Incidental Mutation 'R4233:Skint11'
ID |
320951 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint11
|
Ensembl Gene |
ENSMUSG00000057977 |
Gene Name |
selection and upkeep of intraepithelial T cells 11 |
Synonyms |
A630098G03Rik |
MMRRC Submission |
041642-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4233 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
114020581-114102225 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 114101856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 99
(Q99K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079915]
[ENSMUST00000164297]
|
AlphaFold |
A7XV14 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079915
AA Change: Q99K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000078836 Gene: ENSMUSG00000057977 AA Change: Q99K
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: ENSMUST00000164297
AA Change: Q290K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127138 Gene: ENSMUSG00000057977 AA Change: Q290K
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
A |
T |
5: 138,562,454 (GRCm39) |
Y96N |
probably damaging |
Het |
Abca15 |
C |
T |
7: 120,002,202 (GRCm39) |
Q1572* |
probably null |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
Aph1c |
A |
G |
9: 66,740,603 (GRCm39) |
F41S |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Arhgef40 |
T |
C |
14: 52,227,628 (GRCm39) |
V458A |
possibly damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,388,540 (GRCm39) |
T169A |
possibly damaging |
Het |
Cfap58 |
G |
A |
19: 47,963,994 (GRCm39) |
V541M |
possibly damaging |
Het |
Coro2b |
T |
C |
9: 62,333,467 (GRCm39) |
E376G |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,880,526 (GRCm39) |
T3865A |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,134,360 (GRCm39) |
E1549G |
probably benign |
Het |
Ercc6l2 |
T |
C |
13: 64,019,982 (GRCm39) |
|
probably benign |
Het |
Fbxo32 |
G |
T |
15: 58,055,729 (GRCm39) |
T135K |
possibly damaging |
Het |
Fhip2b |
A |
C |
14: 70,824,318 (GRCm39) |
V473G |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,862,235 (GRCm39) |
I2205F |
possibly damaging |
Het |
Gm12034 |
A |
G |
11: 20,396,785 (GRCm39) |
|
noncoding transcript |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Gm5108 |
C |
A |
5: 68,132,496 (GRCm39) |
T55K |
unknown |
Het |
Gpa33 |
A |
T |
1: 165,974,340 (GRCm39) |
D59V |
probably damaging |
Het |
Gpn2 |
T |
A |
4: 133,312,016 (GRCm39) |
Y83N |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,528,453 (GRCm39) |
P460S |
possibly damaging |
Het |
Ifi203 |
A |
T |
1: 173,764,099 (GRCm39) |
S124R |
possibly damaging |
Het |
Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
Ldlrap1 |
T |
A |
4: 134,484,649 (GRCm39) |
|
probably null |
Het |
Madd |
T |
C |
2: 91,008,581 (GRCm39) |
E107G |
probably benign |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
Or52n4 |
A |
G |
7: 104,294,195 (GRCm39) |
V126A |
probably benign |
Het |
Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
Pam |
A |
T |
1: 97,792,119 (GRCm39) |
V434D |
possibly damaging |
Het |
Plxnd1 |
T |
C |
6: 115,942,914 (GRCm39) |
N1257D |
probably benign |
Het |
Prkdc |
C |
T |
16: 15,653,783 (GRCm39) |
A3870V |
probably benign |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,765,611 (GRCm39) |
D1375G |
probably benign |
Het |
Slc13a2 |
A |
G |
11: 78,294,361 (GRCm39) |
|
probably benign |
Het |
Slc7a13 |
T |
C |
4: 19,819,070 (GRCm39) |
F90S |
probably damaging |
Het |
Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
Stard13 |
A |
G |
5: 150,986,164 (GRCm39) |
S331P |
probably benign |
Het |
Sult2a8 |
T |
A |
7: 14,147,608 (GRCm39) |
I228L |
probably benign |
Het |
Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
Tshz1 |
C |
A |
18: 84,034,320 (GRCm39) |
E29D |
probably benign |
Het |
Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
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 |
R5555:Skint11
|
UTSW |
4 |
114,051,798 (GRCm39) |
missense |
probably benign |
0.03 |
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'- TTGTGAACAACAAGTTGCAGTGAG -3'
(R):5'- GTGTCAAGTTTCCAAGTTTCGAGTAC -3'
Sequencing Primer
(F):5'- CAACAAGTTGCAGTGAGAGTGTGTG -3'
(R):5'- AGTTTCCAAGTTTCGAGTACAATTC -3'
|
Posted On |
2015-06-12 |