Mutagenetix > Incidental Mutation

Incidental Mutation 'RF012:Six4'

603286

Institutional Source

Beutler Lab

Gene Symbol

Six4

Ensembl Gene

ENSMUSG00000034460

Gene Name

sine oculis-related homeobox 4

Synonyms

AREC3, TrexBF

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF012 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

73146383-73160201 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TG to T at 73150356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043208] [ENSMUST00000175693]

AlphaFold

Q61321

Predicted Effect

probably null
Transcript: ENSMUST00000043208

SMART Domains

Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460

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

SMART Domains

Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

89% (56/63)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,453,552 (GRCm39)	L123Q	probably damaging	Het
AI837181	GCG	GCGTCG	19: 5,475,255 (GRCm39)		probably benign	Het
Akr1e1	T	A	13: 4,645,125 (GRCm39)	N242I	probably damaging	Het
Ankrd7	G	C	6: 18,869,274 (GRCm39)	E194Q	possibly damaging	Het
Ano3	A	G	2: 110,527,868 (GRCm39)	F517L	possibly damaging	Het
Arhgef4	CAAA	C	1: 34,763,565 (GRCm39)		probably benign	Het
Arid1a	AGACGACGA	AGACGA	4: 133,480,131 (GRCm39)		probably benign	Het
Atp2c2	G	T	8: 120,472,253 (GRCm39)	A436S	possibly damaging	Het
BC004004	T	A	17: 29,501,782 (GRCm39)	V107E	probably benign	Het
Begain	CGCCGC	CGCCGCAGCCGC	12: 108,999,353 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Chi3l1	A	T	1: 134,112,909 (GRCm39)	T122S	probably benign	Het
Clic6	A	G	16: 92,327,697 (GRCm39)	S501G	possibly damaging	Het
Col6a3	A	C	1: 90,738,282 (GRCm39)	L1079R	probably damaging	Het
Coro2a	T	C	4: 46,542,336 (GRCm39)	K346E	probably damaging	Het
Ctsf	A	G	19: 4,908,694 (GRCm39)	N325D	probably benign	Het
Dchs2	A	G	3: 83,262,375 (GRCm39)	E2881G	probably benign	Het
Dnah14	A	G	1: 181,455,463 (GRCm39)	T863A	probably damaging	Het
Dnai2	A	T	11: 114,641,242 (GRCm39)	I356F	probably damaging	Het
Dusp4	ACGGCGGCGGCGGC	ACGGCGGCGGC	8: 35,274,953 (GRCm39)		probably benign	Het
Efhb	T	C	17: 53,720,545 (GRCm39)	N647D	probably damaging	Het
Efhd2	CCG	CCGACGGCG	4: 141,602,079 (GRCm39)		probably benign	Het
Eif3i	A	G	4: 129,485,872 (GRCm39)	Y318H	probably damaging	Het
Fbxl5	T	C	5: 43,930,847 (GRCm39)	H80R	probably damaging	Het
Gab3	TCT	TCTGCT	X: 74,043,626 (GRCm39)		probably benign	Het
Gne	G	T	4: 44,060,045 (GRCm39)	A147D	probably damaging	Het
Gpi1	A	T	7: 33,901,902 (GRCm39)	H538Q	probably damaging	Het
Itih2	T	C	2: 10,122,214 (GRCm39)	H229R	possibly damaging	Het
Kdm7a	A	G	6: 39,183,447 (GRCm39)	V41A	probably damaging	Het
Krtap28-10	GCCACA	GCCACACCCACA	1: 83,019,857 (GRCm39)		probably benign	Het
Lipa	A	T	19: 34,486,498 (GRCm39)	S141R	probably damaging	Het
Medag	G	T	5: 149,335,459 (GRCm39)	C6F	probably benign	Het
Nefh	GGCCTCT	GGCCTCTCCTGGGGACTTTGCCTCT	11: 4,891,055 (GRCm39)		probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Opa1	A	G	16: 29,432,784 (GRCm39)	I482M	probably damaging	Het
Or12e14	A	T	2: 87,677,103 (GRCm39)	I163L	probably benign	Het
Pgf	T	C	12: 85,216,316 (GRCm39)		probably null	Het
Pkhd1l1	TTTT	TTTTTTTTTTTATTT	15: 44,421,901 (GRCm39)		probably benign	Het
Pou2f1	G	A	1: 165,740,800 (GRCm39)	T134I	unknown	Het
Pramel32	T	A	4: 88,546,006 (GRCm39)	R445S	probably damaging	Het
Prss52	A	G	14: 64,350,922 (GRCm39)	S236G	probably damaging	Het
Rpsa	A	G	9: 119,960,105 (GRCm39)	T223A	probably benign	Het
Shprh	A	G	10: 11,040,585 (GRCm39)	N686S	probably benign	Het
Six3	CGG	CGGTGG	17: 85,928,796 (GRCm39)		probably benign	Het
Slc22a27	C	T	19: 7,903,949 (GRCm39)	G63S	probably benign	Het
Tmcc2	G	T	1: 132,288,756 (GRCm39)	N310K	probably damaging	Het
Tmem144	A	T	3: 79,729,961 (GRCm39)	L263Q	probably damaging	Het
Tpra1	T	C	6: 88,886,324 (GRCm39)	V101A	probably damaging	Het
Troap	T	C	15: 98,973,281 (GRCm39)	S16P	probably benign	Het
Ttn	T	C	2: 76,543,915 (GRCm39)	T33024A	probably benign	Het
Usp2	A	ACATGTGACCTGTTCTTCACTTACT	9: 44,000,427 (GRCm39)		probably benign	Het
Was	CTCCTCCT	C	X: 7,952,470 (GRCm39)		probably null	Het
Zfp672	A	G	11: 58,206,938 (GRCm39)	V461A	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
R7018:Six4	UTSW	12	73,155,727 (GRCm39)	missense	probably benign	0.01
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
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'- TGCTCCTGTTAAAGCAGAGAAGG -3'
(R):5'- GCAACCCTTCAGAACTGTTCC -3'

Sequencing Primer
(F):5'- GAGGGATGTGGAGTGAATCG -3'
(R):5'- ATTCCGGGGCAAGACCTATTGTC -3'

Posted On

2019-12-04