Incidental Mutation 'IGL00911:Skint3'
| ID |
27226 |
| 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: 0.051)
|
| Stock # |
IGL00911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
112089442-112157665 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 112113106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038455]
[ENSMUST00000170945]
|
| AlphaFold |
A7TZF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038455
|
| SMART Domains |
Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
| 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 |
probably benign
Transcript: ENSMUST00000170945
|
| SMART Domains |
Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
C |
5: 90,673,450 (GRCm39) |
V234A |
probably benign |
Het |
| Alas1 |
T |
A |
9: 106,113,671 (GRCm39) |
I525F |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,598,027 (GRCm39) |
|
probably benign |
Het |
| Apbb2 |
G |
A |
5: 66,608,855 (GRCm39) |
T264M |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,100,094 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,376,636 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,778,320 (GRCm39) |
P2793L |
probably damaging |
Het |
| Clstn1 |
T |
G |
4: 149,727,648 (GRCm39) |
|
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,821,354 (GRCm39) |
V13A |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,391 (GRCm39) |
|
probably null |
Het |
| Eogt |
A |
T |
6: 97,096,961 (GRCm39) |
V349E |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 131,717,095 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,663,871 (GRCm39) |
I207F |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,883 (GRCm39) |
S1937G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,130,882 (GRCm39) |
G500* |
probably null |
Het |
| Khdc1b |
A |
T |
1: 21,454,578 (GRCm39) |
K94* |
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,617,338 (GRCm39) |
Y367H |
probably damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,915,689 (GRCm39) |
N762T |
probably benign |
Het |
| Mbl2 |
T |
A |
19: 30,215,794 (GRCm39) |
D100E |
possibly damaging |
Het |
| Mthfr |
T |
G |
4: 148,125,759 (GRCm39) |
S31A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,688 (GRCm39) |
S558T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,366 (GRCm39) |
L1254P |
probably damaging |
Het |
| Or2ag12 |
A |
T |
7: 106,277,040 (GRCm39) |
Y218N |
probably damaging |
Het |
| Pabpc1l |
C |
A |
2: 163,884,343 (GRCm39) |
T360K |
probably damaging |
Het |
| Pcgf1 |
G |
A |
6: 83,057,606 (GRCm39) |
G92S |
probably damaging |
Het |
| Penk |
T |
C |
4: 4,134,347 (GRCm39) |
Y100C |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,894,169 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,187,971 (GRCm39) |
T3446S |
probably benign |
Het |
| Plcg2 |
G |
A |
8: 118,313,254 (GRCm39) |
D473N |
probably benign |
Het |
| Poll |
G |
T |
19: 45,542,040 (GRCm39) |
T422K |
probably damaging |
Het |
| Stab2 |
C |
A |
10: 86,805,617 (GRCm39) |
C243F |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,122,007 (GRCm39) |
E215G |
possibly damaging |
Het |
| Tas1r2 |
C |
A |
4: 139,387,602 (GRCm39) |
P354T |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,899,560 (GRCm39) |
Q2533* |
probably null |
Het |
| Tmem121 |
C |
T |
12: 113,151,851 (GRCm39) |
A23V |
probably damaging |
Het |
|
| Other mutations in Skint3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation