Incidental Mutation 'R3079:Skint2'
ID |
265322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint2
|
Ensembl Gene |
ENSMUSG00000034359 |
Gene Name |
selection and upkeep of intraepithelial T cells 2 |
Synonyms |
OTTMUSG00000008540, B7S3 |
MMRRC Submission |
040569-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R3079 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
112470795-112509445 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112496870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 259
(T259A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106560]
[ENSMUST00000186969]
|
AlphaFold |
A7XUX6 |
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: T259A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000102170 Gene: ENSMUSG00000034359 AA Change: T259A
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: T259A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139831 Gene: ENSMUSG00000034359 AA Change: T259A
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
T |
15: 102,248,879 (GRCm39) |
L168H |
probably damaging |
Het |
Abca15 |
T |
C |
7: 119,984,392 (GRCm39) |
W1158R |
probably damaging |
Het |
Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
Aqp11 |
A |
T |
7: 97,386,795 (GRCm39) |
C134S |
probably benign |
Het |
Arhgap35 |
A |
G |
7: 16,296,501 (GRCm39) |
Y855H |
probably damaging |
Het |
Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
Cit |
A |
G |
5: 116,063,545 (GRCm39) |
D462G |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,631,422 (GRCm39) |
R1494G |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,611,750 (GRCm39) |
S109P |
possibly damaging |
Het |
Elp4 |
T |
C |
2: 105,639,790 (GRCm39) |
K130E |
possibly damaging |
Het |
Gemin5 |
A |
T |
11: 58,036,345 (GRCm39) |
V666E |
probably damaging |
Het |
Hba-x |
A |
G |
11: 32,227,616 (GRCm39) |
D62G |
probably damaging |
Het |
Hnrnpul1 |
A |
T |
7: 25,432,540 (GRCm39) |
Y474* |
probably null |
Het |
Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
Mrc2 |
T |
C |
11: 105,227,539 (GRCm39) |
S591P |
probably damaging |
Het |
Msh5 |
T |
C |
17: 35,265,208 (GRCm39) |
E48G |
probably benign |
Het |
Mybpc2 |
T |
C |
7: 44,155,505 (GRCm39) |
D916G |
probably damaging |
Het |
Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
Nlrp1b |
T |
C |
11: 71,108,794 (GRCm39) |
R236G |
probably benign |
Het |
Obsl1 |
G |
T |
1: 75,467,467 (GRCm39) |
R1436S |
probably damaging |
Het |
Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
Or51a7 |
C |
T |
7: 102,622,254 (GRCm39) |
|
probably null |
Het |
Padi2 |
T |
C |
4: 140,677,189 (GRCm39) |
V659A |
probably damaging |
Het |
Pnpla6 |
T |
G |
8: 3,591,512 (GRCm39) |
S1169A |
probably benign |
Het |
Pramel30 |
T |
G |
4: 144,058,098 (GRCm39) |
L235R |
probably damaging |
Het |
Prl6a1 |
A |
G |
13: 27,502,983 (GRCm39) |
D193G |
possibly damaging |
Het |
Rce1 |
G |
T |
19: 4,674,750 (GRCm39) |
C138* |
probably null |
Het |
Shoc1 |
G |
T |
4: 59,047,848 (GRCm39) |
T1257N |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc66a1 |
G |
T |
4: 139,033,829 (GRCm39) |
A30D |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
Slfn1 |
T |
C |
11: 83,011,986 (GRCm39) |
V34A |
probably benign |
Het |
Syt4 |
A |
G |
18: 31,574,738 (GRCm39) |
V293A |
probably benign |
Het |
Trh |
T |
C |
6: 92,219,551 (GRCm39) |
E255G |
possibly damaging |
Het |
Ube4a |
G |
T |
9: 44,871,371 (GRCm39) |
N9K |
probably damaging |
Het |
Uck1 |
A |
T |
2: 32,148,089 (GRCm39) |
|
probably benign |
Het |
Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
Wbp2 |
C |
T |
11: 115,970,534 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
G |
1: 63,346,636 (GRCm39) |
I1672V |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGATATTCTAGGATGGTAGGC -3'
(R):5'- AAAGCTTCATCTGCAAAAGCAG -3'
Sequencing Primer
(F):5'- CTAGGTATGACCAAGCCA -3'
(R):5'- TCTGCAAAAGCAGAGGATGTAGGAC -3'
|
Posted On |
2015-02-05 |