Incidental Mutation 'IGL01602:Skint2'
| ID |
278756 |
| 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: 0.050)
|
| Stock # |
IGL01602
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
112470795-112509445 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112483191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 199
(T199A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058791]
[ENSMUST00000106560]
[ENSMUST00000186969]
|
| AlphaFold |
A7XUX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058791
AA Change: T199A
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359
AA Change: T199A
| 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 benign
Transcript: ENSMUST00000106560
AA Change: T199A
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: T199A
| 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 benign
Transcript: ENSMUST00000186969
AA Change: T199A
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: T199A
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
A |
T |
7: 66,538,159 (GRCm39) |
M242L |
probably benign |
Het |
| Brip1 |
T |
A |
11: 85,952,830 (GRCm39) |
T984S |
possibly damaging |
Het |
| Cdh17 |
T |
C |
4: 11,795,670 (GRCm39) |
Y417H |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,833,834 (GRCm39) |
I1196N |
probably damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,323,854 (GRCm39) |
F447S |
probably damaging |
Het |
| Dnah12 |
C |
T |
14: 26,431,430 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
C |
T |
19: 25,067,252 (GRCm39) |
|
probably benign |
Het |
| Eif1ad5 |
A |
T |
12: 87,940,530 (GRCm39) |
|
noncoding transcript |
Het |
| Fam163b |
A |
G |
2: 27,002,688 (GRCm39) |
F103S |
probably damaging |
Het |
| G0s2 |
A |
G |
1: 192,954,964 (GRCm39) |
L40P |
probably damaging |
Het |
| Gucy1b1 |
C |
T |
3: 81,942,660 (GRCm39) |
R494Q |
probably benign |
Het |
| Hsd17b1 |
T |
C |
11: 100,969,755 (GRCm39) |
V89A |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,837,348 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,148,192 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
| Mnx1 |
T |
C |
5: 29,682,591 (GRCm39) |
D228G |
unknown |
Het |
| Msantd2 |
A |
G |
9: 37,428,736 (GRCm39) |
E101G |
probably benign |
Het |
| Msh2 |
T |
C |
17: 88,003,917 (GRCm39) |
|
probably benign |
Het |
| Pabpc1 |
A |
G |
15: 36,599,550 (GRCm39) |
Y382H |
probably benign |
Het |
| Prl7b1 |
A |
G |
13: 27,786,027 (GRCm39) |
S214P |
possibly damaging |
Het |
| Rbpj-ps3 |
T |
C |
6: 46,507,025 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,433,531 (GRCm39) |
M162K |
possibly damaging |
Het |
| Slc24a1 |
T |
A |
9: 64,833,463 (GRCm39) |
D1044V |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,035,322 (GRCm39) |
D100G |
possibly damaging |
Het |
| Taar5 |
C |
T |
10: 23,846,962 (GRCm39) |
T120I |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,623,848 (GRCm39) |
V352A |
probably benign |
Het |
| Ubap2 |
T |
A |
4: 41,227,237 (GRCm39) |
D160V |
probably damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,510,106 (GRCm39) |
V89A |
possibly damaging |
Het |
| Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
possibly damaging |
Het |
|
| Other mutations in Skint2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Skint2
|
APN |
4 |
112,481,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00801:Skint2
|
APN |
4 |
112,483,188 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
2015-04-16 |
Incidental Mutation