Incidental Mutation 'R5850:Skint8'
| ID |
454611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint8
|
| Ensembl Gene |
ENSMUSG00000078599 |
| Gene Name |
selection and upkeep of intraepithelial T cells 8 |
| Synonyms |
OTTMUSG00000009475 |
| MMRRC Submission |
043226-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R5850 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
111776643-111807558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 111807390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 359
(L359M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165046]
|
| AlphaFold |
A7XV07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165046
AA Change: L359M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: L359M
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Abhd14a |
A |
C |
9: 106,317,548 (GRCm39) |
L225R |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,216,790 (GRCm39) |
S39P |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,451,116 (GRCm39) |
S2637P |
possibly damaging |
Het |
| Apold1 |
T |
C |
6: 134,961,058 (GRCm39) |
F171L |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,587,049 (GRCm39) |
M967T |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,543,785 (GRCm39) |
|
probably null |
Het |
| Bcl2l15 |
T |
A |
3: 103,743,432 (GRCm39) |
V111D |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,149 (GRCm39) |
M1201K |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,859,747 (GRCm39) |
N965Y |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,577 (GRCm39) |
Y98H |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,460,775 (GRCm39) |
R117* |
probably null |
Het |
| Dlgap1 |
G |
A |
17: 71,094,087 (GRCm39) |
V803M |
probably damaging |
Het |
| Drd3 |
A |
C |
16: 43,638,695 (GRCm39) |
M299L |
probably benign |
Het |
| Ergic2 |
C |
A |
6: 148,084,605 (GRCm39) |
M34I |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,004 (GRCm39) |
D92E |
possibly damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,086,111 (GRCm39) |
|
probably benign |
Het |
| Ganab |
C |
T |
19: 8,889,071 (GRCm39) |
R591W |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,683,172 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,401,099 (GRCm39) |
E813G |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,247,675 (GRCm39) |
T1621A |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,554,124 (GRCm39) |
Q139* |
probably null |
Het |
| Os9 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
10: 126,934,348 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
T |
G |
14: 54,605,121 (GRCm39) |
V11G |
possibly damaging |
Het |
| Padi1 |
A |
G |
4: 140,542,141 (GRCm39) |
Y594H |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,903,667 (GRCm39) |
F327I |
probably benign |
Het |
| Prf1 |
G |
T |
10: 61,135,972 (GRCm39) |
A83S |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,981,127 (GRCm39) |
E470G |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Slc19a2 |
A |
G |
1: 164,091,025 (GRCm39) |
I278V |
probably benign |
Het |
| Smco1 |
A |
T |
16: 32,092,674 (GRCm39) |
N115I |
probably damaging |
Het |
| Smyd3 |
G |
A |
1: 178,871,420 (GRCm39) |
L320F |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,098,900 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,144,749 (GRCm39) |
D1566G |
probably damaging |
Het |
| Tpm2 |
T |
C |
4: 43,523,296 (GRCm39) |
D20G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,281,045 (GRCm39) |
Y241C |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 122,960,417 (GRCm39) |
|
probably null |
Het |
| Wdr45b |
A |
G |
11: 121,221,923 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,745,414 (GRCm39) |
I468V |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
R5754:Skint8
|
UTSW |
4 |
111,807,387 (GRCm39) |
missense |
probably benign |
|
|
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'- GACATTTGGTAGCATGCAAAGG -3'
(R):5'- AAGACCTAGGCAAATGAAGTCC -3'
Sequencing Primer
(F):5'- GTTGAACCTATAGTACACAATCTCAC -3'
(R):5'- AATCTTCTTCAAAGACATGGCCTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation