Incidental Mutation 'R6535:Mipol1'
ID 520343
Institutional Source Beutler Lab
Gene Symbol Mipol1
Ensembl Gene ENSMUSG00000047022
Gene Name mirror-image polydactyly 1
Synonyms 6030439O22Rik, D12Ertd19e, 1700081O04Rik
MMRRC Submission 044661-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6535 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 57277211-57504027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 57352886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 75 (Q75P)
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 possibly damaging
Transcript: ENSMUST00000123498
AA Change: Q75P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: Q75P

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000130447
AA Change: Q75P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: Q75P

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136006
Predicted Effect possibly damaging
Transcript: ENSMUST00000145003
AA Change: Q75P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: Q75P

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150292
Predicted Effect possibly damaging
Transcript: ENSMUST00000153137
AA Change: Q75P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: Q75P

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153755
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 G A 17: 43,750,920 (GRCm39) S495N probably benign Het
Ank3 G T 10: 69,713,684 (GRCm39) A448S probably damaging Het
Apobec3 A G 15: 79,781,950 (GRCm39) *47W probably null Het
B4gat1 T C 19: 5,089,558 (GRCm39) V185A possibly damaging Het
Cers1 T A 8: 70,782,804 (GRCm39) V58D probably damaging Het
Chrm1 T A 19: 8,656,437 (GRCm39) Y381N possibly damaging Het
Cpne6 A T 14: 55,751,122 (GRCm39) E177V probably benign Het
Cpt1a T A 19: 3,415,788 (GRCm39) probably null Het
Ctsq A T 13: 61,183,140 (GRCm39) I334N probably damaging Het
Dennd6b A G 15: 89,070,570 (GRCm39) L400P probably damaging Het
Fam135b A G 15: 71,493,924 (GRCm39) S2P probably damaging Het
Hip1 T C 5: 135,457,351 (GRCm39) probably null Het
Lama2 A C 10: 26,980,127 (GRCm39) L1896R probably damaging Het
Ly6g6g T C 15: 74,644,074 (GRCm39) S81G probably damaging Het
Macf1 A T 4: 123,365,728 (GRCm39) V3011D possibly damaging Het
Macrod1 A G 19: 7,034,515 (GRCm39) D86G probably damaging Het
Mettl8 G T 2: 70,803,733 (GRCm39) H185N possibly damaging Het
Pi4ka C T 16: 17,118,900 (GRCm39) V125M probably damaging Het
Pole A C 5: 110,472,673 (GRCm39) Y1618S probably damaging Het
Prrc2a A G 17: 35,381,241 (GRCm39) V21A unknown Het
Rhbdl1 A T 17: 26,054,799 (GRCm39) Y111* probably null Het
Sbk3 A C 7: 4,972,840 (GRCm39) M110R possibly damaging Het
Scn8a G A 15: 100,857,588 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,190 (GRCm39) S10P probably damaging Het
Tshz3 T C 7: 36,468,214 (GRCm39) S68P probably damaging Het
Vmn1r88 C T 7: 12,912,112 (GRCm39) T156I probably benign Het
Wrn T C 8: 33,826,131 (GRCm39) H177R probably damaging 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
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
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'- ACCGGAGTCTCTTTTGGGATC -3'
(R):5'- CTAAATCATACCTGGATGACAAAGC -3'

Sequencing Primer
(F):5'- TCCCATTGTAAATTGATATCTGTACG -3'
(R):5'- TCATACCTGGATGACAAAGCAACAC -3'
Posted On 2018-06-06