Incidental Mutation 'R0271:Mipol1'
ID 35316
Institutional Source Beutler Lab
Gene Symbol Mipol1
Ensembl Gene ENSMUSG00000047022
Gene Name mirror-image polydactyly 1
Synonyms 6030439O22Rik, D12Ertd19e, 1700081O04Rik
MMRRC Submission 038497-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0271 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 57277211-57504027 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 57507740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123498] [ENSMUST00000130447] [ENSMUST00000145003] [ENSMUST00000153137]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000123498
SMART Domains Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000130447
SMART Domains Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000145003
SMART Domains Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000153137
AA Change: F417L
SMART Domains Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: F417L

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik A G 11: 70,507,474 (GRCm39) Q173R possibly damaging Het
Ampd2 C T 3: 107,994,032 (GRCm39) probably benign Het
Ankrd17 T C 5: 90,402,658 (GRCm39) S1467G possibly damaging Het
Arhgap31 T G 16: 38,422,872 (GRCm39) S1065R possibly damaging Het
Arhgef19 G T 4: 140,977,918 (GRCm39) M542I probably benign Het
C7 T C 15: 5,044,862 (GRCm39) D392G possibly damaging Het
Ccdc138 G A 10: 58,411,645 (GRCm39) C671Y probably damaging Het
Cdh8 A G 8: 99,838,347 (GRCm39) S498P possibly damaging Het
Cpb2 T A 14: 75,495,149 (GRCm39) probably null Het
Cwc22 A C 2: 77,751,202 (GRCm39) N389K probably benign Het
Dgkb T A 12: 38,278,025 (GRCm39) L550Q probably damaging Het
Dip2c A G 13: 9,665,811 (GRCm39) R950G probably damaging Het
Eml6 A G 11: 29,798,949 (GRCm39) V437A possibly damaging Het
Fanca T C 8: 123,999,180 (GRCm39) probably benign Het
Fgd2 C G 17: 29,585,982 (GRCm39) L189V possibly damaging Het
Foxred2 A C 15: 77,827,590 (GRCm39) S590A possibly damaging Het
Gm1110 A G 9: 26,831,962 (GRCm39) F63S probably damaging Het
Gm14496 A T 2: 181,637,747 (GRCm39) M274L probably benign Het
Gm7008 T A 12: 40,273,559 (GRCm39) probably benign Het
Gm9922 T A 14: 101,966,989 (GRCm39) probably benign Het
Gtf3c3 A T 1: 54,467,971 (GRCm39) M222K possibly damaging Het
Hspa1b A G 17: 35,177,808 (GRCm39) V59A probably benign Het
Impg1 T C 9: 80,294,161 (GRCm39) probably benign Het
Khdc4 T C 3: 88,593,636 (GRCm39) probably benign Het
Lpcat4 T A 2: 112,073,590 (GRCm39) probably null Het
Mrpl37 C A 4: 106,923,658 (GRCm39) R112L possibly damaging Het
Myo18b T C 5: 112,957,551 (GRCm39) N1471D possibly damaging Het
Nes G A 3: 87,885,949 (GRCm39) E1359K possibly damaging Het
Nipbl A T 15: 8,391,221 (GRCm39) V251E possibly damaging Het
Nlrp1b T C 11: 71,052,591 (GRCm39) I946V possibly damaging Het
Obscn T G 11: 58,947,568 (GRCm39) probably benign Het
Or10q1b A T 19: 13,682,499 (GRCm39) T103S probably benign Het
Or4a2 T A 2: 89,248,502 (GRCm39) Y85F probably benign Het
Or51q1 T A 7: 103,628,837 (GRCm39) I146K possibly damaging Het
Or5m12 A T 2: 85,734,633 (GRCm39) M255K possibly damaging Het
Pck2 T C 14: 55,782,041 (GRCm39) probably null Het
Pcsk9 A G 4: 106,306,246 (GRCm39) probably benign Het
Phyhd1 A T 2: 30,159,834 (GRCm39) Q56L probably benign Het
Plxnc1 C T 10: 94,673,780 (GRCm39) G1001S probably null Het
Prss52 T C 14: 64,351,127 (GRCm39) V304A probably benign Het
Prss55 C T 14: 64,313,056 (GRCm39) G276D probably benign Het
Pzp A T 6: 128,496,477 (GRCm39) Y252N probably damaging Het
Rad1 T C 15: 10,490,543 (GRCm39) probably null Het
Ripply3 A T 16: 94,136,616 (GRCm39) E92D possibly damaging Het
Rpp30 T A 19: 36,081,803 (GRCm39) D255E probably benign Het
Rsad1 T C 11: 94,439,290 (GRCm39) probably benign Het
Serpini2 A G 3: 75,153,885 (GRCm39) M358T probably damaging Het
Slc35a1 T A 4: 34,664,125 (GRCm39) E331V probably benign Het
Slc38a7 A G 8: 96,572,506 (GRCm39) F179L probably damaging Het
Stmn4 C T 14: 66,593,732 (GRCm39) Q42* probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tab2 G A 10: 7,794,922 (GRCm39) A520V probably benign Het
Tcp10a A G 17: 7,598,555 (GRCm39) I162M probably benign Het
Tmprss13 A G 9: 45,244,986 (GRCm39) probably benign Het
Tnfrsf14 A G 4: 155,011,054 (GRCm39) probably null Het
Tpx2 A G 2: 152,709,287 (GRCm39) probably benign Het
Vmn2r105 T A 17: 20,454,965 (GRCm39) N57I probably damaging Het
Wars1 C T 12: 108,841,119 (GRCm39) V220I probably benign Het
Washc1 T A 17: 66,423,714 (GRCm39) D212E possibly damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr43 A G 17: 71,933,820 (GRCm39) D139G probably benign Het
Zfp235 A T 7: 23,836,556 (GRCm39) H34L possibly damaging Het
Zkscan16 G A 4: 58,952,391 (GRCm39) V230I probably benign Het
Other mutations in Mipol1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Mipol1 APN 12 57,354,139 (GRCm39) splice site probably benign
IGL01139:Mipol1 APN 12 57,352,821 (GRCm39) nonsense probably null
IGL02679:Mipol1 APN 12 57,352,829 (GRCm39) missense possibly damaging 0.84
IGL03109:Mipol1 APN 12 57,411,010 (GRCm39) missense probably benign 0.20
R0001:Mipol1 UTSW 12 57,507,625 (GRCm39) splice site probably benign
R0220:Mipol1 UTSW 12 57,503,936 (GRCm39) missense probably damaging 1.00
R0284:Mipol1 UTSW 12 57,503,855 (GRCm39) missense probably damaging 0.98
R0496:Mipol1 UTSW 12 57,503,963 (GRCm39) missense probably damaging 0.99
R0538:Mipol1 UTSW 12 57,461,197 (GRCm39) critical splice donor site probably null
R1082:Mipol1 UTSW 12 57,372,402 (GRCm39) missense probably damaging 0.98
R1552:Mipol1 UTSW 12 57,352,874 (GRCm39) missense possibly damaging 0.86
R1558:Mipol1 UTSW 12 57,379,127 (GRCm39) missense probably damaging 1.00
R1928:Mipol1 UTSW 12 57,379,205 (GRCm39) missense probably damaging 1.00
R2104:Mipol1 UTSW 12 57,352,842 (GRCm39) splice site probably null
R2495:Mipol1 UTSW 12 57,507,776 (GRCm39) splice site probably benign
R3723:Mipol1 UTSW 12 57,503,878 (GRCm39) missense probably damaging 1.00
R4431:Mipol1 UTSW 12 57,350,310 (GRCm39) missense possibly damaging 0.58
R4447:Mipol1 UTSW 12 57,399,534 (GRCm39) intron probably benign
R4654:Mipol1 UTSW 12 57,352,918 (GRCm39) missense probably benign 0.22
R4847:Mipol1 UTSW 12 57,350,282 (GRCm39) missense probably damaging 0.99
R4851:Mipol1 UTSW 12 57,379,087 (GRCm39) missense probably damaging 1.00
R5113:Mipol1 UTSW 12 57,543,285 (GRCm39) missense probably benign 0.36
R5668:Mipol1 UTSW 12 57,372,346 (GRCm39) missense possibly damaging 0.48
R6535:Mipol1 UTSW 12 57,352,886 (GRCm39) missense possibly damaging 0.95
R7172:Mipol1 UTSW 12 57,372,321 (GRCm39) missense possibly damaging 0.95
R7191:Mipol1 UTSW 12 57,503,852 (GRCm39) missense probably benign 0.01
R7560:Mipol1 UTSW 12 57,352,859 (GRCm39) missense possibly damaging 0.94
R8508:Mipol1 UTSW 12 57,352,874 (GRCm39) missense possibly damaging 0.86
R8752:Mipol1 UTSW 12 57,372,367 (GRCm39) missense probably damaging 1.00
R8772:Mipol1 UTSW 12 57,372,418 (GRCm39) missense probably benign 0.23
R8861:Mipol1 UTSW 12 57,352,802 (GRCm39) missense probably benign 0.00
R8928:Mipol1 UTSW 12 57,507,651 (GRCm39) missense probably benign 0.00
R9011:Mipol1 UTSW 12 57,503,865 (GRCm39) missense probably benign 0.03
R9250:Mipol1 UTSW 12 57,461,169 (GRCm39) missense probably damaging 1.00
R9383:Mipol1 UTSW 12 57,352,820 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCCATCACAATGAGCTGCTCTAAA -3'
(R):5'- TCAGAGAGGGTACTATGGCGTAAAACAA -3'

Sequencing Primer
(F):5'- GCTGCTCTAAAGCATACATAAGG -3'
(R):5'- gtgtgtgagtgttttgccc -3'
Posted On 2013-05-09