Incidental Mutation 'R0079:Strip2'
ID |
19605 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strip2
|
Ensembl Gene |
ENSMUSG00000039629 |
Gene Name |
striatin interacting protein 2 |
Synonyms |
Myoscape, D330017J20Rik, Fam40b |
MMRRC Submission |
038366-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R0079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
29917011-29959680 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 29920532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046028]
[ENSMUST00000115224]
[ENSMUST00000151738]
|
AlphaFold |
Q8C9H6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046028
|
SMART Domains |
Protein: ENSMUSP00000036477 Gene: ENSMUSG00000039629
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
40 |
N/A |
INTRINSIC |
N1221
|
57 |
364 |
1.68e-132 |
SMART |
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
low complexity region
|
398 |
419 |
N/A |
INTRINSIC |
DUF3402
|
466 |
822 |
4.98e-199 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115224
|
SMART Domains |
Protein: ENSMUSP00000110879 Gene: ENSMUSG00000039629
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
40 |
N/A |
INTRINSIC |
N1221
|
57 |
364 |
1.68e-132 |
SMART |
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
low complexity region
|
398 |
419 |
N/A |
INTRINSIC |
DUF3402
|
466 |
662 |
4.85e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130969
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137068
|
Predicted Effect |
probably null
Transcript: ENSMUST00000151738
|
SMART Domains |
Protein: ENSMUSP00000119506 Gene: ENSMUSG00000039629
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
40 |
N/A |
INTRINSIC |
N1221
|
57 |
364 |
1.68e-132 |
SMART |
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
low complexity region
|
398 |
419 |
N/A |
INTRINSIC |
DUF3402
|
466 |
794 |
1.72e-161 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201689
|
Meta Mutation Damage Score |
0.9495 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
Validation Efficiency |
78% (155/199) |
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
T |
A |
12: 17,057,183 (GRCm39) |
T105S |
possibly damaging |
Het |
Abca13 |
G |
A |
11: 9,243,493 (GRCm39) |
M1785I |
probably benign |
Het |
Adamts3 |
G |
C |
5: 89,840,912 (GRCm39) |
P804A |
probably benign |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Ank2 |
G |
T |
3: 126,728,264 (GRCm39) |
D776E |
probably benign |
Het |
Cep152 |
T |
A |
2: 125,460,373 (GRCm39) |
K193M |
possibly damaging |
Het |
Cep55 |
C |
T |
19: 38,048,769 (GRCm39) |
L142F |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,470,206 (GRCm39) |
Y1884C |
probably damaging |
Het |
Clasp1 |
T |
C |
1: 118,471,034 (GRCm39) |
L890P |
probably damaging |
Het |
Cul9 |
C |
A |
17: 46,848,589 (GRCm39) |
E716* |
probably null |
Het |
Cytip |
T |
A |
2: 58,050,006 (GRCm39) |
D21V |
probably benign |
Het |
Denr |
T |
G |
5: 124,062,908 (GRCm39) |
F137C |
probably damaging |
Het |
Dhrs3 |
A |
T |
4: 144,646,618 (GRCm39) |
S197C |
probably damaging |
Het |
Egr4 |
A |
T |
6: 85,489,751 (GRCm39) |
M103K |
probably damaging |
Het |
Eif4enif1 |
C |
T |
11: 3,192,676 (GRCm39) |
Q835* |
probably null |
Het |
Gckr |
A |
G |
5: 31,463,883 (GRCm39) |
I268V |
probably benign |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Hpd |
T |
C |
5: 123,319,544 (GRCm39) |
Y8C |
probably damaging |
Het |
Il12rb2 |
A |
T |
6: 67,338,889 (GRCm39) |
F16I |
probably benign |
Het |
Ildr2 |
A |
T |
1: 166,135,289 (GRCm39) |
Y347F |
probably damaging |
Het |
Kcnv1 |
T |
C |
15: 44,976,729 (GRCm39) |
D186G |
probably damaging |
Het |
Khdrbs2 |
A |
G |
1: 32,558,996 (GRCm39) |
|
probably null |
Het |
L1cam |
G |
T |
X: 72,913,364 (GRCm39) |
P16H |
probably damaging |
Het |
Lyn |
A |
G |
4: 3,746,768 (GRCm39) |
H161R |
probably damaging |
Het |
Mctp2 |
T |
A |
7: 71,863,864 (GRCm39) |
|
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mitf |
A |
C |
6: 97,973,401 (GRCm39) |
M220L |
probably benign |
Het |
Mrpl21 |
T |
C |
19: 3,334,807 (GRCm39) |
Y50H |
possibly damaging |
Het |
Myh1 |
T |
A |
11: 67,104,237 (GRCm39) |
L968Q |
probably damaging |
Het |
Myo3b |
A |
G |
2: 69,925,502 (GRCm39) |
K18E |
possibly damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
T |
A |
7: 5,330,729 (GRCm39) |
T556S |
possibly damaging |
Het |
Nsmf |
T |
C |
2: 24,949,096 (GRCm39) |
|
probably benign |
Het |
Nsun7 |
C |
T |
5: 66,452,856 (GRCm39) |
P558S |
probably benign |
Het |
Or10h5 |
G |
A |
17: 33,435,079 (GRCm39) |
R80C |
probably benign |
Het |
Or1e34 |
T |
G |
11: 73,778,563 (GRCm39) |
I212L |
probably benign |
Het |
Or56a3 |
T |
C |
7: 104,735,135 (GRCm39) |
S71P |
probably damaging |
Het |
Or5d40 |
A |
T |
2: 88,015,698 (GRCm39) |
Y159F |
possibly damaging |
Het |
Phf19 |
T |
C |
2: 34,785,966 (GRCm39) |
N501S |
probably benign |
Het |
Ranbp17 |
A |
C |
11: 33,450,682 (GRCm39) |
I85S |
probably damaging |
Het |
Robo1 |
A |
G |
16: 72,730,230 (GRCm39) |
|
probably benign |
Het |
Sntg1 |
A |
G |
1: 8,749,286 (GRCm39) |
|
probably benign |
Het |
Snx15 |
A |
G |
19: 6,173,943 (GRCm39) |
L58P |
probably damaging |
Het |
Spink5 |
G |
T |
18: 44,110,831 (GRCm39) |
C134F |
probably damaging |
Het |
Taf1d |
C |
T |
9: 15,221,240 (GRCm39) |
A182V |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,796,380 (GRCm39) |
V475A |
possibly damaging |
Het |
Tent4b |
T |
A |
8: 88,926,631 (GRCm39) |
Y14N |
possibly damaging |
Het |
Tgds |
A |
T |
14: 118,353,647 (GRCm39) |
H223Q |
possibly damaging |
Het |
Thoc2 |
G |
T |
X: 40,952,985 (GRCm39) |
S230Y |
probably benign |
Het |
Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,965,883 (GRCm39) |
L97Q |
probably damaging |
Het |
Trnau1ap |
A |
G |
4: 132,041,656 (GRCm39) |
Y145H |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,970,048 (GRCm39) |
D780E |
probably damaging |
Het |
Vmn1r170 |
T |
A |
7: 23,305,735 (GRCm39) |
S46T |
possibly damaging |
Het |
Vmn1r20 |
A |
T |
6: 57,408,777 (GRCm39) |
R34S |
possibly damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,622,668 (GRCm39) |
M805T |
probably benign |
Het |
Xdh |
G |
A |
17: 74,198,213 (GRCm39) |
R1225C |
probably damaging |
Het |
Zfp341 |
T |
A |
2: 154,466,914 (GRCm39) |
Y94* |
probably null |
Het |
Zfp641 |
T |
C |
15: 98,186,970 (GRCm39) |
N218D |
probably benign |
Het |
Zscan22 |
T |
C |
7: 12,638,014 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Strip2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00472:Strip2
|
APN |
6 |
29,931,213 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01357:Strip2
|
APN |
6 |
29,939,166 (GRCm39) |
splice site |
probably benign |
|
IGL01636:Strip2
|
APN |
6 |
29,931,192 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01959:Strip2
|
APN |
6 |
29,928,553 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01961:Strip2
|
APN |
6 |
29,928,426 (GRCm39) |
splice site |
probably benign |
|
IGL02089:Strip2
|
APN |
6 |
29,917,179 (GRCm39) |
unclassified |
probably benign |
|
1mM(1):Strip2
|
UTSW |
6 |
29,955,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R0331:Strip2
|
UTSW |
6 |
29,926,559 (GRCm39) |
missense |
probably benign |
0.44 |
R0367:Strip2
|
UTSW |
6 |
29,937,650 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0592:Strip2
|
UTSW |
6 |
29,931,209 (GRCm39) |
missense |
probably benign |
0.28 |
R1087:Strip2
|
UTSW |
6 |
29,927,633 (GRCm39) |
missense |
probably damaging |
0.99 |
R1390:Strip2
|
UTSW |
6 |
29,929,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R1758:Strip2
|
UTSW |
6 |
29,941,940 (GRCm39) |
critical splice donor site |
probably null |
|
R2213:Strip2
|
UTSW |
6 |
29,931,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2437:Strip2
|
UTSW |
6 |
29,941,940 (GRCm39) |
critical splice donor site |
probably null |
|
R2900:Strip2
|
UTSW |
6 |
29,939,034 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3892:Strip2
|
UTSW |
6 |
29,917,074 (GRCm39) |
unclassified |
probably benign |
|
R4010:Strip2
|
UTSW |
6 |
29,955,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4435:Strip2
|
UTSW |
6 |
29,925,049 (GRCm39) |
missense |
probably benign |
0.06 |
R4807:Strip2
|
UTSW |
6 |
29,925,092 (GRCm39) |
nonsense |
probably null |
|
R5015:Strip2
|
UTSW |
6 |
29,931,265 (GRCm39) |
missense |
probably benign |
0.03 |
R5080:Strip2
|
UTSW |
6 |
29,945,592 (GRCm39) |
missense |
probably damaging |
0.99 |
R5484:Strip2
|
UTSW |
6 |
29,917,154 (GRCm39) |
unclassified |
probably benign |
|
R5502:Strip2
|
UTSW |
6 |
29,927,623 (GRCm39) |
missense |
probably benign |
0.23 |
R5899:Strip2
|
UTSW |
6 |
29,956,957 (GRCm39) |
utr 3 prime |
probably benign |
|
R6004:Strip2
|
UTSW |
6 |
29,926,570 (GRCm39) |
missense |
probably damaging |
0.98 |
R6479:Strip2
|
UTSW |
6 |
29,944,496 (GRCm39) |
splice site |
probably null |
|
R6835:Strip2
|
UTSW |
6 |
29,941,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R7068:Strip2
|
UTSW |
6 |
29,932,207 (GRCm39) |
missense |
probably benign |
0.03 |
R7073:Strip2
|
UTSW |
6 |
29,941,911 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7088:Strip2
|
UTSW |
6 |
29,920,532 (GRCm39) |
critical splice donor site |
probably null |
|
R7231:Strip2
|
UTSW |
6 |
29,944,486 (GRCm39) |
missense |
probably damaging |
0.96 |
R7399:Strip2
|
UTSW |
6 |
29,927,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7813:Strip2
|
UTSW |
6 |
29,923,912 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7827:Strip2
|
UTSW |
6 |
29,923,928 (GRCm39) |
missense |
probably benign |
0.18 |
R8354:Strip2
|
UTSW |
6 |
29,920,531 (GRCm39) |
critical splice donor site |
probably null |
|
R8723:Strip2
|
UTSW |
6 |
29,941,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R8750:Strip2
|
UTSW |
6 |
29,931,815 (GRCm39) |
missense |
probably damaging |
0.96 |
R8793:Strip2
|
UTSW |
6 |
29,956,815 (GRCm39) |
missense |
probably benign |
0.27 |
R8843:Strip2
|
UTSW |
6 |
29,923,968 (GRCm39) |
missense |
probably benign |
0.44 |
R9175:Strip2
|
UTSW |
6 |
29,933,035 (GRCm39) |
missense |
probably benign |
0.01 |
R9336:Strip2
|
UTSW |
6 |
29,931,824 (GRCm39) |
missense |
probably benign |
0.03 |
R9381:Strip2
|
UTSW |
6 |
29,927,333 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCATTGTTTCAGGAATCTTCTCACCC -3'
(R):5'- TGATCTGAGAGCAAATCAGTGCAGC -3'
Sequencing Primer
(F):5'- agaagaatcacattcctgagcc -3'
(R):5'- AGACTGAACAAATGAAGACTACTAAG -3'
|
Posted On |
2013-04-11 |