Incidental Mutation 'R4587:Skint4'
| ID |
344158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint4
|
| Ensembl Gene |
ENSMUSG00000055960 |
| Gene Name |
selection and upkeep of intraepithelial T cells 4 |
| Synonyms |
9530098N22Rik |
| MMRRC Submission |
042006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111944221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 11
(C11Y)
|
| 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: C11Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: C11Y
| 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: C11Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: C11Y
| 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: C11Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: C11Y
| 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: C19Y
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: C19Y
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
C |
17: 35,320,063 (GRCm39) |
|
probably null |
Het |
| Adsl |
T |
C |
15: 80,851,968 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
T |
C |
9: 32,172,241 (GRCm39) |
S1674P |
probably benign |
Het |
| Cd244a |
T |
G |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
| Ceacam23 |
C |
T |
7: 17,620,149 (GRCm39) |
L18F |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,751,932 (GRCm39) |
Y401H |
probably damaging |
Het |
| Chd9 |
G |
T |
8: 91,763,134 (GRCm39) |
V2320F |
possibly damaging |
Het |
| Chrd |
A |
G |
16: 20,557,325 (GRCm39) |
E670G |
possibly damaging |
Het |
| Ckap2 |
A |
G |
8: 22,666,992 (GRCm39) |
S290P |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,751,680 (GRCm39) |
|
probably null |
Het |
| Col15a1 |
C |
T |
4: 47,257,184 (GRCm39) |
T325M |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,230,636 (GRCm39) |
I971T |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,304,745 (GRCm39) |
F1652S |
probably damaging |
Het |
| Dok6 |
T |
C |
18: 89,319,320 (GRCm39) |
Q312R |
probably benign |
Het |
| Glis1 |
C |
A |
4: 107,484,740 (GRCm39) |
H600N |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,704 (GRCm39) |
D648G |
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,632,052 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
A |
G |
7: 45,443,504 (GRCm39) |
D729G |
possibly damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
| Nf1 |
T |
A |
11: 79,426,863 (GRCm39) |
|
probably null |
Het |
| Nom1 |
T |
C |
5: 29,656,163 (GRCm39) |
S843P |
possibly damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,045 (GRCm39) |
I302T |
probably benign |
Het |
| Pex14 |
A |
G |
4: 149,048,021 (GRCm39) |
|
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,091,531 (GRCm39) |
T523A |
possibly damaging |
Het |
| Rasip1 |
T |
C |
7: 45,282,159 (GRCm39) |
V554A |
possibly damaging |
Het |
| Ric3 |
A |
T |
7: 108,653,570 (GRCm39) |
|
probably null |
Het |
| Smr2 |
G |
A |
5: 88,256,631 (GRCm39) |
R103H |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,034,020 (GRCm39) |
Y102C |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,926,473 (GRCm39) |
F356I |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,496,097 (GRCm39) |
V1044A |
possibly damaging |
Het |
| Tecpr1 |
C |
G |
5: 144,149,408 (GRCm39) |
V340L |
probably damaging |
Het |
| Tle3 |
A |
G |
9: 61,281,295 (GRCm39) |
I22V |
probably damaging |
Het |
| Trim30a |
G |
A |
7: 104,084,851 (GRCm39) |
R120* |
probably null |
Het |
| Trim72 |
A |
G |
7: 127,607,164 (GRCm39) |
D231G |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,695,648 (GRCm39) |
N255Y |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Wnt7a |
A |
T |
6: 91,343,324 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
C |
T |
17: 21,685,178 (GRCm39) |
Q598* |
probably null |
Het |
| Zfp617 |
A |
T |
8: 72,683,003 (GRCm39) |
N51I |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,229,614 (GRCm39) |
C304S |
probably damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
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 |
|
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 |
|
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'- TGCCAGATTTAGCAAATAAACATGT -3'
(R):5'- GACTCTCTTAATTTCATTCGTACAGTC -3'
Sequencing Primer
(F):5'- GGACTTGCAAACTTTATATGCCCCAG -3'
(R):5'- TCGTACAGTCAAACTTTAGCAAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation