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

AREC3, TrexBF

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

73146383-73160201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73155727 bp (GRCm39)

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: 63,070,120 (GRCm39)	R129L	probably damaging	Het
Arhgef28	C	T	13: 98,101,943 (GRCm39)	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,265,665 (GRCm39)	V1569A	probably damaging	Het
Atr	T	A	9: 95,748,747 (GRCm39)	S431T	probably benign	Het
Cdh11	T	C	8: 103,360,953 (GRCm39)	D795G	possibly damaging	Het
Crygf	T	C	1: 65,967,130 (GRCm39)	S85P	probably benign	Het
Dip2c	T	A	13: 9,709,314 (GRCm39)	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,454,509 (GRCm39)	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,461,795 (GRCm39)	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,314,013 (GRCm39)	S576C	probably damaging	Het
Frmd8	T	C	19: 5,919,546 (GRCm39)	D167G	probably damaging	Het
Gm5105	G	A	3: 137,755,319 (GRCm39)	T89I	unknown	Het
Grhl1	C	T	12: 24,625,996 (GRCm39)	S35L	possibly damaging	Het
Gsn	A	G	2: 35,183,518 (GRCm39)	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,029,661 (GRCm39)	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,431,135 (GRCm39)	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,275,985 (GRCm39)	Y51C	probably damaging	Het
Iqcj	T	A	3: 67,948,580 (GRCm39)	Y21*	probably null	Het
Kcnc4	T	C	3: 107,366,178 (GRCm39)	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,756,160 (GRCm39)	G129W	probably damaging	Het
Kcnq2	T	A	2: 180,723,517 (GRCm39)	R620*	probably null	Het
Klk13	C	A	7: 43,376,126 (GRCm39)	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Lamc2	T	A	1: 153,012,488 (GRCm39)	M729L	probably benign	Het
Lyst	T	G	13: 13,918,044 (GRCm39)		probably null	Het
Med13l	G	A	5: 118,890,051 (GRCm39)	R1909H	probably damaging	Het
Mstn	T	A	1: 53,103,243 (GRCm39)	L193Q	possibly damaging	Het
Mylk	T	C	16: 34,820,796 (GRCm39)	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,647,233 (GRCm39)	M547L	probably damaging	Het
Nckap5	A	G	1: 125,952,785 (GRCm39)	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118 (GRCm38)	Y189C	probably damaging	Het
Oosp3	T	A	19: 11,676,783 (GRCm39)	D47E	probably benign	Het
Or14j8	A	T	17: 38,263,393 (GRCm39)	I174N	probably damaging	Het
Or5d37	T	A	2: 87,923,600 (GRCm39)	I227F	probably benign	Het
Or5h25	A	G	16: 58,930,970 (GRCm39)	M1T	probably null	Het
Or5p66	T	G	7: 107,885,551 (GRCm39)	I261L	probably benign	Het
Pcdh15	G	T	10: 74,302,186 (GRCm39)	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,840,625 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,711,838 (GRCm39)	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plscr1	T	A	9: 92,146,715 (GRCm39)	V119D	probably damaging	Het
Prss56	A	T	1: 87,113,670 (GRCm39)	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,214,884 (GRCm39)	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,037,159 (GRCm39)	S7Y	probably benign	Het
Rnf31	T	C	14: 55,829,690 (GRCm39)	L85P	probably damaging	Het
Rptn	T	C	3: 93,305,207 (GRCm39)	C847R	possibly damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Sned1	T	C	1: 93,212,143 (GRCm39)	V1115A	probably damaging	Het
Spen	T	C	4: 141,220,755 (GRCm39)	K401E	unknown	Het
Srbd1	T	A	17: 86,443,843 (GRCm39)	R128W	possibly damaging	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627 (GRCm39)	T230P	probably benign	Het
Thumpd2	G	T	17: 81,363,326 (GRCm39)	S47*	probably null	Het
Tmprss11a	C	T	5: 86,576,429 (GRCm39)	V141I	probably damaging	Het
Tmprss15	T	C	16: 78,821,741 (GRCm39)	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,333,914 (GRCm39)	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,523,610 (GRCm39)	W90R	probably benign	Het
Utp25	A	G	1: 192,797,163 (GRCm39)	I563T	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,272,536 (GRCm39)		probably null	Het
Zfp646	C	A	7: 127,481,494 (GRCm39)	Q1224K	probably benign	Het

Other mutations in Six4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01635:Six4	APN	12	73,155,971 (GRCm39)	missense	probably benign	0.32
IGL02045:Six4	APN	12	73,155,429 (GRCm39)	missense	probably benign	0.04
IGL02678:Six4	APN	12	73,159,408 (GRCm39)	missense	probably damaging	1.00
R2473:Six4	UTSW	12	73,150,949 (GRCm39)	missense	probably benign	0.00
R3409:Six4	UTSW	12	73,159,657 (GRCm39)	missense	probably damaging	0.98
R3410:Six4	UTSW	12	73,159,657 (GRCm39)	missense	probably damaging	0.98
R3411:Six4	UTSW	12	73,159,657 (GRCm39)	missense	probably damaging	0.98
R4175:Six4	UTSW	12	73,155,605 (GRCm39)	missense	probably damaging	1.00
R4176:Six4	UTSW	12	73,155,605 (GRCm39)	missense	probably damaging	1.00
R4296:Six4	UTSW	12	73,150,899 (GRCm39)	missense	probably damaging	1.00
R4303:Six4	UTSW	12	73,159,314 (GRCm39)	missense	possibly damaging	0.91
R5013:Six4	UTSW	12	73,150,400 (GRCm39)	missense	probably benign	0.37
R5782:Six4	UTSW	12	73,150,832 (GRCm39)	missense	probably benign	0.02
R5794:Six4	UTSW	12	73,159,124 (GRCm39)	missense	possibly damaging	0.82
R6429:Six4	UTSW	12	73,150,247 (GRCm39)	missense	probably damaging	1.00
R6650:Six4	UTSW	12	73,150,299 (GRCm39)	missense	probably benign	0.04
R7464:Six4	UTSW	12	73,159,304 (GRCm39)	missense	possibly damaging	0.89
R7832:Six4	UTSW	12	73,159,408 (GRCm39)	missense	probably damaging	1.00
R7871:Six4	UTSW	12	73,151,013 (GRCm39)	critical splice acceptor site	probably benign
R7872:Six4	UTSW	12	73,151,013 (GRCm39)	critical splice acceptor site	probably benign
R7873:Six4	UTSW	12	73,151,013 (GRCm39)	critical splice acceptor site	probably benign
R7956:Six4	UTSW	12	73,150,535 (GRCm39)	missense	possibly damaging	0.83
R8266:Six4	UTSW	12	73,155,423 (GRCm39)	missense	possibly damaging	0.53
R8728:Six4	UTSW	12	73,159,180 (GRCm39)	missense	probably benign	0.00
R9065:Six4	UTSW	12	73,159,498 (GRCm39)	missense	possibly damaging	0.56
R9103:Six4	UTSW	12	73,155,964 (GRCm39)	missense	probably damaging	1.00
R9147:Six4	UTSW	12	73,155,681 (GRCm39)	missense	probably benign	0.07
R9148:Six4	UTSW	12	73,155,681 (GRCm39)	missense	probably benign	0.07
R9430:Six4	UTSW	12	73,150,719 (GRCm39)	missense	possibly damaging	0.87
RF012:Six4	UTSW	12	73,150,356 (GRCm39)	frame shift	probably null
RF013:Six4	UTSW	12	73,150,356 (GRCm39)	frame shift	probably null
RF014:Six4	UTSW	12	73,150,356 (GRCm39)	frame shift	probably null
RF015:Six4	UTSW	12	73,150,356 (GRCm39)	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