Incidental Mutation 'R7873:Six4'
ID 608269
Institutional Source Beutler Lab
Gene Symbol Six4
Ensembl Gene ENSMUSG00000034460
Gene Name sine oculis-related homeobox 4
Synonyms AREC3, TrexBF
MMRRC Submission 045925-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7873 (G1)
Quality Score 217.468
Status Not validated
Chromosome 12
Chromosomal Location 73146383-73160201 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) CT to C at 73151013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043208] [ENSMUST00000175693]
AlphaFold Q61321
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
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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,684,091 (GRCm39) I229F probably benign Het
Abca14 T C 7: 119,888,792 (GRCm39) L1246S probably benign Het
Abtb3 T C 10: 85,466,989 (GRCm39) V685A possibly damaging Het
Acacb A C 5: 114,361,339 (GRCm39) S1340R possibly damaging Het
Ankrd6 A T 4: 32,806,499 (GRCm39) S585T possibly damaging Het
Ark2c T C 18: 77,554,449 (GRCm39) D248G possibly damaging Het
Ccdc54 A G 16: 50,410,672 (GRCm39) V198A probably benign Het
Cnga4 A G 7: 105,056,249 (GRCm39) I387V probably damaging Het
Creg1 G T 1: 165,597,448 (GRCm39) D141Y probably damaging Het
Cxcr2 T C 1: 74,198,166 (GRCm39) L220P probably benign Het
Dennd5a T A 7: 109,526,141 (GRCm39) I344F probably damaging Het
Dysf A G 6: 84,060,747 (GRCm39) N448S probably benign Het
Efcab6 A G 15: 83,902,826 (GRCm39) probably null Het
Elf2 C A 3: 51,164,099 (GRCm39) V489F probably damaging Het
Elmod2 G T 8: 84,057,848 (GRCm39) H12N probably benign Het
Eln C T 5: 134,740,041 (GRCm39) G618E unknown Het
Fbxo33 G T 12: 59,265,807 (GRCm39) S153R possibly damaging Het
Fbxw7 A T 3: 84,833,071 (GRCm39) I38F possibly damaging Het
Flnc G A 6: 29,456,990 (GRCm39) V2329I possibly damaging Het
Fsip2 C T 2: 82,779,856 (GRCm39) R201C probably damaging Het
Gpr155 T C 2: 73,173,934 (GRCm39) E825G possibly damaging Het
Grk3 A T 5: 113,077,552 (GRCm39) M405K probably benign Het
H2bc7 A T 13: 23,758,244 (GRCm39) Y41N probably damaging Het
Hace1 T C 10: 45,548,883 (GRCm39) V597A possibly damaging Het
Ido1 A G 8: 25,074,758 (GRCm39) F295S probably damaging Het
Ighe T A 12: 113,234,942 (GRCm39) E406V Het
Ighv1-31 G T 12: 114,793,274 (GRCm39) A15E probably benign Het
Ighv1-75 A T 12: 115,797,988 (GRCm39) L10H probably damaging Het
Inpp5e T A 2: 26,297,957 (GRCm39) K215* probably null Het
Iqcn A G 8: 71,163,989 (GRCm39) M1061V probably benign Het
Krt18 C T 15: 101,939,391 (GRCm39) T288I probably benign Het
Lrwd1 A T 5: 136,152,792 (GRCm39) I490N probably benign Het
Macf1 T A 4: 123,398,344 (GRCm39) probably null Het
Mapk8ip3 A G 17: 25,125,146 (GRCm39) V482A probably benign Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mdk A G 2: 91,761,773 (GRCm39) F7S probably benign Het
Mycbp2 G A 14: 103,393,582 (GRCm39) P2993L probably damaging Het
Niban3 A T 8: 72,054,892 (GRCm39) I193F probably damaging Het
Nme4 A T 17: 26,312,862 (GRCm39) Y99N probably damaging Het
Nr1d2 G A 14: 18,216,656 (GRCm38) R171* probably null Het
Or10h28 A G 17: 33,488,348 (GRCm39) I217V probably benign Het
Osgep G T 14: 51,153,347 (GRCm39) T326K probably damaging Het
Pdgfd C T 9: 6,337,271 (GRCm39) T201M probably benign Het
Pdk4 T C 6: 5,487,086 (GRCm39) D320G probably benign Het
Pelp1 A T 11: 70,285,552 (GRCm39) V772D probably damaging Het
Pkdrej T A 15: 85,700,724 (GRCm39) R1737S probably benign Het
Ppp1r13b A T 12: 111,801,320 (GRCm39) Y578N probably damaging Het
Ppp1r3b A C 8: 35,851,329 (GRCm39) K56T probably benign Het
Prdm11 G T 2: 92,819,628 (GRCm39) H261N probably benign Het
Preb T A 5: 31,116,109 (GRCm39) N166I probably benign Het
Psd3 T C 8: 68,335,634 (GRCm39) K681R possibly damaging Het
Ptgs1 G A 2: 36,141,292 (GRCm39) V580I probably damaging Het
Ptpro T A 6: 137,407,737 (GRCm39) S949T probably benign Het
Pum2 A G 12: 8,798,802 (GRCm39) E973G possibly damaging Het
Rdh1 A G 10: 127,595,892 (GRCm39) D29G probably benign Het
Rel A G 11: 23,692,957 (GRCm39) S359P probably benign Het
Ryr3 T A 2: 112,560,773 (GRCm39) H2996L probably benign Het
Scarb1 C T 5: 125,371,103 (GRCm39) C323Y probably damaging Het
Scn5a C T 9: 119,327,193 (GRCm39) R1309H probably damaging Het
Serpinb12 T A 1: 106,881,469 (GRCm39) V202E probably damaging Het
Shh A G 5: 28,663,298 (GRCm39) L290P possibly damaging Het
Slc34a2 G A 5: 53,215,714 (GRCm39) G42R probably benign Het
Slc41a1 A G 1: 131,758,561 (GRCm39) N68D possibly damaging Het
Slc7a6os A G 8: 106,937,356 (GRCm39) S64P probably damaging Het
Slco1a7 T A 6: 141,673,448 (GRCm39) L363F probably benign Het
Smc1b A G 15: 84,994,851 (GRCm39) probably null Het
Snx9 T C 17: 5,968,751 (GRCm39) V349A possibly damaging Het
Sstr1 G T 12: 58,260,313 (GRCm39) G312V probably damaging Het
Tnfsf10 A G 3: 27,389,808 (GRCm39) I290V probably benign Het
Trio A G 15: 27,805,770 (GRCm39) C1717R possibly damaging Het
Ttbk1 T G 17: 46,757,494 (GRCm39) S1047R probably damaging Het
Ttn T C 2: 76,746,877 (GRCm39) D4724G probably benign Het
Uba1y T A Y: 825,542 (GRCm39) N301K probably benign Het
Unc5c A G 3: 141,533,310 (GRCm39) T853A probably benign Het
Vmn2r45 T A 7: 8,486,074 (GRCm39) I405L probably benign Het
Wdr37 A T 13: 8,855,969 (GRCm39) M458K probably damaging Het
Zdhhc14 A T 17: 5,762,729 (GRCm39) Y211F probably benign Het
Zfp108 G A 7: 23,960,758 (GRCm39) V450I probably benign Het
Zfp212 A T 6: 47,907,860 (GRCm39) R280* probably null Het
Zfp940 A T 7: 29,535,042 (GRCm39) V108E unknown 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
R6429:Six4 UTSW 12 73,150,247 (GRCm39) missense probably damaging 1.00
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
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'- TGATTGACAGGCATCAACTGAG -3'
(R):5'- AGAGAAAGTTAGTCGGCCTGC -3'

Sequencing Primer
(F):5'- TGAGAAAAGACCAGGCCTCTTTC -3'
(R):5'- GTTAGTCGGCCTGCGTCCTC -3'
Posted On 2019-12-20