Incidental Mutation 'R4236:Skint11'
ID |
321114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint11
|
Ensembl Gene |
ENSMUSG00000057977 |
Gene Name |
selection and upkeep of intraepithelial T cells 11 |
Synonyms |
A630098G03Rik |
MMRRC Submission |
041053-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4236 (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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
96% (49/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,206,205 (GRCm39) |
K168N |
probably damaging |
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 |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
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 |
Cela1 |
T |
C |
15: 100,580,794 (GRCm39) |
Y91C |
probably damaging |
Het |
Chrnb3 |
C |
A |
8: 27,884,021 (GRCm39) |
L253M |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,230,037 (GRCm39) |
G1493* |
probably null |
Het |
Dnah7a |
C |
T |
1: 53,486,524 (GRCm39) |
E3346K |
probably benign |
Het |
Dock5 |
A |
T |
14: 67,993,941 (GRCm39) |
S1845T |
probably benign |
Het |
Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
Eif1ad8 |
A |
T |
12: 87,563,935 (GRCm39) |
D90V |
probably damaging |
Het |
F2rl1 |
A |
G |
13: 95,649,796 (GRCm39) |
L362P |
probably damaging |
Het |
Gal3st2c |
T |
C |
1: 93,936,463 (GRCm39) |
F136S |
probably damaging |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Klhl23 |
T |
C |
2: 69,654,516 (GRCm39) |
F129L |
probably damaging |
Het |
Krt71 |
T |
C |
15: 101,643,129 (GRCm39) |
T460A |
probably benign |
Het |
Madd |
C |
T |
2: 90,997,373 (GRCm39) |
R746Q |
probably benign |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Myh6 |
T |
G |
14: 55,197,819 (GRCm39) |
M440L |
probably benign |
Het |
Myh7 |
T |
A |
14: 55,228,575 (GRCm39) |
S205C |
probably benign |
Het |
Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,120,923 (GRCm39) |
T683A |
possibly damaging |
Het |
Plcb2 |
A |
T |
2: 118,540,047 (GRCm39) |
L1082Q |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc6a6 |
T |
C |
6: 91,718,257 (GRCm39) |
V357A |
probably damaging |
Het |
Slitrk6 |
T |
C |
14: 110,987,580 (GRCm39) |
E709G |
probably benign |
Het |
Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
Tfcp2l1 |
G |
A |
1: 118,589,795 (GRCm39) |
R285H |
probably benign |
Het |
Tmem132d |
A |
G |
5: 128,509,389 (GRCm39) |
S14P |
possibly damaging |
Het |
Tulp2 |
A |
G |
7: 45,171,298 (GRCm39) |
K360E |
probably damaging |
Het |
Vmn1r60 |
A |
G |
7: 5,547,803 (GRCm39) |
V99A |
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 |
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 |
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'- TTGTGAACAACAAGTTGCAGTG -3'
(R):5'- GTCAAGTTTCCAAGTTTCGAGTAC -3'
Sequencing Primer
(F):5'- CAACAAGTTGCAGTGAGAGTGTGTG -3'
(R):5'- AGTTTCCAAGTTTCGAGTACAATTC -3'
|
Posted On |
2015-06-12 |