Incidental Mutation 'IGL02975:Ankmy2'
ID406342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankmy2
Ensembl Gene ENSMUSG00000036188
Gene Nameankyrin repeat and MYND domain containing 2
Synonyms
Accession Numbers

Genbank: NM_146033; MGI: 2144755

Is this an essential gene? Possibly essential (E-score: 0.712) question?
Stock #IGL02975
Quality Score
Status
Chromosome12
Chromosomal Location36157114-36197291 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 36193774 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 329 (S329R)
Ref Sequence ENSEMBL: ENSMUSP00000039484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041640]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041640
AA Change: S329R

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039484
Gene: ENSMUSG00000036188
AA Change: S329R

DomainStartEndE-ValueType
ANK 45 74 1.1e-6 SMART
ANK 79 108 7.83e-3 SMART
ANK 112 143 9.33e2 SMART
Pfam:zf-MYND 320 357 6.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220788
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,233,925 D326G possibly damaging Het
Ago4 C T 4: 126,512,519 probably null Het
Ank A G 15: 27,467,001 probably benign Het
Aox1 A G 1: 58,068,391 E608G probably damaging Het
Btbd11 A G 10: 85,631,343 I721V probably benign Het
Car1 G A 3: 14,777,822 L48F probably benign Het
Cct8 A G 16: 87,486,230 probably benign Het
Clasp1 A T 1: 118,462,547 T154S probably damaging Het
Clca4a A C 3: 144,963,769 I340M possibly damaging Het
Cnksr3 C T 10: 7,138,354 probably null Het
Cntrob T C 11: 69,319,373 T265A possibly damaging Het
Ddx5 T C 11: 106,781,885 I605V probably benign Het
Eif3i A G 4: 129,595,312 Y70H probably damaging Het
Epb41l5 T C 1: 119,579,081 probably benign Het
Fah A T 7: 84,601,079 S90T probably benign Het
Fat2 T A 11: 55,270,194 M3237L probably benign Het
Fbxw8 A G 5: 118,077,695 Y417H probably benign Het
Fmnl2 C A 2: 53,101,482 F336L probably benign Het
Gli3 A G 13: 15,724,568 R847G probably damaging Het
Gm17509 T C 13: 117,220,772 probably benign Het
Gm4846 T A 1: 166,483,880 Y470F possibly damaging Het
Gm7461 T C 8: 4,677,847 noncoding transcript Het
Gpatch4 A T 3: 88,054,436 N134I possibly damaging Het
Grina A G 15: 76,248,985 Y251C probably damaging Het
Gsn A G 2: 35,304,654 D654G probably benign Het
Hyal5 A G 6: 24,891,452 T422A probably benign Het
Iars T A 13: 49,704,849 I377N probably damaging Het
Ints3 A T 3: 90,401,837 probably benign Het
Kdm4b G A 17: 56,375,996 probably null Het
Kyat1 A G 2: 30,186,675 S276P probably damaging Het
Lrrc1 A G 9: 77,452,647 C288R probably damaging Het
Mst1r T A 9: 107,913,180 M664K probably benign Het
Neb A T 2: 52,298,867 I817N probably damaging Het
Nudt6 C A 3: 37,419,518 G18V probably damaging Het
Olfr1302 T A 2: 111,780,921 Y200* probably null Het
Olfr517 G A 7: 108,868,855 Q100* probably null Het
Olfr57 T C 10: 79,035,033 V79A possibly damaging Het
Pde1c A G 6: 56,158,936 I341T probably damaging Het
Pgm5 T C 19: 24,834,848 I107V probably benign Het
Pot1b G A 17: 55,662,454 probably benign Het
Prkca C T 11: 108,340,677 W58* probably null Het
Slc12a9 T C 5: 137,322,443 K555R probably damaging Het
Smoc2 A T 17: 14,336,610 Q107L probably damaging Het
Sytl1 T A 4: 133,261,032 R4S probably benign Het
Tbc1d4 A G 14: 101,458,113 L963P probably damaging Het
Tfdp2 G A 9: 96,317,936 probably benign Het
Tmem63a A T 1: 180,961,075 M326L probably benign Het
Vmn2r66 A G 7: 85,006,974 L278P probably damaging Het
Wtap A G 17: 12,983,511 V11A possibly damaging Het
Zcchc9 A T 13: 91,806,053 S28T possibly damaging Het
Zfp12 C T 5: 143,244,059 probably benign Het
Other mutations in Ankmy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01971:Ankmy2 APN 12 36193793 nonsense probably null
IGL02588:Ankmy2 APN 12 36176686 splice site probably benign
IGL03076:Ankmy2 APN 12 36165918 missense probably damaging 0.98
Concise UTSW 12 36193784 missense probably damaging 1.00
7510:Ankmy2 UTSW 12 36157412 missense probably benign 0.06
PIT4520001:Ankmy2 UTSW 12 36157391 missense probably benign 0.41
R0135:Ankmy2 UTSW 12 36170435 splice site probably benign
R0319:Ankmy2 UTSW 12 36165899 missense possibly damaging 0.76
R0347:Ankmy2 UTSW 12 36193754 missense probably damaging 1.00
R0485:Ankmy2 UTSW 12 36182390 missense possibly damaging 0.94
R0557:Ankmy2 UTSW 12 36187766 missense probably benign 0.38
R1304:Ankmy2 UTSW 12 36186805 missense probably damaging 0.99
R1397:Ankmy2 UTSW 12 36170441 splice site probably benign
R1572:Ankmy2 UTSW 12 36186942 critical splice donor site probably null
R1674:Ankmy2 UTSW 12 36187669 missense probably benign
R1874:Ankmy2 UTSW 12 36165931 missense possibly damaging 0.77
R1887:Ankmy2 UTSW 12 36170468 missense possibly damaging 0.71
R1985:Ankmy2 UTSW 12 36157364 missense possibly damaging 0.86
R1996:Ankmy2 UTSW 12 36193797 missense probably benign 0.00
R4964:Ankmy2 UTSW 12 36186918 missense possibly damaging 0.69
R5534:Ankmy2 UTSW 12 36182492 missense probably damaging 0.96
R5606:Ankmy2 UTSW 12 36165921 missense probably benign 0.19
R5614:Ankmy2 UTSW 12 36193784 missense probably damaging 1.00
R5906:Ankmy2 UTSW 12 36176633 missense probably damaging 1.00
R6427:Ankmy2 UTSW 12 36187711 missense possibly damaging 0.49
R7065:Ankmy2 UTSW 12 36187708 missense probably damaging 0.96
R7135:Ankmy2 UTSW 12 36196312 missense probably benign
R7705:Ankmy2 UTSW 12 36195108 missense probably benign 0.37
R7721:Ankmy2 UTSW 12 36157144 unclassified probably benign
R8492:Ankmy2 UTSW 12 36176591 missense probably damaging 1.00
Z1176:Ankmy2 UTSW 12 36186859 missense probably damaging 0.97
Posted On2016-08-02