Incidental Mutation 'R2084:Skint7'
ID |
230187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint7
|
Ensembl Gene |
ENSMUSG00000049214 |
Gene Name |
selection and upkeep of intraepithelial T cells 7 |
Synonyms |
C130057D23Rik |
MMRRC Submission |
040089-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R2084 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111830120-111845420 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111837375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 51
(V51E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127347
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055014]
[ENSMUST00000106568]
[ENSMUST00000163281]
|
AlphaFold |
A7XV04 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055014
AA Change: V51E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000054822 Gene: ENSMUSG00000049214 AA Change: V51E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
34 |
141 |
7.82e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106568
AA Change: V51E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102178 Gene: ENSMUSG00000049214 AA Change: V51E
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 |
probably damaging
Transcript: ENSMUST00000163281
AA Change: V51E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127347 Gene: ENSMUSG00000049214 AA Change: V51E
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
C |
T |
11: 5,612,378 (GRCm39) |
Q1237* |
probably null |
Het |
Aph1c |
T |
G |
9: 66,726,579 (GRCm39) |
R258S |
probably damaging |
Het |
Arfgap3 |
T |
A |
15: 83,218,767 (GRCm39) |
N102I |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,299,978 (GRCm39) |
V106A |
probably damaging |
Het |
BC005537 |
G |
T |
13: 24,996,698 (GRCm39) |
|
probably null |
Het |
Card10 |
G |
A |
15: 78,677,171 (GRCm39) |
T412M |
possibly damaging |
Het |
Cars1 |
T |
C |
7: 143,140,919 (GRCm39) |
I126M |
probably benign |
Het |
Cfap20dc |
T |
C |
14: 8,558,171 (GRCm38) |
D138G |
probably damaging |
Het |
Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
Cpped1 |
T |
C |
16: 11,646,365 (GRCm39) |
D153G |
probably damaging |
Het |
Cyp2j11 |
T |
A |
4: 96,227,438 (GRCm39) |
I193F |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,411,667 (GRCm39) |
|
probably null |
Het |
Efemp1 |
A |
G |
11: 28,865,763 (GRCm39) |
D288G |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,205,286 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
G |
A |
7: 27,856,960 (GRCm39) |
V2103M |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,351,537 (GRCm39) |
F262L |
probably benign |
Het |
Gh |
G |
A |
11: 106,191,958 (GRCm39) |
P84L |
probably damaging |
Het |
Gm10267 |
T |
C |
18: 44,290,397 (GRCm39) |
R37G |
probably benign |
Het |
Hmgxb3 |
C |
T |
18: 61,288,095 (GRCm39) |
|
probably benign |
Het |
Ifit2 |
T |
C |
19: 34,550,750 (GRCm39) |
W97R |
probably damaging |
Het |
Ift81 |
T |
G |
5: 122,705,410 (GRCm39) |
K491Q |
probably benign |
Het |
Ints8 |
A |
G |
4: 11,230,377 (GRCm39) |
V488A |
probably benign |
Het |
Krba1 |
T |
A |
6: 48,391,502 (GRCm39) |
L797Q |
probably damaging |
Het |
Krr1 |
T |
C |
10: 111,812,690 (GRCm39) |
V100A |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,535,158 (GRCm39) |
|
probably benign |
Het |
Nos1 |
C |
A |
5: 118,081,310 (GRCm39) |
Q1205K |
probably damaging |
Het |
Nup85 |
A |
T |
11: 115,459,517 (GRCm39) |
D125V |
possibly damaging |
Het |
Or5ak23 |
T |
C |
2: 85,244,959 (GRCm39) |
E88G |
probably benign |
Het |
Pclo |
T |
G |
5: 14,732,162 (GRCm39) |
S3555A |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,131,256 (GRCm39) |
I473V |
probably benign |
Het |
Polr1a |
A |
G |
6: 71,927,793 (GRCm39) |
E848G |
possibly damaging |
Het |
Pop1 |
T |
C |
15: 34,508,744 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,425,920 (GRCm39) |
T8S |
probably damaging |
Het |
Prpf3 |
C |
T |
3: 95,756,301 (GRCm39) |
E117K |
probably benign |
Het |
Psmg3 |
C |
T |
5: 139,809,744 (GRCm39) |
V101M |
probably benign |
Het |
Rexo1 |
G |
A |
10: 80,397,100 (GRCm39) |
S52L |
probably benign |
Het |
Ryk |
C |
T |
9: 102,752,971 (GRCm39) |
T210M |
probably damaging |
Het |
Sde2 |
A |
G |
1: 180,690,198 (GRCm39) |
E306G |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,741,347 (GRCm39) |
Q658R |
probably benign |
Het |
Sgsm1 |
G |
A |
5: 113,433,266 (GRCm39) |
T183I |
probably damaging |
Het |
Slc6a5 |
T |
A |
7: 49,598,002 (GRCm39) |
M622K |
probably benign |
Het |
Slco1a5 |
T |
C |
6: 142,180,437 (GRCm39) |
H655R |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,505,578 (GRCm39) |
Y452* |
probably null |
Het |
Spn |
T |
C |
7: 126,736,210 (GRCm39) |
E99G |
probably benign |
Het |
Ssc5d |
A |
G |
7: 4,940,011 (GRCm39) |
I789V |
probably benign |
Het |
Taok2 |
G |
A |
7: 126,469,363 (GRCm39) |
T1155I |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,193,528 (GRCm39) |
Q302R |
possibly damaging |
Het |
Trmt1l |
A |
G |
1: 151,316,605 (GRCm39) |
T189A |
probably damaging |
Het |
Tubal3 |
T |
C |
13: 3,978,192 (GRCm39) |
I36T |
possibly damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,267,945 (GRCm39) |
Y133F |
probably benign |
Het |
Vps11 |
G |
T |
9: 44,264,558 (GRCm39) |
H673N |
probably benign |
Het |
Zc3h12a |
C |
T |
4: 125,013,802 (GRCm39) |
S354N |
probably benign |
Het |
Zfp2 |
A |
G |
11: 50,791,789 (GRCm39) |
S85P |
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 |
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 |
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'- ACTGGGAATATAGTCAGAGCTGAAC -3'
(R):5'- ATTATGAATTCGGAGGGACACTTTG -3'
Sequencing Primer
(F):5'- GCTGAACATTTGGATCAGCTAG -3'
(R):5'- GGGACACTTTGCCTTCTCCAATG -3'
|
Posted On |
2014-09-18 |