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: 0.430) question?
Stock # R6091 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 120013755-120023598 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120017963 bp (GRCm38)
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: 35,362,336 (GRCm38) T50P possibly damaging Het
Adad1 A G 3: 37,084,969 (GRCm38) E396G possibly damaging Het
Adamtsl3 T A 7: 82,465,621 (GRCm38) C232S probably damaging Het
AI606181 T C 19: 41,593,624 (GRCm38) S78P unknown Het
Amph T A 13: 19,125,123 (GRCm38) M457K probably benign Het
Ano1 A T 7: 144,669,434 (GRCm38) M174K probably benign Het
C3 T A 17: 57,221,967 (GRCm38) K632* probably null Het
Cep170 C T 1: 176,755,831 (GRCm38) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm38) V124A probably damaging Het
Chd9 A G 8: 91,035,063 (GRCm38) K2259E probably damaging Het
Col7a1 A G 9: 108,955,334 (GRCm38) T137A unknown Het
Dcc C T 18: 71,809,114 (GRCm38) V311I probably benign Het
Ddx42 A T 11: 106,234,970 (GRCm38) Q282L probably damaging Het
Fcgbp A G 7: 28,104,965 (GRCm38) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,624,270 (GRCm38) I203T probably benign Het
Frem1 A G 4: 82,900,559 (GRCm38) I2139T probably benign Het
Frmpd2 T C 14: 33,522,863 (GRCm38) V546A probably damaging Het
Gbp11 G T 5: 105,331,388 (GRCm38) T123N possibly damaging Het
Hs3st1 G A 5: 39,614,664 (GRCm38) P212L probably damaging Het
Ifnb1 T A 4: 88,522,576 (GRCm38) M67L probably benign Het
Ighv1-54 T C 12: 115,193,877 (GRCm38) N50S probably benign Het
Ikzf4 G A 10: 128,634,673 (GRCm38) T326I probably benign Het
Ints2 A T 11: 86,236,603 (GRCm38) V501E probably damaging Het
Mfsd1 C A 3: 67,599,937 (GRCm38) probably null Het
Mroh2a GCCC GC 1: 88,232,257 (GRCm38) probably null Het
Mrps11 G A 7: 78,788,718 (GRCm38) A73T possibly damaging Het
Mterf4 T C 1: 93,301,569 (GRCm38) E311G probably damaging Het
Mx2 A G 16: 97,546,435 (GRCm38) T176A probably damaging Het
Mycbp2 A C 14: 103,223,046 (GRCm38) L1495R probably damaging Het
Myo3b A G 2: 70,238,769 (GRCm38) T451A probably benign Het
Myrfl T C 10: 116,849,206 (GRCm38) T90A probably benign Het
Nbeal1 A G 1: 60,181,556 (GRCm38) probably benign Het
Ncor1 A G 11: 62,419,617 (GRCm38) L201P probably damaging Het
Nfxl1 G T 5: 72,514,190 (GRCm38) L909I probably benign Het
Nr3c1 GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 18: 39,486,958 (GRCm38) probably benign Het
Olfr1107 T A 2: 87,071,361 (GRCm38) S258C probably benign Het
Plscr5 A G 9: 92,204,384 (GRCm38) T136A probably benign Het
Ppp1r3a G A 6: 14,719,340 (GRCm38) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Rbm47 G C 5: 66,026,283 (GRCm38) R326G probably damaging Het
Ryr1 T C 7: 29,071,973 (GRCm38) T2541A probably benign Het
Sall1 A G 8: 89,028,619 (GRCm38) L1244P probably damaging Het
Sec16a G A 2: 26,426,470 (GRCm38) H1673Y probably damaging Het
Slc22a19 A G 19: 7,711,063 (GRCm38) I44T probably benign Het
Snap91 T A 9: 86,839,628 (GRCm38) N53Y probably damaging Het
Sorcs1 T C 19: 50,288,101 (GRCm38) T338A possibly damaging Het
Taf6l T C 19: 8,778,556 (GRCm38) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm38) R487G probably damaging Het
Tfcp2 G T 15: 100,512,313 (GRCm38) T391N probably damaging Het
Tnxb G A 17: 34,710,364 (GRCm38) V2794M probably damaging Het
Ush2a T G 1: 188,399,803 (GRCm38) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm38) I208F probably damaging Het
Vmn2r28 T A 7: 5,493,791 (GRCm38) I21F possibly damaging Het
Vmn2r93 A G 17: 18,325,696 (GRCm38) D610G probably benign Het
Wbp1 T C 6: 83,119,487 (GRCm38) S229G probably benign Het
Zbtb32 A G 7: 30,591,829 (GRCm38) S14P possibly damaging Het
Zfp24 A G 18: 24,014,212 (GRCm38) S348P probably damaging Het
Other mutations in Xirp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01814:Xirp1 APN 9 120,017,919 (GRCm38) missense probably damaging 1.00
IGL02105:Xirp1 APN 9 120,016,997 (GRCm38) missense probably damaging 1.00
IGL03365:Xirp1 APN 9 120,018,539 (GRCm38) missense probably damaging 0.99
busybody UTSW 9 120,019,753 (GRCm38) missense possibly damaging 0.92
Buzzer UTSW 9 120,018,491 (GRCm38) missense probably damaging 1.00
cornflower UTSW 9 120,019,815 (GRCm38) start codon destroyed probably null 0.89
R0006:Xirp1 UTSW 9 120,017,454 (GRCm38) missense probably benign 0.01
R0320:Xirp1 UTSW 9 120,016,467 (GRCm38) missense probably benign 0.00
R0881:Xirp1 UTSW 9 120,018,417 (GRCm38) missense possibly damaging 0.69
R1220:Xirp1 UTSW 9 120,017,916 (GRCm38) missense possibly damaging 0.95
R1707:Xirp1 UTSW 9 120,018,775 (GRCm38) 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 9 120,018,591 (GRCm38) missense probably benign 0.00
R1983:Xirp1 UTSW 9 120,016,629 (GRCm38) nonsense probably null
R2064:Xirp1 UTSW 9 120,016,896 (GRCm38) missense probably benign 0.00
R2860:Xirp1 UTSW 9 120,019,815 (GRCm38) start codon destroyed probably null 0.89
R2860:Xirp1 UTSW 9 120,018,378 (GRCm38) missense probably benign 0.04
R2861:Xirp1 UTSW 9 120,018,378 (GRCm38) missense probably benign 0.04
R2861:Xirp1 UTSW 9 120,019,815 (GRCm38) start codon destroyed probably null 0.89
R2919:Xirp1 UTSW 9 120,018,701 (GRCm38) missense possibly damaging 0.81
R3013:Xirp1 UTSW 9 120,019,785 (GRCm38) missense probably benign
R3704:Xirp1 UTSW 9 120,016,907 (GRCm38) missense probably benign 0.04
R3898:Xirp1 UTSW 9 120,019,340 (GRCm38) missense probably benign 0.00
R3981:Xirp1 UTSW 9 120,017,744 (GRCm38) missense probably damaging 0.98
R4609:Xirp1 UTSW 9 120,016,506 (GRCm38) missense probably benign
R4613:Xirp1 UTSW 9 120,019,682 (GRCm38) missense probably damaging 1.00
R4660:Xirp1 UTSW 9 120,016,992 (GRCm38) missense probably damaging 1.00
R4703:Xirp1 UTSW 9 120,017,027 (GRCm38) missense probably damaging 1.00
R4825:Xirp1 UTSW 9 120,017,003 (GRCm38) missense possibly damaging 0.77
R4993:Xirp1 UTSW 9 120,018,792 (GRCm38) missense probably damaging 1.00
R5297:Xirp1 UTSW 9 120,019,602 (GRCm38) missense probably damaging 1.00
R5939:Xirp1 UTSW 9 120,018,509 (GRCm38) missense probably benign 0.01
R6290:Xirp1 UTSW 9 120,018,725 (GRCm38) missense probably benign
R6376:Xirp1 UTSW 9 120,018,491 (GRCm38) missense probably damaging 1.00
R6515:Xirp1 UTSW 9 120,016,917 (GRCm38) missense probably benign 0.00
R6616:Xirp1 UTSW 9 120,019,014 (GRCm38) missense probably damaging 0.98
R6976:Xirp1 UTSW 9 120,017,918 (GRCm38) missense probably damaging 1.00
R7165:Xirp1 UTSW 9 120,019,047 (GRCm38) missense probably damaging 1.00
R7471:Xirp1 UTSW 9 120,019,110 (GRCm38) nonsense probably null
R7744:Xirp1 UTSW 9 120,016,846 (GRCm38) missense possibly damaging 0.77
R7847:Xirp1 UTSW 9 120,019,753 (GRCm38) missense possibly damaging 0.92
R8010:Xirp1 UTSW 9 120,017,824 (GRCm38) missense probably benign 0.00
R8371:Xirp1 UTSW 9 120,019,433 (GRCm38) missense possibly damaging 0.78
R8868:Xirp1 UTSW 9 120,017,805 (GRCm38) missense probably benign
R9165:Xirp1 UTSW 9 120,018,236 (GRCm38) missense probably benign 0.05
R9342:Xirp1 UTSW 9 120,016,884 (GRCm38) missense probably benign
R9440:Xirp1 UTSW 9 120,018,137 (GRCm38) missense probably damaging 1.00
R9527:Xirp1 UTSW 9 120,018,492 (GRCm38) missense probably damaging 1.00
R9605:Xirp1 UTSW 9 120,018,208 (GRCm38) missense possibly damaging 0.77
R9629:Xirp1 UTSW 9 120,017,313 (GRCm38) missense probably benign 0.00
V8831:Xirp1 UTSW 9 120,016,907 (GRCm38) missense probably benign
X0025:Xirp1 UTSW 9 120,019,155 (GRCm38) 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 9 120,016,880 (GRCm38) missense probably damaging 0.96
Z1177:Xirp1 UTSW 9 120,017,154 (GRCm38) 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