Incidental Mutation 'R8861:Mipol1'
ID 675674
Institutional Source Beutler Lab
Gene Symbol Mipol1
Ensembl Gene ENSMUSG00000047022
Gene Name mirror-image polydactyly 1
Synonyms 1700081O04Rik, 6030439O22Rik, D12Ertd19e
MMRRC Submission 068740-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8861 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 57230427-57497199 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57306016 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 47 (V47A)
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: V47A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: V47A

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: V47A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: V47A

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: V47A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: V47A

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: V47A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: V47A

DomainStartEndE-ValueType
coiled coil region 70 127 N/A INTRINSIC
Blast:HNHc 220 265 2e-15 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik T C 5: 139,410,887 (GRCm38) probably benign Het
5430419D17Rik A T 7: 131,259,961 (GRCm38) K1168* probably null Het
Acly A G 11: 100,484,598 (GRCm38) probably null Het
Agap2 T G 10: 127,090,514 (GRCm38) V896G unknown Het
Agtpbp1 T C 13: 59,495,473 (GRCm38) Y724C probably damaging Het
Angpt4 A G 2: 151,925,453 (GRCm38) N135D probably damaging Het
Aox3 T A 1: 58,150,301 (GRCm38) I387K probably benign Het
Bysl T C 17: 47,606,959 (GRCm38) E103G probably benign Het
Chmp5 T A 4: 40,964,608 (GRCm38) V208E probably damaging Het
Chst9 T G 18: 15,452,573 (GRCm38) H311P possibly damaging Het
Dcaf11 C A 14: 55,564,498 (GRCm38) Y235* probably null Het
Dlx5 A C 6: 6,878,233 (GRCm38) S266A probably benign Het
Dnah7b T A 1: 46,241,076 (GRCm38) S2722T possibly damaging Het
Drc1 G A 5: 30,364,495 (GRCm38) probably benign Het
En2 T A 5: 28,166,735 (GRCm38) I70N probably damaging Het
Fam72a T C 1: 131,538,918 (GRCm38) Y147H possibly damaging Het
Fermt2 A T 14: 45,460,009 (GRCm38) F628L possibly damaging Het
Fkrp T A 7: 16,810,824 (GRCm38) D371V probably damaging Het
Fmn1 T C 2: 113,364,804 (GRCm38) L283P unknown Het
Gm13271 G A 4: 88,755,129 (GRCm38) V88I probably benign Het
Gnmt G A 17: 46,726,692 (GRCm38) T120M probably damaging Het
H2-T22 A T 17: 36,042,398 (GRCm38) V10D possibly damaging Het
Hbs1l T A 10: 21,345,064 (GRCm38) probably benign Het
Ick T A 9: 78,164,562 (GRCm38) N505K probably benign Het
Igf2bp3 A C 6: 49,105,616 (GRCm38) M344R possibly damaging Het
Kdm1b T C 13: 47,064,106 (GRCm38) V347A probably benign Het
Klra17 A T 6: 129,874,902 (GRCm38) S2R probably damaging Het
Klri1 A G 6: 129,698,201 (GRCm38) S199P probably benign Het
Ltk T A 2: 119,759,613 (GRCm38) Q44L probably benign Het
Map3k20 C A 2: 72,389,467 (GRCm38) probably benign Het
Matn4 A T 2: 164,392,905 (GRCm38) Y549N Het
Mcoln3 T A 3: 146,139,404 (GRCm38) F452I probably damaging Het
Msh4 A G 3: 153,901,468 (GRCm38) L145S probably benign Het
Myh11 A T 16: 14,246,782 (GRCm38) I224N Het
Nat8f1 A G 6: 85,910,462 (GRCm38) L172P probably damaging Het
Ncoa7 T A 10: 30,691,368 (GRCm38) K438I probably benign Het
Nr1h3 T G 2: 91,193,681 (GRCm38) probably benign Het
Nuggc T C 14: 65,610,035 (GRCm38) probably null Het
Olfr1036 A G 2: 86,075,616 (GRCm38) N292S probably damaging Het
Olfr1271 T C 2: 90,266,459 (GRCm38) probably benign Het
Olfr871 A T 9: 20,213,081 (GRCm38) H244L probably damaging Het
Pfn4 T A 12: 4,775,456 (GRCm38) Y98N probably benign Het
Ppp6r2 T G 15: 89,259,165 (GRCm38) C172G probably damaging Het
Ptprk A G 10: 28,570,190 (GRCm38) D979G probably damaging Het
Rbm28 A G 6: 29,152,285 (GRCm38) I329T probably damaging Het
Rnf144a T C 12: 26,339,344 (GRCm38) T33A probably damaging Het
Rnf145 A G 11: 44,555,157 (GRCm38) T273A probably damaging Het
Rnf213 G A 11: 119,442,236 (GRCm38) R2758H Het
Slc22a19 A T 19: 7,682,959 (GRCm38) M362K possibly damaging Het
Slc29a4 G C 5: 142,718,825 (GRCm38) R374P probably damaging Het
Slc43a1 A G 2: 84,861,404 (GRCm38) T528A possibly damaging Het
Sp3 A T 2: 72,971,286 (GRCm38) Y172N probably damaging Het
Srpr T A 9: 35,215,749 (GRCm38) M573K probably benign Het
Steap4 A G 5: 7,975,672 (GRCm38) I78V probably benign Het
Sulf2 A G 2: 166,132,686 (GRCm38) L26P possibly damaging Het
Taok2 T C 7: 126,871,443 (GRCm38) K738E probably damaging Het
Tcea3 G A 4: 136,254,499 (GRCm38) R56H probably damaging Het
Tcf20 A G 15: 82,852,525 (GRCm38) V1575A probably damaging Het
Togaram1 T G 12: 64,980,632 (GRCm38) S798R possibly damaging Het
Other mutations in Mipol1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Mipol1 APN 12 57,307,353 (GRCm38) splice site probably benign
IGL01139:Mipol1 APN 12 57,306,035 (GRCm38) nonsense probably null
IGL02679:Mipol1 APN 12 57,306,043 (GRCm38) missense possibly damaging 0.84
IGL03109:Mipol1 APN 12 57,364,224 (GRCm38) missense probably benign 0.20
R0001:Mipol1 UTSW 12 57,460,839 (GRCm38) splice site probably benign
R0220:Mipol1 UTSW 12 57,457,150 (GRCm38) missense probably damaging 1.00
R0271:Mipol1 UTSW 12 57,460,954 (GRCm38) unclassified probably benign
R0284:Mipol1 UTSW 12 57,457,069 (GRCm38) missense probably damaging 0.98
R0496:Mipol1 UTSW 12 57,457,177 (GRCm38) missense probably damaging 0.99
R0538:Mipol1 UTSW 12 57,414,411 (GRCm38) critical splice donor site probably null
R1082:Mipol1 UTSW 12 57,325,616 (GRCm38) missense probably damaging 0.98
R1552:Mipol1 UTSW 12 57,306,088 (GRCm38) missense possibly damaging 0.86
R1558:Mipol1 UTSW 12 57,332,341 (GRCm38) missense probably damaging 1.00
R1928:Mipol1 UTSW 12 57,332,419 (GRCm38) missense probably damaging 1.00
R2104:Mipol1 UTSW 12 57,306,056 (GRCm38) splice site probably null
R2495:Mipol1 UTSW 12 57,460,990 (GRCm38) splice site probably benign
R3723:Mipol1 UTSW 12 57,457,092 (GRCm38) missense probably damaging 1.00
R4431:Mipol1 UTSW 12 57,303,524 (GRCm38) missense possibly damaging 0.58
R4447:Mipol1 UTSW 12 57,352,748 (GRCm38) intron probably benign
R4654:Mipol1 UTSW 12 57,306,132 (GRCm38) missense probably benign 0.22
R4847:Mipol1 UTSW 12 57,303,496 (GRCm38) missense probably damaging 0.99
R4851:Mipol1 UTSW 12 57,332,301 (GRCm38) missense probably damaging 1.00
R5113:Mipol1 UTSW 12 57,496,499 (GRCm38) missense probably benign 0.36
R5668:Mipol1 UTSW 12 57,325,560 (GRCm38) missense possibly damaging 0.48
R6535:Mipol1 UTSW 12 57,306,100 (GRCm38) missense possibly damaging 0.95
R7172:Mipol1 UTSW 12 57,325,535 (GRCm38) missense possibly damaging 0.95
R7191:Mipol1 UTSW 12 57,457,066 (GRCm38) missense probably benign 0.01
R7560:Mipol1 UTSW 12 57,306,073 (GRCm38) missense possibly damaging 0.94
R8508:Mipol1 UTSW 12 57,306,088 (GRCm38) missense possibly damaging 0.86
R8752:Mipol1 UTSW 12 57,325,581 (GRCm38) missense probably damaging 1.00
R8772:Mipol1 UTSW 12 57,325,632 (GRCm38) missense probably benign 0.23
R8928:Mipol1 UTSW 12 57,460,865 (GRCm38) missense probably benign 0.00
R9011:Mipol1 UTSW 12 57,457,079 (GRCm38) missense probably benign 0.03
R9250:Mipol1 UTSW 12 57,414,383 (GRCm38) missense probably damaging 1.00
R9383:Mipol1 UTSW 12 57,306,034 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGGAGTCTCTTTTGGGATCACT -3'
(R):5'- ACAACAGAGAAAACTGGAACTGT -3'

Sequencing Primer
(F):5'- AGTCTCTTTTGGGATCACTGTGTG -3'
(R):5'- CTTGCTCTGAGAATTTCCAA -3'
Posted On 2021-07-15