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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 3.5e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213113
Meta Mutation Damage Score 0.1486 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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