Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4548:Six3'

512137

Institutional Source

Beutler Lab

Gene Symbol

Six3

Ensembl Gene

ENSMUSG00000038805

Gene Name

sine oculis-related homeobox 3

Synonyms

E130112M24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4548 ()

Quality Score

117.467

Status

Not validated

Chromosome

Chromosomal Location

85613608-85629302 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GGC to GGCCGC at 85621363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162695] [ENSMUST00000175898] [ENSMUST00000176081]

AlphaFold

Q62233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161688

Predicted Effect

probably benign
Transcript: ENSMUST00000162695

SMART Domains

Protein: ENSMUSP00000125169
Gene: ENSMUSG00000038805

Domain	Start	End	E-Value	Type
low complexity region	30	71	N/A	INTRINSIC
HOX	208	269	1.26e-14	SMART
low complexity region	294	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175898

SMART Domains

Protein: ENSMUSP00000135677
Gene: ENSMUSG00000038805

Domain	Start	End	E-Value	Type
low complexity region	30	71	N/A	INTRINSIC
HOX	208	269	1.26e-14	SMART
low complexity region	294	310	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175913

Predicted Effect

probably benign
Transcript: ENSMUST00000176081

SMART Domains

Protein: ENSMUSP00000135312
Gene: ENSMUSG00000038805

Domain	Start	End	E-Value	Type
low complexity region	51	92	N/A	INTRINSIC
Pfam:SIX1_SD	109	223	6e-47	PFAM
HOX	229	290	6.5e-17	SMART
low complexity region	315	331	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185134

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.3%
20x: 94.9%

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 sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions of this gene die at birth with anterior structures of the head and brain undeveloped. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,668,449 (GRCm38)		probably benign	Het
1700001K19Rik	CTT	CTTTTT	12: 110,668,452 (GRCm38)		probably benign	Het
2010300C02Rik	A	G	1: 37,625,102 (GRCm38)	S47P	probably damaging	Homo
2010300C02Rik	T	A	1: 37,625,035 (GRCm38)	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036 (GRCm38)	E594*	probably null	Homo
4930433I11Rik	ACCTC	AC	7: 40,993,056 (GRCm38)		probably benign	Het
4932415D10Rik	G	GTCATTA	10: 82,290,996 (GRCm38)		probably benign	Homo
Abt1	TTCTTGCT	TT	13: 23,423,711 (GRCm38)		probably benign	Het
Ahdc1	TCC	TCCCCC	4: 133,062,757 (GRCm38)		probably benign	Homo
Ahdc1	T	TCCC	4: 133,062,760 (GRCm38)		probably benign	Homo
AI837181	CGG	CGGGGG	19: 5,425,231 (GRCm38)		probably benign	Het
AI837181	CG	CGGGG	19: 5,425,237 (GRCm38)		probably benign	Het
Anxa2	CCC	CCCTCC	9: 69,480,203 (GRCm38)		probably benign	Het
Anxa7	C	T	14: 20,469,411 (GRCm38)	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGACAATAAAG	18: 34,281,998 (GRCm38)		probably benign	Het
Apol6	T	TGTTA	15: 77,051,445 (GRCm38)		probably null	Homo
BC051142	GCA	GCATCA	17: 34,460,065 (GRCm38)		probably benign	Het
Blm	CTAC	CTACTTAC	7: 80,463,769 (GRCm38)		probably null	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,116,336 (GRCm38)		probably benign	Het
Bud31	C	T	5: 145,146,535 (GRCm38)	R63C	probably benign	Het
C4b	C	T	17: 34,740,997 (GRCm38)	R335H	probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,717 (GRCm38)		probably benign	Het
Cacna1f	AGG	AGGGGG	X: 7,620,058 (GRCm38)		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,561,026 (GRCm38)		probably benign	Het
Cckbr	GGGC	G	7: 105,434,681 (GRCm38)		probably benign	Homo
Cd3eap	GGATG	GG	7: 19,357,244 (GRCm38)		probably benign	Homo
Cd80	GAAA	GAAAAAA	16: 38,486,319 (GRCm38)		probably benign	Homo
Ces1b	T	C	8: 93,068,092 (GRCm38)	N293S	probably null	Homo
Cgnl1	CGC	CGCGGC	9: 71,724,717 (GRCm38)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,189,572 (GRCm38)		probably benign	Het
Cntnap1	GCC	GCCCCAACC	11: 101,189,594 (GRCm38)		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,579 (GRCm38)		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,189,593 (GRCm38)		probably benign	Het
Ctsm	GTGA	GTGAATGA	13: 61,537,837 (GRCm38)		probably null	Homo
Cttnbp2	TGCTGC	TGCTGCCGCTGC	6: 18,367,463 (GRCm38)		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,583,673 (GRCm38)		probably null	Het
Dusp10	G	T	1: 184,037,056 (GRCm38)	C73F	probably damaging	Homo
Efna4	ATGTGAT	A	3: 89,334,422 (GRCm38)		probably benign	Homo
Eif3a	A	ATTTTT	19: 60,775,291 (GRCm38)		probably benign	Homo
Ermn	TC	TCTCC	2: 58,048,088 (GRCm38)		probably benign	Het
Ermn	TTC	TTCATC	2: 58,048,075 (GRCm38)		probably benign	Het
Fbxo43	GTGCCT	GTGCCTATGCCT	15: 36,152,098 (GRCm38)		probably null	Het
Fscb	T	A	12: 64,472,565 (GRCm38)	Q709L	unknown	Het
Fscb	A	G	12: 64,472,563 (GRCm38)	S710P	unknown	Het
Glod4	A	C	11: 76,243,310 (GRCm38)		probably benign	Homo
Gm14401	A	G	2: 177,086,868 (GRCm38)	D249G	probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,196,070 (GRCm38)		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,073 (GRCm38)		probably benign	Het
Gm8104	C	T	14: 43,110,009 (GRCm38)	T178I	probably benign	Het
Gm8104	T	C	14: 43,110,011 (GRCm38)	S179P	probably damaging	Het
Gpatch11	GGAAGA	GGAAGACGAAGA	17: 78,842,175 (GRCm38)		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042 (GRCm38)		probably benign	Homo
Hist1h1t	GAGAA	GA	13: 23,695,920 (GRCm38)		probably benign	Homo
Hspa1b	GCGCC	GC	17: 34,957,129 (GRCm38)		probably benign	Homo
Ifi211	G	A	1: 173,906,193 (GRCm38)	A134V	possibly damaging	Het
Igf1r	C	CTGGAGATGGAGG	7: 68,226,186 (GRCm38)		probably benign	Het
Igkv9-129	G	A	6: 67,840,034 (GRCm38)	V41I	probably damaging	Het
Ipo9	TCC	TCCCCC	1: 135,386,275 (GRCm38)		probably benign	Het
Kcng4	G	T	8: 119,633,519 (GRCm38)	Y39*	probably null	Homo
Klra2	AG	AGAAATCCACGG	6: 131,221,851 (GRCm38)		probably null	Het
Kmt2b	CTCC	CTCCTCGTCC	7: 30,586,380 (GRCm38)		probably benign	Het
Kng2	G	A	16: 23,000,552 (GRCm38)	Q245*	probably null	Het
Kri1	CTCCTCTTCCTC	CTCCTC	9: 21,281,050 (GRCm38)		probably benign	Het
Krt10	TCCTCCAC	TCCTCCACCTCCAC	11: 99,389,276 (GRCm38)		probably benign	Homo
Krt10	TCCTCC	TCCTCCCCCTCC	11: 99,389,273 (GRCm38)		probably benign	Het
Las1l	TC	TCTTCCGC	X: 95,940,625 (GRCm38)		probably benign	Het
Las1l	GAG	GAGAAG	X: 95,940,823 (GRCm38)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,816 (GRCm38)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,813 (GRCm38)		probably benign	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182 (GRCm38)		probably benign	Homo
Luzp1	CTCTTCAGA	CTCTTCAGAGGTGGCATCTTCAGA	4: 136,543,188 (GRCm38)		probably benign	Homo
Mast4	CA	CAGTGGGA	13: 102,736,318 (GRCm38)		probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,275,982 (GRCm38)		probably benign	Het
Mn1	GCA	GCACCA	5: 111,419,698 (GRCm38)		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCCGGCAGTGAG	19: 42,076,109 (GRCm38)		probably benign	Het
Msantd4	A	T	9: 4,384,937 (GRCm38)	I221F	possibly damaging	Homo
Mup21	ATACTT	ATACTTTTTATCTACTT	4: 62,149,346 (GRCm38)		probably benign	Het
Mup21	TATACTT	TATACTTTTTAAATACTT	4: 62,149,345 (GRCm38)		probably benign	Het
Nacad	GG	GGCCAGTG	11: 6,599,760 (GRCm38)		probably benign	Het
Nacad	AGGGTC	AGGGTCGGGGTC	11: 6,599,752 (GRCm38)		probably benign	Het
Ncapd2	CTT	CTTGGTT	6: 125,173,596 (GRCm38)		probably benign	Homo
Nelfe	GACCGGGATCGAGACAGAGAC	GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC	17: 34,854,070 (GRCm38)		probably benign	Homo
Nfxl1	CCGGGG	CCGGGGTCGGGG	5: 72,559,115 (GRCm38)		probably benign	Het
Nkx2-6	C	T	14: 69,175,229 (GRCm38)	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,240,092 (GRCm38)		probably benign	Homo
Noc2l	GC	GCTTC	4: 156,240,100 (GRCm38)		probably benign	Het
Nphp3	CACG	C	9: 104,025,939 (GRCm38)		probably benign	Het
Nrg3	TTG	TTGACACTG	14: 38,397,271 (GRCm38)		probably benign	Homo
Olfr313	T	A	11: 58,817,440 (GRCm38)	V144D	possibly damaging	Homo
Olfr318	T	G	11: 58,720,371 (GRCm38)	I226L	probably benign	Het
Olfr585	T	TTAG	7: 103,098,309 (GRCm38)		probably null	Homo
Olfr624	CAAA	CAAAAAA	7: 103,670,960 (GRCm38)		probably benign	Homo
Olfr624	G	GAAC	7: 103,670,967 (GRCm38)		probably null	Homo
Osmr	CTC	CTCTTC	15: 6,837,703 (GRCm38)		probably benign	Homo
Patl2	GCT	GCTCCT	2: 122,126,135 (GRCm38)		probably benign	Het
Pdik1l	ACCAC	ACCACCGCCAC	4: 134,279,512 (GRCm38)		probably benign	Homo
Phldb3	GACCC	G	7: 24,628,978 (GRCm38)		probably null	Het
Piezo1	G	A	8: 122,495,569 (GRCm38)	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945 (GRCm38)		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,819,680 (GRCm38)		probably benign	Homo
Ppp1r3f	C	A	X: 7,560,336 (GRCm38)	G562V	probably damaging	Homo
Prag1	GC	GCAAC	8: 36,103,885 (GRCm38)		probably benign	Homo
Prr13	TCC	TCCGCC	15: 102,462,174 (GRCm38)		probably benign	Het
Prtg	GTAAC	G	9: 72,857,081 (GRCm38)		probably benign	Homo
Ptk2b	C	T	14: 66,173,849 (GRCm38)	R411Q	possibly damaging	Het
Ptms	TTC	TTCGTC	6: 124,914,456 (GRCm38)		probably benign	Het
Ptpn23	G	T	9: 110,387,633 (GRCm38)	P1052T	probably benign	Homo
Rbm33	AGCAGCCGCAGC	AGCAGC	5: 28,394,201 (GRCm38)		probably benign	Het
Setd1a	TGGTAGTGG	TGGTAGTGGCGGTAGTGG	7: 127,785,313 (GRCm38)		probably benign	Homo
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307 (GRCm38)		probably benign	Homo
Sfswap	CCACTCAGC	CCACTCAGCGCACTCAGC	5: 129,569,749 (GRCm38)		probably benign	Het
Sfswap	AGCCCACTCGGCC	AGCCCACTCGGCCCACTCGGCC	5: 129,569,755 (GRCm38)		probably benign	Homo
Sh3pxd2b	T	TGTCTTG	11: 32,423,065 (GRCm38)		probably benign	Het
Sh3pxd2b	GT	GTGTCTCT	11: 32,423,064 (GRCm38)		probably benign	Homo
Shroom4	GCAGCAACA	GCA	X: 6,624,074 (GRCm38)		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACCCC	2: 125,154,214 (GRCm38)		probably benign	Homo
Spaca1	GC	GCTCTCTC	4: 34,049,856 (GRCm38)		probably benign	Het
Spag17	AGG	AGGCGG	3: 100,056,254 (GRCm38)		probably benign	Het
Srebf2	G	T	15: 82,185,335 (GRCm38)	A693S	probably damaging	Homo
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,657 (GRCm38)		probably benign	Het
Supt20	CA	CAGCAGAA	3: 54,727,673 (GRCm38)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,664 (GRCm38)		probably benign	Het
Syne1	C	A	10: 5,032,969 (GRCm38)	S8652I	probably benign	Homo
Tob1	GCA	GCAACA	11: 94,214,455 (GRCm38)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,469 (GRCm38)		probably benign	Het
Tomm5	CTTCCGC	CTTCCGCATTTTCCGC	4: 45,107,977 (GRCm38)		probably benign	Het
Trav15-2-dv6-2	G	GAAA	14: 53,649,757 (GRCm38)		probably benign	Het
Triobp	TCG	TCGGCG	15: 78,993,387 (GRCm38)		probably benign	Het
Triobp	TCG	TCGCCG	15: 78,993,390 (GRCm38)		probably benign	Homo
Tsen2	GAG	GAGAAG	6: 115,560,068 (GRCm38)		probably benign	Het
Ttf2	TC	TCCGC	3: 100,963,160 (GRCm38)		probably benign	Homo
Tusc1	CGCCAC	CGCCACTGCCAC	4: 93,335,303 (GRCm38)		probably benign	Het
Ubtf	CTC	CTCATC	11: 102,306,958 (GRCm38)		probably benign	Het
Utrn	T	TTCCTGTC	10: 12,633,941 (GRCm38)		probably benign	Homo
Vars	G	GAGTCCTGGGTGC	17: 35,015,991 (GRCm38)		probably benign	Het
Vars	TGG	TGGAGTCCTGGGGGG	17: 35,015,989 (GRCm38)		probably benign	Homo
Vmn2r99	G	A	17: 19,394,285 (GRCm38)	G756R	probably damaging	Het
Vps13b	G	T	15: 35,846,957 (GRCm38)	A2629S	probably damaging	Homo
Zc3h13	TGCG	TGCGTGATGAGCG	14: 75,323,599 (GRCm38)		probably benign	Het
Zdhhc16	CACA	CACAACAGGGAAAGCAGTCTGTCAACA	19: 41,942,168 (GRCm38)		probably null	Het
Zfp26	C	A	9: 20,438,546 (GRCm38)	A241S	probably benign	Homo
Zfp335	TCC	TCCCCC	2: 164,907,472 (GRCm38)		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,680,775 (GRCm38)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,776 (GRCm38)		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731 (GRCm38)		probably null	Het
Zfp986	G	T	4: 145,899,358 (GRCm38)	R196I	probably benign	Het
Zfp992	G	T	4: 146,466,007 (GRCm38)	E62*	probably null	Het

Other mutations in Six3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03096:Six3	APN	17	85,621,937 (GRCm38)	missense	possibly damaging	0.78
IGL03397:Six3	APN	17	85,621,646 (GRCm38)	missense	probably damaging	1.00
FR4304:Six3	UTSW	17	85,621,368 (GRCm38)	small insertion	probably benign
FR4340:Six3	UTSW	17	85,621,356 (GRCm38)	small insertion	probably benign
FR4449:Six3	UTSW	17	85,621,362 (GRCm38)	small insertion	probably benign
FR4589:Six3	UTSW	17	85,621,365 (GRCm38)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,621,358 (GRCm38)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,621,357 (GRCm38)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,621,368 (GRCm38)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,621,365 (GRCm38)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,621,363 (GRCm38)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,621,362 (GRCm38)	small insertion	probably benign
FR4976:Six3	UTSW	17	85,621,371 (GRCm38)	small insertion	probably benign
FR4976:Six3	UTSW	17	85,621,358 (GRCm38)	small insertion	probably benign
R0238:Six3	UTSW	17	85,621,390 (GRCm38)	missense	probably damaging	1.00
R1264:Six3	UTSW	17	85,621,857 (GRCm38)	missense	probably damaging	0.96
R2903:Six3	UTSW	17	85,623,855 (GRCm38)	missense	probably damaging	0.96
R2916:Six3	UTSW	17	85,621,633 (GRCm38)	missense	probably benign	0.25
R4994:Six3	UTSW	17	85,621,292 (GRCm38)	missense	possibly damaging	0.91
R5393:Six3	UTSW	17	85,623,842 (GRCm38)	missense	possibly damaging	0.93
R6524:Six3	UTSW	17	85,621,970 (GRCm38)	missense	probably damaging	1.00
R8998:Six3	UTSW	17	85,623,736 (GRCm38)	missense	probably benign	0.01
R8999:Six3	UTSW	17	85,623,736 (GRCm38)	missense	probably benign	0.01
RF003:Six3	UTSW	17	85,621,370 (GRCm38)	small insertion	probably benign
RF010:Six3	UTSW	17	85,621,355 (GRCm38)	small insertion	probably benign
RF011:Six3	UTSW	17	85,621,368 (GRCm38)	small insertion	probably benign
RF012:Six3	UTSW	17	85,621,368 (GRCm38)	small insertion	probably benign
RF014:Six3	UTSW	17	85,621,356 (GRCm38)	small insertion	probably benign
RF015:Six3	UTSW	17	85,621,370 (GRCm38)	small insertion	probably benign
RF022:Six3	UTSW	17	85,621,356 (GRCm38)	small insertion	probably benign
RF054:Six3	UTSW	17	85,621,355 (GRCm38)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAATCTTGACTCGGCCGTG -3'
(R):5'- TTTGTTGATGGCCTCGCACG -3'

Sequencing Primer
(F):5'- GTGGGTGTCCCTTACGTCC -3'
(R):5'- CGATGTCGCCCGTCTCC -3'

Posted On

2018-04-05