Incidental Mutation 'R6619:Skint3'
ID |
524263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint3
|
Ensembl Gene |
ENSMUSG00000070868 |
Gene Name |
selection and upkeep of intraepithelial T cells 3 |
Synonyms |
A430090E18Rik |
MMRRC Submission |
044742-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R6619 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
112089442-112157665 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112111061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 62
(I62T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131300
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038455]
[ENSMUST00000170945]
|
AlphaFold |
A7TZF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038455
AA Change: I62T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042662 Gene: ENSMUSG00000070868 AA Change: I62T
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 damaging
Transcript: ENSMUST00000170945
AA Change: I62T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131300 Gene: ENSMUSG00000070868 AA Change: I62T
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a5 |
G |
A |
16: 29,167,833 (GRCm39) |
P109S |
probably benign |
Het |
Baiap2l1 |
T |
C |
5: 144,222,916 (GRCm39) |
K106R |
probably benign |
Het |
Coro6 |
A |
G |
11: 77,357,030 (GRCm39) |
I111V |
possibly damaging |
Het |
Crocc2 |
A |
G |
1: 93,118,223 (GRCm39) |
E382G |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,668,724 (GRCm39) |
N44K |
possibly damaging |
Het |
Dnah5 |
C |
A |
15: 28,409,266 (GRCm39) |
N3561K |
probably benign |
Het |
Dsc2 |
T |
A |
18: 20,165,335 (GRCm39) |
E879D |
probably benign |
Het |
Frk |
A |
G |
10: 34,481,835 (GRCm39) |
Y375C |
probably benign |
Het |
Herc2 |
A |
T |
7: 55,717,840 (GRCm39) |
R61* |
probably null |
Het |
Jarid2 |
A |
G |
13: 45,027,872 (GRCm39) |
D146G |
probably damaging |
Het |
Lancl2 |
C |
A |
6: 57,699,566 (GRCm39) |
T127K |
probably damaging |
Het |
Large1 |
G |
A |
8: 73,609,892 (GRCm39) |
Q359* |
probably null |
Het |
Mast2 |
C |
A |
4: 116,173,694 (GRCm39) |
E521* |
probably null |
Het |
Mrc1 |
T |
A |
2: 14,299,597 (GRCm39) |
|
probably null |
Het |
Obi1 |
T |
C |
14: 104,759,993 (GRCm39) |
H19R |
possibly damaging |
Het |
Or4z4 |
A |
G |
19: 12,076,727 (GRCm39) |
I92T |
probably damaging |
Het |
Or5ak23 |
T |
C |
2: 85,244,425 (GRCm39) |
N266S |
probably benign |
Het |
Or6c38 |
A |
T |
10: 128,929,323 (GRCm39) |
D173E |
possibly damaging |
Het |
Or8k38 |
T |
C |
2: 86,488,406 (GRCm39) |
Y132C |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,023,154 (GRCm39) |
Y102C |
probably damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,842,702 (GRCm39) |
D807E |
probably benign |
Het |
Pcdhgb4 |
T |
A |
18: 37,854,737 (GRCm39) |
N377K |
probably damaging |
Het |
Phf13 |
T |
A |
4: 152,076,114 (GRCm39) |
N263Y |
probably damaging |
Het |
Rab19 |
T |
A |
6: 39,365,060 (GRCm39) |
S107T |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,165,027 (GRCm39) |
F380I |
probably damaging |
Het |
Reep1 |
T |
C |
6: 71,784,826 (GRCm39) |
|
probably benign |
Het |
Rpgrip1l |
C |
T |
8: 91,959,499 (GRCm39) |
E1134K |
possibly damaging |
Het |
Serpina3m |
A |
T |
12: 104,357,766 (GRCm39) |
Y230F |
probably benign |
Het |
Smg6 |
T |
C |
11: 74,823,279 (GRCm39) |
|
probably null |
Het |
Sp4 |
G |
A |
12: 118,263,077 (GRCm39) |
T323I |
possibly damaging |
Het |
Strc |
A |
G |
2: 121,198,913 (GRCm39) |
I1378T |
probably damaging |
Het |
Tepsin |
C |
T |
11: 119,986,428 (GRCm39) |
G128D |
probably benign |
Het |
Togaram2 |
A |
G |
17: 71,996,266 (GRCm39) |
N89D |
probably damaging |
Het |
Trim36 |
T |
C |
18: 46,321,475 (GRCm39) |
T191A |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,077,980 (GRCm39) |
|
probably null |
Het |
Zfp418 |
G |
A |
7: 7,184,895 (GRCm39) |
C286Y |
probably damaging |
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 |
|
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 |
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'- GCCACTTAGCCATTTGTTGGG -3'
(R):5'- ACCAGTGACCTTGACCTCTG -3'
Sequencing Primer
(F):5'- GGACACTTTATGCTTCTGTATCAG -3'
(R):5'- CAGTGACCTTGACCTCTGTGATATG -3'
|
Posted On |
2018-06-22 |