Incidental Mutation 'IGL02045:Six4'
ID184930
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 #IGL02045
Quality Score
Status
Chromosome12
Chromosomal Location73099609-73113456 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73108655 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 505 (S505G)
Ref Sequence ENSEMBL: ENSMUSP00000135699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043208] [ENSMUST00000175693]
Predicted Effect probably benign
Transcript: ENSMUST00000043208
SMART Domains Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460

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: S505G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460
AA Change: S505G

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,240,660 H2044Q possibly damaging Het
Ankrd12 A T 17: 65,986,249 S730T probably benign Het
Ano9 A T 7: 141,102,469 N655K probably benign Het
Ap1ar A T 3: 127,815,649 Y108N probably damaging Het
Asap3 A G 4: 136,227,441 I55V probably benign Het
Barx2 T C 9: 31,858,798 T145A probably damaging Het
Camta1 T C 4: 151,073,985 probably null Het
Ces2e C T 8: 104,930,658 probably benign Het
Cflar T C 1: 58,752,744 I405T probably benign Het
Cyp51 A G 5: 4,083,247 S464P probably damaging Het
Ermard G A 17: 15,051,564 probably benign Het
Fam92b T A 8: 120,169,722 K174* probably null Het
Glb1l2 T C 9: 26,796,545 T49A probably benign Het
Gls A G 1: 52,219,515 V198A probably benign Het
Heatr5b A T 17: 78,808,426 I867N probably damaging Het
Ighv1-14 A T 12: 114,646,714 noncoding transcript Het
Iqsec1 T C 6: 90,664,069 K1022E probably damaging Het
Myo10 A G 15: 25,726,488 T299A probably benign Het
Nr2e3 A T 9: 59,949,008 M82K probably benign Het
Ntpcr A G 8: 125,745,452 probably benign Het
Olfr1424 T C 19: 12,058,889 T288A possibly damaging Het
Olfr385 A G 11: 73,589,232 C169R probably damaging Het
Olfr508 A G 7: 108,630,532 D180G probably damaging Het
Olfr605 A G 7: 103,442,952 L57P probably damaging Het
Olfr814 A T 10: 129,874,222 D178E probably benign Het
Prkcb A G 7: 122,590,167 D506G probably damaging Het
Rasgef1a A G 6: 118,089,443 I470V probably benign Het
Rbm27 A G 18: 42,319,913 E514G possibly damaging Het
Rgs22 G A 15: 36,013,154 A1048V probably benign Het
Secisbp2l A G 2: 125,775,578 F60L possibly damaging Het
Skint1 T A 4: 112,025,530 V257E possibly damaging Het
Smad9 A G 3: 54,786,172 N174S possibly damaging Het
Smc2 A G 4: 52,462,914 N635D probably benign Het
Stradb T A 1: 58,989,778 I135N probably damaging Het
Syt12 T C 19: 4,447,734 T407A probably damaging Het
Tmc8 T A 11: 117,786,520 I322N probably damaging Het
Tnip1 A C 11: 54,911,539 *648G probably null Het
Ttc3 T C 16: 94,409,681 probably benign Het
Other mutations in Six4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Six4 APN 12 73109197 missense probably benign 0.32
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
R7915:Six4 UTSW 12 73112634 missense probably damaging 1.00
R7954:Six4 UTSW 12 73104239 critical splice acceptor site probably benign
R7955:Six4 UTSW 12 73104239 critical splice acceptor site probably benign
R7956:Six4 UTSW 12 73104239 critical splice acceptor site probably benign
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 On2014-05-07