Incidental Mutation 'R1350:Skint7'
| ID |
159517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint7
|
| Ensembl Gene |
ENSMUSG00000049214 |
| Gene Name |
selection and upkeep of intraepithelial T cells 7 |
| Synonyms |
C130057D23Rik |
| MMRRC Submission |
039415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
111830120-111845420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 111837521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 100
(A100S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055014]
[ENSMUST00000106568]
[ENSMUST00000163281]
|
| AlphaFold |
A7XV04 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055014
AA Change: A100S
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: A100S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
7.82e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106568
AA Change: A100S
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: A100S
| 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: ENSMUST00000142162
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163281
AA Change: A100S
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: A100S
| 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: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
95% (57/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
A |
G |
4: 126,400,925 (GRCm39) |
V640A |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,778,853 (GRCm39) |
Q860* |
probably null |
Het |
| Atp10d |
A |
G |
5: 72,418,469 (GRCm39) |
|
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,205,950 (GRCm39) |
|
probably null |
Het |
| Bivm |
T |
A |
1: 44,165,863 (GRCm39) |
N104K |
possibly damaging |
Het |
| Capn15 |
A |
G |
17: 26,183,666 (GRCm39) |
S338P |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccn6 |
C |
T |
10: 39,034,302 (GRCm39) |
C100Y |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,729,848 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,682,081 (GRCm39) |
N821D |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,771,081 (GRCm39) |
I1105F |
probably damaging |
Het |
| Dnaja2 |
A |
T |
8: 86,266,717 (GRCm39) |
F337I |
probably damaging |
Het |
| Dntt |
C |
T |
19: 41,025,578 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,791,831 (GRCm39) |
E1381K |
possibly damaging |
Het |
| Fibp |
T |
C |
19: 5,511,419 (GRCm39) |
Y96H |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,942,226 (GRCm39) |
V85A |
probably damaging |
Het |
| Gsdme |
A |
T |
6: 50,223,108 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
A |
T |
6: 136,720,912 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,809,217 (GRCm39) |
V1748A |
probably benign |
Het |
| Hepacam2 |
G |
A |
6: 3,467,530 (GRCm39) |
Q384* |
probably null |
Het |
| Itga10 |
T |
A |
3: 96,564,793 (GRCm39) |
M961K |
probably benign |
Het |
| Kcnk1 |
C |
T |
8: 126,751,967 (GRCm39) |
T191I |
probably benign |
Het |
| Khdrbs1 |
G |
A |
4: 129,614,545 (GRCm39) |
P336L |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,352,484 (GRCm39) |
|
probably null |
Het |
| Lipc |
T |
C |
9: 70,705,649 (GRCm39) |
H478R |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,646 (GRCm39) |
C356* |
probably null |
Het |
| Nf1 |
T |
A |
11: 79,303,513 (GRCm39) |
C397S |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,700,396 (GRCm39) |
F439S |
probably damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,701 (GRCm39) |
V275E |
probably benign |
Het |
| Or13a18 |
T |
C |
7: 140,190,622 (GRCm39) |
V181A |
probably damaging |
Het |
| Or3a1b |
T |
C |
11: 74,013,039 (GRCm39) |
L308P |
possibly damaging |
Het |
| Or4b12 |
A |
T |
2: 90,096,690 (GRCm39) |
L28Q |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,937 (GRCm39) |
W2R |
probably benign |
Het |
| Or7g29 |
T |
G |
9: 19,286,710 (GRCm39) |
S156R |
possibly damaging |
Het |
| Or8b37 |
G |
A |
9: 37,959,111 (GRCm39) |
V198I |
probably benign |
Het |
| Pcif1 |
T |
C |
2: 164,728,687 (GRCm39) |
F288L |
probably damaging |
Het |
| Prxl2b |
C |
A |
4: 154,982,585 (GRCm39) |
R107L |
probably damaging |
Het |
| Ssu2 |
A |
T |
6: 112,351,807 (GRCm39) |
L306* |
probably null |
Het |
| Tasp1 |
T |
C |
2: 139,899,341 (GRCm39) |
E4G |
probably damaging |
Het |
| Tfb1m |
A |
T |
17: 3,595,955 (GRCm39) |
D99E |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,198 (GRCm39) |
|
probably null |
Het |
| Uox |
A |
G |
3: 146,330,330 (GRCm39) |
D162G |
probably damaging |
Het |
| Usp18 |
A |
G |
6: 121,239,651 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,886 (GRCm39) |
N177S |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,897,558 (GRCm39) |
M621K |
probably damaging |
Het |
| Wdfy3 |
C |
A |
5: 102,046,418 (GRCm39) |
D1797Y |
probably damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,060,856 (GRCm39) |
|
probably benign |
Het |
| Zbtb9 |
G |
A |
17: 27,193,380 (GRCm39) |
V262I |
probably benign |
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 |
|
R1130:Skint7
|
UTSW |
4 |
111,841,355 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1340:Skint7
|
UTSW |
4 |
111,837,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGAGAAACTGAGGGTAACTACTCCCAC -3'
(R):5'- TCCATTTATTGGGCACAAAGACACTGG -3'
Sequencing Primer
(F):5'- TACTCCCACAAGACACCTGTTAG -3'
(R):5'- GTATACTGTGCTCCACAAACAAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation