Incidental Mutation 'R6091:Xirp1'
ID 485932
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 044248-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.418) question?
Stock # R6091 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 119842821-119852660 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119847029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 618 (V618A)
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: V618A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: V618A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency 96% (54/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T G 2: 35,252,348 (GRCm39) T50P possibly damaging Het
Adad1 A G 3: 37,139,118 (GRCm39) E396G possibly damaging Het
Adamtsl3 T A 7: 82,114,829 (GRCm39) C232S probably damaging Het
AI606181 T C 19: 41,582,063 (GRCm39) S78P unknown Het
Amph T A 13: 19,309,293 (GRCm39) M457K probably benign Het
Ano1 A T 7: 144,223,171 (GRCm39) M174K probably benign Het
C3 T A 17: 57,528,967 (GRCm39) K632* probably null Het
Cep170 C T 1: 176,583,397 (GRCm39) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm39) V124A probably damaging Het
Chd9 A G 8: 91,761,691 (GRCm39) K2259E probably damaging Het
Col7a1 A G 9: 108,784,402 (GRCm39) T137A unknown Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Ddx42 A T 11: 106,125,796 (GRCm39) Q282L probably damaging Het
Fcgbp A G 7: 27,804,390 (GRCm39) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,844,532 (GRCm39) I203T probably benign Het
Frem1 A G 4: 82,818,796 (GRCm39) I2139T probably benign Het
Frmpd2 T C 14: 33,244,820 (GRCm39) V546A probably damaging Het
Gbp11 G T 5: 105,479,254 (GRCm39) T123N possibly damaging Het
Hs3st1 G A 5: 39,772,007 (GRCm39) P212L probably damaging Het
Ifnb1 T A 4: 88,440,813 (GRCm39) M67L probably benign Het
Ighv1-54 T C 12: 115,157,497 (GRCm39) N50S probably benign Het
Ikzf4 G A 10: 128,470,542 (GRCm39) T326I probably benign Het
Ints2 A T 11: 86,127,429 (GRCm39) V501E probably damaging Het
Mfsd1 C A 3: 67,507,270 (GRCm39) probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mrps11 G A 7: 78,438,466 (GRCm39) A73T possibly damaging Het
Mterf4 T C 1: 93,229,291 (GRCm39) E311G probably damaging Het
Mx2 A G 16: 97,347,635 (GRCm39) T176A probably damaging Het
Mycbp2 A C 14: 103,460,482 (GRCm39) L1495R probably damaging Het
Myo3b A G 2: 70,069,113 (GRCm39) T451A probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Nbeal1 A G 1: 60,220,715 (GRCm39) probably benign Het
Ncor1 A G 11: 62,310,443 (GRCm39) L201P probably damaging Het
Nfxl1 G T 5: 72,671,533 (GRCm39) L909I probably benign Het
Nr3c1 GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 18: 39,620,011 (GRCm39) probably benign Het
Or5aq1b T A 2: 86,901,705 (GRCm39) S258C probably benign Het
Plscr5 A G 9: 92,086,437 (GRCm39) T136A probably benign Het
Ppp1r3a G A 6: 14,719,339 (GRCm39) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Ryr1 T C 7: 28,771,398 (GRCm39) T2541A probably benign Het
Sall1 A G 8: 89,755,247 (GRCm39) L1244P probably damaging Het
Sec16a G A 2: 26,316,482 (GRCm39) H1673Y probably damaging Het
Slc22a19 A G 19: 7,688,428 (GRCm39) I44T probably benign Het
Snap91 T A 9: 86,721,681 (GRCm39) N53Y probably damaging Het
Sorcs1 T C 19: 50,276,539 (GRCm39) T338A possibly damaging Het
Taf6l T C 19: 8,755,920 (GRCm39) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm39) R487G probably damaging Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tnxb G A 17: 34,929,338 (GRCm39) V2794M probably damaging Het
Ush2a T G 1: 188,132,000 (GRCm39) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm39) I208F probably damaging Het
Vmn2r28 T A 7: 5,496,790 (GRCm39) I21F possibly damaging Het
Vmn2r93 A G 17: 18,545,958 (GRCm39) D610G probably benign Het
Wbp1 T C 6: 83,096,468 (GRCm39) S229G probably benign Het
Zbtb32 A G 7: 30,291,254 (GRCm39) S14P possibly damaging Het
Zfp24 A G 18: 24,147,269 (GRCm39) S348P 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
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
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'- CTCCCACTGGATTGGTTTGAGG -3'
(R):5'- TATCACTCGGCAGGAAGTGG -3'

Sequencing Primer
(F):5'- GGCTGGCAGAGATTCAGTC -3'
(R):5'- CTTTGAGACGCAGCCATTG -3'
Posted On 2017-08-16