Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Six4'

545459

Institutional Source

Beutler Lab

Gene Symbol

Six4

Ensembl Gene

ENSMUSG00000034460

Gene Name

sine oculis-related homeobox 4

Synonyms

TrexBF, AREC3

MMRRC Submission

045119-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73099609-73113456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73108953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 413 (E413D)

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: E413D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460
AA Change: E413D

Domain	Start	End	E-Value	Type
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
AA Change: E405D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460
AA Change: E405D

Domain	Start	End	E-Value	Type
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

0.0579

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	probably benign	Het

Other mutations in Six4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01635:Six4	APN	12	73,109,197 (GRCm38)	missense	probably benign	0.32
IGL02045:Six4	APN	12	73,108,655 (GRCm38)	missense	probably benign	0.04
IGL02678:Six4	APN	12	73,112,634 (GRCm38)	missense	probably damaging	1.00
R2473:Six4	UTSW	12	73,104,175 (GRCm38)	missense	probably benign	0.00
R3409:Six4	UTSW	12	73,112,883 (GRCm38)	missense	probably damaging	0.98
R3410:Six4	UTSW	12	73,112,883 (GRCm38)	missense	probably damaging	0.98
R3411:Six4	UTSW	12	73,112,883 (GRCm38)	missense	probably damaging	0.98
R4175:Six4	UTSW	12	73,108,831 (GRCm38)	missense	probably damaging	1.00
R4176:Six4	UTSW	12	73,108,831 (GRCm38)	missense	probably damaging	1.00
R4296:Six4	UTSW	12	73,104,125 (GRCm38)	missense	probably damaging	1.00
R4303:Six4	UTSW	12	73,112,540 (GRCm38)	missense	possibly damaging	0.91
R5013:Six4	UTSW	12	73,103,626 (GRCm38)	missense	probably benign	0.37
R5782:Six4	UTSW	12	73,104,058 (GRCm38)	missense	probably benign	0.02
R5794:Six4	UTSW	12	73,112,350 (GRCm38)	missense	possibly damaging	0.82
R6429:Six4	UTSW	12	73,103,473 (GRCm38)	missense	probably damaging	1.00
R6650:Six4	UTSW	12	73,103,525 (GRCm38)	missense	probably benign	0.04
R7464:Six4	UTSW	12	73,112,530 (GRCm38)	missense	possibly damaging	0.89
R7832:Six4	UTSW	12	73,112,634 (GRCm38)	missense	probably damaging	1.00
R7871:Six4	UTSW	12	73,104,239 (GRCm38)	critical splice acceptor site	probably benign
R7872:Six4	UTSW	12	73,104,239 (GRCm38)	critical splice acceptor site	probably benign
R7873:Six4	UTSW	12	73,104,239 (GRCm38)	critical splice acceptor site	probably benign
R7956:Six4	UTSW	12	73,103,761 (GRCm38)	missense	possibly damaging	0.83
R8266:Six4	UTSW	12	73,108,649 (GRCm38)	missense	possibly damaging	0.53
R8728:Six4	UTSW	12	73,112,406 (GRCm38)	missense	probably benign	0.00
R9065:Six4	UTSW	12	73,112,724 (GRCm38)	missense	possibly damaging	0.56
R9103:Six4	UTSW	12	73,109,190 (GRCm38)	missense	probably damaging	1.00
R9147:Six4	UTSW	12	73,108,907 (GRCm38)	missense	probably benign	0.07
R9148:Six4	UTSW	12	73,108,907 (GRCm38)	missense	probably benign	0.07
R9430:Six4	UTSW	12	73,103,945 (GRCm38)	missense	possibly damaging	0.87
RF012:Six4	UTSW	12	73,103,582 (GRCm38)	frame shift	probably null
RF013:Six4	UTSW	12	73,103,582 (GRCm38)	frame shift	probably null
RF014:Six4	UTSW	12	73,103,582 (GRCm38)	frame shift	probably null
RF015:Six4	UTSW	12	73,103,582 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TAGGGATCTGGACAATGCCATAC -3'
(R):5'- ACCTGCAAGTACTTCACCTGTC -3'

Sequencing Primer
(F):5'- GCCATACTGGTTAATTTGCACG -3'
(R):5'- AGTACTTCACCTGTCTTCCTTAATGG -3'

Posted On

2019-05-13