Incidental Mutation 'R7633:Skint7'
| ID |
589749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint7
|
| Ensembl Gene |
ENSMUSG00000049214 |
| Gene Name |
selection and upkeep of intraepithelial T cells 7 |
| Synonyms |
C130057D23Rik |
| MMRRC Submission |
045721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R7633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111830120-111845420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111841337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 259
(V259E)
|
| 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: V259E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: V259E
| 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 |
probably benign
Transcript: ENSMUST00000163281
AA Change: V259E
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: V259E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Acaca |
A |
G |
11: 84,263,465 (GRCm39) |
I2029V |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,784,446 (GRCm39) |
D1138A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,829,171 (GRCm39) |
V2508E |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,948,373 (GRCm39) |
|
probably null |
Het |
| Calhm4 |
G |
A |
10: 33,919,904 (GRCm39) |
T121M |
possibly damaging |
Het |
| Cd46 |
A |
T |
1: 194,765,927 (GRCm39) |
M146K |
probably null |
Het |
| Chp1 |
A |
G |
2: 119,391,226 (GRCm39) |
I28V |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,683,699 (GRCm39) |
R216W |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,748,371 (GRCm39) |
T392M |
probably benign |
Het |
| Cracd |
A |
G |
5: 77,005,367 (GRCm39) |
E576G |
unknown |
Het |
| Dcxr |
A |
C |
11: 120,617,279 (GRCm39) |
L88R |
probably benign |
Het |
| Dedd |
C |
T |
1: 171,166,478 (GRCm39) |
P138L |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,107,263 (GRCm39) |
S35P |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,705,792 (GRCm39) |
D851G |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 60,020,693 (GRCm39) |
D521G |
probably damaging |
Het |
| Gm6882 |
A |
G |
7: 21,161,577 (GRCm39) |
V97A |
probably damaging |
Het |
| Hgs |
A |
T |
11: 120,365,128 (GRCm39) |
Q172L |
probably damaging |
Het |
| Hormad2 |
T |
C |
11: 4,296,662 (GRCm39) |
Q274R |
probably benign |
Het |
| Igkv8-19 |
C |
T |
6: 70,318,383 (GRCm39) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,161,757 (GRCm39) |
N377S |
probably benign |
Het |
| Intu |
G |
A |
3: 40,608,683 (GRCm39) |
G232S |
probably damaging |
Het |
| Lypd9 |
C |
A |
11: 58,338,304 (GRCm39) |
M29I |
probably benign |
Het |
| Mov10 |
A |
G |
3: 104,704,381 (GRCm39) |
S806P |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,331 (GRCm39) |
F194L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,596 (GRCm39) |
I160K |
probably benign |
Het |
| Nup155 |
C |
G |
15: 8,138,937 (GRCm39) |
S3W |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,237,967 (GRCm39) |
I301T |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,846,977 (GRCm39) |
F147L |
possibly damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,106,173 (GRCm39) |
D33G |
possibly damaging |
Het |
| Prdm11 |
G |
A |
2: 92,810,999 (GRCm39) |
A200V |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,347,455 (GRCm39) |
I1123K |
unknown |
Het |
| Rgs1 |
A |
G |
1: 144,124,215 (GRCm39) |
|
probably null |
Het |
| Slc25a3 |
A |
T |
10: 90,953,904 (GRCm39) |
|
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,317,161 (GRCm39) |
R7S |
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,091,481 (GRCm39) |
I73N |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
G |
A |
10: 59,962,002 (GRCm39) |
D206N |
probably damaging |
Het |
| Stard3nl |
T |
G |
13: 19,552,008 (GRCm39) |
R185S |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,434,556 (GRCm39) |
Y18H |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,736,500 (GRCm39) |
T482I |
probably damaging |
Het |
| Tcstv7b |
G |
A |
13: 120,702,376 (GRCm39) |
W57* |
probably null |
Het |
| Tmc6 |
G |
T |
11: 117,660,046 (GRCm39) |
T694K |
probably benign |
Het |
| Trim59 |
T |
A |
3: 68,945,259 (GRCm39) |
H27L |
probably damaging |
Het |
| Trpv2 |
G |
A |
11: 62,481,832 (GRCm39) |
|
probably null |
Het |
| Tyw5 |
A |
T |
1: 57,432,644 (GRCm39) |
D117E |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,510,354 (GRCm39) |
Y320H |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,448 (GRCm39) |
T195S |
probably damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,074,513 (GRCm39) |
V517M |
possibly damaging |
Het |
| Yipf1 |
A |
G |
4: 107,176,193 (GRCm39) |
N29S |
probably benign |
Het |
| Zfp954 |
A |
T |
7: 7,118,823 (GRCm39) |
F240L |
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 |
|
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 |
|
|
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'- GAATCTGACACAGGGACATTGC -3'
(R):5'- AAATGTCATGAGTCTGCTTGTG -3'
Sequencing Primer
(F):5'- TCTGACACAGGGACATTGCATAATG -3'
(R):5'- CATGAGTCTGCTTGTGACAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation