Incidental Mutation 'R6123:Ankrd34b'
ID485847
Institutional Source Beutler Lab
Gene Symbol Ankrd34b
Ensembl Gene ENSMUSG00000045034
Gene Nameankyrin repeat domain 34B
Synonyms
MMRRC Submission 044270-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #R6123 (G1)
Quality Score225.009
Status Not validated
Chromosome13
Chromosomal Location92425896-92441658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92439076 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 272 (E272G)
Ref Sequence ENSEMBL: ENSMUSP00000126289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061594] [ENSMUST00000165225] [ENSMUST00000168871]
Predicted Effect probably damaging
Transcript: ENSMUST00000061594
AA Change: E272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054330
Gene: ENSMUSG00000045034
AA Change: E272G

DomainStartEndE-ValueType
ANK 9 38 1.96e3 SMART
ANK 42 79 2.85e-5 SMART
ANK 83 113 1.9e-1 SMART
ANK 117 146 1.99e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165225
Predicted Effect probably damaging
Transcript: ENSMUST00000168871
AA Change: E272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126289
Gene: ENSMUSG00000045034
AA Change: E272G

DomainStartEndE-ValueType
ANK 9 38 1.96e3 SMART
ANK 42 79 2.85e-5 SMART
ANK 83 113 1.9e-1 SMART
ANK 117 146 1.99e2 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik T C 2: 23,230,122 Y235H possibly damaging Het
Acot7 A G 4: 152,199,945 E24G probably benign Het
Arhgef18 A T 8: 3,437,091 N270I probably damaging Het
AU040320 A G 4: 126,869,386 probably benign Het
BC022687 T C 12: 112,810,910 F153L probably damaging Het
Btnl10 C A 11: 58,920,304 S151Y probably damaging Het
Ccdc146 C A 5: 21,305,597 R504I possibly damaging Het
Ckmt1 C G 2: 121,363,579 R408G probably benign Het
Cyp2j6 A T 4: 96,518,029 *502R probably null Het
Dido1 A T 2: 180,683,967 V476E probably benign Het
Dnah2 T C 11: 69,518,359 K398E probably benign Het
E130308A19Rik A G 4: 59,737,565 Y392C probably damaging Het
Esf1 T A 2: 140,168,389 D9V probably benign Het
Fam168a A G 7: 100,824,150 Q82R probably damaging Het
Fastkd3 C T 13: 68,590,218 Q32* probably null Het
Gm12394 A G 4: 42,793,065 S356P possibly damaging Het
Gm13084 A T 4: 143,812,764 M53K possibly damaging Het
Gm14496 T A 2: 181,991,227 M1K probably null Het
Gm6665 A G 18: 31,819,884 M79T probably benign Het
Gna15 A G 10: 81,509,344 L229P probably damaging Het
Herc1 A G 9: 66,497,250 T4451A probably damaging Het
Igf2bp1 A G 11: 95,975,296 V122A probably damaging Het
Ighv5-4 A T 12: 113,597,693 S36T probably damaging Het
Ints3 A G 3: 90,413,554 V186A probably benign Het
Jrk A G 15: 74,706,680 I252T possibly damaging Het
Kcnh5 T C 12: 75,087,591 S395G probably benign Het
Kcnt2 C T 1: 140,362,980 P103S probably damaging Het
Klra10 T C 6: 130,279,376 K105R probably benign Het
P4ha1 A T 10: 59,350,527 K276I possibly damaging Het
Pcyox1 A G 6: 86,388,928 S435P possibly damaging Het
R3hdm1 A T 1: 128,169,036 N103I probably damaging Het
Rnf213 T C 11: 119,411,513 V421A probably damaging Het
Rnpc3 A T 3: 113,609,056 probably null Het
Scaf11 A G 15: 96,420,454 S410P probably benign Het
Slc16a1 A G 3: 104,653,194 T272A probably benign Het
Slco3a1 C T 7: 74,318,506 D489N probably benign Het
Slitrk3 T C 3: 73,049,762 D559G probably damaging Het
Sntb2 G A 8: 106,981,225 G207D probably damaging Het
Spdye4a T C 5: 143,225,718 I30M possibly damaging Het
Thumpd1 A T 7: 119,717,009 V239E probably damaging Het
Tnfsf15 T C 4: 63,744,925 S54G probably benign Het
Tor1aip1 A G 1: 156,007,205 I299T probably damaging Het
Tpst2 C T 5: 112,308,218 R208C probably damaging Het
Tubgcp2 T C 7: 140,007,597 Y285C probably damaging Het
Vav3 C T 3: 109,664,365 T201M probably damaging Het
Washc5 A G 15: 59,335,110 S1105P probably damaging Het
Other mutations in Ankrd34b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Ankrd34b APN 13 92438787 missense probably benign 0.00
IGL02684:Ankrd34b APN 13 92438508 missense probably damaging 0.99
IGL02695:Ankrd34b APN 13 92439612 missense possibly damaging 0.91
IGL03302:Ankrd34b APN 13 92439643 missense possibly damaging 0.90
R0143:Ankrd34b UTSW 13 92439760 missense probably damaging 1.00
R1874:Ankrd34b UTSW 13 92439556 missense probably damaging 0.99
R2138:Ankrd34b UTSW 13 92439406 missense probably damaging 0.97
R2504:Ankrd34b UTSW 13 92439061 splice site probably null
R4782:Ankrd34b UTSW 13 92438305 missense probably damaging 0.98
R7159:Ankrd34b UTSW 13 92439462 missense probably benign 0.00
R7238:Ankrd34b UTSW 13 92438631 missense possibly damaging 0.77
R7367:Ankrd34b UTSW 13 92438287 missense probably benign 0.00
R8005:Ankrd34b UTSW 13 92438722 missense possibly damaging 0.61
R8297:Ankrd34b UTSW 13 92439589 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGACACTCTTTGGCTTCAAGG -3'
(R):5'- GGAATCTCCACGCTTGTCTG -3'

Sequencing Primer
(F):5'- CACTCTTTGGCTTCAAGGATAAGGAG -3'
(R):5'- ACGCTTGTCTGGCTTCC -3'
Posted On2017-08-16