Incidental Mutation 'R1130:Skint7'
| ID |
98029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint7
|
| Ensembl Gene |
ENSMUSG00000049214 |
| Gene Name |
selection and upkeep of intraepithelial T cells 7 |
| Synonyms |
C130057D23Rik |
| MMRRC Submission |
039203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1130 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
111830120-111845420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111841355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 265
(I265T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055014]
[ENSMUST00000106568]
[ENSMUST00000163281]
|
| AlphaFold |
A7XV04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055014
|
| SMART Domains |
Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
7.82e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106568
AA Change: I265T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: I265T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
7.82e-6 |
SMART |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163281
AA Change: I265T
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: I265T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
7.82e-6 |
SMART |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
transmembrane domain
|
285 |
307 |
N/A |
INTRINSIC |
|
transmembrane domain
|
327 |
349 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,943,561 (GRCm39) |
H58Y |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Armc2 |
T |
C |
10: 41,887,830 (GRCm39) |
D51G |
possibly damaging |
Het |
| Aspm |
A |
T |
1: 139,405,572 (GRCm39) |
K1486N |
possibly damaging |
Het |
| Aurka |
A |
T |
2: 172,199,178 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
C |
1: 172,373,264 (GRCm39) |
Y534H |
probably damaging |
Het |
| Cldn20 |
T |
C |
17: 3,583,243 (GRCm39) |
Y139H |
probably damaging |
Het |
| Defb19 |
C |
A |
2: 152,418,109 (GRCm39) |
E76* |
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,884,797 (GRCm39) |
D423E |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,834,865 (GRCm39) |
|
probably null |
Het |
| Gaa |
C |
T |
11: 119,165,509 (GRCm39) |
T333M |
probably damaging |
Het |
| Gm9945 |
T |
A |
11: 53,371,345 (GRCm39) |
|
probably benign |
Het |
| Gml2 |
G |
A |
15: 74,693,195 (GRCm39) |
C66Y |
probably damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,536,823 (GRCm39) |
R254* |
probably null |
Het |
| Megf10 |
T |
C |
18: 57,395,078 (GRCm39) |
V480A |
probably benign |
Het |
| Nrde2 |
A |
T |
12: 100,091,929 (GRCm39) |
M1152K |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,283,765 (GRCm39) |
V803A |
probably damaging |
Het |
| Rxylt1 |
T |
C |
10: 121,931,847 (GRCm39) |
I109V |
possibly damaging |
Het |
| Srsf2 |
A |
G |
11: 116,743,009 (GRCm39) |
|
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,565,371 (GRCm39) |
N108D |
possibly damaging |
Het |
|
| Other mutations in Skint7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Skint7
|
APN |
4 |
111,839,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01697:Skint7
|
APN |
4 |
111,837,654 (GRCm39) |
splice site |
probably benign |
|
|
IGL01961:Skint7
|
APN |
4 |
111,834,660 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02232:Skint7
|
APN |
4 |
111,839,225 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02675:Skint7
|
APN |
4 |
111,839,178 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02729:Skint7
|
APN |
4 |
111,839,367 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02887:Skint7
|
APN |
4 |
111,839,375 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Fraction
|
UTSW |
4 |
111,837,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
ratio
|
UTSW |
4 |
111,842,073 (GRCm39) |
splice site |
probably null |
|
|
R0315:Skint7
|
UTSW |
4 |
111,845,315 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0401:Skint7
|
UTSW |
4 |
111,837,559 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0545:Skint7
|
UTSW |
4 |
111,837,395 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0607:Skint7
|
UTSW |
4 |
111,834,656 (GRCm39) |
nonsense |
probably null |
|
|
R0685:Skint7
|
UTSW |
4 |
111,837,542 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1340:Skint7
|
UTSW |
4 |
111,837,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:Skint7
|
UTSW |
4 |
111,837,521 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1764:Skint7
|
UTSW |
4 |
111,839,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1804:Skint7
|
UTSW |
4 |
111,839,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Skint7
|
UTSW |
4 |
111,842,047 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2084:Skint7
|
UTSW |
4 |
111,837,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4651:Skint7
|
UTSW |
4 |
111,839,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Skint7
|
UTSW |
4 |
111,839,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Skint7
|
UTSW |
4 |
111,841,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Skint7
|
UTSW |
4 |
111,837,627 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5096:Skint7
|
UTSW |
4 |
111,839,152 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5311:Skint7
|
UTSW |
4 |
111,837,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5524:Skint7
|
UTSW |
4 |
111,837,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5777:Skint7
|
UTSW |
4 |
111,845,289 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6208:Skint7
|
UTSW |
4 |
111,842,073 (GRCm39) |
splice site |
probably null |
|
|
R6369:Skint7
|
UTSW |
4 |
111,837,490 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6752:Skint7
|
UTSW |
4 |
111,837,463 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7396:Skint7
|
UTSW |
4 |
111,845,324 (GRCm39) |
missense |
probably benign |
|
|
R7633:Skint7
|
UTSW |
4 |
111,841,337 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7840:Skint7
|
UTSW |
4 |
111,839,423 (GRCm39) |
missense |
probably benign |
|
|
R8054:Skint7
|
UTSW |
4 |
111,839,426 (GRCm39) |
missense |
probably benign |
|
|
R8253:Skint7
|
UTSW |
4 |
111,834,675 (GRCm39) |
nonsense |
probably null |
|
|
R8840:Skint7
|
UTSW |
4 |
111,845,183 (GRCm39) |
missense |
probably benign |
|
|
R8946:Skint7
|
UTSW |
4 |
111,839,198 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1176:Skint7
|
UTSW |
4 |
111,837,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Skint7
|
UTSW |
4 |
111,837,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAATCTGACACAGGGACATTGC -3'
(R):5'- TGGGGTAAAGTTGCTGTACCAGGAG -3'
Sequencing Primer
(F):5'- CAGGGACATTGCATAATGAATACCTC -3'
(R):5'- GCAGCACAAGCTGAGTCTATTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation