Incidental Mutation 'R5555:Skint11'
ID |
435325 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint11
|
Ensembl Gene |
ENSMUSG00000057977 |
Gene Name |
selection and upkeep of intraepithelial T cells 11 |
Synonyms |
A630098G03Rik |
MMRRC Submission |
043112-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5555 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
114020581-114102225 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114051798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 49
(T49A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079915]
[ENSMUST00000145797]
[ENSMUST00000151810]
[ENSMUST00000164297]
|
AlphaFold |
A7XV14 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079915
|
SMART Domains |
Protein: ENSMUSP00000078836 Gene: ENSMUSG00000057977
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145797
AA Change: T49A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000118895 Gene: ENSMUSG00000057977 AA Change: T49A
Domain | Start | End | E-Value | Type |
Pfam:C2-set_2
|
29 |
113 |
6.4e-7 |
PFAM |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151810
AA Change: T23A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000119157 Gene: ENSMUSG00000057977 AA Change: T23A
Domain | Start | End | E-Value | Type |
Pfam:C2-set_2
|
3 |
87 |
6e-7 |
PFAM |
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
transmembrane domain
|
161 |
183 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164297
AA Change: T49A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000127138 Gene: ENSMUSG00000057977 AA Change: T49A
Domain | Start | End | E-Value | Type |
PDB:4F8T|A
|
19 |
125 |
6e-9 |
PDB |
Blast:IG_like
|
40 |
119 |
1e-10 |
BLAST |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg7 |
T |
C |
6: 114,679,014 (GRCm39) |
V366A |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,581,702 (GRCm39) |
V192E |
probably damaging |
Het |
Chil6 |
C |
T |
3: 106,297,268 (GRCm39) |
S291N |
possibly damaging |
Het |
D7Ertd443e |
T |
C |
7: 133,951,320 (GRCm39) |
T118A |
probably benign |
Het |
Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,012,776 (GRCm39) |
T1837S |
probably damaging |
Het |
Elapor2 |
T |
A |
5: 9,472,296 (GRCm39) |
|
probably null |
Het |
Ext1 |
A |
G |
15: 52,951,539 (GRCm39) |
V515A |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,890,109 (GRCm39) |
E272G |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,825,236 (GRCm39) |
H1475Q |
probably benign |
Het |
Grid1 |
T |
C |
14: 35,242,662 (GRCm39) |
S672P |
possibly damaging |
Het |
Gtpbp4 |
A |
G |
13: 9,029,463 (GRCm39) |
|
probably null |
Het |
Hsp90aa1 |
A |
T |
12: 110,659,168 (GRCm39) |
V543E |
probably damaging |
Het |
Irf5 |
T |
C |
6: 29,531,145 (GRCm39) |
S4P |
probably benign |
Het |
Kif2b |
G |
T |
11: 91,466,286 (GRCm39) |
Q666K |
probably benign |
Het |
Macc1 |
A |
T |
12: 119,414,110 (GRCm39) |
H762L |
probably benign |
Het |
Map1s |
C |
T |
8: 71,369,751 (GRCm39) |
T941M |
probably damaging |
Het |
Mrgprb1 |
T |
A |
7: 48,097,523 (GRCm39) |
I130F |
probably benign |
Het |
Nbeal1 |
T |
G |
1: 60,276,311 (GRCm39) |
V684G |
possibly damaging |
Het |
Ngly1 |
C |
T |
14: 16,270,508 (GRCm38) |
Q173* |
probably null |
Het |
Plcb3 |
A |
T |
19: 6,943,587 (GRCm39) |
M104K |
probably benign |
Het |
Plcg2 |
T |
A |
8: 118,339,734 (GRCm39) |
Y1048* |
probably null |
Het |
Ptprf |
T |
C |
4: 118,082,121 (GRCm39) |
Y1039C |
probably damaging |
Het |
Rab38 |
A |
G |
7: 88,079,695 (GRCm39) |
Y29C |
probably damaging |
Het |
Rcan2 |
T |
A |
17: 44,347,921 (GRCm39) |
V210E |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,304,008 (GRCm39) |
Q447L |
probably benign |
Het |
Scel |
G |
A |
14: 103,839,642 (GRCm39) |
R495K |
probably benign |
Het |
Scn11a |
G |
T |
9: 119,584,304 (GRCm39) |
P1437Q |
probably damaging |
Het |
Sim2 |
A |
G |
16: 93,910,315 (GRCm39) |
D239G |
probably damaging |
Het |
Skap2 |
A |
G |
6: 51,836,998 (GRCm39) |
Y356H |
probably damaging |
Het |
Snx33 |
G |
A |
9: 56,832,681 (GRCm39) |
H463Y |
probably benign |
Het |
Steap2 |
T |
C |
5: 5,727,544 (GRCm39) |
T264A |
possibly damaging |
Het |
Stk40 |
T |
A |
4: 126,028,852 (GRCm39) |
V238E |
probably damaging |
Het |
Sun2 |
T |
C |
15: 79,618,328 (GRCm39) |
D277G |
probably benign |
Het |
Ttll9 |
T |
C |
2: 152,832,020 (GRCm39) |
|
probably null |
Het |
Vmn1r54 |
G |
A |
6: 90,246,347 (GRCm39) |
C87Y |
probably benign |
Het |
|
Other mutations in Skint11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:Skint11
|
APN |
4 |
114,051,906 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00775:Skint11
|
APN |
4 |
114,051,889 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02186:Skint11
|
APN |
4 |
114,101,833 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02499:Skint11
|
APN |
4 |
114,051,801 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02622:Skint11
|
APN |
4 |
114,051,925 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03115:Skint11
|
APN |
4 |
114,101,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R0513:Skint11
|
UTSW |
4 |
114,051,762 (GRCm39) |
missense |
probably benign |
0.00 |
R0928:Skint11
|
UTSW |
4 |
114,101,798 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1486:Skint11
|
UTSW |
4 |
114,052,015 (GRCm39) |
critical splice donor site |
probably null |
|
R1508:Skint11
|
UTSW |
4 |
114,088,963 (GRCm39) |
critical splice donor site |
probably null |
|
R1667:Skint11
|
UTSW |
4 |
114,051,978 (GRCm39) |
missense |
probably damaging |
0.99 |
R1807:Skint11
|
UTSW |
4 |
114,051,893 (GRCm39) |
missense |
probably benign |
0.08 |
R2504:Skint11
|
UTSW |
4 |
114,086,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4165:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
R4166:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
R4231:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
R4233:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
R4234:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
R4236:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
R4756:Skint11
|
UTSW |
4 |
114,051,874 (GRCm39) |
missense |
probably benign |
0.30 |
R4947:Skint11
|
UTSW |
4 |
114,048,707 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5237:Skint11
|
UTSW |
4 |
114,102,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5538:Skint11
|
UTSW |
4 |
114,088,959 (GRCm39) |
missense |
probably damaging |
0.99 |
R6004:Skint11
|
UTSW |
4 |
114,088,925 (GRCm39) |
missense |
probably benign |
0.37 |
R6209:Skint11
|
UTSW |
4 |
114,101,907 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7121:Skint11
|
UTSW |
4 |
114,084,993 (GRCm39) |
missense |
probably benign |
0.05 |
R7208:Skint11
|
UTSW |
4 |
114,088,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R7348:Skint11
|
UTSW |
4 |
114,101,919 (GRCm39) |
missense |
probably benign |
0.15 |
R7763:Skint11
|
UTSW |
4 |
114,084,905 (GRCm39) |
missense |
probably benign |
0.00 |
R7842:Skint11
|
UTSW |
4 |
114,101,968 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7846:Skint11
|
UTSW |
4 |
114,102,076 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8054:Skint11
|
UTSW |
4 |
114,101,806 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8710:Skint11
|
UTSW |
4 |
114,051,951 (GRCm39) |
missense |
probably benign |
0.10 |
R8742:Skint11
|
UTSW |
4 |
114,051,922 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Skint11
|
UTSW |
4 |
114,088,878 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Skint11
|
UTSW |
4 |
114,051,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACAGCCTGTGTTTGACTTG -3'
(R):5'- GCTTACCTGATAGGATAATACTTCTCC -3'
Sequencing Primer
(F):5'- ATTGTGACTATCCATACTCCCAATG -3'
(R):5'- AGGATAATACTTCTCCTTTTCTCCTG -3'
|
Posted On |
2016-10-24 |