Incidental Mutation 'R1191:Skint3'
| ID |
100787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint3
|
| Ensembl Gene |
ENSMUSG00000070868 |
| Gene Name |
selection and upkeep of intraepithelial T cells 3 |
| Synonyms |
A430090E18Rik |
| MMRRC Submission |
039263-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1191 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
112089442-112157665 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 112092939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038455]
[ENSMUST00000170945]
|
| AlphaFold |
A7TZF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038455
AA Change: M1K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: M1K
| 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 null
Transcript: ENSMUST00000170945
AA Change: M1K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: M1K
| 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 |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.1%
- 20x: 87.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd27 |
T |
C |
7: 35,301,912 (GRCm39) |
F144L |
probably damaging |
Het |
| C8b |
C |
T |
4: 104,650,520 (GRCm39) |
P377S |
probably damaging |
Het |
| Cfi |
C |
A |
3: 129,662,176 (GRCm39) |
T385N |
probably benign |
Het |
| Col15a1 |
G |
T |
4: 47,254,083 (GRCm39) |
G300* |
probably null |
Het |
| Crlf1 |
G |
A |
8: 70,951,478 (GRCm39) |
C119Y |
probably damaging |
Het |
| Dcaf4 |
A |
T |
12: 83,582,741 (GRCm39) |
S279C |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,304,664 (GRCm39) |
H70Q |
probably damaging |
Het |
| Gpt2 |
A |
T |
8: 86,235,901 (GRCm39) |
N179I |
probably damaging |
Het |
| Grik5 |
G |
A |
7: 24,757,750 (GRCm39) |
Q410* |
probably null |
Het |
| Hspa2 |
C |
T |
12: 76,452,655 (GRCm39) |
R450W |
probably damaging |
Het |
| Idh3b |
A |
T |
2: 130,123,810 (GRCm39) |
M118K |
probably benign |
Het |
| Ighv5-21 |
T |
C |
12: 114,286,423 (GRCm39) |
|
probably benign |
Het |
| Il12rb2 |
C |
T |
6: 67,275,200 (GRCm39) |
V642M |
possibly damaging |
Het |
| Iqcg |
A |
G |
16: 32,870,313 (GRCm39) |
V60A |
probably benign |
Het |
| Irx6 |
T |
A |
8: 93,403,580 (GRCm39) |
Y102N |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,483,481 (GRCm39) |
|
probably null |
Het |
| Mmp27 |
A |
T |
9: 7,579,067 (GRCm39) |
|
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,868,264 (GRCm39) |
M1K |
probably null |
Het |
| Or1j21 |
T |
A |
2: 36,683,350 (GRCm39) |
M34K |
probably damaging |
Het |
| Or2f2 |
C |
A |
6: 42,767,451 (GRCm39) |
H159Q |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,922 (GRCm39) |
Y50F |
probably benign |
Het |
| Or8c8 |
G |
T |
9: 38,165,501 (GRCm39) |
V263F |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,926 (GRCm39) |
R629G |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,810 (GRCm39) |
M650L |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,999,855 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Taar2 |
T |
G |
10: 23,816,927 (GRCm39) |
W156G |
probably damaging |
Het |
| Trpt1 |
G |
T |
19: 6,974,138 (GRCm39) |
M45I |
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,930,882 (GRCm39) |
T357A |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,851,525 (GRCm39) |
R1831* |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,013,271 (GRCm39) |
Y287* |
probably null |
Het |
| Utrn |
T |
A |
10: 12,509,777 (GRCm39) |
K2398N |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,182,792 (GRCm39) |
|
probably null |
Het |
| Vps9d1 |
A |
T |
8: 123,974,706 (GRCm39) |
H249Q |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,576,215 (GRCm39) |
C432S |
probably damaging |
Het |
| Zfp369 |
T |
A |
13: 65,439,776 (GRCm39) |
Y153* |
probably null |
Het |
| Zfp760 |
C |
T |
17: 21,942,286 (GRCm39) |
P487L |
probably damaging |
Het |
| Zswim2 |
A |
C |
2: 83,754,039 (GRCm39) |
V207G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGTGCCATAATCGTGTCTGGAAA -3'
(R):5'- TTTGTAGTCTGCAACAATTCCTCAGTGT -3'
Sequencing Primer
(F):5'- ACAAGTGACCTGATAAGGTTTCC -3'
(R):5'- TGAAATATTGAGTCCTCCAGGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation