Incidental Mutation 'R0625:Skint2'
| ID |
57406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint2
|
| Ensembl Gene |
ENSMUSG00000034359 |
| Gene Name |
selection and upkeep of intraepithelial T cells 2 |
| Synonyms |
B7S3, OTTMUSG00000008540 |
| MMRRC Submission |
038814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0625 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
112557194-112652248 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112624086 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 49
(S49T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058791]
[ENSMUST00000106560]
[ENSMUST00000186969]
|
| AlphaFold |
A7XUX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058791
AA Change: S49T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359
AA Change: S49T
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
41 |
122 |
2.52e-9 |
SMART |
|
Pfam:C2-set_2
|
140 |
225 |
2.7e-10 |
PFAM |
|
Pfam:Ig_2
|
153 |
231 |
3.6e-3 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106559
|
| SMART Domains |
Protein: ENSMUSP00000102169
Gene: ENSMUSG00000034359
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGv
|
41 |
122 |
2.52e-9 |
SMART |
|
Pfam:C2-set_2
|
146 |
225 |
5.2e-8 |
PFAM |
|
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106560
AA Change: S49T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: S49T
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
41 |
122 |
2.52e-9 |
SMART |
|
Pfam:C2-set_2
|
145 |
225 |
1.3e-10 |
PFAM |
|
Pfam:Ig_2
|
153 |
231 |
2e-3 |
PFAM |
|
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186969
AA Change: S49T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: S49T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGv
|
41 |
122 |
2.52e-9 |
SMART |
|
Pfam:C2-set_2
|
145 |
225 |
2e-10 |
PFAM |
|
Pfam:Ig_2
|
154 |
231 |
1.7e-3 |
PFAM |
|
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
transmembrane domain
|
322 |
344 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
T |
C |
9: 53,408,065 (GRCm38) |
S2P |
probably benign |
Het |
| Abca16 |
A |
C |
7: 120,435,893 (GRCm38) |
T301P |
probably damaging |
Het |
| Acer2 |
A |
G |
4: 86,887,162 (GRCm38) |
D121G |
possibly damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,171,931 (GRCm38) |
|
probably null |
Het |
| Arhgap11a |
T |
C |
2: 113,841,711 (GRCm38) |
I249V |
probably benign |
Het |
| Arhgap22 |
A |
G |
14: 33,366,714 (GRCm38) |
E219G |
probably benign |
Het |
| C2cd4b |
T |
A |
9: 67,759,751 (GRCm38) |
S10T |
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,683,171 (GRCm38) |
I224N |
probably damaging |
Het |
| Ctrc |
T |
C |
4: 141,841,518 (GRCm38) |
T125A |
probably damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,858,589 (GRCm38) |
S14R |
unknown |
Het |
| Cyp4f37 |
T |
G |
17: 32,634,678 (GRCm38) |
F445L |
probably damaging |
Het |
| Dcbld1 |
T |
G |
10: 52,312,850 (GRCm38) |
I186S |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,382,702 (GRCm38) |
T2510A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 120,071,887 (GRCm38) |
I591T |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 67,841,163 (GRCm38) |
I204N |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,111,987 (GRCm38) |
|
probably null |
Het |
| Erich5 |
A |
G |
15: 34,471,369 (GRCm38) |
E248G |
probably damaging |
Het |
| Fam160a1 |
A |
G |
3: 85,730,500 (GRCm38) |
V164A |
possibly damaging |
Het |
| Foxm1 |
A |
G |
6: 128,373,871 (GRCm38) |
S712G |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,055 (GRCm38) |
T959A |
probably benign |
Het |
| Gfra4 |
C |
T |
2: 131,040,256 (GRCm38) |
V277I |
probably null |
Het |
| Hacd4 |
T |
C |
4: 88,435,010 (GRCm38) |
I82V |
probably benign |
Het |
| Itih2 |
C |
T |
2: 10,123,414 (GRCm38) |
V159I |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,166,651 (GRCm38) |
M2410L |
probably benign |
Het |
| March11 |
A |
G |
15: 26,311,043 (GRCm38) |
I202V |
probably damaging |
Het |
| March3 |
A |
G |
18: 56,811,830 (GRCm38) |
|
probably null |
Het |
| Med12l |
G |
A |
3: 59,247,437 (GRCm38) |
E1135K |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,659,460 (GRCm38) |
G42S |
probably damaging |
Het |
| Mlx |
T |
C |
11: 101,087,782 (GRCm38) |
L78P |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,846,427 (GRCm38) |
C473R |
unknown |
Het |
| N4bp2l1 |
T |
A |
5: 150,576,745 (GRCm38) |
R66* |
probably null |
Het |
| Nes |
A |
G |
3: 87,977,172 (GRCm38) |
T913A |
possibly damaging |
Het |
| Oas1a |
T |
C |
5: 120,899,259 (GRCm38) |
E235G |
probably damaging |
Het |
| Olfr1104 |
T |
A |
2: 87,021,620 (GRCm38) |
H308L |
probably benign |
Het |
| Olfr477 |
T |
C |
7: 107,991,189 (GRCm38) |
S275P |
probably damaging |
Het |
| Olfr905 |
T |
C |
9: 38,473,208 (GRCm38) |
S154P |
possibly damaging |
Het |
| Parn |
C |
T |
16: 13,640,294 (GRCm38) |
V286I |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,765,942 (GRCm38) |
Q470* |
probably null |
Het |
| Phc2 |
C |
G |
4: 128,723,710 (GRCm38) |
H510D |
possibly damaging |
Het |
| Pla2g4f |
T |
A |
2: 120,305,041 (GRCm38) |
D384V |
probably damaging |
Het |
| Plpbp |
A |
T |
8: 27,045,131 (GRCm38) |
N68I |
probably damaging |
Het |
| Podxl2 |
G |
A |
6: 88,849,955 (GRCm38) |
A123V |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,325,550 (GRCm38) |
T1737S |
possibly damaging |
Het |
| Ppp3cc |
T |
C |
14: 70,225,027 (GRCm38) |
E396G |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,491,008 (GRCm38) |
I228F |
probably benign |
Het |
| Prl7d1 |
A |
T |
13: 27,710,140 (GRCm38) |
C149S |
probably benign |
Het |
| Qtrt1 |
G |
T |
9: 21,418,288 (GRCm38) |
M217I |
probably benign |
Het |
| Sec24a |
T |
A |
11: 51,729,454 (GRCm38) |
D456V |
probably damaging |
Het |
| Shox2 |
T |
G |
3: 66,981,544 (GRCm38) |
|
probably null |
Het |
| Smarca5 |
A |
G |
8: 80,720,686 (GRCm38) |
|
probably null |
Het |
| Sorcs2 |
T |
A |
5: 36,024,572 (GRCm38) |
D1068V |
possibly damaging |
Het |
| Tmem114 |
T |
C |
16: 8,412,102 (GRCm38) |
|
probably null |
Het |
| Ttc7b |
T |
A |
12: 100,355,046 (GRCm38) |
M24L |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,408,903 (GRCm38) |
|
probably null |
Het |
| Usp7 |
C |
T |
16: 8,704,982 (GRCm38) |
D102N |
probably benign |
Het |
|
| Other mutations in Skint2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Skint2
|
APN |
4 |
112,624,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00801:Skint2
|
APN |
4 |
112,625,991 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01602:Skint2
|
APN |
4 |
112,625,994 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL01605:Skint2
|
APN |
4 |
112,625,994 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL02015:Skint2
|
APN |
4 |
112,624,128 (GRCm38) |
nonsense |
probably null |
|
|
IGL02694:Skint2
|
APN |
4 |
112,616,595 (GRCm38) |
splice site |
probably benign |
|
|
IGL03247:Skint2
|
APN |
4 |
112,626,026 (GRCm38) |
missense |
probably benign |
0.06 |
|
PIT4677001:Skint2
|
UTSW |
4 |
112,625,938 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0054:Skint2
|
UTSW |
4 |
112,645,463 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0054:Skint2
|
UTSW |
4 |
112,645,463 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0190:Skint2
|
UTSW |
4 |
112,616,532 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0479:Skint2
|
UTSW |
4 |
112,624,041 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1143:Skint2
|
UTSW |
4 |
112,625,936 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1564:Skint2
|
UTSW |
4 |
112,625,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1861:Skint2
|
UTSW |
4 |
112,647,118 (GRCm38) |
intron |
probably benign |
|
|
R1864:Skint2
|
UTSW |
4 |
112,625,909 (GRCm38) |
missense |
probably benign |
0.10 |
|
R3079:Skint2
|
UTSW |
4 |
112,639,673 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3891:Skint2
|
UTSW |
4 |
112,624,186 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4422:Skint2
|
UTSW |
4 |
112,584,588 (GRCm38) |
intron |
probably benign |
|
|
R4799:Skint2
|
UTSW |
4 |
112,652,108 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5458:Skint2
|
UTSW |
4 |
112,624,180 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5482:Skint2
|
UTSW |
4 |
112,625,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5603:Skint2
|
UTSW |
4 |
112,649,764 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7068:Skint2
|
UTSW |
4 |
112,624,351 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7233:Skint2
|
UTSW |
4 |
112,625,925 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7335:Skint2
|
UTSW |
4 |
112,624,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7516:Skint2
|
UTSW |
4 |
112,625,971 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7790:Skint2
|
UTSW |
4 |
112,616,554 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7878:Skint2
|
UTSW |
4 |
112,649,745 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7941:Skint2
|
UTSW |
4 |
112,625,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7965:Skint2
|
UTSW |
4 |
112,645,451 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7976:Skint2
|
UTSW |
4 |
112,624,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8100:Skint2
|
UTSW |
4 |
112,626,000 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9014:Skint2
|
UTSW |
4 |
112,625,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9114:Skint2
|
UTSW |
4 |
112,639,637 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9228:Skint2
|
UTSW |
4 |
112,625,842 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9245:Skint2
|
UTSW |
4 |
112,645,419 (GRCm38) |
missense |
probably benign |
|
|
R9336:Skint2
|
UTSW |
4 |
112,625,857 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9370:Skint2
|
UTSW |
4 |
112,624,062 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9606:Skint2
|
UTSW |
4 |
112,625,950 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGAAGTGTCTCAGCACCTGC -3'
(R):5'- GATCCATGCCTACCTGTGACCTTG -3'
Sequencing Primer
(F):5'- CAGCACCTGCAATTGTTCCT -3'
(R):5'- GTGGTATGACCCATCATCATCAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation