Incidental Mutation 'R4564:Skint4'
ID |
343234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint4
|
Ensembl Gene |
ENSMUSG00000055960 |
Gene Name |
selection and upkeep of intraepithelial T cells 4 |
Synonyms |
9530098N22Rik |
MMRRC Submission |
041789-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R4564 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 111977066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 152
(T152M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069769]
[ENSMUST00000106564]
[ENSMUST00000106565]
[ENSMUST00000106566]
|
AlphaFold |
A7TZF3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069769
AA Change: T152M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000070676 Gene: ENSMUSG00000055960 AA Change: T152M
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: T152M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102174 Gene: ENSMUSG00000055960 AA Change: T152M
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: T152M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102175 Gene: ENSMUSG00000055960 AA Change: T152M
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: ENSMUST00000106566
AA Change: T160M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102176 Gene: ENSMUSG00000055960 AA Change: T160M
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119233
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
97% (58/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atad3a |
C |
T |
4: 155,831,766 (GRCm39) |
|
probably null |
Het |
Bach2 |
T |
G |
4: 32,563,338 (GRCm39) |
S602A |
probably damaging |
Het |
Ccl19 |
G |
T |
4: 42,756,295 (GRCm39) |
S12R |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,675,402 (GRCm39) |
|
probably benign |
Het |
Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
Cnot3 |
G |
A |
7: 3,656,257 (GRCm39) |
R181H |
probably damaging |
Het |
Dicer1 |
T |
A |
12: 104,671,010 (GRCm39) |
K1011* |
probably null |
Het |
Dip2b |
G |
A |
15: 100,055,139 (GRCm39) |
W99* |
probably null |
Het |
Fpr-rs6 |
A |
T |
17: 20,403,168 (GRCm39) |
Y64* |
probably null |
Het |
Fubp1 |
C |
A |
3: 151,928,573 (GRCm39) |
Y480* |
probably null |
Het |
Gfra1 |
T |
C |
19: 58,227,682 (GRCm39) |
|
probably null |
Het |
Gm10770 |
T |
C |
2: 150,020,831 (GRCm39) |
T229A |
probably benign |
Het |
Gm826 |
A |
C |
2: 160,153,913 (GRCm39) |
|
probably benign |
Het |
Gpd2 |
G |
A |
2: 57,197,095 (GRCm39) |
V217I |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,488,494 (GRCm39) |
I3595T |
probably benign |
Het |
Lmln |
A |
G |
16: 32,930,226 (GRCm39) |
E561G |
probably benign |
Het |
Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
T |
A |
7: 80,018,586 (GRCm39) |
Y91F |
probably benign |
Het |
Map4k4 |
A |
G |
1: 40,028,135 (GRCm39) |
T319A |
probably damaging |
Het |
Mcm6 |
G |
T |
1: 128,271,196 (GRCm39) |
H474Q |
probably damaging |
Het |
Mn1 |
C |
G |
5: 111,568,533 (GRCm39) |
N834K |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Niban3 |
T |
C |
8: 72,057,704 (GRCm39) |
|
probably benign |
Het |
Npas2 |
A |
G |
1: 39,326,647 (GRCm39) |
D44G |
probably damaging |
Het |
Npc1 |
C |
T |
18: 12,324,789 (GRCm39) |
G1235R |
probably damaging |
Het |
Olfml2a |
C |
T |
2: 38,850,306 (GRCm39) |
T674I |
probably benign |
Het |
Or4f58 |
A |
G |
2: 111,852,112 (GRCm39) |
L29P |
possibly damaging |
Het |
Pgap6 |
A |
G |
17: 26,336,837 (GRCm39) |
R252G |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 108,942,488 (GRCm39) |
A1779V |
probably benign |
Het |
Ppil3 |
T |
A |
1: 58,470,481 (GRCm39) |
D123V |
probably damaging |
Het |
Prr23a3 |
A |
G |
9: 98,747,190 (GRCm39) |
E48G |
probably damaging |
Het |
Prr5l |
T |
C |
2: 101,577,094 (GRCm39) |
E110G |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
R3hdm1 |
C |
T |
1: 128,149,396 (GRCm39) |
T839M |
probably benign |
Het |
Rasgrf2 |
G |
A |
13: 92,033,773 (GRCm39) |
Q544* |
probably null |
Het |
Riok3 |
C |
A |
18: 12,281,936 (GRCm39) |
R302S |
probably damaging |
Het |
Rnf145 |
A |
G |
11: 44,439,635 (GRCm39) |
K144E |
probably benign |
Het |
Sin3b |
A |
C |
8: 73,480,209 (GRCm39) |
T904P |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,828,943 (GRCm39) |
I350V |
probably benign |
Het |
Slc6a11 |
G |
T |
6: 114,108,323 (GRCm39) |
G29V |
probably benign |
Het |
Speg |
A |
C |
1: 75,368,478 (GRCm39) |
H676P |
probably damaging |
Het |
St6gal2 |
T |
A |
17: 55,789,648 (GRCm39) |
H227Q |
probably damaging |
Het |
Strn3 |
A |
G |
12: 51,680,404 (GRCm39) |
S399P |
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
Tecpr2 |
T |
A |
12: 110,921,219 (GRCm39) |
M1264K |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,809,961 (GRCm39) |
L1119P |
possibly damaging |
Het |
Upf2 |
A |
C |
2: 6,032,123 (GRCm39) |
T890P |
unknown |
Het |
Upk1b |
T |
A |
16: 38,600,469 (GRCm39) |
K170N |
probably benign |
Het |
Vmn1r78 |
A |
T |
7: 11,886,485 (GRCm39) |
Y32F |
probably damaging |
Het |
Vps11 |
A |
G |
9: 44,272,894 (GRCm39) |
F12S |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,723,741 (GRCm39) |
C1915S |
possibly damaging |
Het |
Zfp346 |
A |
C |
13: 55,261,520 (GRCm39) |
R103S |
probably 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 |
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 |
R7602:Skint4
|
UTSW |
4 |
111,975,468 (GRCm39) |
missense |
possibly damaging |
0.50 |
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'- ACGAACTTCTTAGGCAATGTGC -3'
(R):5'- GGTGAGTTACAAGGTTTTGAAAGTAGC -3'
Sequencing Primer
(F):5'- CAATGTGCATCCTATGTGTTTTGAC -3'
(R):5'- CAAATGACATTCCTGTGAGAGCTG -3'
|
Posted On |
2015-09-24 |