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 |
OTTMUSG00000008540, B7S3 |
MMRRC Submission |
038814-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R0625 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
112470795-112509445 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 112481283 bp (GRCm39)
|
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: 53,319,365 (GRCm39) |
S2P |
probably benign |
Het |
Abca16 |
A |
C |
7: 120,035,116 (GRCm39) |
T301P |
probably damaging |
Het |
Acer2 |
A |
G |
4: 86,805,399 (GRCm39) |
D121G |
possibly damaging |
Het |
Adgrd1 |
T |
C |
5: 129,248,995 (GRCm39) |
|
probably null |
Het |
Arhgap11a |
T |
C |
2: 113,672,056 (GRCm39) |
I249V |
probably benign |
Het |
Arhgap22 |
A |
G |
14: 33,088,671 (GRCm39) |
E219G |
probably benign |
Het |
C2cd4b |
T |
A |
9: 67,667,033 (GRCm39) |
S10T |
probably benign |
Het |
Cnot6 |
A |
T |
11: 49,573,998 (GRCm39) |
I224N |
probably damaging |
Het |
Ctrc |
T |
C |
4: 141,568,829 (GRCm39) |
T125A |
probably damaging |
Het |
Cxxc5 |
T |
G |
18: 35,991,642 (GRCm39) |
S14R |
unknown |
Het |
Cyp4f37 |
T |
G |
17: 32,853,652 (GRCm39) |
F445L |
probably damaging |
Het |
Dcbld1 |
T |
G |
10: 52,188,946 (GRCm39) |
I186S |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,289,986 (GRCm39) |
T2510A |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,671,110 (GRCm39) |
I591T |
possibly damaging |
Het |
Dock5 |
A |
T |
14: 68,078,612 (GRCm39) |
I204N |
probably benign |
Het |
Dysf |
G |
A |
6: 84,088,969 (GRCm39) |
|
probably null |
Het |
Erich5 |
A |
G |
15: 34,471,515 (GRCm39) |
E248G |
probably damaging |
Het |
Fhip1a |
A |
G |
3: 85,637,807 (GRCm39) |
V164A |
possibly damaging |
Het |
Foxm1 |
A |
G |
6: 128,350,834 (GRCm39) |
S712G |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,284,055 (GRCm39) |
T959A |
probably benign |
Het |
Gfra4 |
C |
T |
2: 130,882,176 (GRCm39) |
V277I |
probably null |
Het |
Hacd4 |
T |
C |
4: 88,353,247 (GRCm39) |
I82V |
probably benign |
Het |
Itih2 |
C |
T |
2: 10,128,225 (GRCm39) |
V159I |
possibly damaging |
Het |
Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
Marchf11 |
A |
G |
15: 26,311,129 (GRCm39) |
I202V |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,944,902 (GRCm39) |
|
probably null |
Het |
Med12l |
G |
A |
3: 59,154,858 (GRCm39) |
E1135K |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mlx |
T |
C |
11: 100,978,608 (GRCm39) |
L78P |
possibly damaging |
Het |
Muc5b |
T |
C |
7: 141,400,164 (GRCm39) |
C473R |
unknown |
Het |
N4bp2l1 |
T |
A |
5: 150,500,210 (GRCm39) |
R66* |
probably null |
Het |
Nes |
A |
G |
3: 87,884,479 (GRCm39) |
T913A |
possibly damaging |
Het |
Oas1a |
T |
C |
5: 121,037,322 (GRCm39) |
E235G |
probably damaging |
Het |
Or5p56 |
T |
C |
7: 107,590,396 (GRCm39) |
S275P |
probably damaging |
Het |
Or8b1c |
T |
C |
9: 38,384,504 (GRCm39) |
S154P |
possibly damaging |
Het |
Or8i2 |
T |
A |
2: 86,851,964 (GRCm39) |
H308L |
probably benign |
Het |
Parn |
C |
T |
16: 13,458,158 (GRCm39) |
V286I |
probably benign |
Het |
Paxip1 |
G |
A |
5: 27,970,940 (GRCm39) |
Q470* |
probably null |
Het |
Phc2 |
C |
G |
4: 128,617,503 (GRCm39) |
H510D |
possibly damaging |
Het |
Pla2g4f |
T |
A |
2: 120,135,522 (GRCm39) |
D384V |
probably damaging |
Het |
Plpbp |
A |
T |
8: 27,535,159 (GRCm39) |
N68I |
probably damaging |
Het |
Podxl2 |
G |
A |
6: 88,826,937 (GRCm39) |
A123V |
possibly damaging |
Het |
Pole |
A |
T |
5: 110,473,416 (GRCm39) |
T1737S |
possibly damaging |
Het |
Ppp3cc |
T |
C |
14: 70,462,476 (GRCm39) |
E396G |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,321,352 (GRCm39) |
I228F |
probably benign |
Het |
Prl7d1 |
A |
T |
13: 27,894,123 (GRCm39) |
C149S |
probably benign |
Het |
Qtrt1 |
G |
T |
9: 21,329,584 (GRCm39) |
M217I |
probably benign |
Het |
Sec24a |
T |
A |
11: 51,620,281 (GRCm39) |
D456V |
probably damaging |
Het |
Shox2 |
T |
G |
3: 66,888,877 (GRCm39) |
|
probably null |
Het |
Smarca5 |
A |
G |
8: 81,447,315 (GRCm39) |
|
probably null |
Het |
Sorcs2 |
T |
A |
5: 36,181,916 (GRCm39) |
D1068V |
possibly damaging |
Het |
Tmem114 |
T |
C |
16: 8,229,966 (GRCm39) |
|
probably null |
Het |
Ttc7b |
T |
A |
12: 100,321,305 (GRCm39) |
M24L |
probably benign |
Het |
Ttll3 |
A |
G |
6: 113,385,864 (GRCm39) |
|
probably null |
Het |
Usp7 |
C |
T |
16: 8,522,846 (GRCm39) |
D102N |
probably benign |
Het |
|
Other mutations in Skint2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Skint2
|
APN |
4 |
112,481,409 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00801:Skint2
|
APN |
4 |
112,483,188 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01602:Skint2
|
APN |
4 |
112,483,191 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01605:Skint2
|
APN |
4 |
112,483,191 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02015:Skint2
|
APN |
4 |
112,481,325 (GRCm39) |
nonsense |
probably null |
|
IGL02694:Skint2
|
APN |
4 |
112,473,792 (GRCm39) |
splice site |
probably benign |
|
IGL03247:Skint2
|
APN |
4 |
112,483,223 (GRCm39) |
missense |
probably benign |
0.06 |
PIT4677001:Skint2
|
UTSW |
4 |
112,483,135 (GRCm39) |
missense |
probably benign |
0.10 |
R0054:Skint2
|
UTSW |
4 |
112,502,660 (GRCm39) |
missense |
probably benign |
0.15 |
R0054:Skint2
|
UTSW |
4 |
112,502,660 (GRCm39) |
missense |
probably benign |
0.15 |
R0190:Skint2
|
UTSW |
4 |
112,473,729 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0479:Skint2
|
UTSW |
4 |
112,481,238 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1143:Skint2
|
UTSW |
4 |
112,483,133 (GRCm39) |
missense |
probably benign |
0.00 |
R1564:Skint2
|
UTSW |
4 |
112,483,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Skint2
|
UTSW |
4 |
112,504,315 (GRCm39) |
intron |
probably benign |
|
R1864:Skint2
|
UTSW |
4 |
112,483,106 (GRCm39) |
missense |
probably benign |
0.10 |
R3079:Skint2
|
UTSW |
4 |
112,496,870 (GRCm39) |
missense |
probably benign |
0.01 |
R3891:Skint2
|
UTSW |
4 |
112,481,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Skint2
|
UTSW |
4 |
112,441,785 (GRCm39) |
intron |
probably benign |
|
R4799:Skint2
|
UTSW |
4 |
112,509,305 (GRCm39) |
missense |
probably benign |
0.07 |
R5458:Skint2
|
UTSW |
4 |
112,481,377 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5482:Skint2
|
UTSW |
4 |
112,483,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R5603:Skint2
|
UTSW |
4 |
112,506,961 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7068:Skint2
|
UTSW |
4 |
112,481,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R7233:Skint2
|
UTSW |
4 |
112,483,122 (GRCm39) |
missense |
probably damaging |
0.99 |
R7335:Skint2
|
UTSW |
4 |
112,481,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Skint2
|
UTSW |
4 |
112,483,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R7790:Skint2
|
UTSW |
4 |
112,473,751 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7878:Skint2
|
UTSW |
4 |
112,506,942 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7941:Skint2
|
UTSW |
4 |
112,483,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R7965:Skint2
|
UTSW |
4 |
112,502,648 (GRCm39) |
missense |
probably benign |
0.17 |
R7976:Skint2
|
UTSW |
4 |
112,481,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R8100:Skint2
|
UTSW |
4 |
112,483,197 (GRCm39) |
missense |
probably damaging |
0.99 |
R9014:Skint2
|
UTSW |
4 |
112,483,026 (GRCm39) |
missense |
probably benign |
0.00 |
R9114:Skint2
|
UTSW |
4 |
112,496,834 (GRCm39) |
missense |
probably benign |
0.00 |
R9228:Skint2
|
UTSW |
4 |
112,483,039 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9245:Skint2
|
UTSW |
4 |
112,502,616 (GRCm39) |
missense |
probably benign |
|
R9336:Skint2
|
UTSW |
4 |
112,483,054 (GRCm39) |
missense |
probably benign |
0.02 |
R9370:Skint2
|
UTSW |
4 |
112,481,259 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9606:Skint2
|
UTSW |
4 |
112,483,147 (GRCm39) |
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 |