Incidental Mutation 'R4851:Mipol1'
ID 373567
Institutional Source Beutler Lab
Gene Symbol Mipol1
Ensembl Gene ENSMUSG00000047022
Gene Name mirror-image polydactyly 1
Synonyms 6030439O22Rik, D12Ertd19e, 1700081O04Rik
MMRRC Submission 042463-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4851 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 57277211-57504027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57379087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 182 (L182I)
Ref Sequence ENSEMBL: ENSMUSP00000117005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123498] [ENSMUST00000130447] [ENSMUST00000145003] [ENSMUST00000153137]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000123498
AA Change: L182I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: L182I

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128945
Predicted Effect probably damaging
Transcript: ENSMUST00000130447
AA Change: L182I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: L182I

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000145003
AA Change: L182I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: L182I

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150292
Predicted Effect probably damaging
Transcript: ENSMUST00000153137
AA Change: L182I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: L182I

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153439
Meta Mutation Damage Score 0.2915 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (99/99)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,433,890 (GRCm39) R4148S probably benign Het
Acoxl T A 2: 127,886,311 (GRCm39) L182Q possibly damaging Het
Aldh7a1 T C 18: 56,665,088 (GRCm39) T364A possibly damaging Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Arid1a A G 4: 133,408,672 (GRCm39) I1945T unknown Het
Arsk C T 13: 76,213,398 (GRCm39) probably null Het
Atad2b G A 12: 4,993,251 (GRCm39) G257S probably benign Het
Best1 C A 19: 9,969,062 (GRCm39) R218L probably damaging Het
Cacna1e A T 1: 154,312,300 (GRCm39) probably null Het
Cdh13 C T 8: 119,484,129 (GRCm39) T130I possibly damaging Het
Cela2a T C 4: 141,552,902 (GRCm39) E25G probably benign Het
Cgnl1 T A 9: 71,632,314 (GRCm39) I346F probably damaging Het
Chil6 C T 3: 106,297,244 (GRCm39) G299D possibly damaging Het
Cic G A 7: 24,972,327 (GRCm39) R686H probably damaging Het
Cnpy1 T C 5: 28,450,738 (GRCm39) I23V probably benign Het
Col6a3 T A 1: 90,707,011 (GRCm39) Y2034F unknown Het
Coq10b T C 1: 55,110,903 (GRCm39) Y224H probably benign Het
Cryge G T 1: 65,090,211 (GRCm39) probably benign Het
Cyb5rl T G 4: 106,941,510 (GRCm39) S252A probably benign Het
Cyp2ab1 T A 16: 20,133,814 (GRCm39) R125S probably damaging Het
Dclk1 G A 3: 55,387,811 (GRCm39) G86R probably damaging Het
Dmtn A G 14: 70,842,254 (GRCm39) M382T probably damaging Het
Dnaaf8 A G 16: 4,794,138 (GRCm39) noncoding transcript Het
Dnah12 T A 14: 26,437,784 (GRCm39) L471* probably null Het
Dock10 A T 1: 80,526,874 (GRCm39) S782T probably benign Het
Egfem1 C A 3: 29,206,032 (GRCm39) H90N possibly damaging Het
Ephb6 T A 6: 41,595,079 (GRCm39) W698R probably benign Het
Exoc4 T A 6: 33,895,343 (GRCm39) C787S probably damaging Het
Exosc8 A T 3: 54,639,523 (GRCm39) probably benign Het
Galc T A 12: 98,193,533 (GRCm39) Q352L probably benign Het
Galns A G 8: 123,327,272 (GRCm39) Y167H probably damaging Het
Glb1l T C 1: 75,185,528 (GRCm39) probably benign Het
Gm6185 A T 1: 161,033,750 (GRCm39) noncoding transcript Het
Gm7694 T C 1: 170,128,794 (GRCm39) N245S probably benign Het
Gmcl1 T G 6: 86,681,538 (GRCm39) K385N possibly damaging Het
Gramd1c A T 16: 43,810,200 (GRCm39) W463R probably damaging Het
Gtpbp8 C G 16: 44,566,433 (GRCm39) A90P probably benign Het
H2bc11 G T 13: 22,227,421 (GRCm39) probably benign Het
Hcar1 T C 5: 124,016,731 (GRCm39) E320G probably benign Het
Hhatl T C 9: 121,618,077 (GRCm39) D226G probably damaging Het
Hoxc5 T A 15: 102,923,801 (GRCm39) I199N probably damaging Het
Iars2 T C 1: 185,059,845 (GRCm39) D121G probably damaging Het
Il5ra T A 6: 106,715,432 (GRCm39) H134L probably benign Het
Isl2 T A 9: 55,452,271 (GRCm39) I281N possibly damaging Het
Kcnk13 T C 12: 99,932,383 (GRCm39) F60L probably damaging Het
Kdelr3 C T 15: 79,409,066 (GRCm39) T85M possibly damaging Het
Kdf1 A T 4: 133,255,676 (GRCm39) H131L probably damaging Het
Morc1 T G 16: 48,381,980 (GRCm39) S513R probably benign Het
Moxd2 A T 6: 40,855,756 (GRCm39) L611H probably damaging Het
Mpped2 T C 2: 106,529,724 (GRCm39) probably benign Het
Mrpl51 T C 6: 125,170,270 (GRCm39) V92A probably benign Het
Mrps26 G A 2: 130,405,681 (GRCm39) probably benign Het
Mrps5 A G 2: 127,432,665 (GRCm39) T29A probably benign Het
Mustn1 A G 14: 30,601,517 (GRCm39) probably benign Het
Ncor2 G A 5: 125,110,431 (GRCm39) P858S possibly damaging Het
Nfasc A G 1: 132,529,759 (GRCm39) F807S probably damaging Het
Nup50 G A 15: 84,823,912 (GRCm39) V422I probably benign Het
Or10x1 T A 1: 174,196,562 (GRCm39) F26L probably benign Het
Or13a25 A T 7: 140,247,226 (GRCm39) M2L probably benign Het
Or1e25 A T 11: 73,493,883 (GRCm39) H159L probably damaging Het
Or2ag13 A T 7: 106,473,221 (GRCm39) V77D probably damaging Het
Or3a1d C A 11: 74,237,769 (GRCm39) V214L probably benign Het
Or4c107 A G 2: 88,788,930 (GRCm39) N40S probably damaging Het
Or8b44 T A 9: 38,410,319 (GRCm39) M118K probably damaging Het
Or8u9 T A 2: 86,002,015 (GRCm39) I49F probably damaging Het
Osbpl8 T A 10: 111,040,661 (GRCm39) M1K probably null Het
Pcdhb22 A C 18: 37,652,087 (GRCm39) D185A possibly damaging Het
Pcdhga8 G T 18: 37,949,457 (GRCm39) R291L probably damaging Het
Saysd1 A T 14: 20,127,672 (GRCm39) L84Q possibly damaging Het
Slc41a1 T C 1: 131,758,508 (GRCm39) I50T probably benign Het
Smg7 G A 1: 152,720,020 (GRCm39) P834S probably benign Het
Speer4a1 C T 5: 26,243,210 (GRCm39) V92M probably damaging Het
Srf T C 17: 46,860,400 (GRCm39) T461A probably benign Het
Ssu72 A G 4: 155,800,053 (GRCm39) D72G possibly damaging Het
Suco T C 1: 161,661,761 (GRCm39) E890G probably damaging Het
Tenm3 A G 8: 48,763,656 (GRCm39) probably null Het
Tm6sf1 A G 7: 81,515,091 (GRCm39) E7G probably null Het
Tm9sf2 A G 14: 122,378,616 (GRCm39) K240R probably benign Het
Tmem52 T A 4: 155,554,825 (GRCm39) Y149* probably null Het
Tpgs2 A T 18: 25,284,305 (GRCm39) Y68N possibly damaging Het
Vmn1r205 T A 13: 22,777,074 (GRCm39) E9D probably benign Het
Vmn2r32 A G 7: 7,482,953 (GRCm39) V7A possibly damaging Het
Vmn2r80 T C 10: 79,030,156 (GRCm39) Y661H possibly damaging Het
Vps39 G A 2: 120,152,312 (GRCm39) probably benign Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp641 T A 15: 98,186,598 (GRCm39) S342C probably damaging Het
Zfp961 T C 8: 72,722,847 (GRCm39) 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
R0271:Mipol1 UTSW 12 57,507,740 (GRCm39) unclassified probably benign
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
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'- AGTGGGTTTCAAGAACTAAGATGTG -3'
(R):5'- ATAGGCCCTGTGCACTTCTC -3'

Sequencing Primer
(F):5'- TGTGGGAAAAAGAAGAATTGACACAC -3'
(R):5'- CTCTGGTAGAAGCAGTTACCTGAGAC -3'
Posted On 2016-03-01