Incidental Mutation 'IGL02875:Skint3'
| ID |
406186 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Skint3
|
| Ensembl Gene |
ENSMUSG00000070868 |
| Gene Name |
selection and upkeep of intraepithelial T cells 3 |
| Synonyms |
A430090E18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02875
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
112089442-112157665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112113079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 230
(I230L)
|
| 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: I230L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: I230L
| 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: I230L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: I230L
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,293 (GRCm39) |
I397V |
possibly damaging |
Het |
| Asph |
A |
G |
4: 9,595,380 (GRCm39) |
S281P |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,554,196 (GRCm39) |
V150A |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,896,713 (GRCm39) |
V1053A |
probably damaging |
Het |
| Btg4 |
T |
A |
9: 51,030,446 (GRCm39) |
F182Y |
probably benign |
Het |
| Casc3 |
T |
G |
11: 98,712,378 (GRCm39) |
V139G |
probably damaging |
Het |
| Ccno |
C |
A |
13: 113,124,586 (GRCm39) |
P52Q |
possibly damaging |
Het |
| Cdk1 |
T |
G |
10: 69,178,366 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
A |
C |
17: 49,771,056 (GRCm39) |
I887S |
probably damaging |
Het |
| Dmrta1 |
A |
G |
4: 89,579,985 (GRCm39) |
D315G |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,115,698 (GRCm39) |
I1515V |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,864,231 (GRCm39) |
I1241K |
probably benign |
Het |
| Fam180a |
T |
C |
6: 35,290,617 (GRCm39) |
D122G |
probably damaging |
Het |
| Gm11992 |
C |
T |
11: 9,002,887 (GRCm39) |
|
probably benign |
Het |
| Il1b |
A |
G |
2: 129,209,171 (GRCm39) |
I153T |
probably benign |
Het |
| Kntc1 |
C |
A |
5: 123,916,340 (GRCm39) |
|
probably null |
Het |
| Krt77 |
T |
C |
15: 101,777,584 (GRCm39) |
D157G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,497,186 (GRCm39) |
S72P |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,421,800 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
C |
T |
1: 59,175,993 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
T |
A |
16: 31,772,971 (GRCm39) |
L36Q |
probably damaging |
Het |
| Or2b7 |
T |
A |
13: 21,740,172 (GRCm39) |
S7C |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,405,896 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or8b3 |
A |
G |
9: 38,314,472 (GRCm39) |
M101V |
probably damaging |
Het |
| Oscp1 |
A |
G |
4: 125,970,601 (GRCm39) |
D130G |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,636,404 (GRCm39) |
M615K |
possibly damaging |
Het |
| Prep |
C |
A |
10: 45,034,529 (GRCm39) |
H680Q |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,493,365 (GRCm39) |
I264T |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,293 (GRCm39) |
V393A |
possibly damaging |
Het |
| Slc9b1 |
T |
A |
3: 135,080,167 (GRCm39) |
|
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,104,253 (GRCm39) |
Y375H |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,264 (GRCm39) |
I257N |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,082,821 (GRCm39) |
|
probably benign |
Het |
| Tcl1b2 |
T |
C |
12: 105,120,358 (GRCm39) |
*118Q |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,879,130 (GRCm39) |
Y989C |
probably damaging |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,852 (GRCm39) |
T256A |
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 |
|
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 |
|
|
R3819:Skint3
|
UTSW |
4 |
112,113,085 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation