Incidental Mutation 'R7965:Skint2'
| ID |
650312 |
| 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 |
046008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
112470795-112509445 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112502648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 286
(M286K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106560]
[ENSMUST00000186969]
|
| AlphaFold |
A7XUX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106560
AA Change: M286K
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: M286K
| 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 benign
Transcript: ENSMUST00000186969
AA Change: M286K
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: M286K
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
A |
G |
18: 36,791,465 (GRCm39) |
T154A |
|
Het |
| Arhgap21 |
A |
G |
2: 20,854,007 (GRCm39) |
I1795T |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,850,762 (GRCm39) |
V436A |
probably benign |
Het |
| Bche |
A |
T |
3: 73,609,149 (GRCm39) |
N92K |
probably damaging |
Het |
| Bmp2 |
C |
T |
2: 133,403,105 (GRCm39) |
H219Y |
probably benign |
Het |
| Cables1 |
T |
G |
18: 11,973,269 (GRCm39) |
V136G |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,769,270 (GRCm39) |
R1887* |
probably null |
Het |
| Chrd |
A |
G |
16: 20,557,903 (GRCm39) |
E774G |
probably benign |
Het |
| Chrna2 |
A |
G |
14: 66,388,525 (GRCm39) |
*513W |
probably null |
Het |
| Cracr2b |
T |
C |
7: 141,044,161 (GRCm39) |
F131S |
probably damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,523 (GRCm39) |
I545N |
possibly damaging |
Het |
| Enpp3 |
T |
A |
10: 24,654,717 (GRCm39) |
T654S |
possibly damaging |
Het |
| Glce |
A |
G |
9: 61,968,228 (GRCm39) |
S308P |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hmmr |
A |
C |
11: 40,606,256 (GRCm39) |
|
probably null |
Het |
| Hoxb9 |
A |
G |
11: 96,165,464 (GRCm39) |
N178D |
probably benign |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,595 (GRCm39) |
F82I |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,702,578 (GRCm39) |
K99* |
probably null |
Het |
| Il4i1 |
A |
G |
7: 44,489,819 (GRCm39) |
Q528R |
probably benign |
Het |
| Inhba |
G |
T |
13: 16,201,572 (GRCm39) |
G378V |
possibly damaging |
Het |
| Katna1 |
T |
C |
10: 7,614,623 (GRCm39) |
S44P |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Mgat4d |
T |
C |
8: 84,084,722 (GRCm39) |
V155A |
possibly damaging |
Het |
| Morc2b |
C |
T |
17: 33,354,746 (GRCm39) |
E1009K |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,695,721 (GRCm39) |
L341H |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,129,216 (GRCm39) |
D716N |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,796,953 (GRCm39) |
|
probably benign |
Het |
| Or5t16 |
A |
G |
2: 86,818,707 (GRCm39) |
V271A |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,810 (GRCm39) |
V69I |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,338,815 (GRCm39) |
H4R |
probably benign |
Het |
| Ppp1r37 |
T |
C |
7: 19,265,868 (GRCm39) |
T633A |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,258,302 (GRCm39) |
K576E |
probably damaging |
Het |
| Prl2c5 |
G |
T |
13: 13,360,469 (GRCm39) |
M45I |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,223,824 (GRCm39) |
G397* |
probably null |
Het |
| Rnf44 |
A |
G |
13: 54,830,667 (GRCm39) |
S247P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,336,555 (GRCm39) |
F684L |
probably damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,713,450 (GRCm39) |
G116D |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,762,621 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tmem161a |
C |
T |
8: 70,630,154 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,853,474 (GRCm39) |
H1831Q |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,667,614 (GRCm39) |
H792Q |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,720,542 (GRCm39) |
Q936R |
possibly damaging |
Het |
| Usp53 |
A |
T |
3: 122,756,531 (GRCm39) |
|
probably null |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,696 (GRCm39) |
C271* |
probably null |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,071 (GRCm39) |
M547L |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,332,800 (GRCm39) |
T254M |
probably damaging |
Het |
| Zc3h4 |
T |
C |
7: 16,163,770 (GRCm39) |
F655S |
unknown |
Het |
| Zfp605 |
G |
A |
5: 110,275,316 (GRCm39) |
G145S |
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 |
|
R0625:Skint2
|
UTSW |
4 |
112,481,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GCCCTTACACTTGTACACTAACAATG -3'
(R):5'- GGCGCTGGAATCTAGATCTTATAGG -3'
Sequencing Primer
(F):5'- GTACACTAACAATGTACTCTACACAC -3'
(R):5'- AGGTATGCTCTAATGCTTATTGTTCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation