Incidental Mutation 'R3819:Skint3'
| ID |
274809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint3
|
| Ensembl Gene |
ENSMUSG00000070868 |
| Gene Name |
selection and upkeep of intraepithelial T cells 3 |
| Synonyms |
A430090E18Rik |
| MMRRC Submission |
040773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R3819 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
112089442-112157665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112113085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 232
(I232F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038455]
[ENSMUST00000170945]
|
| AlphaFold |
A7TZF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038455
AA Change: I232F
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: I232F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
3.51e-8 |
SMART |
|
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
|
transmembrane domain
|
291 |
313 |
N/A |
INTRINSIC |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170945
AA Change: I232F
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: I232F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
3.51e-8 |
SMART |
|
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
|
transmembrane domain
|
285 |
304 |
N/A |
INTRINSIC |
|
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
|
transmembrane domain
|
362 |
384 |
N/A |
INTRINSIC |
|
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Barx1 |
T |
C |
13: 48,818,960 (GRCm39) |
I200T |
possibly damaging |
Het |
| Coil |
T |
C |
11: 88,872,619 (GRCm39) |
F380L |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,603,222 (GRCm39) |
C417R |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,572,503 (GRCm39) |
|
probably null |
Het |
| Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
| Gbp7 |
C |
A |
3: 142,249,826 (GRCm39) |
H432Q |
possibly damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krt34 |
T |
C |
11: 99,930,844 (GRCm39) |
E186G |
probably damaging |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,237 (GRCm39) |
K321E |
probably damaging |
Het |
| Or5ac22 |
A |
G |
16: 59,135,434 (GRCm39) |
F112S |
probably damaging |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Paxbp1 |
A |
C |
16: 90,819,640 (GRCm39) |
|
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,735,758 (GRCm39) |
D366E |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,382,365 (GRCm39) |
E110D |
probably benign |
Het |
| Prdm5 |
T |
C |
6: 65,913,041 (GRCm39) |
F391L |
possibly damaging |
Het |
| Rasef |
C |
G |
4: 73,677,942 (GRCm39) |
D95H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,774,896 (GRCm39) |
I158T |
probably damaging |
Het |
| Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
| Stat3 |
C |
T |
11: 100,789,459 (GRCm39) |
S377N |
probably damaging |
Het |
| Tbpl2 |
A |
G |
2: 23,966,024 (GRCm39) |
V321A |
probably damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,729,047 (GRCm39) |
|
probably benign |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Xdh |
A |
T |
17: 74,213,720 (GRCm39) |
I811K |
probably benign |
Het |
|
| Other mutations in Skint3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Skint3
|
APN |
4 |
112,113,106 (GRCm39) |
splice site |
probably benign |
|
|
IGL01344:Skint3
|
APN |
4 |
112,147,519 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02875:Skint3
|
APN |
4 |
112,113,079 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03308:Skint3
|
APN |
4 |
112,111,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:Skint3
|
APN |
4 |
112,113,103 (GRCm39) |
splice site |
probably benign |
|
|
R0043:Skint3
|
UTSW |
4 |
112,134,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0671:Skint3
|
UTSW |
4 |
112,112,974 (GRCm39) |
nonsense |
probably null |
|
|
R0747:Skint3
|
UTSW |
4 |
112,111,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1191:Skint3
|
UTSW |
4 |
112,092,939 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R2058:Skint3
|
UTSW |
4 |
112,112,980 (GRCm39) |
nonsense |
probably null |
|
|
R3893:Skint3
|
UTSW |
4 |
112,111,115 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4166:Skint3
|
UTSW |
4 |
112,112,832 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4449:Skint3
|
UTSW |
4 |
112,127,206 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4662:Skint3
|
UTSW |
4 |
112,134,863 (GRCm39) |
nonsense |
probably null |
|
|
R4790:Skint3
|
UTSW |
4 |
112,113,095 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5374:Skint3
|
UTSW |
4 |
112,155,386 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5570:Skint3
|
UTSW |
4 |
112,092,995 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6024:Skint3
|
UTSW |
4 |
112,147,543 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6306:Skint3
|
UTSW |
4 |
112,113,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6552:Skint3
|
UTSW |
4 |
112,147,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6619:Skint3
|
UTSW |
4 |
112,111,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Skint3
|
UTSW |
4 |
112,116,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9029:Skint3
|
UTSW |
4 |
112,111,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9433:Skint3
|
UTSW |
4 |
112,137,432 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9701:Skint3
|
UTSW |
4 |
112,111,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9802:Skint3
|
UTSW |
4 |
112,111,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Skint3
|
UTSW |
4 |
112,111,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGCCTCATATGGAATGGAG -3'
(R):5'- GCTGTGACTTGGAATCTACAATG -3'
Sequencing Primer
(F):5'- GAGATAGCAATGGACAGGTCATTCC -3'
(R):5'- TCCCTGCGTGCTGAACTAGTAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation