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

85921036-85933619 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GGC to GGCCGC at 85928791 bp (GRCm39)

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: ENSMUST00000184318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177220

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: 110,634,883 (GRCm39)		probably benign	Het
1700001K19Rik	CTT	CTTTTT	12: 110,634,886 (GRCm39)		probably benign	Het
4930433I11Rik	ACCTC	AC	7: 40,642,480 (GRCm39)		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,607,881 (GRCm39)		probably benign	Het
Ahdc1	T	TCCC	4: 132,790,071 (GRCm39)		probably benign	Homo
Ahdc1	TCC	TCCCCC	4: 132,790,068 (GRCm39)		probably benign	Homo
AI837181	CGG	CGGGGG	19: 5,475,259 (GRCm39)		probably benign	Het
AI837181	CG	CGGGG	19: 5,475,265 (GRCm39)		probably benign	Het
Anxa2	CCC	CCCTCC	9: 69,387,485 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGACAATAAAG	18: 34,415,051 (GRCm39)		probably benign	Het
Apol6	T	TGTTA	15: 76,935,645 (GRCm39)		probably null	Homo
Blm	CTAC	CTACTTAC	7: 80,113,517 (GRCm39)		probably null	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,335,310 (GRCm39)		probably benign	Het
Bud31	C	T	5: 145,083,345 (GRCm39)	R63C	probably benign	Het
C4b	C	T	17: 34,959,971 (GRCm39)	R335H	probably benign	Het
Cacna1a	ACC	ACCCCC	8: 85,365,346 (GRCm39)		probably benign	Het
Cacna1f	AGG	AGGGGG	X: 7,486,297 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,511,026 (GRCm39)		probably benign	Het
Cckbr	GGGC	G	7: 105,083,888 (GRCm39)		probably benign	Homo
Cd80	GAAA	GAAAAAA	16: 38,306,681 (GRCm39)		probably benign	Homo
Ces1b	T	C	8: 93,794,720 (GRCm39)	N293S	probably null	Homo
Cgnl1	CGC	CGCGGC	9: 71,631,999 (GRCm39)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,080,398 (GRCm39)		probably benign	Het
Cntnap1	GCC	GCCCCAACC	11: 101,080,420 (GRCm39)		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,080,419 (GRCm39)		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,080,405 (GRCm39)		probably benign	Het
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cracdl	A	G	1: 37,664,183 (GRCm39)	S47P	probably damaging	Homo
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Ctsm	GTGA	GTGAATGA	13: 61,685,651 (GRCm39)		probably null	Homo
Cttnbp2	TGCTGC	TGCTGCCGCTGC	6: 18,367,462 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,726 (GRCm39)		probably null	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
Efna4	ATGTGAT	A	3: 89,241,729 (GRCm39)		probably benign	Homo
Eif3a	A	ATTTTT	19: 60,763,729 (GRCm39)		probably benign	Homo
Ermn	TTC	TTCATC	2: 57,938,087 (GRCm39)		probably benign	Het
Ermn	TC	TCTCC	2: 57,938,100 (GRCm39)		probably benign	Het
Fbxo43	GTGCCT	GTGCCTATGCCT	15: 36,152,244 (GRCm39)		probably null	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Fscb	T	A	12: 64,519,339 (GRCm39)	Q709L	unknown	Het
Glod4	A	C	11: 76,134,136 (GRCm39)		probably benign	Homo
Gm14401	A	G	2: 176,778,661 (GRCm39)	D249G	probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,934 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,031,931 (GRCm39)		probably benign	Het
Gm8104	T	C	14: 42,967,468 (GRCm39)	S179P	probably damaging	Het
Gm8104	C	T	14: 42,967,466 (GRCm39)	T178I	probably benign	Het
Gpatch11	GGAAGA	GGAAGACGAAGA	17: 79,149,604 (GRCm39)		probably benign	Het
H1f6	GAGAA	GA	13: 23,879,903 (GRCm39)		probably benign	Homo
H2-K2	GTTT	G	17: 34,216,016 (GRCm39)		probably benign	Homo
Hspa1b	GCGCC	GC	17: 35,176,105 (GRCm39)		probably benign	Homo
Ifi211	G	A	1: 173,733,759 (GRCm39)	A134V	possibly damaging	Het
Igf1r	C	CTGGAGATGGAGG	7: 67,875,934 (GRCm39)		probably benign	Het
Igkv9-129	G	A	6: 67,817,018 (GRCm39)	V41I	probably damaging	Het
Ipo9	TCC	TCCCCC	1: 135,314,013 (GRCm39)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Klra2	AG	AGAAATCCACGG	6: 131,198,814 (GRCm39)		probably null	Het
Kmt2b	CTCC	CTCCTCGTCC	7: 30,285,805 (GRCm39)		probably benign	Het
Kng2	G	A	16: 22,819,302 (GRCm39)	Q245*	probably null	Het
Kri1	CTCCTCTTCCTC	CTCCTC	9: 21,192,346 (GRCm39)		probably benign	Het
Krt10	TCCTCC	TCCTCCCCCTCC	11: 99,280,099 (GRCm39)		probably benign	Het
Krt10	TCCTCCAC	TCCTCCACCTCCAC	11: 99,280,102 (GRCm39)		probably benign	Homo
Las1l	TC	TCTTCCGC	X: 94,984,231 (GRCm39)		probably benign	Het
Las1l	GAG	GAGAAG	X: 94,984,429 (GRCm39)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,582,462 (GRCm39)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,582,465 (GRCm39)		probably benign	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,362,622 (GRCm39)		probably benign	Homo
Luzp1	CTCTTCAGA	CTCTTCAGAGGTGGCATCTTCAGA	4: 136,270,499 (GRCm39)		probably benign	Homo
Mast4	CA	CAGTGGGA	13: 102,872,826 (GRCm39)		probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,183,403 (GRCm39)		probably benign	Het
Mn1	GCA	GCACCA	5: 111,567,564 (GRCm39)		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCCGGCAGTGAG	19: 42,064,548 (GRCm39)		probably benign	Het
Msantd4	A	T	9: 4,384,937 (GRCm39)	I221F	possibly damaging	Homo
Mup21	TATACTT	TATACTTTTTAAATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Mup21	ATACTT	ATACTTTTTATCTACTT	4: 62,067,583 (GRCm39)		probably benign	Het
Nacad	AGGGTC	AGGGTCGGGGTC	11: 6,549,752 (GRCm39)		probably benign	Het
Nacad	GG	GGCCAGTG	11: 6,549,760 (GRCm39)		probably benign	Het
Ncapd2	CTT	CTTGGTT	6: 125,150,559 (GRCm39)		probably benign	Homo
Nelfe	GACCGGGATCGAGACAGAGAC	GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC	17: 35,073,046 (GRCm39)		probably benign	Homo
Nfxl1	CCGGGG	CCGGGGTCGGGG	5: 72,716,458 (GRCm39)		probably benign	Het
Nkx2-6	C	T	14: 69,412,678 (GRCm39)	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,324,549 (GRCm39)		probably benign	Homo
Noc2l	GC	GCTTC	4: 156,324,557 (GRCm39)		probably benign	Het
Nphp3	CACG	C	9: 103,903,138 (GRCm39)		probably benign	Het
Nrg3	TTG	TTGACACTG	14: 38,119,228 (GRCm39)		probably benign	Homo
Or2ak5	T	G	11: 58,611,197 (GRCm39)	I226L	probably benign	Het
Or51f1e	T	TTAG	7: 102,747,516 (GRCm39)		probably null	Homo
Or51v8	G	GAAC	7: 103,320,174 (GRCm39)		probably null	Homo
Or51v8	CAAA	CAAAAAA	7: 103,320,167 (GRCm39)		probably benign	Homo
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Homo
Osmr	CTC	CTCTTC	15: 6,867,184 (GRCm39)		probably benign	Homo
Patl2	GCT	GCTCCT	2: 121,956,616 (GRCm39)		probably benign	Het
Pdik1l	ACCAC	ACCACCGCCAC	4: 134,006,823 (GRCm39)		probably benign	Homo
Phldb3	GACCC	G	7: 24,328,403 (GRCm39)		probably null	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,270,384 (GRCm39)		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,703,881 (GRCm39)		probably benign	Homo
Polr1g	GGATG	GG	7: 19,091,169 (GRCm39)		probably benign	Homo
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Prag1	GC	GCAAC	8: 36,571,039 (GRCm39)		probably benign	Homo
Prr13	TCC	TCCGCC	15: 102,370,609 (GRCm39)		probably benign	Het
Prtg	GTAAC	G	9: 72,764,363 (GRCm39)		probably benign	Homo
Ptk2b	C	T	14: 66,411,298 (GRCm39)	R411Q	possibly damaging	Het
Ptms	TTC	TTCGTC	6: 124,891,419 (GRCm39)		probably benign	Het
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Rbm33	AGCAGCCGCAGC	AGCAGC	5: 28,599,199 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,384,479 (GRCm39)		probably benign	Homo
Setd1a	TGGTAGTGG	TGGTAGTGGCGGTAGTGG	7: 127,384,485 (GRCm39)		probably benign	Homo
Sfswap	CCACTCAGC	CCACTCAGCGCACTCAGC	5: 129,646,813 (GRCm39)		probably benign	Het
Sfswap	AGCCCACTCGGCC	AGCCCACTCGGCCCACTCGGCC	5: 129,646,819 (GRCm39)		probably benign	Homo
Sh3pxd2b	GT	GTGTCTCT	11: 32,373,064 (GRCm39)		probably benign	Homo
Sh3pxd2b	T	TGTCTTG	11: 32,373,065 (GRCm39)		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,536,128 (GRCm39)		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACCCC	2: 124,996,134 (GRCm39)		probably benign	Homo
Spaca1	GC	GCTCTCTC	4: 34,049,856 (GRCm39)		probably benign	Het
Spag17	AGG	AGGCGG	3: 99,963,570 (GRCm39)		probably benign	Het
Spata31h1	G	GTCATTA	10: 82,126,830 (GRCm39)		probably benign	Homo
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Supt20	CA	CAGCAGAA	3: 54,635,094 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,635,078 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,085 (GRCm39)		probably benign	Het
Syne1	C	A	10: 4,982,969 (GRCm39)	S8652I	probably benign	Homo
Tob1	GCA	GCAACA	11: 94,105,281 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,295 (GRCm39)		probably benign	Het
Tomm5	CTTCCGC	CTTCCGCATTTTCCGC	4: 45,107,977 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	G	GAAA	14: 53,887,214 (GRCm39)		probably benign	Het
Triobp	TCG	TCGCCG	15: 78,877,590 (GRCm39)		probably benign	Homo
Triobp	TCG	TCGGCG	15: 78,877,587 (GRCm39)		probably benign	Het
Tsbp1	GCA	GCATCA	17: 34,679,039 (GRCm39)		probably benign	Het
Tsen2	GAG	GAGAAG	6: 115,537,029 (GRCm39)		probably benign	Het
Ttf2	TC	TCCGC	3: 100,870,476 (GRCm39)		probably benign	Homo
Tusc1	CGCCAC	CGCCACTGCCAC	4: 93,223,540 (GRCm39)		probably benign	Het
Ubtf	CTC	CTCATC	11: 102,197,784 (GRCm39)		probably benign	Het
Utrn	T	TTCCTGTC	10: 12,509,685 (GRCm39)		probably benign	Homo
Vars1	TGG	TGGAGTCCTGGGGGG	17: 35,234,965 (GRCm39)		probably benign	Homo
Vars1	G	GAGTCCTGGGTGC	17: 35,234,967 (GRCm39)		probably benign	Het
Vmn2r99	G	A	17: 19,614,547 (GRCm39)	G756R	probably damaging	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Zc3h13	TGCG	TGCGTGATGAGCG	14: 75,561,039 (GRCm39)		probably benign	Het
Zdhhc16	CACA	CACAACAGGGAAAGCAGTCTGTCAACA	19: 41,930,607 (GRCm39)		probably null	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp335	TCC	TCCCCC	2: 164,749,392 (GRCm39)		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,899,749 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,750 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (GRCm39)		probably null	Het
Zfp986	G	T	4: 145,625,928 (GRCm39)	R196I	probably benign	Het
Zfp992	G	T	4: 146,550,464 (GRCm39)	E62*	probably null	Het

Other mutations in Six3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03096:Six3	APN	17	85,929,365 (GRCm39)	missense	possibly damaging	0.78
IGL03397:Six3	APN	17	85,929,074 (GRCm39)	missense	probably damaging	1.00
FR4304:Six3	UTSW	17	85,928,796 (GRCm39)	small insertion	probably benign
FR4340:Six3	UTSW	17	85,928,784 (GRCm39)	small insertion	probably benign
FR4449:Six3	UTSW	17	85,928,790 (GRCm39)	small insertion	probably benign
FR4589:Six3	UTSW	17	85,928,793 (GRCm39)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,928,786 (GRCm39)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,928,785 (GRCm39)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,928,796 (GRCm39)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,928,793 (GRCm39)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,928,791 (GRCm39)	small insertion	probably benign
FR4737:Six3	UTSW	17	85,928,790 (GRCm39)	small insertion	probably benign
FR4976:Six3	UTSW	17	85,928,799 (GRCm39)	small insertion	probably benign
FR4976:Six3	UTSW	17	85,928,786 (GRCm39)	small insertion	probably benign
R0238:Six3	UTSW	17	85,928,818 (GRCm39)	missense	probably damaging	1.00
R1264:Six3	UTSW	17	85,929,285 (GRCm39)	missense	probably damaging	0.96
R2903:Six3	UTSW	17	85,931,283 (GRCm39)	missense	probably damaging	0.96
R2916:Six3	UTSW	17	85,929,061 (GRCm39)	missense	probably benign	0.25
R4994:Six3	UTSW	17	85,928,720 (GRCm39)	missense	possibly damaging	0.91
R5393:Six3	UTSW	17	85,931,270 (GRCm39)	missense	possibly damaging	0.93
R6524:Six3	UTSW	17	85,929,398 (GRCm39)	missense	probably damaging	1.00
R8998:Six3	UTSW	17	85,931,164 (GRCm39)	missense	probably benign	0.01
R8999:Six3	UTSW	17	85,931,164 (GRCm39)	missense	probably benign	0.01
RF003:Six3	UTSW	17	85,928,798 (GRCm39)	small insertion	probably benign
RF010:Six3	UTSW	17	85,928,783 (GRCm39)	small insertion	probably benign
RF011:Six3	UTSW	17	85,928,796 (GRCm39)	small insertion	probably benign
RF012:Six3	UTSW	17	85,928,796 (GRCm39)	small insertion	probably benign
RF014:Six3	UTSW	17	85,928,784 (GRCm39)	small insertion	probably benign
RF015:Six3	UTSW	17	85,928,798 (GRCm39)	small insertion	probably benign
RF022:Six3	UTSW	17	85,928,784 (GRCm39)	small insertion	probably benign
RF054:Six3	UTSW	17	85,928,783 (GRCm39)	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