Incidental Mutation 'R5588:Skint8'
ID |
438879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint8
|
Ensembl Gene |
ENSMUSG00000078599 |
Gene Name |
selection and upkeep of intraepithelial T cells 8 |
Synonyms |
OTTMUSG00000009475 |
MMRRC Submission |
043268-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5588 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
111776643-111807558 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 111794089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 160
(M160L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106572]
[ENSMUST00000165046]
|
AlphaFold |
A7XV07 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106572
AA Change: M160L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000102182 Gene: ENSMUSG00000078599 AA Change: M160L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
34 |
141 |
3.13e-5 |
SMART |
Blast:IG_like
|
148 |
231 |
9e-16 |
BLAST |
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
transmembrane domain
|
285 |
307 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124862
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165046
AA Change: M160L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000133268 Gene: ENSMUSG00000078599 AA Change: M160L
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
C |
A |
15: 81,949,417 (GRCm39) |
Q1105K |
possibly damaging |
Het |
Afg3l2 |
A |
T |
18: 67,573,277 (GRCm39) |
V175D |
possibly damaging |
Het |
Aldh1a2 |
G |
A |
9: 71,190,732 (GRCm39) |
R325H |
probably damaging |
Het |
Arhgef18 |
T |
A |
8: 3,438,878 (GRCm39) |
|
probably benign |
Het |
Atp8a1 |
A |
G |
5: 67,972,027 (GRCm39) |
L43P |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,256,937 (GRCm39) |
|
probably null |
Het |
Ccdc85c |
T |
C |
12: 108,177,793 (GRCm39) |
Y320C |
probably damaging |
Het |
Cobl |
A |
T |
11: 12,293,886 (GRCm39) |
L290* |
probably null |
Het |
Cyp2c66 |
A |
G |
19: 39,151,858 (GRCm39) |
D191G |
possibly damaging |
Het |
Dhx34 |
T |
C |
7: 15,932,825 (GRCm39) |
H1038R |
probably damaging |
Het |
Eea1 |
T |
C |
10: 95,859,772 (GRCm39) |
V686A |
probably benign |
Het |
Eif2b4 |
A |
T |
5: 31,349,517 (GRCm39) |
C101* |
probably null |
Het |
Eif4a3 |
A |
C |
11: 119,186,952 (GRCm39) |
S84A |
probably benign |
Het |
Elfn2 |
T |
C |
15: 78,558,076 (GRCm39) |
D157G |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,173,103 (GRCm39) |
I2537F |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,659,248 (GRCm39) |
F350L |
probably damaging |
Het |
Fgd3 |
A |
T |
13: 49,440,786 (GRCm39) |
L215Q |
probably damaging |
Het |
Fhdc1 |
A |
G |
3: 84,372,783 (GRCm39) |
V73A |
possibly damaging |
Het |
Gapvd1 |
T |
A |
2: 34,599,166 (GRCm39) |
T690S |
probably damaging |
Het |
Gask1a |
C |
T |
9: 121,794,247 (GRCm39) |
Q134* |
probably null |
Het |
Gm14418 |
A |
T |
2: 177,079,065 (GRCm39) |
I310K |
probably benign |
Het |
Gm5141 |
A |
T |
13: 62,921,584 (GRCm39) |
N528K |
probably benign |
Het |
Gsap |
A |
C |
5: 21,456,147 (GRCm39) |
E417A |
probably damaging |
Het |
Kcnab1 |
A |
C |
3: 65,283,976 (GRCm39) |
D398A |
possibly damaging |
Het |
Kif5b |
T |
G |
18: 6,225,787 (GRCm39) |
N160T |
probably benign |
Het |
Lilrb4b |
G |
A |
10: 51,357,422 (GRCm39) |
R86Q |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,134,026 (GRCm39) |
|
probably null |
Het |
Mlph |
T |
C |
1: 90,859,321 (GRCm39) |
S219P |
possibly damaging |
Het |
Ncapg2 |
T |
C |
12: 116,376,697 (GRCm39) |
I95T |
possibly damaging |
Het |
Nedd9 |
A |
T |
13: 41,469,437 (GRCm39) |
I572N |
possibly damaging |
Het |
Nup155 |
G |
A |
15: 8,148,737 (GRCm39) |
|
probably null |
Het |
Olfml2a |
T |
C |
2: 38,850,047 (GRCm39) |
S588P |
probably damaging |
Het |
Or4a68 |
T |
C |
2: 89,269,760 (GRCm39) |
R288G |
probably damaging |
Het |
Or4c12 |
T |
A |
2: 89,774,136 (GRCm39) |
T108S |
probably benign |
Het |
Or6c1 |
T |
G |
10: 129,517,705 (GRCm39) |
N301T |
possibly damaging |
Het |
Parva |
C |
A |
7: 112,159,269 (GRCm39) |
N142K |
possibly damaging |
Het |
Pclo |
T |
A |
5: 14,838,412 (GRCm39) |
S4678R |
unknown |
Het |
Pcnt |
T |
C |
10: 76,278,445 (GRCm39) |
D3G |
possibly damaging |
Het |
Pdzd2 |
A |
C |
15: 12,374,367 (GRCm39) |
S1923A |
possibly damaging |
Het |
Per1 |
G |
A |
11: 68,998,453 (GRCm39) |
G1055D |
probably damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,249 (GRCm39) |
Q518* |
probably null |
Het |
Plb1 |
G |
A |
5: 32,487,293 (GRCm39) |
|
probably null |
Het |
Ppp1r14a |
C |
T |
7: 28,992,709 (GRCm39) |
P137L |
probably damaging |
Het |
Rfx2 |
A |
T |
17: 57,086,890 (GRCm39) |
S612T |
possibly damaging |
Het |
Rtel1 |
T |
C |
2: 180,993,893 (GRCm39) |
F642L |
probably benign |
Het |
Sec14l3 |
T |
C |
11: 4,016,138 (GRCm39) |
F19S |
probably damaging |
Het |
Slc19a3 |
G |
T |
1: 83,000,776 (GRCm39) |
Y80* |
probably null |
Het |
Slc37a1 |
T |
A |
17: 31,565,431 (GRCm39) |
W489R |
probably damaging |
Het |
Smc4 |
A |
G |
3: 68,933,190 (GRCm39) |
I604V |
probably benign |
Het |
Srprb |
G |
T |
9: 103,076,048 (GRCm39) |
Y796* |
probably null |
Het |
Tdrd7 |
T |
A |
4: 45,992,225 (GRCm39) |
S220T |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,067,215 (GRCm39) |
F2215S |
probably damaging |
Het |
Ticrr |
C |
T |
7: 79,328,853 (GRCm39) |
A664V |
probably damaging |
Het |
Tnc |
T |
G |
4: 63,924,659 (GRCm39) |
D1013A |
possibly damaging |
Het |
Tpte |
T |
A |
8: 22,774,983 (GRCm39) |
Y18N |
possibly damaging |
Het |
Ubqlnl |
T |
A |
7: 103,798,339 (GRCm39) |
Q386L |
probably damaging |
Het |
Vmn1r194 |
T |
C |
13: 22,428,512 (GRCm39) |
V43A |
possibly damaging |
Het |
Vmn2r130 |
A |
T |
17: 23,282,803 (GRCm39) |
Q161L |
probably benign |
Het |
Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
Zfhx4 |
T |
G |
3: 5,468,198 (GRCm39) |
D2785E |
probably damaging |
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 |
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 |
R5754:Skint8
|
UTSW |
4 |
111,807,387 (GRCm39) |
missense |
probably benign |
|
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'- CATCAACTGCCAAATGGTTACTC -3'
(R):5'- CTGTTACAGGGTTGGAAATACAG -3'
Sequencing Primer
(F):5'- ACTGCCAAATGGTTACTCTAAATTG -3'
(R):5'- TTACAGGGTTGGAAATACAGCAAATG -3'
|
Posted On |
2016-10-26 |