Incidental Mutation 'R8010:Xirp1'
ID |
616863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xirp1
|
Ensembl Gene |
ENSMUSG00000079243 |
Gene Name |
xin actin-binding repeat containing 1 |
Synonyms |
Cmya1, Xin, mXin alpha |
MMRRC Submission |
046050-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.418)
|
Stock # |
R8010 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119846890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 664
(R664S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111635]
[ENSMUST00000177637]
[ENSMUST00000213113]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111635
AA Change: R664S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107262 Gene: ENSMUSG00000079243 AA Change: R664S
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
Pfam:Xin
|
89 |
104 |
1.7e-9 |
PFAM |
Pfam:Xin
|
151 |
166 |
2.1e-9 |
PFAM |
Pfam:Xin
|
186 |
201 |
1.6e-9 |
PFAM |
Pfam:Xin
|
266 |
279 |
4.8e-9 |
PFAM |
Pfam:Xin
|
303 |
317 |
1.1e-10 |
PFAM |
Pfam:Xin
|
341 |
355 |
5.6e-8 |
PFAM |
Pfam:Xin
|
376 |
391 |
6.7e-11 |
PFAM |
Pfam:Xin
|
511 |
526 |
1.5e-12 |
PFAM |
Pfam:Xin
|
549 |
563 |
2.6e-11 |
PFAM |
Pfam:Xin
|
593 |
607 |
5.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177637
|
SMART Domains |
Protein: ENSMUSP00000136413 Gene: ENSMUSG00000052336
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
49 |
294 |
3.5e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213113
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit cardiac hypertrophy and a disruption of cardiac intercalated disc structure and myofilament abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,557,303 (GRCm39) |
H130L |
probably benign |
Het |
Abca1 |
A |
G |
4: 53,127,600 (GRCm39) |
S140P |
probably benign |
Het |
Aoc1 |
T |
C |
6: 48,882,582 (GRCm39) |
Y153H |
probably benign |
Het |
Arhgdib |
A |
G |
6: 136,903,720 (GRCm39) |
I118T |
probably damaging |
Het |
Atp1a3 |
T |
A |
7: 24,680,070 (GRCm39) |
E865V |
possibly damaging |
Het |
Atrnl1 |
T |
C |
19: 57,670,878 (GRCm39) |
V587A |
probably benign |
Het |
Ccdc107 |
G |
T |
4: 43,495,768 (GRCm39) |
E199* |
probably null |
Het |
Cd55 |
A |
T |
1: 130,387,353 (GRCm39) |
D148E |
probably benign |
Het |
Cdc42ep1 |
C |
T |
15: 78,731,999 (GRCm39) |
T148I |
possibly damaging |
Het |
Cep164 |
A |
T |
9: 45,734,969 (GRCm39) |
D19E |
unknown |
Het |
Chsy3 |
A |
G |
18: 59,543,226 (GRCm39) |
Y788C |
probably damaging |
Het |
Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,340,897 (GRCm39) |
|
probably null |
Het |
Ddr1 |
T |
A |
17: 36,002,384 (GRCm39) |
M175L |
possibly damaging |
Het |
Dicer1 |
C |
A |
12: 104,658,391 (GRCm39) |
K1850N |
probably damaging |
Het |
Dnajc6 |
C |
T |
4: 101,475,611 (GRCm39) |
R495C |
probably benign |
Het |
Ecpas |
T |
A |
4: 58,832,681 (GRCm39) |
Q893L |
unknown |
Het |
Fbh1 |
A |
T |
2: 11,772,443 (GRCm39) |
N79K |
probably benign |
Het |
Frmpd1 |
T |
A |
4: 45,284,272 (GRCm39) |
V1031D |
possibly damaging |
Het |
Gm7298 |
A |
G |
6: 121,712,542 (GRCm39) |
E118G |
probably benign |
Het |
Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
Jcad |
A |
G |
18: 4,674,581 (GRCm39) |
D781G |
probably benign |
Het |
Kitl |
A |
T |
10: 99,887,765 (GRCm39) |
T25S |
probably benign |
Het |
Krt5 |
T |
C |
15: 101,620,791 (GRCm39) |
D152G |
probably damaging |
Het |
Krtap5-5 |
T |
C |
7: 141,783,648 (GRCm39) |
M1V |
probably null |
Het |
Ktn1 |
C |
T |
14: 47,943,230 (GRCm39) |
T862I |
possibly damaging |
Het |
Mapk4 |
A |
T |
18: 74,063,647 (GRCm39) |
I525N |
probably benign |
Het |
Megf6 |
T |
C |
4: 154,354,964 (GRCm39) |
F1457S |
probably benign |
Het |
Mrm3 |
A |
T |
11: 76,141,173 (GRCm39) |
S394C |
probably damaging |
Het |
Mtmr4 |
T |
G |
11: 87,489,690 (GRCm39) |
V71G |
probably damaging |
Het |
Nek8 |
T |
C |
11: 78,067,422 (GRCm39) |
Y4C |
probably damaging |
Het |
Or13g1 |
T |
A |
7: 85,956,260 (GRCm39) |
E20D |
probably benign |
Het |
Or5ac21 |
T |
C |
16: 59,123,867 (GRCm39) |
M117T |
probably damaging |
Het |
Or7g30 |
A |
T |
9: 19,352,988 (GRCm39) |
I260L |
probably benign |
Het |
Pla2r1 |
T |
C |
2: 60,345,304 (GRCm39) |
T351A |
probably benign |
Het |
Plcb4 |
C |
T |
2: 135,749,480 (GRCm39) |
T49M |
probably benign |
Het |
Psg20 |
T |
C |
7: 18,414,992 (GRCm39) |
D301G |
probably benign |
Het |
Ptpn13 |
C |
T |
5: 103,707,803 (GRCm39) |
Q1455* |
probably null |
Het |
Rbbp8 |
A |
T |
18: 11,855,290 (GRCm39) |
N505I |
possibly damaging |
Het |
Rgs18 |
A |
G |
1: 144,631,738 (GRCm39) |
C125R |
probably benign |
Het |
Rpap2 |
G |
A |
5: 107,751,471 (GRCm39) |
C105Y |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,490,233 (GRCm39) |
G570R |
possibly damaging |
Het |
Sell |
C |
T |
1: 163,893,081 (GRCm39) |
T99I |
possibly damaging |
Het |
Slc14a1 |
A |
T |
18: 78,159,704 (GRCm39) |
M63K |
probably benign |
Het |
Sp140l2 |
G |
A |
1: 85,224,671 (GRCm39) |
S288L |
possibly damaging |
Het |
Syne2 |
A |
T |
12: 75,977,512 (GRCm39) |
D1319V |
probably benign |
Het |
Tdp2 |
C |
T |
13: 25,020,010 (GRCm39) |
T99I |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,380,228 (GRCm39) |
S647T |
unknown |
Het |
Tpd52l1 |
T |
G |
10: 31,234,009 (GRCm39) |
D48A |
possibly damaging |
Het |
Ttll10 |
T |
C |
4: 156,131,618 (GRCm39) |
D169G |
probably damaging |
Het |
Wars2 |
C |
A |
3: 99,124,146 (GRCm39) |
L336I |
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,693,584 (GRCm39) |
W2906L |
|
Het |
Xdh |
A |
T |
17: 74,216,312 (GRCm39) |
Y711* |
probably null |
Het |
|
Other mutations in Xirp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01814:Xirp1
|
APN |
9 |
119,846,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02105:Xirp1
|
APN |
9 |
119,846,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03365:Xirp1
|
APN |
9 |
119,847,605 (GRCm39) |
missense |
probably damaging |
0.99 |
busybody
|
UTSW |
9 |
119,848,819 (GRCm39) |
missense |
possibly damaging |
0.92 |
Buzzer
|
UTSW |
9 |
119,847,557 (GRCm39) |
missense |
probably damaging |
1.00 |
cornflower
|
UTSW |
9 |
119,848,881 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
R0006:Xirp1
|
UTSW |
9 |
119,846,520 (GRCm39) |
missense |
probably benign |
0.01 |
R0320:Xirp1
|
UTSW |
9 |
119,845,533 (GRCm39) |
missense |
probably benign |
0.00 |
R0881:Xirp1
|
UTSW |
9 |
119,847,483 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1220:Xirp1
|
UTSW |
9 |
119,846,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1707:Xirp1
|
UTSW |
9 |
119,847,841 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1783:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
R1785:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
R1978:Xirp1
|
UTSW |
9 |
119,847,657 (GRCm39) |
missense |
probably benign |
0.00 |
R1983:Xirp1
|
UTSW |
9 |
119,845,695 (GRCm39) |
nonsense |
probably null |
|
R2064:Xirp1
|
UTSW |
9 |
119,845,962 (GRCm39) |
missense |
probably benign |
0.00 |
R2860:Xirp1
|
UTSW |
9 |
119,848,881 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
R2860:Xirp1
|
UTSW |
9 |
119,847,444 (GRCm39) |
missense |
probably benign |
0.04 |
R2861:Xirp1
|
UTSW |
9 |
119,847,444 (GRCm39) |
missense |
probably benign |
0.04 |
R2861:Xirp1
|
UTSW |
9 |
119,848,881 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
R2919:Xirp1
|
UTSW |
9 |
119,847,767 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3013:Xirp1
|
UTSW |
9 |
119,848,851 (GRCm39) |
missense |
probably benign |
|
R3704:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
0.04 |
R3898:Xirp1
|
UTSW |
9 |
119,848,406 (GRCm39) |
missense |
probably benign |
0.00 |
R3981:Xirp1
|
UTSW |
9 |
119,846,810 (GRCm39) |
missense |
probably damaging |
0.98 |
R4609:Xirp1
|
UTSW |
9 |
119,845,572 (GRCm39) |
missense |
probably benign |
|
R4613:Xirp1
|
UTSW |
9 |
119,848,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R4660:Xirp1
|
UTSW |
9 |
119,846,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R4703:Xirp1
|
UTSW |
9 |
119,846,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:Xirp1
|
UTSW |
9 |
119,846,069 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4993:Xirp1
|
UTSW |
9 |
119,847,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R5297:Xirp1
|
UTSW |
9 |
119,848,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R5939:Xirp1
|
UTSW |
9 |
119,847,575 (GRCm39) |
missense |
probably benign |
0.01 |
R6091:Xirp1
|
UTSW |
9 |
119,847,029 (GRCm39) |
missense |
probably benign |
0.01 |
R6290:Xirp1
|
UTSW |
9 |
119,847,791 (GRCm39) |
missense |
probably benign |
|
R6376:Xirp1
|
UTSW |
9 |
119,847,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R6515:Xirp1
|
UTSW |
9 |
119,845,983 (GRCm39) |
missense |
probably benign |
0.00 |
R6616:Xirp1
|
UTSW |
9 |
119,848,080 (GRCm39) |
missense |
probably damaging |
0.98 |
R6976:Xirp1
|
UTSW |
9 |
119,846,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R7165:Xirp1
|
UTSW |
9 |
119,848,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7471:Xirp1
|
UTSW |
9 |
119,848,176 (GRCm39) |
nonsense |
probably null |
|
R7744:Xirp1
|
UTSW |
9 |
119,845,912 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7847:Xirp1
|
UTSW |
9 |
119,848,819 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8371:Xirp1
|
UTSW |
9 |
119,848,499 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8868:Xirp1
|
UTSW |
9 |
119,846,871 (GRCm39) |
missense |
probably benign |
|
R9165:Xirp1
|
UTSW |
9 |
119,847,302 (GRCm39) |
missense |
probably benign |
0.05 |
R9342:Xirp1
|
UTSW |
9 |
119,845,950 (GRCm39) |
missense |
probably benign |
|
R9440:Xirp1
|
UTSW |
9 |
119,847,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R9527:Xirp1
|
UTSW |
9 |
119,847,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R9605:Xirp1
|
UTSW |
9 |
119,847,274 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9629:Xirp1
|
UTSW |
9 |
119,846,379 (GRCm39) |
missense |
probably benign |
0.00 |
V8831:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
X0025:Xirp1
|
UTSW |
9 |
119,848,221 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
Z1176:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
Z1176:Xirp1
|
UTSW |
9 |
119,845,946 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Xirp1
|
UTSW |
9 |
119,846,220 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACAGTTTTCAAAGAGCCAGG -3'
(R):5'- CTATGAGCGAGTTGGCAGAG -3'
Sequencing Primer
(F):5'- CCAGGTGAATTTATGCACAGAGCC -3'
(R):5'- GAAGCGAGAATCTGAGGTCAC -3'
|
Posted On |
2020-01-23 |