Incidental Mutation 'IGL01635:Six4'
ID92951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Six4
Ensembl Gene ENSMUSG00000034460
Gene Namesine oculis-related homeobox 4
SynonymsTrexBF, AREC3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01635
Quality Score
Status
Chromosome12
Chromosomal Location73099609-73113456 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 73109197 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 324 (A324V)
Ref Sequence ENSEMBL: ENSMUSP00000135699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043208] [ENSMUST00000175693]
Predicted Effect probably benign
Transcript: ENSMUST00000043208
AA Change: A332V

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460
AA Change: A332V

DomainStartEndE-ValueType
low complexity region 36 56 N/A INTRINSIC
low complexity region 57 80 N/A INTRINSIC
low complexity region 89 98 N/A INTRINSIC
Pfam:SIX1_SD 101 211 1.6e-47 PFAM
HOX 216 278 7.48e-17 SMART
low complexity region 335 348 N/A INTRINSIC
low complexity region 365 378 N/A INTRINSIC
low complexity region 424 437 N/A INTRINSIC
low complexity region 587 598 N/A INTRINSIC
low complexity region 616 629 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175693
AA Change: A324V

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460
AA Change: A324V

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
low complexity region 49 72 N/A INTRINSIC
low complexity region 81 90 N/A INTRINSIC
HOX 208 270 7.48e-17 SMART
low complexity region 327 340 N/A INTRINSIC
low complexity region 357 370 N/A INTRINSIC
low complexity region 416 429 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for a targeted null mutation are viable, fertile, and exhibit no apparent abnormalities suggesting compensation by other Six family members. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik T C 19: 23,559,015 Y176C probably damaging Het
Abat A G 16: 8,614,046 I396V probably benign Het
Bag2 T A 1: 33,746,932 N103I possibly damaging Het
Chd1 T C 17: 17,378,596 S107P probably damaging Het
Chd3 A T 11: 69,361,250 probably benign Het
Cytip T C 2: 58,148,231 E106G probably damaging Het
Dcp1b T A 6: 119,206,537 I195N probably damaging Het
Ddhd1 C A 14: 45,629,580 V322F probably null Het
Esrrg A T 1: 188,198,600 D296V probably damaging Het
F5 A G 1: 164,207,858 K1867R probably benign Het
Gm10717 C A 9: 3,025,506 F30L possibly damaging Het
Gm10717 C A 9: 3,025,511 A32D probably damaging Het
Gm3550 A T 18: 34,737,742 M110L probably benign Het
Gstt1 G T 10: 75,794,117 T54K probably damaging Het
Ighmbp2 C T 19: 3,267,265 V536I possibly damaging Het
Mphosph8 A T 14: 56,672,546 R119W probably damaging Het
Negr1 A G 3: 156,562,292 D33G probably benign Het
Olfr168 A G 16: 19,530,095 V275A probably benign Het
Olfr77 A T 9: 19,920,484 I92L probably damaging Het
Plbd2 T C 5: 120,499,049 D116G probably damaging Het
Pold1 A T 7: 44,535,977 V733E probably damaging Het
Prorsd1 T A 11: 29,513,467 K98N probably benign Het
Rasal2 G T 1: 157,163,824 L611I probably damaging Het
Rffl G A 11: 82,812,552 R147C probably benign Het
Sdad1 A G 5: 92,297,160 M315T probably damaging Het
Shprh T A 10: 11,170,019 Y861* probably null Het
Stab2 T C 10: 86,981,128 D135G probably benign Het
Tada3 T C 6: 113,376,012 H12R probably benign Het
Zap70 A G 1: 36,771,157 D116G probably damaging Het
Other mutations in Six4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02045:Six4 APN 12 73108655 missense probably benign 0.04
IGL02678:Six4 APN 12 73112634 missense probably damaging 1.00
R2473:Six4 UTSW 12 73104175 missense probably benign 0.00
R3409:Six4 UTSW 12 73112883 missense probably damaging 0.98
R3410:Six4 UTSW 12 73112883 missense probably damaging 0.98
R3411:Six4 UTSW 12 73112883 missense probably damaging 0.98
R4175:Six4 UTSW 12 73108831 missense probably damaging 1.00
R4176:Six4 UTSW 12 73108831 missense probably damaging 1.00
R4296:Six4 UTSW 12 73104125 missense probably damaging 1.00
R4303:Six4 UTSW 12 73112540 missense possibly damaging 0.91
R5013:Six4 UTSW 12 73103626 missense probably benign 0.37
R5782:Six4 UTSW 12 73104058 missense probably benign 0.02
R5794:Six4 UTSW 12 73112350 missense possibly damaging 0.82
R6429:Six4 UTSW 12 73103473 missense probably damaging 1.00
R6650:Six4 UTSW 12 73103525 missense probably benign 0.04
R7018:Six4 UTSW 12 73108953 missense probably benign 0.01
R7464:Six4 UTSW 12 73112530 missense possibly damaging 0.89
R7832:Six4 UTSW 12 73112634 missense probably damaging 1.00
R7871:Six4 UTSW 12 73104239 critical splice acceptor site probably benign
R7872:Six4 UTSW 12 73104239 critical splice acceptor site probably benign
R7873:Six4 UTSW 12 73104239 critical splice acceptor site probably benign
R7956:Six4 UTSW 12 73103761 missense possibly damaging 0.83
R8266:Six4 UTSW 12 73108649 missense possibly damaging 0.53
RF012:Six4 UTSW 12 73103582 frame shift probably null
RF013:Six4 UTSW 12 73103582 frame shift probably null
RF014:Six4 UTSW 12 73103582 frame shift probably null
RF015:Six4 UTSW 12 73103582 frame shift probably null
Posted On2013-12-09