Incidental Mutation 'R6369:Skint7'
| ID |
512838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint7
|
| Ensembl Gene |
ENSMUSG00000049214 |
| Gene Name |
selection and upkeep of intraepithelial T cells 7 |
| Synonyms |
C130057D23Rik |
| MMRRC Submission |
044519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
111830120-111845420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111837490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 89
(E89D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055014]
[ENSMUST00000106568]
[ENSMUST00000163281]
|
| AlphaFold |
A7XV04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055014
AA Change: E89D
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: E89D
| 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: E89D
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: E89D
| 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 benign
Transcript: ENSMUST00000163281
AA Change: E89D
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: E89D
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,055,605 (GRCm39) |
R571* |
probably null |
Het |
| Asb18 |
A |
T |
1: 89,942,193 (GRCm39) |
I36N |
probably damaging |
Het |
| Ascc3 |
G |
A |
10: 50,576,081 (GRCm39) |
G779S |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,161,984 (GRCm39) |
Q205R |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,220,315 (GRCm39) |
I235T |
probably damaging |
Het |
| Bri3bp |
A |
G |
5: 125,531,765 (GRCm39) |
N237S |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,735,848 (GRCm39) |
N256S |
probably benign |
Het |
| Cchcr1 |
T |
C |
17: 35,839,073 (GRCm39) |
I474T |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 3,994,984 (GRCm39) |
Y60C |
probably damaging |
Het |
| Cd300c |
C |
A |
11: 114,848,381 (GRCm39) |
D171Y |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,165,200 (GRCm39) |
V975M |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,585,020 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 76,957,678 (GRCm39) |
S524P |
possibly damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Ero1a |
T |
C |
14: 45,537,415 (GRCm39) |
I170M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,212 (GRCm39) |
M344T |
unknown |
Het |
| Frem1 |
A |
T |
4: 82,832,029 (GRCm39) |
|
probably null |
Het |
| Gjb5 |
G |
T |
4: 127,249,723 (GRCm39) |
D140E |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Hk2 |
G |
T |
6: 82,713,734 (GRCm39) |
S449R |
probably damaging |
Het |
| Hs3st3a1 |
A |
T |
11: 64,411,427 (GRCm39) |
I322F |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,102,196 (GRCm39) |
I1145V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,484,693 (GRCm39) |
L1295S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,355 (GRCm39) |
D49G |
possibly damaging |
Het |
| Mef2b |
T |
A |
8: 70,618,209 (GRCm39) |
D96E |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,394,259 (GRCm39) |
D461V |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,408,071 (GRCm39) |
S1104P |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,529,381 (GRCm39) |
L172P |
probably damaging |
Het |
| Or2g1 |
T |
G |
17: 38,106,387 (GRCm39) |
D17E |
probably benign |
Het |
| Pate1 |
A |
G |
9: 35,598,324 (GRCm39) |
V18A |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,048,045 (GRCm39) |
|
probably null |
Het |
| Pnpla1 |
T |
A |
17: 29,097,455 (GRCm39) |
I207N |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,280 (GRCm39) |
E341G |
possibly damaging |
Het |
| Ppp1r21 |
C |
A |
17: 88,889,840 (GRCm39) |
|
probably null |
Het |
| Rad52 |
A |
G |
6: 119,891,168 (GRCm39) |
E76G |
unknown |
Het |
| Rad54l |
A |
G |
4: 115,968,386 (GRCm39) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,267,954 (GRCm39) |
M17V |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,340,738 (GRCm39) |
M411T |
unknown |
Het |
| Reln |
A |
G |
5: 22,256,359 (GRCm39) |
I495T |
probably benign |
Het |
| Rnf224 |
A |
G |
2: 25,125,954 (GRCm39) |
F133S |
probably damaging |
Het |
| Rrm1 |
C |
A |
7: 102,095,909 (GRCm39) |
H87Q |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,053,962 (GRCm39) |
D235G |
possibly damaging |
Het |
| Serpinb3d |
G |
T |
1: 107,008,483 (GRCm39) |
N127K |
probably benign |
Het |
| Slc22a5 |
T |
G |
11: 53,782,196 (GRCm39) |
N57T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,799,982 (GRCm39) |
F263I |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,001,676 (GRCm39) |
I66V |
probably damaging |
Het |
| Syngr1 |
A |
C |
15: 79,999,791 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,614,420 (GRCm39) |
Y554H |
probably benign |
Het |
| Tmem198 |
T |
C |
1: 75,456,387 (GRCm39) |
V44A |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,965,320 (GRCm39) |
|
probably null |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vmn2r111 |
C |
T |
17: 22,767,583 (GRCm39) |
C638Y |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,410,308 (GRCm39) |
Y632C |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,907,831 (GRCm39) |
V270A |
probably benign |
Het |
| Zfp92 |
G |
A |
X: 72,465,574 (GRCm39) |
R189H |
possibly damaging |
Homo |
|
| 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 |
|
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 |
|
|
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'- GAGAAACTGAGGGTAACTACTCC -3'
(R):5'- CCATTTATTGGGCACAAAGACAC -3'
Sequencing Primer
(F):5'- TGAGGGTAACTACTCCCACAAG -3'
(R):5'- TGGTATACTGTGCTCCACAAAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation