Incidental Mutation 'IGL02015:Skint2'
ID |
183699 |
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 # |
IGL02015
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
112470795-112509445 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 112481325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 63
(R63*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058791]
[ENSMUST00000106560]
[ENSMUST00000186969]
|
AlphaFold |
A7XUX6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000058791
AA Change: R63*
|
SMART Domains |
Protein: ENSMUSP00000061011 Gene: ENSMUSG00000034359 AA Change: R63*
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 null
Transcript: ENSMUST00000106560
AA Change: R63*
|
SMART Domains |
Protein: ENSMUSP00000102170 Gene: ENSMUSG00000034359 AA Change: R63*
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 null
Transcript: ENSMUST00000186969
AA Change: R63*
|
SMART Domains |
Protein: ENSMUSP00000139831 Gene: ENSMUSG00000034359 AA Change: R63*
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl9l |
C |
A |
9: 44,420,098 (GRCm39) |
|
probably null |
Het |
C1qtnf12 |
A |
G |
4: 156,047,201 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,060,749 (GRCm39) |
Y1382H |
probably damaging |
Het |
Fut1 |
A |
T |
7: 45,268,399 (GRCm39) |
M118L |
probably damaging |
Het |
Fzd5 |
A |
T |
1: 64,775,501 (GRCm39) |
C87S |
probably damaging |
Het |
Gmcl1 |
A |
G |
6: 86,684,439 (GRCm39) |
V361A |
possibly damaging |
Het |
Inpp4a |
T |
G |
1: 37,428,793 (GRCm39) |
F700V |
probably damaging |
Het |
Klk1b21 |
A |
T |
7: 43,753,782 (GRCm39) |
Q22L |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,357,922 (GRCm39) |
Q369L |
probably benign |
Het |
Mtor |
C |
T |
4: 148,624,570 (GRCm39) |
Q2117* |
probably null |
Het |
Naip2 |
A |
T |
13: 100,298,115 (GRCm39) |
S640R |
possibly damaging |
Het |
Nt5e |
T |
C |
9: 88,249,290 (GRCm39) |
I408T |
probably damaging |
Het |
Or10ab5 |
T |
A |
7: 108,245,220 (GRCm39) |
N188Y |
probably damaging |
Het |
Or51h5 |
G |
A |
7: 102,577,399 (GRCm39) |
R188H |
probably benign |
Het |
Or8d2 |
T |
C |
9: 38,760,090 (GRCm39) |
S227P |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,319,433 (GRCm39) |
L590P |
probably damaging |
Het |
Ppp1r35 |
T |
C |
5: 137,778,293 (GRCm39) |
|
probably benign |
Het |
Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
Ptprg |
A |
T |
14: 12,237,782 (GRCm38) |
N1413I |
possibly damaging |
Het |
Ranbp10 |
C |
A |
8: 106,506,622 (GRCm39) |
G233C |
probably damaging |
Het |
Rapgef2 |
A |
G |
3: 78,999,371 (GRCm39) |
|
probably benign |
Het |
Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
Scaf4 |
T |
C |
16: 90,055,734 (GRCm39) |
S108G |
unknown |
Het |
Scn10a |
C |
T |
9: 119,494,017 (GRCm39) |
V430M |
probably benign |
Het |
Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
Slc35b4 |
A |
T |
6: 34,147,483 (GRCm39) |
V35D |
probably damaging |
Het |
Slc6a3 |
A |
T |
13: 73,692,833 (GRCm39) |
Y151F |
possibly damaging |
Het |
Susd1 |
G |
A |
4: 59,315,745 (GRCm39) |
T689I |
possibly damaging |
Het |
Tbx21 |
T |
C |
11: 96,989,740 (GRCm39) |
D484G |
probably benign |
Het |
Tln2 |
C |
T |
9: 67,268,721 (GRCm39) |
|
probably benign |
Het |
Traf3 |
A |
G |
12: 111,219,174 (GRCm39) |
N242S |
probably benign |
Het |
Tut7 |
A |
G |
13: 59,937,072 (GRCm39) |
Y790H |
probably damaging |
Het |
Xiap |
T |
A |
X: 41,185,487 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
2014-05-07 |