Mutagenetix > Incidental Mutation

Incidental Mutation 'RF011:Six3'

603233

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 #

RF011 (G1)

Quality Score

146.467

Status

Not validated

Chromosome

Chromosomal Location

85613608-85629302 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CGG to CGGGGG at 85621368 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: ENSMUST00000177487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183495

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,743,609	K672R	possibly damaging	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,913,573		probably benign	Het
A030005L19Rik	TGCTG	TGCTGTGGCGGCTG	1: 82,913,586		probably benign	Het
AI837181	GCG	GCGTCG	19: 5,425,236		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571		probably benign	Het
Aqp2	T	C	15: 99,583,872	S216P	probably damaging	Het
Cacna1f	GGA	GGAAGA	X: 7,620,056		probably benign	Het
Ccdc170	CCA	CCAGCA	10: 4,561,018		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cela2a	T	C	4: 141,821,715	N117D	probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,500,848		probably benign	Het
Cyb5r2	A	T	7: 107,751,168	S235R	probably benign	Het
Dnmt1	CACAGTTCCTACCTCGTT	CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT	9: 20,910,128		probably null	Het
Dnmt1	TT	TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT	9: 20,910,144		probably null	Het
E4f1	CCG	CCGTCG	17: 24,455,186		probably benign	Het
Fam171b	TCCAGCA	TCCAGCACCAGCA	2: 83,812,873		probably benign	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,271,316		probably benign	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,542,699		probably null	Het
Flii	G	A	11: 60,716,243	A969V	probably benign	Het
Fscb	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	12: 64,472,994		probably benign	Het
Gas1	G	GAAA	13: 60,176,531		probably benign	Het
Grip1	A	G	10: 119,931,315	D115G	probably null	Het
Guca2b	G	T	4: 119,656,847	T89N	possibly damaging	Het
Hcn4	T	A	9: 58,859,915	S920T	unknown	Het
Heatr1	A	G	13: 12,407,544	M484V	probably benign	Het
Iba57	G	T	11: 59,163,612	A27E	probably benign	Het
Ifi207	G	C	1: 173,729,121	L684V	not run	Het
Ints13	T	C	6: 146,556,240	H380R	probably damaging	Het
Jmjd1c	C	T	10: 67,220,199	T466I	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kif12	C	CCTCCACCCGGCGGGG	4: 63,171,427		probably benign	Het
Kmt2c	A	T	5: 25,338,459	D1399E	probably damaging	Het
Macf1	A	T	4: 123,473,855	L2371Q	probably damaging	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,273,610		probably benign	Het
Med12l	GCA	GCATCA	3: 59,275,980		probably benign	Het
Mgam	C	A	6: 40,757,436	Q1472K	probably damaging	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,149,345		probably benign	Het
Nipal1	A	G	5: 72,666,813	N167D	probably damaging	Het
Olfr1105	T	A	2: 87,034,041	Y60F	probably damaging	Het
Olfr1426	C	T	19: 12,088,247	V182I	probably benign	Het
Osbpl3	CCTGCA	C	6: 50,348,138		probably benign	Het
Phf20	CCCCCCCCC	CCCCCCCCCCCCCCCC	2: 156,304,620		probably benign	Het
Phf20	CCCCCCCC	CCCCCCCCCCCCCCC	2: 156,304,621		probably benign	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rbm33	CCAGCCGCAGC	CCAGC	5: 28,394,181		probably benign	Het
Rubcnl	T	C	14: 75,044,438	F445S	probably damaging	Het
S100a10	TTTTTTTA	T	3: 93,564,234		probably benign	Het
Sbp	AA	AAAATGCTGACAACGGA	17: 23,945,354		probably benign	Het
Sec14l3	A	C	11: 4,067,963	Q81P	possibly damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,343		probably benign	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,836,957		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739		probably benign	Het
Tmem28	CGCCGC	CGCCGCAGCCGC	X: 99,821,361		probably benign	Het
Tox2	A	G	2: 163,225,564	I68V	probably benign	Het
Triml2	G	T	8: 43,183,164		probably benign	Het
Tspan33	A	G	6: 29,716,730	Y162C	probably damaging	Het
Zfp384	GGCCCAGGCCCA	GGCCCAGGCCCAAGCCCAGGCCCA	6: 125,036,476		probably benign	Het
Zfp948	T	C	17: 21,588,312	Y589H	probably damaging	Het
Zic1	T	C	9: 91,364,330	I230V	probably benign	Het

Other mutations in Six3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03096:Six3	APN	17	85621937	missense	possibly damaging	0.78
IGL03397:Six3	APN	17	85621646	missense	probably damaging	1.00
FR4304:Six3	UTSW	17	85621368	small insertion	probably benign
FR4340:Six3	UTSW	17	85621356	small insertion	probably benign
FR4449:Six3	UTSW	17	85621362	small insertion	probably benign
FR4548:Six3	UTSW	17	85621363	small insertion	probably benign
FR4589:Six3	UTSW	17	85621365	small insertion	probably benign
FR4737:Six3	UTSW	17	85621357	small insertion	probably benign
FR4737:Six3	UTSW	17	85621358	small insertion	probably benign
FR4737:Six3	UTSW	17	85621362	small insertion	probably benign
FR4737:Six3	UTSW	17	85621363	small insertion	probably benign
FR4737:Six3	UTSW	17	85621365	small insertion	probably benign
FR4737:Six3	UTSW	17	85621368	small insertion	probably benign
FR4976:Six3	UTSW	17	85621358	small insertion	probably benign
FR4976:Six3	UTSW	17	85621371	small insertion	probably benign
R0238:Six3	UTSW	17	85621390	missense	probably damaging	1.00
R1264:Six3	UTSW	17	85621857	missense	probably damaging	0.96
R2903:Six3	UTSW	17	85623855	missense	probably damaging	0.96
R2916:Six3	UTSW	17	85621633	missense	probably benign	0.25
R4994:Six3	UTSW	17	85621292	missense	possibly damaging	0.91
R5393:Six3	UTSW	17	85623842	missense	possibly damaging	0.93
R6524:Six3	UTSW	17	85621970	missense	probably damaging	1.00
R8998:Six3	UTSW	17	85623736	missense	probably benign	0.01
R8999:Six3	UTSW	17	85623736	missense	probably benign	0.01
RF003:Six3	UTSW	17	85621370	small insertion	probably benign
RF010:Six3	UTSW	17	85621355	small insertion	probably benign
RF012:Six3	UTSW	17	85621368	small insertion	probably benign
RF014:Six3	UTSW	17	85621356	small insertion	probably benign
RF015:Six3	UTSW	17	85621370	small insertion	probably benign
RF022:Six3	UTSW	17	85621356	small insertion	probably benign
RF054:Six3	UTSW	17	85621355	small insertion	probably benign

Predicted Primers

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

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

Posted On

2019-12-04