Incidental Mutation 'R3195:Skint9'
| ID |
267589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint9
|
| Ensembl Gene |
ENSMUSG00000049972 |
| Gene Name |
selection and upkeep of intraepithelial T cells 9 |
| Synonyms |
A030013N09Rik |
| MMRRC Submission |
040616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R3195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
112243166-112291182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 112248148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 199
(I199L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058605]
|
| AlphaFold |
A7TZG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058605
AA Change: I199L
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052670
Gene: ENSMUSG00000049972
AA Change: I199L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4F8T|A
|
26 |
125 |
1e-9 |
PDB |
|
Blast:IG_like
|
32 |
119 |
8e-12 |
BLAST |
|
SCOP:d1eula_
|
154 |
245 |
5e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
| Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
| Calb2 |
C |
T |
8: 110,883,635 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,182,454 (GRCm39) |
|
probably benign |
Het |
| Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,921,236 (GRCm39) |
T204A |
probably benign |
Het |
| Gapdh |
T |
C |
6: 125,139,583 (GRCm39) |
N229S |
possibly damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
| Iqub |
G |
C |
6: 24,462,036 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| L1td1 |
A |
G |
4: 98,625,755 (GRCm39) |
E650G |
possibly damaging |
Het |
| Lilra5 |
G |
A |
7: 4,241,756 (GRCm39) |
G185D |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,615,584 (GRCm39) |
S323P |
possibly damaging |
Het |
| Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,466,801 (GRCm39) |
C283Y |
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,639,991 (GRCm39) |
L122P |
probably damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,427 (GRCm39) |
F106L |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,484 (GRCm39) |
Y278C |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,257 (GRCm39) |
E137G |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,925,736 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,245,418 (GRCm39) |
I730N |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,245,861 (GRCm39) |
V595M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,661,222 (GRCm39) |
E939G |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,913,879 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
T |
A |
7: 63,849,061 (GRCm39) |
Y102* |
probably null |
Het |
| Usp42 |
A |
G |
5: 143,702,954 (GRCm39) |
S556P |
probably benign |
Het |
| Zfp957 |
A |
G |
14: 79,450,332 (GRCm39) |
V489A |
probably damaging |
Het |
|
| Other mutations in Skint9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02399:Skint9
|
APN |
4 |
112,246,447 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02417:Skint9
|
APN |
4 |
112,271,335 (GRCm39) |
splice site |
probably benign |
|
|
IGL03111:Skint9
|
APN |
4 |
112,248,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
land_lubber
|
UTSW |
4 |
112,248,174 (GRCm39) |
nonsense |
probably null |
|
|
R0390:Skint9
|
UTSW |
4 |
112,246,376 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0400:Skint9
|
UTSW |
4 |
112,271,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Skint9
|
UTSW |
4 |
112,246,398 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1757:Skint9
|
UTSW |
4 |
112,271,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2431:Skint9
|
UTSW |
4 |
112,246,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Skint9
|
UTSW |
4 |
112,248,148 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4329:Skint9
|
UTSW |
4 |
112,249,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4855:Skint9
|
UTSW |
4 |
112,248,208 (GRCm39) |
missense |
probably benign |
|
|
R4986:Skint9
|
UTSW |
4 |
112,248,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5093:Skint9
|
UTSW |
4 |
112,246,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5844:Skint9
|
UTSW |
4 |
112,271,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5897:Skint9
|
UTSW |
4 |
112,271,113 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7123:Skint9
|
UTSW |
4 |
112,248,174 (GRCm39) |
nonsense |
probably null |
|
|
R7406:Skint9
|
UTSW |
4 |
112,246,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7591:Skint9
|
UTSW |
4 |
112,248,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9364:Skint9
|
UTSW |
4 |
112,248,915 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9481:Skint9
|
UTSW |
4 |
112,248,915 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9548:Skint9
|
UTSW |
4 |
112,276,346 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9554:Skint9
|
UTSW |
4 |
112,248,915 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGCACTTGAATCCACTAGG -3'
(R):5'- GTTGTATCTTACTAACGCTAACCC -3'
Sequencing Primer
(F):5'- CCACTAGGATGTTACTGAAACCATG -3'
(R):5'- GCATCAAGACCTTCAAGAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation