Incidental Mutation 'R9361:Skint4'
ID |
708676 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint4
|
Ensembl Gene |
ENSMUSG00000055960 |
Gene Name |
selection and upkeep of intraepithelial T cells 4 |
Synonyms |
9530098N22Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R9361 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112001021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 372
(L372S)
|
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: L364S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000070676 Gene: ENSMUSG00000055960 AA Change: L364S
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: L364S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102174 Gene: ENSMUSG00000055960 AA Change: L364S
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: L364S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102175 Gene: ENSMUSG00000055960 AA Change: L364S
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: L372S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102176 Gene: ENSMUSG00000055960 AA Change: L372S
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: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1190005I06Rik |
C |
T |
8: 121,361,060 (GRCm39) |
A12T |
unknown |
Het |
Aasdh |
T |
A |
5: 77,030,225 (GRCm39) |
T792S |
probably benign |
Het |
Actl11 |
T |
A |
9: 107,805,824 (GRCm39) |
L49Q |
probably damaging |
Het |
Adcy3 |
G |
T |
12: 4,259,366 (GRCm39) |
R881L |
possibly damaging |
Het |
Alox15 |
T |
G |
11: 70,241,679 (GRCm39) |
K67N |
probably damaging |
Het |
Amotl1 |
C |
T |
9: 14,504,677 (GRCm39) |
R177Q |
probably benign |
Het |
Ankrd34c |
T |
A |
9: 89,612,183 (GRCm39) |
I53F |
probably damaging |
Het |
Atp8b5 |
T |
A |
4: 43,369,658 (GRCm39) |
F932Y |
possibly damaging |
Het |
Bckdk |
A |
G |
7: 127,506,515 (GRCm39) |
M281V |
probably benign |
Het |
Ccdc33 |
C |
T |
9: 58,024,908 (GRCm39) |
C106Y |
possibly damaging |
Het |
Celsr3 |
T |
A |
9: 108,726,521 (GRCm39) |
I3250N |
probably damaging |
Het |
Ces1g |
A |
T |
8: 94,061,646 (GRCm39) |
|
probably null |
Het |
Ces2b |
G |
A |
8: 105,564,039 (GRCm39) |
|
probably null |
Het |
Clspn |
A |
T |
4: 126,479,654 (GRCm39) |
D1033V |
probably damaging |
Het |
Cntln |
G |
T |
4: 84,968,151 (GRCm39) |
R790I |
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,803,877 (GRCm39) |
V1656A |
probably damaging |
Het |
Dennd2b |
A |
G |
7: 109,126,991 (GRCm39) |
S907P |
probably damaging |
Het |
Dlgap1 |
A |
T |
17: 71,068,259 (GRCm39) |
D610V |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,896,524 (GRCm39) |
T4291I |
probably benign |
Het |
Eya4 |
C |
A |
10: 22,985,766 (GRCm39) |
G579W |
probably damaging |
Het |
Fam83b |
T |
C |
9: 76,400,076 (GRCm39) |
I342M |
probably benign |
Het |
Fhdc1 |
A |
C |
3: 84,356,140 (GRCm39) |
C435G |
probably damaging |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Fras1 |
T |
G |
5: 96,924,557 (GRCm39) |
L3666R |
probably damaging |
Het |
Gm21560 |
T |
A |
14: 6,218,262 (GRCm38) |
H72L |
possibly damaging |
Het |
Gtsf2 |
C |
T |
15: 103,348,066 (GRCm39) |
W148* |
probably null |
Het |
Gucy2c |
T |
C |
6: 136,714,429 (GRCm39) |
K466E |
possibly damaging |
Het |
Higd2a |
T |
A |
13: 54,738,120 (GRCm39) |
D14E |
probably benign |
Het |
Hlcs |
C |
T |
16: 93,939,799 (GRCm39) |
V513M |
probably benign |
Het |
Ido1 |
T |
C |
8: 25,079,601 (GRCm39) |
T148A |
probably benign |
Het |
Ighv1-5 |
T |
A |
12: 114,476,985 (GRCm39) |
T106S |
probably damaging |
Het |
Igkv4-92 |
T |
C |
6: 68,732,090 (GRCm39) |
T95A |
possibly damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Larp4b |
T |
G |
13: 9,199,937 (GRCm39) |
F278V |
probably damaging |
Het |
Lrch4 |
G |
A |
5: 137,635,076 (GRCm39) |
R225H |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,845,252 (GRCm39) |
Y378H |
probably benign |
Het |
Nme9 |
T |
A |
9: 99,341,775 (GRCm39) |
C42S |
probably damaging |
Het |
Or2y10 |
A |
G |
11: 49,455,303 (GRCm39) |
K185R |
probably damaging |
Het |
Pdlim2 |
T |
G |
14: 70,402,190 (GRCm39) |
T309P |
probably damaging |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Prodh |
C |
T |
16: 17,898,834 (GRCm39) |
C207Y |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,213,229 (GRCm39) |
L168Q |
probably damaging |
Het |
Resf1 |
T |
G |
6: 149,228,132 (GRCm39) |
S393A |
possibly damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Shkbp1 |
T |
C |
7: 27,051,492 (GRCm39) |
Q189R |
probably benign |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Specc1 |
A |
T |
11: 62,037,144 (GRCm39) |
E699D |
probably benign |
Het |
Speer1m |
C |
T |
5: 11,970,646 (GRCm39) |
T105M |
|
Het |
Syt6 |
C |
A |
3: 103,482,679 (GRCm39) |
|
probably benign |
Het |
Tent5b |
G |
T |
4: 133,213,461 (GRCm39) |
A111S |
probably damaging |
Het |
Tg |
A |
G |
15: 66,557,246 (GRCm39) |
E969G |
possibly damaging |
Het |
Tie1 |
A |
C |
4: 118,336,829 (GRCm39) |
H632Q |
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,796,417 (GRCm39) |
W372R |
probably damaging |
Het |
Trav7d-4 |
T |
C |
14: 53,007,606 (GRCm39) |
V33A |
probably damaging |
Het |
Ugdh |
A |
T |
5: 65,575,886 (GRCm39) |
N324K |
probably damaging |
Het |
Vmn2r79 |
G |
T |
7: 86,652,822 (GRCm39) |
|
probably null |
Het |
Washc2 |
T |
C |
6: 116,239,433 (GRCm39) |
*1335Q |
probably null |
Het |
Yme1l1 |
C |
T |
2: 23,081,063 (GRCm39) |
T445I |
possibly damaging |
Het |
Zdhhc11 |
T |
C |
13: 74,122,737 (GRCm39) |
C158R |
probably damaging |
Het |
Zfp128 |
T |
C |
7: 12,624,364 (GRCm39) |
L244P |
probably damaging |
Het |
Zfp445 |
T |
A |
9: 122,690,887 (GRCm39) |
I103F |
probably damaging |
Het |
Zfp980 |
A |
T |
4: 145,427,999 (GRCm39) |
T243S |
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 |
|
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 |
R9516:Skint4
|
UTSW |
4 |
112,015,236 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTAAACTTTTCCTGTTGGCTG -3'
(R):5'- ATCTGCACCTGAGAGGGTTG -3'
Sequencing Primer
(F):5'- CCTGTTGGCTGCAACTTTTG -3'
(R):5'- ACTCTTACCAGTGAAAGCTCTAG -3'
|
Posted On |
2022-04-18 |