Incidental Mutation 'R1486:Skint11'
| ID |
163453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint11
|
| Ensembl Gene |
ENSMUSG00000057977 |
| Gene Name |
selection and upkeep of intraepithelial T cells 11 |
| Synonyms |
A630098G03Rik |
| MMRRC Submission |
039539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1486 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
114020581-114102225 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 114052015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000145797
|
| SMART Domains |
Protein: ENSMUSP00000118895
Gene: ENSMUSG00000057977
| 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 null
Transcript: ENSMUST00000151810
|
| SMART Domains |
Protein: ENSMUSP00000119157
Gene: ENSMUSG00000057977
| 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 null
Transcript: ENSMUST00000164297
|
| SMART Domains |
Protein: ENSMUSP00000127138
Gene: ENSMUSG00000057977
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730015C16Rik |
A |
G |
4: 108,705,143 (GRCm39) |
E19G |
probably benign |
Het |
| A730018C14Rik |
T |
C |
12: 112,382,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acrbp |
T |
A |
6: 125,027,585 (GRCm39) |
Y78N |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,166 (GRCm39) |
S422G |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,386,696 (GRCm39) |
V429A |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,622,260 (GRCm39) |
C454R |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,890 (GRCm39) |
I278T |
probably damaging |
Het |
| Birc6 |
G |
T |
17: 74,946,815 (GRCm39) |
V2845L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,862,274 (GRCm39) |
I1008V |
probably benign |
Het |
| Catsperg1 |
C |
A |
7: 28,884,920 (GRCm39) |
K900N |
probably damaging |
Het |
| Cep20 |
A |
G |
16: 14,118,004 (GRCm39) |
V172A |
probably benign |
Het |
| Chek2 |
T |
G |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,579,338 (GRCm39) |
L633P |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,725,098 (GRCm39) |
S4352T |
probably damaging |
Het |
| Eif3c |
C |
T |
7: 126,163,893 (GRCm39) |
R50Q |
probably damaging |
Het |
| Eml6 |
A |
C |
11: 29,755,114 (GRCm39) |
I887S |
possibly damaging |
Het |
| Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
| Grm4 |
A |
G |
17: 27,653,691 (GRCm39) |
L706P |
probably damaging |
Het |
| Irak3 |
T |
C |
10: 119,978,966 (GRCm39) |
D495G |
probably damaging |
Het |
| Itga9 |
T |
G |
9: 118,455,518 (GRCm39) |
V64G |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,230,309 (GRCm39) |
I759T |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,967,357 (GRCm39) |
F1721I |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,755,395 (GRCm39) |
V390E |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,301,449 (GRCm39) |
T1195I |
probably benign |
Het |
| Mphosph8 |
C |
T |
14: 56,926,496 (GRCm39) |
T646I |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,642,391 (GRCm39) |
V422D |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,308,372 (GRCm39) |
E548G |
probably damaging |
Het |
| Nt5el |
T |
C |
13: 105,246,291 (GRCm39) |
V284A |
probably benign |
Het |
| Nup37 |
T |
C |
10: 87,984,116 (GRCm39) |
Y11H |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,608 (GRCm39) |
V27I |
probably benign |
Het |
| Or51f1e |
A |
T |
7: 102,747,637 (GRCm39) |
I230F |
probably damaging |
Het |
| Or52s19 |
T |
A |
7: 103,008,201 (GRCm39) |
M67L |
possibly damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,825 (GRCm39) |
H65L |
probably damaging |
Het |
| Pcgf1 |
T |
G |
6: 83,056,107 (GRCm39) |
S70R |
probably damaging |
Het |
| Potefam1 |
T |
G |
2: 111,030,703 (GRCm39) |
Q402P |
possibly damaging |
Het |
| Prps1l3 |
C |
T |
12: 57,285,573 (GRCm39) |
A121V |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,792,917 (GRCm39) |
Y57H |
probably damaging |
Het |
| Rbm12b2 |
A |
G |
4: 12,094,841 (GRCm39) |
R567G |
probably benign |
Het |
| Rep15 |
T |
A |
6: 146,934,577 (GRCm39) |
F139I |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,048,954 (GRCm39) |
Y92C |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,477,141 (GRCm39) |
T803A |
probably benign |
Het |
| Sobp |
T |
G |
10: 42,898,518 (GRCm39) |
S356R |
probably benign |
Het |
| Spats2l |
T |
C |
1: 57,939,970 (GRCm39) |
I228T |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,649,565 (GRCm39) |
|
probably null |
Het |
| Stox1 |
T |
C |
10: 62,500,415 (GRCm39) |
D715G |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,219,121 (GRCm39) |
G275W |
probably damaging |
Het |
| Tmc5 |
C |
T |
7: 118,272,655 (GRCm39) |
P942S |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,084,691 (GRCm39) |
I404N |
possibly damaging |
Het |
| Ttc3 |
G |
A |
16: 94,248,988 (GRCm39) |
R1162Q |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,816,808 (GRCm39) |
K164E |
probably damaging |
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 |
|
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 |
|
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'- CCACCCTCAAGCACATTTGACTCTC -3'
(R):5'- CCTTGACTCCTCTTATCCACAAAGACAC -3'
Sequencing Primer
(F):5'- CACATTTGACTCTCAGGATAGAGC -3'
(R):5'- aaagaccagaaaggggcac -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation