Incidental Mutation 'R5754:Skint8'
ID |
444940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint8
|
Ensembl Gene |
ENSMUSG00000078599 |
Gene Name |
selection and upkeep of intraepithelial T cells 8 |
Synonyms |
OTTMUSG00000009475 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5754 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111776643-111807558 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111807387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 358
(C358S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165046]
|
AlphaFold |
A7XV07 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165046
AA Change: C358S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133268 Gene: ENSMUSG00000078599 AA Change: C358S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
34 |
141 |
3.13e-5 |
SMART |
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
transmembrane domain
|
285 |
307 |
N/A |
INTRINSIC |
transmembrane domain
|
327 |
352 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,984,320 (GRCm39) |
N683K |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,160,367 (GRCm39) |
S609P |
probably damaging |
Het |
Camk1d |
G |
T |
2: 5,449,908 (GRCm39) |
P91Q |
probably benign |
Het |
Camk1d |
G |
C |
2: 5,449,910 (GRCm39) |
S90R |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,885,524 (GRCm39) |
E345G |
probably damaging |
Het |
Ccpg1 |
G |
T |
9: 72,920,526 (GRCm39) |
V714L |
possibly damaging |
Het |
Chst9 |
T |
C |
18: 15,586,254 (GRCm39) |
E103G |
possibly damaging |
Het |
Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
Crb1 |
T |
C |
1: 139,159,337 (GRCm39) |
Y1295C |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,402,014 (GRCm39) |
T3392A |
probably benign |
Het |
Elp3 |
C |
A |
14: 65,785,439 (GRCm39) |
R473L |
probably damaging |
Het |
Epgn |
T |
A |
5: 91,181,807 (GRCm39) |
I145N |
probably benign |
Het |
Fam107b |
G |
A |
2: 3,779,457 (GRCm39) |
G220D |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,257,383 (GRCm39) |
V328A |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,639,481 (GRCm39) |
I1770N |
probably damaging |
Het |
Fndc1 |
T |
A |
17: 7,988,585 (GRCm39) |
Y1159F |
unknown |
Het |
Frem2 |
A |
G |
3: 53,444,679 (GRCm39) |
L2484P |
probably damaging |
Het |
Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,243,237 (GRCm39) |
V1789D |
possibly damaging |
Het |
Hmgcl |
T |
C |
4: 135,677,898 (GRCm39) |
V33A |
probably damaging |
Het |
Ighv7-1 |
A |
G |
12: 113,860,239 (GRCm39) |
F51S |
probably damaging |
Het |
Kcna6 |
A |
G |
6: 126,716,688 (GRCm39) |
L67P |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,123,030 (GRCm39) |
V720E |
probably benign |
Het |
Lrch1 |
T |
C |
14: 75,054,558 (GRCm39) |
D312G |
probably damaging |
Het |
Mix23 |
A |
G |
16: 35,905,427 (GRCm39) |
N63S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,206,794 (GRCm39) |
T1540A |
probably damaging |
Het |
Nisch |
A |
T |
14: 30,913,373 (GRCm39) |
|
probably benign |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,177,839 (GRCm39) |
Y524H |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,377,916 (GRCm39) |
T25A |
possibly damaging |
Het |
Nusap1 |
A |
G |
2: 119,477,580 (GRCm39) |
K363R |
probably damaging |
Het |
Or5ar1 |
T |
C |
2: 85,671,656 (GRCm39) |
T160A |
probably damaging |
Het |
Or5b124 |
A |
G |
19: 13,611,357 (GRCm39) |
E294G |
probably damaging |
Het |
Or7e177 |
T |
A |
9: 20,212,390 (GRCm39) |
L298Q |
probably damaging |
Het |
Pde4d |
T |
C |
13: 110,074,547 (GRCm39) |
I384T |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,593,875 (GRCm39) |
R1413* |
probably null |
Het |
Plcd3 |
T |
A |
11: 102,964,592 (GRCm39) |
Y593F |
possibly damaging |
Het |
Plxna1 |
A |
T |
6: 89,310,087 (GRCm39) |
I1026N |
possibly damaging |
Het |
Podxl |
T |
A |
6: 31,501,329 (GRCm39) |
I409F |
probably damaging |
Het |
Polq |
A |
C |
16: 36,837,625 (GRCm39) |
Q179P |
probably benign |
Het |
Pomt1 |
T |
C |
2: 32,137,602 (GRCm39) |
V401A |
probably damaging |
Het |
Qdpr |
C |
T |
5: 45,596,727 (GRCm39) |
G146S |
probably damaging |
Het |
Shc4 |
T |
A |
2: 125,512,218 (GRCm39) |
Q2L |
probably damaging |
Het |
Smc5 |
T |
C |
19: 23,221,467 (GRCm39) |
E354G |
possibly damaging |
Het |
Snx30 |
T |
C |
4: 59,868,275 (GRCm39) |
V129A |
probably damaging |
Het |
Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Spag6 |
T |
A |
2: 18,703,613 (GRCm39) |
|
probably benign |
Het |
Trim28 |
T |
A |
7: 12,763,036 (GRCm39) |
Y450N |
probably benign |
Het |
Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
Umodl1 |
T |
A |
17: 31,213,761 (GRCm39) |
V966E |
probably damaging |
Het |
Utf1 |
A |
G |
7: 139,524,704 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
T |
C |
7: 11,403,776 (GRCm39) |
Y224C |
probably damaging |
Het |
Whrn |
A |
G |
4: 63,334,825 (GRCm39) |
S748P |
probably damaging |
Het |
Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
C |
8: 109,526,964 (GRCm39) |
F954L |
probably damaging |
Het |
Zfp456 |
A |
T |
13: 67,514,359 (GRCm39) |
I449K |
probably benign |
Het |
|
Other mutations in Skint8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00772:Skint8
|
APN |
4 |
111,796,120 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01411:Skint8
|
APN |
4 |
111,794,103 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02973:Skint8
|
APN |
4 |
111,796,790 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03154:Skint8
|
APN |
4 |
111,796,707 (GRCm39) |
splice site |
probably null |
|
FR4976:Skint8
|
UTSW |
4 |
111,796,099 (GRCm39) |
missense |
probably benign |
0.02 |
R0309:Skint8
|
UTSW |
4 |
111,796,064 (GRCm39) |
missense |
probably benign |
0.02 |
R0448:Skint8
|
UTSW |
4 |
111,794,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R0483:Skint8
|
UTSW |
4 |
111,796,020 (GRCm39) |
splice site |
probably benign |
|
R0586:Skint8
|
UTSW |
4 |
111,794,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R1076:Skint8
|
UTSW |
4 |
111,784,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1169:Skint8
|
UTSW |
4 |
111,785,710 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1588:Skint8
|
UTSW |
4 |
111,785,924 (GRCm39) |
nonsense |
probably null |
|
R1707:Skint8
|
UTSW |
4 |
111,796,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R1865:Skint8
|
UTSW |
4 |
111,794,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Skint8
|
UTSW |
4 |
111,807,278 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2147:Skint8
|
UTSW |
4 |
111,794,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R2896:Skint8
|
UTSW |
4 |
111,807,333 (GRCm39) |
missense |
probably null |
|
R4945:Skint8
|
UTSW |
4 |
111,796,805 (GRCm39) |
missense |
probably damaging |
0.96 |
R5019:Skint8
|
UTSW |
4 |
111,785,845 (GRCm39) |
missense |
probably damaging |
0.99 |
R5281:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5284:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5289:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5309:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5310:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5588:Skint8
|
UTSW |
4 |
111,794,089 (GRCm39) |
missense |
probably benign |
0.01 |
R5636:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5637:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5638:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5639:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5719:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5720:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5850:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5855:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R6036:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R6525:Skint8
|
UTSW |
4 |
111,785,935 (GRCm39) |
missense |
probably damaging |
0.98 |
R6554:Skint8
|
UTSW |
4 |
111,784,413 (GRCm39) |
missense |
probably benign |
0.35 |
R6578:Skint8
|
UTSW |
4 |
111,794,159 (GRCm39) |
missense |
probably benign |
0.03 |
R6841:Skint8
|
UTSW |
4 |
111,785,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:Skint8
|
UTSW |
4 |
111,794,222 (GRCm39) |
missense |
probably benign |
0.16 |
R7317:Skint8
|
UTSW |
4 |
111,796,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7336:Skint8
|
UTSW |
4 |
111,796,769 (GRCm39) |
missense |
probably benign |
0.32 |
R7412:Skint8
|
UTSW |
4 |
111,785,758 (GRCm39) |
missense |
probably benign |
0.07 |
R7480:Skint8
|
UTSW |
4 |
111,785,784 (GRCm39) |
nonsense |
probably null |
|
R8027:Skint8
|
UTSW |
4 |
111,785,936 (GRCm39) |
missense |
probably benign |
0.36 |
R8204:Skint8
|
UTSW |
4 |
111,796,090 (GRCm39) |
missense |
probably benign |
0.03 |
R8963:Skint8
|
UTSW |
4 |
111,794,241 (GRCm39) |
missense |
probably benign |
0.03 |
R9084:Skint8
|
UTSW |
4 |
111,794,210 (GRCm39) |
missense |
probably benign |
0.11 |
R9249:Skint8
|
UTSW |
4 |
111,794,159 (GRCm39) |
missense |
probably damaging |
0.98 |
R9283:Skint8
|
UTSW |
4 |
111,785,644 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Skint8
|
UTSW |
4 |
111,794,251 (GRCm39) |
missense |
probably benign |
0.39 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATTTGGTAGCATGCAAAGG -3'
(R):5'- GGCAAATGAAGTCCATACCTCAG -3'
Sequencing Primer
(F):5'- GTTGAACCTATAGTACACAATCTCAC -3'
(R):5'- AATCTTCTTCAAAGACATGGCCTC -3'
|
Posted On |
2016-11-21 |