Incidental Mutation 'R6429:Six4'
ID 518442
Institutional Source Beutler Lab
Gene Symbol Six4
Ensembl Gene ENSMUSG00000034460
Gene Name sine oculis-related homeobox 4
Synonyms AREC3, TrexBF
MMRRC Submission 044567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6429 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 73146383-73160201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73150247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 766 (V766D)
Ref Sequence ENSEMBL: ENSMUSP00000036150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043208] [ENSMUST00000175693]
AlphaFold Q61321
Predicted Effect probably damaging
Transcript: ENSMUST00000043208
AA Change: V766D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460
AA Change: V766D

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
SMART Domains Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G A 5: 114,366,652 (GRCm39) E1565K probably damaging Het
Amy1 T C 3: 113,363,158 (GRCm39) N63S probably damaging Het
Arhgef15 G T 11: 68,838,622 (GRCm39) N591K probably damaging Het
AW551984 A G 9: 39,511,910 (GRCm39) S34P probably damaging Het
C2cd3 A G 7: 100,081,298 (GRCm39) D127G probably damaging Het
Ccdc87 T A 19: 4,891,263 (GRCm39) V585E probably benign Het
Cemip2 T C 19: 21,779,272 (GRCm39) C361R probably benign Het
Cul2 T C 18: 3,421,345 (GRCm39) I223T probably damaging Het
Dgkq C T 5: 108,801,574 (GRCm39) V495M probably damaging Het
Dpp10 A G 1: 123,295,330 (GRCm39) I570T possibly damaging Het
Dstyk C T 1: 132,377,542 (GRCm39) Q383* probably null Het
Emilin2 C A 17: 71,617,951 (GRCm39) probably benign Het
Fnip1 A G 11: 54,406,393 (GRCm39) I1163M probably damaging Het
Fryl C T 5: 73,248,094 (GRCm39) E1008K possibly damaging Het
Gm35315 A T 5: 110,226,525 (GRCm39) Y305N possibly damaging Het
Grhl3 T A 4: 135,284,507 (GRCm39) D195V probably damaging Het
Ift56 T A 6: 38,375,248 (GRCm39) S250T possibly damaging Het
Il33 T C 19: 29,929,400 (GRCm39) F41S probably benign Het
Il4 A G 11: 53,504,736 (GRCm39) S15P possibly damaging Het
Inf2 C T 12: 112,570,690 (GRCm39) P410S probably benign Het
Kalrn T A 16: 34,152,534 (GRCm39) D349V possibly damaging Het
Krt4 A G 15: 101,831,229 (GRCm39) M224T probably benign Het
Lrp2 C T 2: 69,291,631 (GRCm39) S3516N probably damaging Het
Macf1 A T 4: 123,295,387 (GRCm39) probably null Het
Msr1 G A 8: 40,068,858 (GRCm39) P213S probably damaging Het
Nptx1 G T 11: 119,435,547 (GRCm39) C256* probably null Het
Nr1d1 T C 11: 98,662,840 (GRCm39) Y51C probably damaging Het
Or4c11c G A 2: 88,661,869 (GRCm39) R136Q probably benign Het
Panx3 T C 9: 37,572,461 (GRCm39) D363G probably damaging Het
Pira13 A T 7: 3,825,345 (GRCm39) H432Q possibly damaging Het
Prkag1 A G 15: 98,712,404 (GRCm39) F143L probably damaging Het
Ptger4 T C 15: 5,272,478 (GRCm39) K72R possibly damaging Het
Pvrig-ps A G 5: 138,340,312 (GRCm39) T28A probably benign Het
Rhod C T 19: 4,476,133 (GRCm39) C206Y probably benign Het
Rngtt C A 4: 33,320,606 (GRCm39) S51* probably null Het
Rreb1 T G 13: 38,116,105 (GRCm39) S1155A probably benign Het
Scn9a A C 2: 66,357,307 (GRCm39) I998S possibly damaging Het
Sfmbt1 T A 14: 30,495,868 (GRCm39) F50L probably damaging Het
Smpd1 T C 7: 105,206,135 (GRCm39) I421T probably damaging Het
Son T A 16: 91,455,054 (GRCm39) M1267K probably benign Het
Styk1 T A 6: 131,287,027 (GRCm39) D156V possibly damaging Het
Supt3 A G 17: 45,430,030 (GRCm39) E361G probably benign Het
Tbx3 T A 5: 119,812,256 (GRCm39) Y185* probably null Het
Trpm1 A T 7: 63,918,252 (GRCm39) T531S probably benign Het
Tspan32 T A 7: 142,572,479 (GRCm39) W172R possibly damaging Het
Urb1 A T 16: 90,559,318 (GRCm39) probably null Het
Vmn2r70 T A 7: 85,208,276 (GRCm39) I734F probably damaging Het
Vwa7 A G 17: 35,243,175 (GRCm39) T618A probably benign Het
Wac T A 18: 7,920,163 (GRCm39) V339E probably damaging Het
Wrn G A 8: 33,833,024 (GRCm39) T156M probably damaging Het
Zeb1 T A 18: 5,770,498 (GRCm39) C884S probably damaging Het
Zfp747l1 T C 7: 126,984,214 (GRCm39) probably benign Het
Zmpste24 A G 4: 120,952,867 (GRCm39) V10A probably damaging Het
Other mutations in Six4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Six4 APN 12 73,155,971 (GRCm39) missense probably benign 0.32
IGL02045:Six4 APN 12 73,155,429 (GRCm39) missense probably benign 0.04
IGL02678:Six4 APN 12 73,159,408 (GRCm39) missense probably damaging 1.00
R2473:Six4 UTSW 12 73,150,949 (GRCm39) missense probably benign 0.00
R3409:Six4 UTSW 12 73,159,657 (GRCm39) missense probably damaging 0.98
R3410:Six4 UTSW 12 73,159,657 (GRCm39) missense probably damaging 0.98
R3411:Six4 UTSW 12 73,159,657 (GRCm39) missense probably damaging 0.98
R4175:Six4 UTSW 12 73,155,605 (GRCm39) missense probably damaging 1.00
R4176:Six4 UTSW 12 73,155,605 (GRCm39) missense probably damaging 1.00
R4296:Six4 UTSW 12 73,150,899 (GRCm39) missense probably damaging 1.00
R4303:Six4 UTSW 12 73,159,314 (GRCm39) missense possibly damaging 0.91
R5013:Six4 UTSW 12 73,150,400 (GRCm39) missense probably benign 0.37
R5782:Six4 UTSW 12 73,150,832 (GRCm39) missense probably benign 0.02
R5794:Six4 UTSW 12 73,159,124 (GRCm39) missense possibly damaging 0.82
R6650:Six4 UTSW 12 73,150,299 (GRCm39) missense probably benign 0.04
R7018:Six4 UTSW 12 73,155,727 (GRCm39) missense probably benign 0.01
R7464:Six4 UTSW 12 73,159,304 (GRCm39) missense possibly damaging 0.89
R7832:Six4 UTSW 12 73,159,408 (GRCm39) missense probably damaging 1.00
R7871:Six4 UTSW 12 73,151,013 (GRCm39) critical splice acceptor site probably benign
R7872:Six4 UTSW 12 73,151,013 (GRCm39) critical splice acceptor site probably benign
R7873:Six4 UTSW 12 73,151,013 (GRCm39) critical splice acceptor site probably benign
R7956:Six4 UTSW 12 73,150,535 (GRCm39) missense possibly damaging 0.83
R8266:Six4 UTSW 12 73,155,423 (GRCm39) missense possibly damaging 0.53
R8728:Six4 UTSW 12 73,159,180 (GRCm39) missense probably benign 0.00
R9065:Six4 UTSW 12 73,159,498 (GRCm39) missense possibly damaging 0.56
R9103:Six4 UTSW 12 73,155,964 (GRCm39) missense probably damaging 1.00
R9147:Six4 UTSW 12 73,155,681 (GRCm39) missense probably benign 0.07
R9148:Six4 UTSW 12 73,155,681 (GRCm39) missense probably benign 0.07
R9430:Six4 UTSW 12 73,150,719 (GRCm39) missense possibly damaging 0.87
RF012:Six4 UTSW 12 73,150,356 (GRCm39) frame shift probably null
RF013:Six4 UTSW 12 73,150,356 (GRCm39) frame shift probably null
RF014:Six4 UTSW 12 73,150,356 (GRCm39) frame shift probably null
RF015:Six4 UTSW 12 73,150,356 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AAAGCGAGCACGATGTGACC -3'
(R):5'- GTTCTGCAGTCAGTCCCTAAC -3'

Sequencing Primer
(F):5'- GCTCTTCATGCAGCCCAAG -3'
(R):5'- TCTGCAGTCAGTCCCTAACATAAAAG -3'
Posted On 2018-05-24