Incidental Mutation 'R9383:Mipol1'
ID 710170
Institutional Source Beutler Lab
Gene Symbol Mipol1
Ensembl Gene ENSMUSG00000047022
Gene Name mirror-image polydactyly 1
Synonyms 6030439O22Rik, D12Ertd19e, 1700081O04Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9383 (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 G at 57352820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 53 (Y53C)
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
AA Change: Y53C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: Y53C

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000130447
AA Change: Y53C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: Y53C

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000145003
AA Change: Y53C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: Y53C

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000153137
AA Change: Y53C

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: Y53C

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A G 8: 95,661,162 (GRCm39) E124G Het
Atp1a2 T C 1: 172,107,334 (GRCm39) I729V probably benign Het
Ccn2 T G 10: 24,471,883 (GRCm39) V58G possibly damaging Het
Chd2 T A 7: 73,098,918 (GRCm39) E1467V probably null Het
Col6a5 T C 9: 105,803,110 (GRCm39) D1285G unknown Het
Coro7 A G 16: 4,452,888 (GRCm39) C287R probably damaging Het
Cpa3 T C 3: 20,283,045 (GRCm39) E134G probably benign Het
Csf3r C T 4: 125,937,239 (GRCm39) P708S possibly damaging Het
Defb30 T C 14: 63,273,463 (GRCm39) E49G probably benign Het
Dnah3 A T 7: 119,646,819 (GRCm39) I1070K probably benign Het
Dnm2 G A 9: 21,383,920 (GRCm39) V234M probably damaging Het
Drg2 T A 11: 60,350,287 (GRCm39) M82K probably benign Het
Dus2 G A 8: 106,776,950 (GRCm39) E312K probably benign Het
Efcab6 T C 15: 83,756,620 (GRCm39) E1240G possibly damaging Het
Ep400 T C 5: 110,833,351 (GRCm39) E1957G unknown Het
Gpnmb A G 6: 49,028,918 (GRCm39) S479G probably damaging Het
Gpr153 T C 4: 152,367,516 (GRCm39) S456P probably benign Het
Gprc5b A T 7: 118,575,761 (GRCm39) M388K probably damaging Het
H2-T23 T C 17: 36,343,227 (GRCm39) D50G possibly damaging Het
Hipk1 T C 3: 103,684,883 (GRCm39) E244G probably damaging Het
Malrd1 T A 2: 15,700,012 (GRCm39) C620S unknown Het
Maz G A 7: 126,624,083 (GRCm39) Q358* probably null Het
Mcc A T 18: 44,575,985 (GRCm39) I901N probably benign Het
Megf11 T G 9: 64,545,732 (GRCm39) C172G probably damaging Het
Nectin4 C T 1: 171,213,251 (GRCm39) T391I probably damaging Het
Nell2 A T 15: 95,282,957 (GRCm39) Y362N possibly damaging Het
Nphp4 T C 4: 152,628,918 (GRCm39) probably null Het
Nsun4 A G 4: 115,891,473 (GRCm39) V302A probably benign Het
Odf2 T A 2: 29,791,249 (GRCm39) L181H probably damaging Het
Opn1sw A G 6: 29,378,000 (GRCm39) S328P possibly damaging Het
Or8k30 T C 2: 86,338,854 (GRCm39) I17T probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Pik3c2g T A 6: 139,827,742 (GRCm39) Y712* probably null Het
Pkd1 C T 17: 24,794,900 (GRCm39) R2196C probably damaging Het
Pkd1l3 TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA 8: 110,350,601 (GRCm39) probably benign Het
Plekhm2 A T 4: 141,359,612 (GRCm39) M385K probably damaging Het
Pole T C 5: 110,438,892 (GRCm39) V164A possibly damaging Het
Prr19 T A 7: 25,002,335 (GRCm39) F11Y probably damaging Het
Prtg G T 9: 72,757,143 (GRCm39) L355F probably benign Het
Raph1 C A 1: 60,564,829 (GRCm39) M219I unknown Het
Rtkn2 A G 10: 67,839,094 (GRCm39) D140G possibly damaging Het
Serpina5 T C 12: 104,070,131 (GRCm39) S343P probably damaging Het
Slc1a1 A G 19: 28,889,125 (GRCm39) K466R probably benign Het
Slc43a1 G A 2: 84,690,506 (GRCm39) V518M probably damaging Het
Slc47a2 A G 11: 61,227,749 (GRCm39) L125P probably damaging Het
Slc4a7 C A 14: 14,766,803 (GRCm38) C585* probably null Het
Snx19 A G 9: 30,347,196 (GRCm39) E713G probably damaging Het
Tiam1 C T 16: 89,655,561 (GRCm39) V715M probably damaging Het
Tln2 T A 9: 67,278,043 (GRCm39) M322L probably benign Het
Top2a G A 11: 98,901,884 (GRCm39) R449* probably null Het
Trpv4 C A 5: 114,796,474 (GRCm39) probably benign Het
Vmn1r214 A C 13: 23,219,095 (GRCm39) R196S probably benign Het
Vmn1r43 A T 6: 89,846,552 (GRCm39) H311Q possibly damaging Het
Vmn1r54 A G 6: 90,247,009 (GRCm39) T308A probably benign Het
Zfand3 T A 17: 30,354,479 (GRCm39) Y99N probably benign Het
Zfp119b T C 17: 56,246,355 (GRCm39) Y277C probably damaging Het
Zfp345 G A 2: 150,314,503 (GRCm39) H345Y possibly damaging Het
Zyg11a T C 4: 108,046,926 (GRCm39) E516G 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
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
Predicted Primers PCR Primer
(F):5'- CCGGAGTCTCTTTTGGGATCA -3'
(R):5'- ACAACAGAGAAAACTGGAACTGT -3'

Sequencing Primer
(F):5'- TCCCATTGTAAATTGATATCTGTACG -3'
(R):5'- CTTGCTCTGAGAATTTCCAA -3'
Posted On 2022-04-18