Incidental Mutation 'R2919:Xirp1'
ID |
255434 |
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 |
040504-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.418)
|
Stock # |
R2919 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119847767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 372
(E372G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111635]
[ENSMUST00000177637]
[ENSMUST00000213113]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111635
AA Change: E372G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107262 Gene: ENSMUSG00000079243 AA Change: E372G
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
|
Meta Mutation Damage Score |
0.1486 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (53/54) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
C |
T |
5: 146,122,001 (GRCm39) |
R27H |
probably benign |
Het |
2310002L09Rik |
A |
T |
4: 73,868,845 (GRCm39) |
L31Q |
probably damaging |
Het |
Agbl1 |
G |
A |
7: 76,064,406 (GRCm39) |
D53N |
probably damaging |
Het |
Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
Als2cl |
A |
T |
9: 110,726,567 (GRCm39) |
|
probably null |
Het |
Atg9b |
T |
A |
5: 24,596,542 (GRCm39) |
T125S |
possibly damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,645,343 (GRCm39) |
D1472G |
probably damaging |
Het |
Cd1d2 |
C |
G |
3: 86,894,987 (GRCm39) |
P158A |
probably damaging |
Het |
Cdc45 |
A |
G |
16: 18,627,543 (GRCm39) |
I94T |
probably benign |
Het |
Chd6 |
T |
G |
2: 160,809,800 (GRCm39) |
D1487A |
possibly damaging |
Het |
Edem2 |
T |
C |
2: 155,550,947 (GRCm39) |
Y340C |
probably damaging |
Het |
Fbxl12 |
C |
T |
9: 20,553,509 (GRCm39) |
R26H |
probably damaging |
Het |
Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,021 (GRCm39) |
|
noncoding transcript |
Het |
Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
Inpp4b |
C |
A |
8: 82,711,958 (GRCm39) |
A425E |
possibly damaging |
Het |
Kif1a |
A |
G |
1: 92,974,464 (GRCm39) |
Y964H |
probably damaging |
Het |
Lrp1b |
A |
C |
2: 41,660,911 (GRCm39) |
C66G |
probably damaging |
Het |
Lrp4 |
A |
G |
2: 91,321,075 (GRCm39) |
I1034V |
probably benign |
Het |
Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
Mmrn2 |
T |
C |
14: 34,124,879 (GRCm39) |
V820A |
possibly damaging |
Het |
Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
Mroh9 |
A |
C |
1: 162,884,341 (GRCm39) |
M399R |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
N4bp2 |
G |
A |
5: 65,964,441 (GRCm39) |
G830D |
probably benign |
Het |
Nagpa |
G |
A |
16: 5,021,651 (GRCm39) |
|
probably benign |
Het |
Or52b1 |
C |
T |
7: 104,979,067 (GRCm39) |
V111M |
probably damaging |
Het |
Or5g23 |
G |
A |
2: 85,438,754 (GRCm39) |
P167S |
probably benign |
Het |
Oxgr1 |
T |
A |
14: 120,260,221 (GRCm39) |
|
probably benign |
Het |
Parp3 |
T |
A |
9: 106,350,924 (GRCm39) |
R323W |
possibly damaging |
Het |
Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
Pfkp |
C |
T |
13: 6,643,279 (GRCm39) |
G513D |
probably damaging |
Het |
Pla2g4d |
T |
C |
2: 120,112,108 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,557,582 (GRCm39) |
E1419G |
unknown |
Het |
Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
Sgk2 |
T |
G |
2: 162,841,115 (GRCm39) |
L175R |
probably damaging |
Het |
Sgk2 |
C |
A |
2: 162,841,125 (GRCm39) |
F178L |
probably damaging |
Het |
Sim1 |
T |
C |
10: 50,785,911 (GRCm39) |
Y255H |
probably benign |
Het |
Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
Slc38a3 |
A |
T |
9: 107,534,886 (GRCm39) |
I163N |
probably damaging |
Het |
Slc39a4 |
A |
G |
15: 76,500,870 (GRCm39) |
L31P |
probably damaging |
Het |
Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
Slfnl1 |
G |
T |
4: 120,390,275 (GRCm39) |
|
probably benign |
Het |
Stradb |
G |
A |
1: 59,031,828 (GRCm39) |
V247M |
probably benign |
Het |
Styk1 |
T |
A |
6: 131,289,967 (GRCm39) |
|
probably benign |
Het |
Sult1d1 |
A |
G |
5: 87,707,614 (GRCm39) |
|
probably benign |
Het |
Syk |
C |
T |
13: 52,765,157 (GRCm39) |
P95S |
probably benign |
Het |
Taar2 |
T |
A |
10: 23,817,454 (GRCm39) |
N331K |
probably benign |
Het |
Thsd7b |
A |
G |
1: 130,117,587 (GRCm39) |
|
probably benign |
Het |
Tmbim7 |
G |
A |
5: 3,723,188 (GRCm39) |
|
probably null |
Het |
Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
Tmem184c |
A |
T |
8: 78,331,276 (GRCm39) |
C158S |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,988,548 (GRCm39) |
I310T |
probably benign |
Het |
Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,994,790 (GRCm39) |
E198G |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,066,160 (GRCm39) |
N44D |
probably damaging |
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 |
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 |
R8010:Xirp1
|
UTSW |
9 |
119,846,890 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TGCTGTCTAAGGGAAGGGTC -3'
(R):5'- TTGGATGCCATTCGTGAGATC -3'
Sequencing Primer
(F):5'- CATCATTCTGGGGGACACC -3'
(R):5'- CCATTCGTGAGATCGAGGTGGAC -3'
|
Posted On |
2014-12-29 |