Incidental Mutation 'R8038:Skint4'
ID |
642056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint4
|
Ensembl Gene |
ENSMUSG00000055960 |
Gene Name |
selection and upkeep of intraepithelial T cells 4 |
Synonyms |
9530098N22Rik |
MMRRC Submission |
067475-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R8038 (G1)
|
Quality Score |
211.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to G
at 111977003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069769]
[ENSMUST00000106564]
[ENSMUST00000106565]
[ENSMUST00000106566]
|
AlphaFold |
A7TZF3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069769
|
SMART Domains |
Protein: ENSMUSP00000070676 Gene: ENSMUSG00000055960
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 benign
Transcript: ENSMUST00000106564
|
SMART Domains |
Protein: ENSMUSP00000102174 Gene: ENSMUSG00000055960
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 benign
Transcript: ENSMUST00000106565
|
SMART Domains |
Protein: ENSMUSP00000102175 Gene: ENSMUSG00000055960
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 benign
Transcript: ENSMUST00000106566
|
SMART Domains |
Protein: ENSMUSP00000102176 Gene: ENSMUSG00000055960
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: 99.3%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,106,730 (GRCm39) |
M143K |
probably damaging |
Het |
Accs |
A |
T |
2: 93,673,262 (GRCm39) |
|
probably null |
Het |
Alkbh5 |
T |
C |
11: 60,429,811 (GRCm39) |
V188A |
probably damaging |
Het |
Cacna1h |
C |
T |
17: 25,594,865 (GRCm39) |
V2098I |
probably damaging |
Het |
Chuk |
A |
G |
19: 44,067,416 (GRCm39) |
Y580H |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
Cops2 |
A |
T |
2: 125,674,206 (GRCm39) |
H420Q |
probably benign |
Het |
Ctcfl |
A |
T |
2: 172,943,698 (GRCm39) |
C551S |
probably damaging |
Het |
Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
Fam90a1a |
A |
T |
8: 22,453,455 (GRCm39) |
N270I |
possibly damaging |
Het |
Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
Ighe |
A |
T |
12: 113,233,053 (GRCm39) |
V456D |
|
Het |
Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
Itga2 |
A |
T |
13: 114,990,291 (GRCm39) |
N921K |
probably damaging |
Het |
Kdm2b |
T |
C |
5: 123,098,958 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
T |
G |
11: 115,741,929 (GRCm39) |
M657R |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,630,890 (GRCm39) |
I1019K |
possibly damaging |
Het |
Lrriq3 |
A |
T |
3: 154,869,638 (GRCm39) |
D321V |
probably benign |
Het |
Lsm10 |
T |
C |
4: 125,991,890 (GRCm39) |
V82A |
probably damaging |
Het |
Mettl3 |
A |
G |
14: 52,537,421 (GRCm39) |
S154P |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,298,570 (GRCm39) |
I489V |
probably benign |
Het |
Nat8f5 |
T |
A |
6: 85,794,667 (GRCm39) |
T98S |
possibly damaging |
Het |
Or10w1 |
G |
A |
19: 13,632,719 (GRCm39) |
V309M |
possibly damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,212 (GRCm39) |
L186Q |
probably damaging |
Het |
Or7e166 |
G |
T |
9: 19,624,976 (GRCm39) |
M284I |
possibly damaging |
Het |
Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Pld5 |
T |
C |
1: 175,872,463 (GRCm39) |
I225V |
probably benign |
Het |
Ppfia1 |
C |
A |
7: 144,068,653 (GRCm39) |
A414S |
possibly damaging |
Het |
Ppib |
T |
C |
9: 65,967,615 (GRCm39) |
V23A |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,956,387 (GRCm39) |
S361T |
probably benign |
Het |
Rap1gap2 |
T |
C |
11: 74,283,109 (GRCm39) |
S664G |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,818,178 (GRCm39) |
V285A |
possibly damaging |
Het |
Rtn4rl1 |
G |
C |
11: 75,156,707 (GRCm39) |
E380Q |
possibly damaging |
Het |
Scarb2 |
A |
T |
5: 92,599,307 (GRCm39) |
S338T |
probably damaging |
Het |
Slc13a5 |
T |
C |
11: 72,144,196 (GRCm39) |
K294R |
probably benign |
Het |
Spib |
A |
G |
7: 44,179,310 (GRCm39) |
F32S |
probably benign |
Het |
Spint2 |
A |
G |
7: 28,959,554 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
Tmem126b |
C |
T |
7: 90,118,830 (GRCm39) |
V153I |
probably benign |
Het |
Uba2 |
A |
T |
7: 33,847,022 (GRCm39) |
Y440N |
probably damaging |
Het |
Vwa2 |
A |
G |
19: 56,886,320 (GRCm39) |
E129G |
probably benign |
Het |
Wapl |
A |
G |
14: 34,413,639 (GRCm39) |
D167G |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
probably damaging |
Het |
Zfp786 |
C |
T |
6: 47,798,188 (GRCm39) |
R250H |
probably benign |
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 |
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 |
|
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'- CCAAAGATGAACTACCATTTCTTAGTC -3'
(R):5'- TGTGGCTTGAATGACCTCTC -3'
Sequencing Primer
(F):5'- CAAGTGAAACAGGTTTTTCCTCTGC -3'
(R):5'- GTGGCTTGAATGACCTCTCCTTTG -3'
|
Posted On |
2020-07-30 |