Incidental Mutation 'R8375:Skint4'
| ID |
646615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint4
|
| Ensembl Gene |
ENSMUSG00000055960 |
| Gene Name |
selection and upkeep of intraepithelial T cells 4 |
| Synonyms |
9530098N22Rik |
| MMRRC Submission |
067743-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8375 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111975173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 44
(I44M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069769]
[ENSMUST00000106564]
[ENSMUST00000106565]
[ENSMUST00000106566]
|
| AlphaFold |
A7TZF3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069769
AA Change: I36M
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: I36M
| 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: ENSMUST00000106564
AA Change: I36M
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: I36M
| 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: ENSMUST00000106565
AA Change: I36M
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: I36M
| 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: I44M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: I44M
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,265,416 (GRCm39) |
F3030L |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,347,841 (GRCm39) |
I3565F |
probably damaging |
Het |
| Ak7 |
A |
T |
12: 105,708,600 (GRCm39) |
I352F |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Anapc7 |
C |
T |
5: 122,566,342 (GRCm39) |
P84S |
probably benign |
Het |
| Apol7a |
A |
T |
15: 77,273,547 (GRCm39) |
I305N |
probably damaging |
Het |
| Asf1b |
C |
T |
8: 84,694,559 (GRCm39) |
R108C |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,421,989 (GRCm39) |
E903D |
probably benign |
Het |
| Bpifb3 |
A |
T |
2: 153,767,715 (GRCm39) |
I263F |
probably benign |
Het |
| Cavin3 |
T |
A |
7: 105,130,228 (GRCm39) |
S195C |
probably damaging |
Het |
| Chsy3 |
C |
A |
18: 59,312,585 (GRCm39) |
R353S |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,481,890 (GRCm39) |
V78A |
unknown |
Het |
| Cpxm1 |
C |
T |
2: 130,236,146 (GRCm39) |
E339K |
probably damaging |
Het |
| Cyp26c1 |
G |
T |
19: 37,675,660 (GRCm39) |
A175S |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,327,489 (GRCm39) |
T2069S |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,057,383 (GRCm39) |
F393S |
probably damaging |
Het |
| Fstl4 |
T |
C |
11: 53,053,502 (GRCm39) |
S385P |
possibly damaging |
Het |
| Gabpb2 |
G |
A |
3: 95,112,109 (GRCm39) |
S40L |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,187,172 (GRCm39) |
I155T |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,873,731 (GRCm39) |
N1668Y |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 192,117,124 (GRCm39) |
H670R |
probably damaging |
Het |
| Krt31 |
G |
A |
11: 99,938,603 (GRCm39) |
A330V |
probably benign |
Het |
| Lrfn2 |
T |
A |
17: 49,403,851 (GRCm39) |
M658K |
possibly damaging |
Het |
| Lrrc1 |
T |
A |
9: 77,365,129 (GRCm39) |
N184I |
probably damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,795,994 (GRCm39) |
I18V |
probably benign |
Het |
| Lvrn |
G |
A |
18: 46,983,289 (GRCm39) |
V11M |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,063,801 (GRCm39) |
S1199P |
possibly damaging |
Het |
| Mib1 |
T |
C |
18: 10,768,233 (GRCm39) |
|
probably null |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Myo18b |
C |
T |
5: 112,908,259 (GRCm39) |
V2005I |
possibly damaging |
Het |
| Myo6 |
T |
A |
9: 80,162,206 (GRCm39) |
H314Q |
unknown |
Het |
| Nat8f6 |
A |
C |
6: 85,785,888 (GRCm39) |
M87R |
probably benign |
Het |
| Net1 |
A |
G |
13: 3,943,458 (GRCm39) |
|
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,787,228 (GRCm39) |
T294I |
possibly damaging |
Het |
| Nrros |
A |
G |
16: 31,966,456 (GRCm39) |
L36P |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,037 (GRCm39) |
M277V |
probably benign |
Het |
| Or8c9 |
G |
C |
9: 38,241,231 (GRCm39) |
W113S |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,525,407 (GRCm39) |
H202R |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,316,538 (GRCm39) |
M284K |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,710 (GRCm39) |
Y107* |
probably null |
Het |
| Rab5c |
G |
T |
11: 100,607,609 (GRCm39) |
N188K |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,005,532 (GRCm39) |
S1259R |
probably damaging |
Het |
| Rrm2 |
T |
C |
12: 24,762,751 (GRCm39) |
V298A |
probably damaging |
Het |
| Rtn4rl2 |
A |
T |
2: 84,711,033 (GRCm39) |
L77H |
possibly damaging |
Het |
| Spaca7 |
T |
C |
8: 12,648,998 (GRCm39) |
I164T |
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,800,568 (GRCm39) |
S153G |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,123,786 (GRCm39) |
S358P |
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,732,462 (GRCm39) |
M377T |
unknown |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,599,844 (GRCm39) |
D1048G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,557,509 (GRCm39) |
W29862R |
probably damaging |
Het |
| Vmn1r203 |
T |
G |
13: 22,709,154 (GRCm39) |
*312G |
probably null |
Het |
| Vmn2r74 |
T |
G |
7: 85,601,914 (GRCm39) |
T575P |
possibly damaging |
Het |
| Zfp14 |
A |
T |
7: 29,738,579 (GRCm39) |
N135K |
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 |
|
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 |
|
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'- CACCTCCCATATGTCCTGAAG -3'
(R):5'- TCAGGAGTTCTGTCCGTTCTAC -3'
Sequencing Primer
(F):5'- AGTAGTAACATTTATGCTGCTGC -3'
(R):5'- GAGTTCTGTCCGTTCTACATACTTAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation