Mutagenetix > Incidental Mutation

Incidental Mutation 'R7832:Six4'

605726

Institutional Source

Beutler Lab

Gene Symbol

Six4

Ensembl Gene

ENSMUSG00000034460

Gene Name

sine oculis-related homeobox 4

Synonyms

AREC3, TrexBF

MMRRC Submission

045886-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73146383-73160201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73159408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 176 (Y176C)

Ref Sequence

ENSEMBL: ENSMUSP00000135699 (fasta)

Gene Model

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

AlphaFold

Q61321

Predicted Effect

probably damaging
Transcript: ENSMUST00000043208
AA Change: Y184C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460
AA Change: Y184C

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 damaging
Transcript: ENSMUST00000175693
AA Change: Y176C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460
AA Change: Y176C

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (78/80)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	G	A	5: 135,038,654 (GRCm39)	C30Y	probably benign	Het
Akr1c20	C	T	13: 4,562,671 (GRCm39)	V95M	probably damaging	Het
Ano7	A	G	1: 93,322,195 (GRCm39)	D401G	probably benign	Het
Arhgef10l	G	A	4: 140,305,616 (GRCm39)	T176I	possibly damaging	Het
Armc2	A	C	10: 41,842,792 (GRCm39)	V337G	probably damaging	Het
Atp6v0d2	T	A	4: 19,922,400 (GRCm39)	Y33F	probably benign	Het
Banp	A	G	8: 122,747,291 (GRCm39)	S447G	probably benign	Het
Car8	T	A	4: 8,238,860 (GRCm39)	Y32F	possibly damaging	Het
Ccdc188	C	T	16: 18,036,539 (GRCm39)	P124S	probably damaging	Het
Cdc23	A	T	18: 34,780,072 (GRCm39)	D85E	probably benign	Het
Cnot6l	T	C	5: 96,242,084 (GRCm39)	E213G	possibly damaging	Het
Cntnap4	A	G	8: 113,484,113 (GRCm39)	T389A	probably benign	Het
Cramp1	A	T	17: 25,202,196 (GRCm39)	C429S	probably damaging	Het
Crygn	T	C	5: 24,961,072 (GRCm39)	H78R	probably benign	Het
D630003M21Rik	T	A	2: 158,059,588 (GRCm39)	D104V	probably damaging	Het
Dcaf10	T	G	4: 45,348,196 (GRCm39)	H217Q	probably damaging	Het
Dmrtb1	C	T	4: 107,541,179 (GRCm39)	V61M	probably benign	Het
Dnai1	A	G	4: 41,605,823 (GRCm39)	E271G	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Emsy	G	A	7: 98,289,060 (GRCm39)	T79M	probably damaging	Het
Ergic1	A	G	17: 26,853,449 (GRCm39)	D145G	probably damaging	Het
Fah	A	G	7: 84,244,686 (GRCm39)	V229A	probably damaging	Het
Fam76a	G	A	4: 132,629,342 (GRCm39)	T270I	probably damaging	Het
Fat4	A	T	3: 39,055,353 (GRCm39)	M4191L	probably benign	Het
Fbxl22	G	T	9: 66,418,999 (GRCm39)	R213S	probably benign	Het
Fktn	T	C	4: 53,734,859 (GRCm39)	F127L	probably benign	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,734,096 (GRCm39)	S541T	probably benign	Het
Gm7489	A	G	15: 53,749,402 (GRCm39)	H158R	unknown	Het
Greb1l	G	C	18: 10,542,056 (GRCm39)	E1268Q	probably benign	Het
H2-D1	A	G	17: 35,482,848 (GRCm39)	D126G	probably damaging	Het
Ikzf3	T	A	11: 98,409,525 (GRCm39)	T13S	probably benign	Het
Il23r	T	C	6: 67,400,846 (GRCm39)	T495A	probably benign	Het
Insyn2b	A	G	11: 34,353,034 (GRCm39)	T359A	probably benign	Het
Irf5	A	G	6: 29,535,461 (GRCm39)	T230A	probably benign	Het
Itga2b	A	T	11: 102,348,108 (GRCm39)	I831N	probably damaging	Het
Itgb4	A	G	11: 115,891,087 (GRCm39)	D1168G	probably damaging	Het
Kcnma1	G	T	14: 23,440,991 (GRCm39)	P605Q	probably benign	Het
Larp7	A	T	3: 127,337,916 (GRCm39)	M381K	possibly damaging	Het
Lfng	G	A	5: 140,598,588 (GRCm39)	G269D	probably benign	Het
Liph	T	C	16: 21,780,986 (GRCm39)	I335V	probably benign	Het
Map2k2	A	T	10: 80,954,040 (GRCm39)	I169F	possibly damaging	Het
Mmrn1	T	A	6: 60,964,044 (GRCm39)		probably null	Het
Nod2	A	G	8: 89,387,425 (GRCm39)		probably null	Het
Or51ag1	A	C	7: 103,155,586 (GRCm39)	L189R	probably damaging	Het
Or5b101	T	A	19: 13,005,360 (GRCm39)	Y111F	probably benign	Het
Or9s23	T	C	1: 92,501,219 (GRCm39)	F109L	probably benign	Het
Pcdh20	G	T	14: 88,707,143 (GRCm39)	F52L	probably null	Het
Pkhd1	A	T	1: 20,573,223 (GRCm39)	N1894K	probably damaging	Het
Pla2r1	T	A	2: 60,334,536 (GRCm39)	D412V	possibly damaging	Het
Pole	T	G	5: 110,465,663 (GRCm39)	M1197R	probably benign	Het
Pom121l2	C	T	13: 22,168,048 (GRCm39)	T773I	possibly damaging	Het
Ppp2r5d	A	T	17: 46,995,472 (GRCm39)	M497K	probably benign	Het
Rbm45	G	T	2: 76,206,797 (GRCm39)	V270F	possibly damaging	Het
Ros1	A	T	10: 52,020,957 (GRCm39)	F673I	probably damaging	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Scn4a	A	G	11: 106,212,841 (GRCm39)	I1388T	probably benign	Het
Sema3c	G	A	5: 17,899,845 (GRCm39)	V446I	probably damaging	Het
Slc35a5	T	A	16: 44,964,570 (GRCm39)	K221M	possibly damaging	Het
Slc6a19	A	G	13: 73,841,182 (GRCm39)	I76T	probably damaging	Het
Slfn4	A	G	11: 83,077,419 (GRCm39)	D69G	probably damaging	Het
Smc6	T	C	12: 11,367,844 (GRCm39)	F1085L	probably benign	Het
Spatc1l	A	G	10: 76,398,224 (GRCm39)	S9G	probably benign	Het
Stx8	T	A	11: 68,000,106 (GRCm39)	I182N	probably damaging	Het
Sult2a8	A	T	7: 14,147,596 (GRCm39)	C232S	probably benign	Het
Susd4	G	A	1: 182,686,070 (GRCm39)	A207T	probably benign	Het
Svep1	G	A	4: 58,054,539 (GRCm39)	P3350S	probably benign	Het
Tbx20	A	T	9: 24,685,108 (GRCm39)	S12T	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Umodl1	A	T	17: 31,192,666 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,538 (GRCm39)	F251L	possibly damaging	Het
Vmn1r230	A	G	17: 21,066,933 (GRCm39)	T41A	probably benign	Het
Vmn2r20	A	G	6: 123,362,882 (GRCm39)	L634P	probably damaging	Het
Vmn2r81	A	T	10: 79,129,664 (GRCm39)	R852W	probably damaging	Het
Wdr41	A	T	13: 95,151,701 (GRCm39)	N287I	probably benign	Het
Zfp202	A	G	9: 40,121,758 (GRCm39)	D285G	possibly damaging	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
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'- TGAACCAGTTGCTGACCTGG -3'
(R):5'- ACAACTCCACTCGGAACTTCTG -3'

Sequencing Primer
(F):5'- CCAGTTGCTGACCTGGGTGAG -3'
(R):5'- ACTCGGAACTTCTGGGCAG -3'

Posted On

2019-12-20