Incidental Mutation 'R9150:Six2'
ID 694997
Institutional Source Beutler Lab
Gene Symbol Six2
Ensembl Gene ENSMUSG00000024134
Gene Name sine oculis-related homeobox 2
Synonyms
MMRRC Submission 068938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9150 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 85991705-85995702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85992763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 247 (S247P)
Ref Sequence ENSEMBL: ENSMUSP00000024947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024947] [ENSMUST00000163568]
AlphaFold Q62232
Predicted Effect probably benign
Transcript: ENSMUST00000024947
AA Change: S247P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024947
Gene: ENSMUSG00000024134
AA Change: S247P

DomainStartEndE-ValueType
HOX 125 186 8.72e-18 SMART
low complexity region 228 269 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163568
AA Change: S247P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125871
Gene: ENSMUSG00000024134
AA Change: S247P

DomainStartEndE-ValueType
Pfam:SIX1_SD 9 119 1.5e-52 PFAM
HOX 125 186 8.72e-18 SMART
low complexity region 228 269 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die shortly after birth and exhibit abnormal kidney development. Abnormalities include small kidney, lack of ureteric bud branches throughout the kidney, increased apoptosis and premature and arrested nephron development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b CTCCGGTGAGTGCCTCATCC CTCC 5: 137,553,354 (GRCm39) probably null Het
Ampd1 A T 3: 102,988,359 (GRCm39) I101F possibly damaging Het
Arhgap11a A G 2: 113,673,614 (GRCm39) V92A possibly damaging Het
Arih1 C A 9: 59,344,069 (GRCm39) L189F possibly damaging Het
B4galt3 A G 1: 171,103,899 (GRCm39) R379G probably benign Het
Capn12 A G 7: 28,590,378 (GRCm39) N642D probably benign Het
Cdc42ep3 T C 17: 79,642,299 (GRCm39) H207R probably benign Het
Dcps A T 9: 35,035,938 (GRCm39) L316H probably damaging Het
Dmgdh A G 13: 93,825,103 (GRCm39) Y142C probably damaging Het
Elmo2 A G 2: 165,140,607 (GRCm39) V300A probably damaging Het
Eml6 A T 11: 29,755,791 (GRCm39) V821E probably benign Het
Fam181a A T 12: 103,282,139 (GRCm39) N15Y probably damaging Het
Gm26657 G T 4: 56,740,835 (GRCm39) E7* probably null Het
Gm8267 A T 14: 44,955,362 (GRCm39) S220T probably benign Het
Gpld1 A T 13: 25,146,305 (GRCm39) Y183F probably damaging Het
Gpr158 G A 2: 21,831,251 (GRCm39) G784R probably benign Het
Grm2 A G 9: 106,524,657 (GRCm39) L215P Het
Gtpbp1 A G 15: 79,592,165 (GRCm39) D252G probably damaging Het
Heatr5b A G 17: 79,103,448 (GRCm39) V1135A probably benign Het
Irag1 T C 7: 110,498,205 (GRCm39) T397A probably benign Het
Lrrc8e A C 8: 4,286,030 (GRCm39) K752Q probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mapre2 A G 18: 23,991,208 (GRCm39) T201A probably benign Het
Mcm9 A T 10: 53,502,110 (GRCm39) N85K Het
Mdga1 T C 17: 30,057,420 (GRCm39) T92A probably damaging Het
Nemf A C 12: 69,387,820 (GRCm39) D421E probably benign Het
Oga A T 19: 45,771,421 (GRCm39) V50E probably benign Het
Or13g1 G C 7: 85,955,942 (GRCm39) F126L probably damaging Het
Or5k14 G T 16: 58,693,005 (GRCm39) C169* probably null Het
Or5m3 A T 2: 85,838,626 (GRCm39) K169* probably null Het
Or8k53 A T 2: 86,177,336 (GRCm39) M258K probably damaging Het
Pcdhga5 A C 18: 37,827,933 (GRCm39) N127T probably damaging Het
Phyhipl A T 10: 70,404,887 (GRCm39) V107E probably damaging Het
Pkd1l1 G A 11: 8,786,256 (GRCm39) R2383C Het
Ppp1r16a G A 15: 76,575,054 (GRCm39) probably benign Het
Pramel20 A G 4: 143,298,531 (GRCm39) Y158C probably benign Het
Rnf41 T C 10: 128,272,399 (GRCm39) V142A Het
Sgcd C T 11: 46,870,170 (GRCm39) V264I probably damaging Het
Slc17a7 T G 7: 44,820,167 (GRCm39) Y241D probably damaging Het
Slc30a5 T A 13: 100,939,915 (GRCm39) K724* probably null Het
Slitrk1 T A 14: 109,149,101 (GRCm39) I537F possibly damaging Het
Sp140l2 T A 1: 85,091,359 (GRCm39) Q33L probably damaging Het
Spen C T 4: 141,244,468 (GRCm39) R189Q unknown Het
Srd5a3 T A 5: 76,297,615 (GRCm39) L139Q probably damaging Het
Tgfbrap1 A T 1: 43,114,985 (GRCm39) Y38* probably null Het
Tln2 A T 9: 67,128,778 (GRCm39) M1437K probably damaging Het
Tmem87b T C 2: 128,687,401 (GRCm39) I467T probably damaging Het
Tnfrsf21 T A 17: 43,398,691 (GRCm39) I599N probably damaging Het
Trmt112 T A 19: 6,887,620 (GRCm39) L23Q probably damaging Het
Tsc22d1 T A 14: 76,654,056 (GRCm39) N178K probably damaging Het
Ttc23 A G 7: 67,375,850 (GRCm39) Y476C probably damaging Het
Twf1 A T 15: 94,484,274 (GRCm39) W83R probably damaging Het
Vmn2r14 T A 5: 109,367,783 (GRCm39) H403L probably damaging Het
Wiz A T 17: 32,586,809 (GRCm39) I167N probably benign Het
Zdhhc22 G A 12: 87,035,192 (GRCm39) P87S probably benign Het
Zfp618 C T 4: 63,039,603 (GRCm39) Q401* probably null Het
Zfp715 T A 7: 42,948,713 (GRCm39) I416F possibly damaging Het
Other mutations in Six2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Six2 APN 17 85,995,319 (GRCm39) missense probably damaging 1.00
IGL02452:Six2 APN 17 85,992,806 (GRCm39) missense possibly damaging 0.91
IGL02468:Six2 APN 17 85,992,931 (GRCm39) missense possibly damaging 0.80
PIT4449001:Six2 UTSW 17 85,992,906 (GRCm39) missense probably benign 0.00
PIT4812001:Six2 UTSW 17 85,992,729 (GRCm39) missense possibly damaging 0.92
R2073:Six2 UTSW 17 85,994,933 (GRCm39) missense probably damaging 1.00
R2075:Six2 UTSW 17 85,994,933 (GRCm39) missense probably damaging 1.00
R2915:Six2 UTSW 17 85,992,616 (GRCm39) missense probably damaging 1.00
R3830:Six2 UTSW 17 85,992,615 (GRCm39) missense probably damaging 1.00
R5834:Six2 UTSW 17 85,995,092 (GRCm39) missense probably damaging 0.96
R7555:Six2 UTSW 17 85,995,135 (GRCm39) missense probably damaging 1.00
R7723:Six2 UTSW 17 85,995,103 (GRCm39) missense probably benign 0.06
R8011:Six2 UTSW 17 85,995,100 (GRCm39) missense probably damaging 1.00
R9328:Six2 UTSW 17 85,995,196 (GRCm39) missense possibly damaging 0.66
R9700:Six2 UTSW 17 85,994,867 (GRCm39) missense probably damaging 1.00
Z1176:Six2 UTSW 17 85,992,884 (GRCm39) missense probably benign 0.26
Z1177:Six2 UTSW 17 85,995,053 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCACAGACTCCAGAATCTATCG -3'
(R):5'- GCGAGAACTCCAATTCCAGCAG -3'

Sequencing Primer
(F):5'- TTCATCAAGCACGGAAAGCAAG -3'
(R):5'- TCCAATTCCAGCAGCCACAAC -3'
Posted On 2022-01-20