Incidental Mutation 'R7602:Skint4'
| ID |
588049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint4
|
| Ensembl Gene |
ENSMUSG00000055960 |
| Gene Name |
selection and upkeep of intraepithelial T cells 4 |
| Synonyms |
9530098N22Rik |
| MMRRC Submission |
045674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R7602 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111975468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 143
(T143S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069769]
[ENSMUST00000106564]
[ENSMUST00000106565]
[ENSMUST00000106566]
|
| AlphaFold |
A7TZF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069769
AA Change: T135S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: T135S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
33 |
140 |
7.24e-10 |
SMART |
|
Pfam:C2-set_2
|
141 |
227 |
6.2e-8 |
PFAM |
|
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106564
AA Change: T135S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: T135S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
33 |
140 |
7.24e-10 |
SMART |
|
Pfam:C2-set_2
|
141 |
227 |
6.2e-8 |
PFAM |
|
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106565
AA Change: T135S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: T135S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
33 |
140 |
7.24e-10 |
SMART |
|
Pfam:C2-set_2
|
141 |
227 |
6.2e-8 |
PFAM |
|
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106566
AA Change: T143S
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: T143S
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
41 |
148 |
7.24e-10 |
SMART |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
transmembrane domain
|
304 |
326 |
N/A |
INTRINSIC |
|
transmembrane domain
|
350 |
372 |
N/A |
INTRINSIC |
|
transmembrane domain
|
391 |
413 |
N/A |
INTRINSIC |
|
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
A |
T |
1: 151,856,266 (GRCm39) |
Y34N |
probably damaging |
Het |
| A2m |
T |
C |
6: 121,618,966 (GRCm39) |
V237A |
probably damaging |
Het |
| A2m |
A |
T |
6: 121,647,895 (GRCm39) |
D1129V |
possibly damaging |
Het |
| Aadacl2fm3 |
T |
C |
3: 59,784,697 (GRCm39) |
I390T |
probably benign |
Het |
| Abca7 |
A |
G |
10: 79,833,846 (GRCm39) |
|
probably null |
Het |
| Adam34l |
C |
T |
8: 44,079,703 (GRCm39) |
G174R |
probably damaging |
Het |
| Ap3m2 |
T |
C |
8: 23,282,770 (GRCm39) |
N256S |
probably benign |
Het |
| Atr |
C |
T |
9: 95,789,436 (GRCm39) |
H1531Y |
possibly damaging |
Het |
| Carmil3 |
C |
T |
14: 55,738,965 (GRCm39) |
A873V |
probably null |
Het |
| Casp8 |
A |
C |
1: 58,872,898 (GRCm39) |
K258T |
probably benign |
Het |
| Cast |
A |
G |
13: 74,885,084 (GRCm39) |
S222P |
probably benign |
Het |
| Cpsf7 |
C |
T |
19: 10,512,737 (GRCm39) |
P274S |
probably damaging |
Het |
| Ddx24 |
A |
T |
12: 103,382,519 (GRCm39) |
L688* |
probably null |
Het |
| Ddx59 |
A |
G |
1: 136,361,559 (GRCm39) |
I475V |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,081,093 (GRCm39) |
S376T |
possibly damaging |
Het |
| Dhx57 |
G |
T |
17: 80,582,290 (GRCm39) |
N438K |
probably benign |
Het |
| Dlk1 |
T |
A |
12: 109,421,551 (GRCm39) |
|
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,091,004 (GRCm39) |
M114V |
probably benign |
Het |
| Epha6 |
T |
C |
16: 59,595,931 (GRCm39) |
D920G |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,778,818 (GRCm39) |
V349E |
probably benign |
Het |
| Fam234b |
T |
C |
6: 135,202,241 (GRCm39) |
V321A |
possibly damaging |
Het |
| Gbp3 |
A |
G |
3: 142,274,822 (GRCm39) |
E383G |
probably benign |
Het |
| Gga2 |
T |
C |
7: 121,596,553 (GRCm39) |
N408S |
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,296,043 (GRCm39) |
V532A |
unknown |
Het |
| Hnrnpul2 |
T |
C |
19: 8,808,673 (GRCm39) |
Y712H |
probably damaging |
Het |
| Hpca |
T |
C |
4: 129,014,019 (GRCm39) |
|
probably benign |
Het |
| Ifitm3 |
A |
G |
7: 140,590,372 (GRCm39) |
F63L |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,153,135 (GRCm39) |
C252* |
probably null |
Het |
| Kank1 |
A |
T |
19: 25,399,525 (GRCm39) |
T940S |
probably benign |
Het |
| Klhl9 |
C |
A |
4: 88,640,646 (GRCm39) |
|
probably benign |
Het |
| Krt36 |
T |
C |
11: 99,993,786 (GRCm39) |
M351V |
probably benign |
Het |
| Mthfd2 |
T |
C |
6: 83,288,830 (GRCm39) |
N125D |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Ncoa2 |
A |
G |
1: 13,247,350 (GRCm39) |
S358P |
possibly damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,557,808 (GRCm39) |
H78R |
probably benign |
Het |
| Or10s1 |
T |
G |
9: 39,986,455 (GRCm39) |
L288R |
probably damaging |
Het |
| Or5k1 |
T |
C |
16: 58,617,343 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or5m13b |
A |
T |
2: 85,754,146 (GRCm39) |
Y178F |
probably damaging |
Het |
| Or9r3 |
A |
G |
10: 129,948,179 (GRCm39) |
M160T |
probably benign |
Het |
| Pabpc4 |
A |
T |
4: 123,186,685 (GRCm39) |
D302V |
possibly damaging |
Het |
| Pgap1 |
A |
T |
1: 54,582,345 (GRCm39) |
S167R |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,914,109 (GRCm39) |
L517P |
probably benign |
Het |
| Rcan2 |
A |
G |
17: 44,328,689 (GRCm39) |
D86G |
probably benign |
Het |
| Ryk |
T |
C |
9: 102,775,715 (GRCm39) |
Y442H |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,623,271 (GRCm39) |
Q421K |
probably benign |
Het |
| Sirpa |
G |
T |
2: 129,451,072 (GRCm39) |
V111F |
probably damaging |
Het |
| Slc12a8 |
C |
A |
16: 33,445,494 (GRCm39) |
H463N |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Sptlc2 |
A |
G |
12: 87,388,463 (GRCm39) |
Y340H |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,945,745 (GRCm39) |
W926R |
possibly damaging |
Het |
| Tgfa |
A |
G |
6: 86,246,944 (GRCm39) |
E82G |
probably damaging |
Het |
| Thrsp |
A |
G |
7: 97,066,514 (GRCm39) |
I66T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,681,988 (GRCm39) |
E1003G |
unknown |
Het |
| Tube1 |
A |
T |
10: 39,018,262 (GRCm39) |
H113L |
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,681,053 (GRCm39) |
V117A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,380,606 (GRCm39) |
C2305Y |
probably damaging |
Het |
| Zbtb7a |
T |
G |
10: 80,980,010 (GRCm39) |
V68G |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,159,763 (GRCm39) |
D686E |
possibly damaging |
Het |
| Zscan4f |
G |
A |
7: 11,135,308 (GRCm39) |
S238N |
possibly damaging |
Het |
|
| Other mutations in Skint4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Skint4
|
APN |
4 |
111,977,207 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01654:Skint4
|
APN |
4 |
111,977,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02040:Skint4
|
APN |
4 |
112,003,679 (GRCm39) |
splice site |
probably benign |
|
|
IGL02328:Skint4
|
APN |
4 |
111,977,255 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02811:Skint4
|
APN |
4 |
111,944,200 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02965:Skint4
|
APN |
4 |
111,993,218 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03039:Skint4
|
APN |
4 |
111,981,847 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03060:Skint4
|
APN |
4 |
111,975,432 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03075:Skint4
|
APN |
4 |
111,944,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03352:Skint4
|
APN |
4 |
112,022,883 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
PIT4378001:Skint4
|
UTSW |
4 |
111,944,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0483:Skint4
|
UTSW |
4 |
111,975,136 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Skint4
|
UTSW |
4 |
111,981,793 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1446:Skint4
|
UTSW |
4 |
111,975,311 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1641:Skint4
|
UTSW |
4 |
111,993,240 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1983:Skint4
|
UTSW |
4 |
112,003,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2168:Skint4
|
UTSW |
4 |
111,944,183 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2272:Skint4
|
UTSW |
4 |
111,977,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2287:Skint4
|
UTSW |
4 |
111,975,402 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3801:Skint4
|
UTSW |
4 |
111,975,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3802:Skint4
|
UTSW |
4 |
111,975,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3804:Skint4
|
UTSW |
4 |
111,975,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4009:Skint4
|
UTSW |
4 |
111,977,306 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4050:Skint4
|
UTSW |
4 |
111,981,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4564:Skint4
|
UTSW |
4 |
111,977,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4581:Skint4
|
UTSW |
4 |
111,944,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4587:Skint4
|
UTSW |
4 |
111,944,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4674:Skint4
|
UTSW |
4 |
111,975,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4723:Skint4
|
UTSW |
4 |
111,975,433 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4753:Skint4
|
UTSW |
4 |
112,003,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4775:Skint4
|
UTSW |
4 |
111,993,261 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4832:Skint4
|
UTSW |
4 |
112,000,963 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5299:Skint4
|
UTSW |
4 |
111,993,203 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6118:Skint4
|
UTSW |
4 |
111,977,019 (GRCm39) |
splice site |
probably null |
|
|
R6433:Skint4
|
UTSW |
4 |
112,003,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6616:Skint4
|
UTSW |
4 |
111,975,427 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6698:Skint4
|
UTSW |
4 |
111,977,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Skint4
|
UTSW |
4 |
111,977,060 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7034:Skint4
|
UTSW |
4 |
112,015,281 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7102:Skint4
|
UTSW |
4 |
111,975,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Skint4
|
UTSW |
4 |
112,015,182 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8038:Skint4
|
UTSW |
4 |
111,977,003 (GRCm39) |
intron |
probably benign |
|
|
R8147:Skint4
|
UTSW |
4 |
111,993,218 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8375:Skint4
|
UTSW |
4 |
111,975,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8682:Skint4
|
UTSW |
4 |
111,993,237 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8695:Skint4
|
UTSW |
4 |
111,975,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Skint4
|
UTSW |
4 |
112,022,932 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9361:Skint4
|
UTSW |
4 |
112,001,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9516:Skint4
|
UTSW |
4 |
112,015,236 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGTGCACCTATACCGTAATG -3'
(R):5'- TGGAAAACTTCTAAAGTGCTGTCAG -3'
Sequencing Primer
(F):5'- CCGTAATGGTAAAAACCTACATGG -3'
(R):5'- AGTGCTGTCAGAAATAATTGACAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation