Incidental Mutation 'IGL00331:Hoxa2'
ID5447
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxa2
Ensembl Gene ENSMUSG00000014704
Gene Namehomeobox A2
SynonymsHox-1.11
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00331
Quality Score
Status
Chromosome6
Chromosomal Location52162417-52164831 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 52163517 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 163 (Y163S)
Ref Sequence ENSEMBL: ENSMUSP00000014848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014848] [ENSMUST00000128102]
Predicted Effect probably damaging
Transcript: ENSMUST00000014848
AA Change: Y163S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014848
Gene: ENSMUSG00000014704
AA Change: Y163S

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
low complexity region 101 116 N/A INTRINSIC
HOX 139 201 2.37e-28 SMART
low complexity region 214 227 N/A INTRINSIC
low complexity region 332 367 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114435
Predicted Effect probably benign
Transcript: ENSMUST00000128102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189230
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is located in a cluster of developmentally and temporally regulated genes on chromosome 6 encoding proteins involved in pattern formation. These proteins contain a characteristic DNA-binding motif called a homeodomain and function in transcriptional regulation. There are four distinct clusters of related genes on chromosomes 2, 6, 11, and 15. The protein encoded by this gene is expressed in rhombomere 2 and is important for hindbrain formation in the early embryo. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutant homozygotes lack skeletal elements normally derived from the second branchial arch and show duplication of elements derived from the first branchial arch, such as ossification centers of the middle ear. Mutants die perinatally with cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C A 1: 74,281,436 probably benign Het
Adamts19 T A 18: 59,007,325 probably benign Het
Afg3l1 T A 8: 123,487,389 F190I probably benign Het
Alms1 T A 6: 85,641,371 S2800T possibly damaging Het
Alox5 A T 6: 116,415,517 W348R probably damaging Het
Atp13a5 G A 16: 29,267,014 Q823* probably null Het
Atp6v1b2 T C 8: 69,088,934 probably null Het
Chuk T C 19: 44,088,023 I416M possibly damaging Het
Dmbt1 A T 7: 131,099,290 Q1066L possibly damaging Het
Dnah5 A G 15: 28,421,620 T3873A probably damaging Het
Endog C T 2: 30,172,900 T184M probably damaging Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp T C 7: 28,101,541 probably benign Het
Flii A G 11: 60,715,833 I1061T probably benign Het
Hdac2 T A 10: 36,997,071 N308K probably damaging Het
Hsd3b7 T C 7: 127,802,972 L263P probably damaging Het
Klf17 T C 4: 117,761,038 T41A probably benign Het
Lrrfip1 T C 1: 91,068,621 M42T probably damaging Het
Mapk8ip1 C T 2: 92,385,188 V614I probably benign Het
Mocs1 T G 17: 49,435,264 probably null Het
Moxd1 T C 10: 24,282,555 probably benign Het
Mterf1a T C 5: 3,891,610 E86G probably damaging Het
Muc4 A G 16: 32,753,185 D1021G probably benign Het
Nomo1 T C 7: 46,045,336 S212P possibly damaging Het
Olfr1471 A G 19: 13,445,624 D204G probably benign Het
Olfr893 T A 9: 38,209,238 Y60N probably damaging Het
Phf21a A C 2: 92,348,029 T385P probably damaging Het
Piwil4 A T 9: 14,715,031 probably benign Het
Pknox1 T C 17: 31,599,645 probably null Het
Prr14l T C 5: 32,831,066 I362V probably benign Het
Sergef C T 7: 46,635,420 probably null Het
Sez6l T C 5: 112,424,645 D948G probably damaging Het
Skor1 A T 9: 63,146,441 L54Q probably damaging Het
Sntn C T 14: 13,679,086 Q87* probably null Het
Syde2 A G 3: 146,014,341 K772E possibly damaging Het
Taf2 T A 15: 55,071,449 probably null Het
Tbc1d13 T A 2: 30,140,511 Y113N probably damaging Het
Tmem154 T C 3: 84,684,415 F91L probably benign Het
Tmem63a A G 1: 180,966,497 D533G possibly damaging Het
Tmprss15 A T 16: 78,985,994 N712K possibly damaging Het
Trip12 A T 1: 84,730,541 D603E probably damaging Het
Trmt11 T C 10: 30,566,449 D246G probably damaging Het
Vmn1r174 T A 7: 23,754,533 M208K possibly damaging Het
Wdr54 T C 6: 83,155,773 H33R probably benign Het
Zfp207 A G 11: 80,389,002 D111G probably benign Het
Other mutations in Hoxa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0111:Hoxa2 UTSW 6 52164487 intron probably null
R0612:Hoxa2 UTSW 6 52163560 missense probably damaging 1.00
R1479:Hoxa2 UTSW 6 52163340 missense probably damaging 0.97
R1992:Hoxa2 UTSW 6 52164596 missense probably damaging 0.97
R2315:Hoxa2 UTSW 6 52162891 unclassified probably benign
R5703:Hoxa2 UTSW 6 52163263 missense probably damaging 0.98
R5994:Hoxa2 UTSW 6 52164392 missense possibly damaging 0.73
R6168:Hoxa2 UTSW 6 52163481 missense probably damaging 1.00
R7483:Hoxa2 UTSW 6 52164299 missense probably benign 0.01
Posted On2012-04-20