Incidental Mutation 'IGL01473:Skint7'
| ID |
88335 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Skint7
|
| Ensembl Gene |
ENSMUSG00000049214 |
| Gene Name |
selection and upkeep of intraepithelial T cells 7 |
| Synonyms |
C130057D23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111830120-111845420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111839402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 232
(I232T)
|
| 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: I232T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: I232T
| 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: I232T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: I232T
| 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: I232T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: I232T
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
T |
C |
16: 29,135,542 (GRCm39) |
Y350C |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Clcn1 |
C |
A |
6: 42,268,637 (GRCm39) |
A181D |
probably damaging |
Het |
| Cylc1 |
G |
T |
X: 110,166,449 (GRCm39) |
K243N |
unknown |
Het |
| Dsp |
A |
G |
13: 38,351,547 (GRCm39) |
Y122C |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,251,751 (GRCm39) |
V665A |
possibly damaging |
Het |
| Fcho1 |
G |
A |
8: 72,164,782 (GRCm39) |
P500S |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,327 (GRCm39) |
E785G |
unknown |
Het |
| Fpr1 |
A |
G |
17: 18,097,954 (GRCm39) |
S12P |
possibly damaging |
Het |
| Hydin |
G |
T |
8: 111,081,585 (GRCm39) |
G327V |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,038,792 (GRCm39) |
M177L |
probably benign |
Het |
| Itga10 |
G |
A |
3: 96,554,957 (GRCm39) |
G97E |
probably damaging |
Het |
| Khdc1c |
T |
A |
1: 21,439,130 (GRCm39) |
Y39N |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 40,501,498 (GRCm39) |
T202P |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,280,431 (GRCm39) |
K618R |
probably damaging |
Het |
| Mdc1 |
C |
A |
17: 36,158,912 (GRCm39) |
L431I |
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,683,472 (GRCm39) |
D536G |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,192,651 (GRCm39) |
|
probably null |
Het |
| Odad3 |
C |
A |
9: 21,906,675 (GRCm39) |
|
probably null |
Het |
| Pop4 |
A |
G |
7: 37,963,820 (GRCm39) |
V154A |
probably benign |
Het |
| Ppp1r13l |
C |
T |
7: 19,109,193 (GRCm39) |
R608C |
probably damaging |
Het |
| Prss36 |
T |
C |
7: 127,543,873 (GRCm39) |
H166R |
probably damaging |
Het |
| Rab11fip3 |
C |
T |
17: 26,287,709 (GRCm39) |
R148Q |
possibly damaging |
Het |
| Rbm39 |
T |
A |
2: 156,014,899 (GRCm39) |
R49* |
probably null |
Het |
| S100a11 |
T |
C |
3: 93,433,413 (GRCm39) |
C86R |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,696,745 (GRCm39) |
T1210I |
probably benign |
Het |
| Speg |
C |
T |
1: 75,404,929 (GRCm39) |
T2907I |
possibly damaging |
Het |
| Spz1 |
A |
T |
13: 92,711,764 (GRCm39) |
C237* |
probably null |
Het |
| Sun3 |
G |
T |
11: 8,979,394 (GRCm39) |
D42E |
probably benign |
Het |
| Tgds |
C |
T |
14: 118,365,626 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,904,675 (GRCm39) |
D1270N |
probably damaging |
Het |
| Vmn2r78 |
A |
C |
7: 86,569,520 (GRCm39) |
T138P |
possibly damaging |
Het |
| Wdfy1 |
T |
C |
1: 79,685,182 (GRCm39) |
I351V |
probably benign |
Het |
|
| Other mutations in Skint7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation