Incidental Mutation 'R6891:Ankrd34a'
ID 537198
Institutional Source Beutler Lab
Gene Symbol Ankrd34a
Ensembl Gene ENSMUSG00000049097
Gene Name ankyrin repeat domain 34A
Synonyms Ankrd34
MMRRC Submission 044985-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R6891 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 96503952-96507091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96505335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 180 (V180I)
Ref Sequence ENSEMBL: ENSMUSP00000102707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058943] [ENSMUST00000062058] [ENSMUST00000091924] [ENSMUST00000145001]
AlphaFold B2RW11
Predicted Effect probably benign
Transcript: ENSMUST00000058943
AA Change: V180I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000102707
Gene: ENSMUSG00000049097
AA Change: V180I

DomainStartEndE-ValueType
ANK 4 33 9.05e2 SMART
ANK 37 72 2.81e-4 SMART
ANK 76 106 5.84e-2 SMART
ANK 110 139 7.99e2 SMART
low complexity region 216 244 N/A INTRINSIC
low complexity region 350 366 N/A INTRINSIC
low complexity region 431 461 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062058
SMART Domains Protein: ENSMUSP00000057623
Gene: ENSMUSG00000049288

DomainStartEndE-ValueType
Pfam:LIX1 80 328 8.9e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091924
SMART Domains Protein: ENSMUSP00000089544
Gene: ENSMUSG00000028104

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 217 2.8e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145001
SMART Domains Protein: ENSMUSP00000118943
Gene: ENSMUSG00000028104

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 148 4.4e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 C T 9: 107,806,346 (GRCm39) A223V probably benign Het
Agbl5 G T 5: 31,052,522 (GRCm39) R61L probably damaging Het
Agmat A T 4: 141,483,192 (GRCm39) T209S probably benign Het
Anks1 C T 17: 28,276,398 (GRCm39) T1047M probably damaging Het
Arhgap21 T A 2: 20,855,142 (GRCm39) I1407F probably damaging Het
Armc1 C A 3: 19,189,205 (GRCm39) C183F probably damaging Het
Atg13 A G 2: 91,516,136 (GRCm39) M196T probably benign Het
AU040320 G T 4: 126,740,231 (GRCm39) S864I possibly damaging Het
Btn2a2 T C 13: 23,667,014 (GRCm39) D197G probably benign Het
Carmil1 A G 13: 24,325,706 (GRCm39) I208T probably benign Het
Cbs T A 17: 31,841,431 (GRCm39) R263S probably damaging Het
Ccdc7a C A 8: 129,753,119 (GRCm39) R204L probably damaging Het
Cdhr1 A T 14: 36,819,334 (GRCm39) probably null Het
Cers4 G A 8: 4,573,731 (GRCm39) R378Q probably damaging Het
Chst1 T G 2: 92,444,088 (GRCm39) L187V probably benign Het
Clec4e A T 6: 123,260,565 (GRCm39) N164K probably damaging Het
Cln3 T A 7: 126,181,975 (GRCm39) D29V possibly damaging Het
Crybg2 A G 4: 133,809,148 (GRCm39) S187G probably benign Het
Ddx1 A T 12: 13,286,096 (GRCm39) N285K probably benign Het
Dmxl2 A G 9: 54,387,664 (GRCm39) I58T probably damaging Het
Dock4 A G 12: 40,829,135 (GRCm39) Y1007C probably damaging Het
Eral1 C T 11: 77,966,559 (GRCm39) V234I possibly damaging Het
Fads2b C A 2: 85,319,149 (GRCm39) M384I possibly damaging Het
Fads2b T G 2: 85,319,157 (GRCm39) T382P probably damaging Het
Fam161b A G 12: 84,401,554 (GRCm39) F400S probably damaging Het
Fmnl3 T C 15: 99,223,754 (GRCm39) D314G probably damaging Het
Foxred2 A T 15: 77,839,909 (GRCm39) L127Q probably damaging Het
Gjd2 G A 2: 113,843,575 (GRCm39) A14V possibly damaging Het
Gon4l A G 3: 88,766,173 (GRCm39) probably null Het
Gpr151 T A 18: 42,711,985 (GRCm39) D231V probably benign Het
Gzf1 A T 2: 148,526,689 (GRCm39) K387* probably null Het
Hfm1 T A 5: 107,065,240 (GRCm39) K146N possibly damaging Het
Hgf G A 5: 16,809,920 (GRCm39) probably null Het
Isoc2b A G 7: 4,854,487 (GRCm39) S15P probably damaging Het
Itga5 A G 15: 103,265,970 (GRCm39) S126P probably damaging Het
Kat6b A G 14: 21,719,104 (GRCm39) D1152G probably benign Het
Kcna4 C T 2: 107,126,652 (GRCm39) S462F probably damaging Het
Kif24 A T 4: 41,394,168 (GRCm39) C902S probably benign Het
Lama2 A T 10: 27,204,068 (GRCm39) C523* probably null Het
Lama2 G C 10: 27,204,078 (GRCm39) S520* probably null Het
Ltf T C 9: 110,854,181 (GRCm39) V332A probably benign Het
Mapkap1 T C 2: 34,453,153 (GRCm39) F349L probably damaging Het
Mdm1 A G 10: 117,983,937 (GRCm39) N188D probably benign Het
Mfn1 T C 3: 32,631,252 (GRCm39) S730P possibly damaging Het
Mrgprd T A 7: 144,876,087 (GRCm39) D319E probably benign Het
Mrps9 C A 1: 42,944,573 (GRCm39) L364I probably damaging Het
Myo1h C T 5: 114,487,673 (GRCm39) R626C probably damaging Het
Nme3 T C 17: 25,115,829 (GRCm39) S61P probably benign Het
Or2g1 A G 17: 38,106,395 (GRCm39) Q20R probably benign Het
Or52e18 A G 7: 104,609,192 (GRCm39) I249T probably damaging Het
Pald1 A G 10: 61,184,311 (GRCm39) probably null Het
Papola A T 12: 105,775,950 (GRCm39) probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Plch1 T C 3: 63,605,504 (GRCm39) T1458A probably benign Het
Polr3e A G 7: 120,543,873 (GRCm39) Q659R probably damaging Het
Pramel38 C A 5: 94,365,978 (GRCm39) P32Q probably damaging Het
Shoc2 T C 19: 53,976,548 (GRCm39) V146A probably benign Het
Slc15a1 T C 14: 121,713,442 (GRCm39) T362A probably benign Het
Smpd3 A G 8: 106,991,300 (GRCm39) Y418H probably damaging Het
Sorcs1 A T 19: 50,213,557 (GRCm39) C723* probably null Het
Supt7l T A 5: 31,680,365 (GRCm39) N16Y probably damaging Het
Syngr2 T C 11: 117,703,499 (GRCm39) V105A probably damaging Het
Thrb T A 14: 17,981,899 (GRCm38) V8E probably benign Het
Tlx1 A T 19: 45,139,757 (GRCm39) I135F probably damaging Het
Tnfaip3 A G 10: 18,887,417 (GRCm39) I36T probably damaging Het
Troap A G 15: 98,980,569 (GRCm39) Y583C possibly damaging Het
Usp17lb T C 7: 104,490,307 (GRCm39) K207E probably benign Het
Vmn2r10 C T 5: 109,149,845 (GRCm39) V400M probably damaging Het
Wdr49 A T 3: 75,240,590 (GRCm39) probably null Het
Wdr64 G T 1: 175,533,634 (GRCm39) W90L probably damaging Het
Yme1l1 A G 2: 23,085,401 (GRCm39) E662G probably damaging Het
Zfp334 C T 2: 165,224,644 (GRCm39) V68I probably benign Het
Other mutations in Ankrd34a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02488:Ankrd34a APN 3 96,506,229 (GRCm39) missense probably benign 0.33
R0190:Ankrd34a UTSW 3 96,505,105 (GRCm39) missense probably damaging 0.99
R1940:Ankrd34a UTSW 3 96,505,992 (GRCm39) missense probably benign 0.28
R3779:Ankrd34a UTSW 3 96,506,247 (GRCm39) missense possibly damaging 0.85
R5427:Ankrd34a UTSW 3 96,504,837 (GRCm39) missense probably damaging 0.99
R5429:Ankrd34a UTSW 3 96,504,837 (GRCm39) missense probably damaging 0.99
R5430:Ankrd34a UTSW 3 96,504,837 (GRCm39) missense probably damaging 0.99
R6129:Ankrd34a UTSW 3 96,505,274 (GRCm39) nonsense probably null
R6621:Ankrd34a UTSW 3 96,505,531 (GRCm39) missense possibly damaging 0.91
R6951:Ankrd34a UTSW 3 96,505,738 (GRCm39) missense possibly damaging 0.77
R7085:Ankrd34a UTSW 3 96,505,945 (GRCm39) missense probably benign
R7478:Ankrd34a UTSW 3 96,505,816 (GRCm39) missense possibly damaging 0.65
R8257:Ankrd34a UTSW 3 96,505,045 (GRCm39) missense possibly damaging 0.93
R8746:Ankrd34a UTSW 3 96,504,791 (GRCm39) unclassified probably benign
R9511:Ankrd34a UTSW 3 96,505,401 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- TTCAGTTCGAGATCACGCTGG -3'
(R):5'- CTCGGAATTGAGCCTTTTGAG -3'

Sequencing Primer
(F):5'- AGATCACGCTGGCGCCTC -3'
(R):5'- AATTGAGCCTTTTGAGTGGTTTTG -3'
Posted On 2018-10-18