Incidental Mutation 'R5013:Six4'
ID 390660
Institutional Source Beutler Lab
Gene Symbol Six4
Ensembl Gene ENSMUSG00000034460
Gene Name sine oculis-related homeobox 4
Synonyms AREC3, TrexBF
MMRRC Submission 042604-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5013 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 73146383-73160201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 73150400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 715 (I715R)
Ref Sequence ENSEMBL: ENSMUSP00000036150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043208] [ENSMUST00000175693]
AlphaFold Q61321
Predicted Effect probably benign
Transcript: ENSMUST00000043208
AA Change: I715R

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460
AA Change: I715R

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 100% (86/86)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,303,926 (GRCm39) L2117P probably damaging Het
Ago3 A T 4: 126,262,391 (GRCm39) S386R probably benign Het
Agxt T C 1: 93,069,779 (GRCm39) probably benign Het
Ahctf1 A T 1: 179,611,675 (GRCm39) I565N possibly damaging Het
Ank1 C T 8: 23,572,300 (GRCm39) T70I probably damaging Het
Anxa1 A G 19: 20,360,287 (GRCm39) V108A probably benign Het
Aqp3 A G 4: 41,093,819 (GRCm39) F225L probably damaging Het
Atp11b T G 3: 35,888,532 (GRCm39) I934R possibly damaging Het
Atp13a5 A T 16: 29,169,566 (GRCm39) L42Q probably damaging Het
Bcr A G 10: 74,960,898 (GRCm39) D443G probably benign Het
Cbfa2t3 G T 8: 123,365,598 (GRCm39) D211E possibly damaging Het
Ccdc146 A T 5: 21,538,036 (GRCm39) L96Q probably damaging Het
Cdh16 A G 8: 105,343,660 (GRCm39) I612T probably damaging Het
Clcn2 G A 16: 20,525,965 (GRCm39) P785S probably damaging Het
Dennd5a A G 7: 109,513,983 (GRCm39) I743T possibly damaging Het
Dnah12 T A 14: 26,431,326 (GRCm39) D381E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnajc2 G A 5: 21,962,771 (GRCm39) R521* probably null Het
Dst T C 1: 34,289,728 (GRCm39) V5776A probably damaging Het
Eddm13 G A 7: 6,269,332 (GRCm39) probably benign Het
Eif1ad19 T A 12: 87,740,512 (GRCm39) K16* probably null Het
Ercc4 G A 16: 12,941,445 (GRCm39) probably benign Het
Eya1 T A 1: 14,254,582 (GRCm39) N417Y probably damaging Het
Fam149b T A 14: 20,413,439 (GRCm39) H219Q possibly damaging Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fbxw17 C T 13: 50,586,506 (GRCm39) R403C probably benign Het
Fer1l4 T C 2: 155,873,135 (GRCm39) Y1315C probably damaging Het
Gatd1 G T 7: 140,988,861 (GRCm39) probably benign Het
Gm10330 A T 12: 23,829,961 (GRCm39) Y73* probably null Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Gsn T A 2: 35,188,933 (GRCm39) Y440N probably damaging Het
Hdc C T 2: 126,446,220 (GRCm39) E180K probably benign Het
Ilk A G 7: 105,391,456 (GRCm39) D374G probably damaging Het
Invs G A 4: 48,421,807 (GRCm39) R813Q probably damaging Het
Itln1 T A 1: 171,360,958 (GRCm39) K45* probably null Het
Ivd A G 2: 118,710,946 (GRCm39) Y385C probably damaging Het
Klk1b4 A G 7: 43,860,492 (GRCm39) N170S probably benign Het
Klk1b9 A C 7: 43,445,419 (GRCm39) D203A probably damaging Het
Lamtor3 A T 3: 137,630,909 (GRCm39) R27S probably damaging Het
Lcn6 T A 2: 25,567,082 (GRCm39) probably null Het
Lrriq1 T C 10: 103,025,784 (GRCm39) D946G probably damaging Het
Morc1 A G 16: 48,322,699 (GRCm39) D332G probably benign Het
Myo15a T C 11: 60,382,493 (GRCm39) I1523T probably damaging Het
Nagpa A T 16: 5,013,743 (GRCm39) M365K probably benign Het
Nckap5l G T 15: 99,324,457 (GRCm39) P682Q probably benign Het
Nfix A G 8: 85,498,713 (GRCm39) F87L possibly damaging Het
Nup155 C A 15: 8,153,722 (GRCm39) T421K probably benign Het
Or5ac25 A T 16: 59,182,067 (GRCm39) N171K probably damaging Het
Or5ae2 T C 7: 84,505,646 (GRCm39) V23A probably damaging Het
Or7c74 A G 2: 37,160,937 (GRCm39) noncoding transcript Het
Or8k53 A T 2: 86,177,647 (GRCm39) F154L probably benign Het
Pate14 T C 9: 36,549,120 (GRCm39) N47D probably benign Het
Pds5a A C 5: 65,792,680 (GRCm39) V751G probably benign Het
Podnl1 G T 8: 84,852,965 (GRCm39) C45F probably damaging Het
Psme2b C T 11: 48,836,654 (GRCm39) E98K probably benign Het
Ptprk T A 10: 28,427,713 (GRCm39) I764N probably damaging Het
Rbm33 A T 5: 28,547,409 (GRCm39) Q193L probably benign Het
Rnasel C A 1: 153,629,677 (GRCm39) H64Q probably damaging Het
Ryr1 G A 7: 28,802,234 (GRCm39) probably null Het
Scamp3 A G 3: 89,088,216 (GRCm39) probably benign Het
Sema6b C T 17: 56,439,497 (GRCm39) probably null Het
Slc28a2 T C 2: 122,288,371 (GRCm39) M554T possibly damaging Het
Snhg11 T C 2: 158,218,872 (GRCm39) probably benign Het
Spdya A T 17: 71,869,499 (GRCm39) Y98F possibly damaging Het
Tert T C 13: 73,794,428 (GRCm39) probably null Het
Tex22 G A 12: 113,052,104 (GRCm39) C54Y probably damaging Het
Tmem198b C T 10: 128,637,942 (GRCm39) R207H probably damaging Het
Trbv13-1 C T 6: 41,093,189 (GRCm39) Q42* probably null Het
Trcg1 T C 9: 57,149,562 (GRCm39) L378P probably damaging Het
Trpv5 T G 6: 41,636,647 (GRCm39) D433A probably damaging Het
Ube3b A G 5: 114,545,702 (GRCm39) N654D probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Vwa7 A T 17: 35,241,709 (GRCm39) Y448F probably damaging Het
Zan A C 5: 137,382,099 (GRCm39) D5149E unknown Het
Zfp106 A G 2: 120,341,015 (GRCm39) W1832R probably damaging Het
Zfp189 G A 4: 49,530,438 (GRCm39) G514S probably damaging Het
Zhx1 G A 15: 57,917,538 (GRCm39) T236I possibly 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
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
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'- CGGGCTTATAAGTCTTGCATGTC -3'
(R):5'- TGTACTGTGTCATCTGTCAGC -3'

Sequencing Primer
(F):5'- ATAAGTCTTGCATGTCTTCATCCAAC -3'
(R):5'- GTGTCATCTGTCAGCAACAC -3'
Posted On 2016-06-06