G |
12: 74,015,148 (GRCm39) |
|
probably null |
Het |
Stard10 |
A |
T |
7: 100,971,173 (GRCm39) |
Y47F |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,870,095 (GRCm39) |
V233I |
probably damaging |
Het |
Tex14 |
G |
A |
11: 87,426,469 (GRCm39) |
S1165N |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,143,633 (GRCm39) |
I106V |
probably benign |
Het |
Vps54 |
T |
A |
11: 21,227,909 (GRCm39) |
Y275N |
possibly damaging |
Het |
Wdr87-ps |
G |
T |
7: 29,237,047 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Skint2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00801:Skint2
|
APN |
4 |
112,483,188 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01602:Skint2
|
APN |
4 |
112,483,191 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01605:Skint2
|
APN |
4 |
112,483,191 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02015:Skint2
|
APN |
4 |
112,481,325 (GRCm39) |
nonsense |
probably null |
|
IGL02694:Skint2
|
APN |
4 |
112,473,792 (GRCm39) |
splice site |
probably benign |
|
IGL03247:Skint2
|
APN |
4 |
112,483,223 (GRCm39) |
missense |
probably benign |
0.06 |
PIT4677001:Skint2
|
UTSW |
4 |
112,483,135 (GRCm39) |
missense |
probably benign |
0.10 |
R0054:Skint2
|
UTSW |
4 |
112,502,660 (GRCm39) |
missense |
probably benign |
0.15 |
R0054:Skint2
|
UTSW |
4 |
112,502,660 (GRCm39) |
missense |
probably benign |
0.15 |
R0190:Skint2
|
UTSW |
4 |
112,473,729 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0479:Skint2
|
UTSW |
4 |
112,481,238 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0625:Skint2
|
UTSW |
4 |
112,481,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R1143:Skint2
|
UTSW |
4 |
112,483,133 (GRCm39) |
missense |
probably benign |
0.00 |
R1564:Skint2
|
UTSW |
4 |
112,483,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Skint2
|
UTSW |
4 |
112,504,315 (GRCm39) |
intron |
probably benign |
|
R1864:Skint2
|
UTSW |
4 |
112,483,106 (GRCm39) |
missense |
probably benign |
0.10 |
R3079:Skint2
|
UTSW |
4 |
112,496,870 (GRCm39) |
missense |
probably benign |
0.01 |
R3891:Skint2
|
UTSW |
4 |
112,481,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Skint2
|
UTSW |
4 |
112,441,785 (GRCm39) |
intron |
probably benign |
|
R4799:Skint2
|
UTSW |
4 |
112,509,305 (GRCm39) |
missense |
probably benign |
0.07 |
R5458:Skint2
|
UTSW |
4 |
112,481,377 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5482:Skint2
|
UTSW |
4 |
112,483,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R5603:Skint2
|
UTSW |
4 |
112,506,961 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7068:Skint2
|
UTSW |
4 |
112,481,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R7233:Skint2
|
UTSW |
4 |
112,483,122 (GRCm39) |
missense |
probably damaging |
0.99 |
R7335:Skint2
|
UTSW |
4 |
112,481,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Skint2
|
UTSW |
4 |
112,483,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R7790:Skint2
|
UTSW |
4 |
112,473,751 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7878:Skint2
|
UTSW |
4 |
112,506,942 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7941:Skint2
|
UTSW |
4 |
112,483,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R7965:Skint2
|
UTSW |
4 |
112,502,648 (GRCm39) |
missense |
probably benign |
0.17 |
R7976:Skint2
|
UTSW |
4 |
112,481,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R8100:Skint2
|
UTSW |
4 |
112,483,197 (GRCm39) |
missense |
probably damaging |
0.99 |
R9014:Skint2
|
UTSW |
4 |
112,483,026 (GRCm39) |
missense |
probably benign |
0.00 |
R9114:Skint2
|
UTSW |
4 |
112,496,834 (GRCm39) |
missense |
probably benign |
0.00 |
R9228:Skint2
|
UTSW |
4 |
112,483,039 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9245:Skint2
|
UTSW |
4 |
112,502,616 (GRCm39) |
missense |
probably benign |
|
R9336:Skint2
|
UTSW |
4 |
112,483,054 (GRCm39) |
missense |
probably benign |
0.02 |
R9370:Skint2
|
UTSW |
4 |
112,481,259 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9606:Skint2
|
UTSW |
4 |
112,483,147 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2012-12-06 |