Mutagenetix > Incidental Mutation

Incidental Mutation 'R9103:Six4'

691840

Institutional Source

Beutler Lab

Gene Symbol

Six4

Ensembl Gene

ENSMUSG00000034460

Gene Name

sine oculis-related homeobox 4

Synonyms

AREC3, TrexBF

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9103 (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 73155964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 334 (I334M)

Ref Sequence

ENSEMBL: ENSMUSP00000036150 (fasta)

Gene Model

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

AlphaFold

Q61321

Predicted Effect

probably damaging
Transcript: ENSMUST00000043208
AA Change: I334M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460
AA Change: I334M

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: I326M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460
AA Change: I326M

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: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,454,558 (GRCm39)	C458*	probably null	Het
Adgra2	G	A	8: 27,603,436 (GRCm39)	G407D	probably damaging	Het
Aox4	G	A	1: 58,296,441 (GRCm39)	G1046E	probably damaging	Het
Arhgap27	A	G	11: 103,251,540 (GRCm39)	Y63H	probably damaging	Het
Ascl3	A	T	7: 109,327,127 (GRCm39)	M64K	probably benign	Het
Cacna2d3	G	A	14: 29,068,971 (GRCm39)	T252I	probably damaging	Het
Capn7	A	G	14: 31,091,732 (GRCm39)	T710A	probably benign	Het
Carmil1	A	G	13: 24,295,836 (GRCm39)	C393R	probably benign	Het
Chd5	A	C	4: 152,461,444 (GRCm39)	E1215A	possibly damaging	Het
Cntnap1	A	G	11: 101,072,094 (GRCm39)	N449S	probably benign	Het
Cpz	G	A	5: 35,675,054 (GRCm39)	S65L	probably benign	Het
Cyp2c68	T	A	19: 39,727,625 (GRCm39)	N118I	possibly damaging	Het
Ddx25	A	T	9: 35,458,085 (GRCm39)	F345I	probably benign	Het
Dennd2d	T	C	3: 106,397,684 (GRCm39)	Y161H		Het
Egfl8	C	T	17: 34,833,210 (GRCm39)	D179N	probably benign	Het
Eif2a	A	G	3: 58,452,461 (GRCm39)	N174S		Het
Farp1	C	T	14: 121,509,104 (GRCm39)	H643Y	possibly damaging	Het
Fat1	G	T	8: 45,404,850 (GRCm39)	V534L	probably benign	Het
Fbxo48	A	G	11: 16,903,556 (GRCm39)	T61A	probably benign	Het
Fnbp4	A	G	2: 90,608,187 (GRCm39)	T970A	probably benign	Het
Foxd1	T	A	13: 98,491,763 (GRCm39)	D212E	possibly damaging	Het
Fstl4	C	A	11: 52,664,696 (GRCm39)	H9N	probably benign	Het
Fyb1	A	G	15: 6,673,232 (GRCm39)	D622G	possibly damaging	Het
Gm4787	T	A	12: 81,425,489 (GRCm39)	H223L	probably benign	Het
Grin3a	A	G	4: 49,771,179 (GRCm39)	V531A	probably damaging	Het
Gzmb	T	C	14: 56,498,622 (GRCm39)	D42G	probably benign	Het
Herc2	T	A	7: 55,784,803 (GRCm39)	Y1416N	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hsd17b6	A	G	10: 127,833,876 (GRCm39)	W2R	probably damaging	Het
Hspa4l	T	C	3: 40,715,349 (GRCm39)		probably null	Het
Igtp	A	G	11: 58,097,726 (GRCm39)	E299G		Het
Klhl28	T	C	12: 64,990,300 (GRCm39)	D547G	possibly damaging	Het
Leng8	G	C	7: 4,146,897 (GRCm39)	R473P	probably damaging	Het
Lin37	T	A	7: 30,257,055 (GRCm39)	N53Y	possibly damaging	Het
Lrp1	G	A	10: 127,430,979 (GRCm39)	Q357*	probably null	Het
Lrrfip2	A	T	9: 111,034,840 (GRCm39)	K176N	probably damaging	Het
Ltbp4	A	G	7: 27,028,186 (GRCm39)	S390P	unknown	Het
Map3k2	G	A	18: 32,353,625 (GRCm39)	R465H	possibly damaging	Het
Mthfd1	T	A	12: 76,350,517 (GRCm39)	V665E	probably damaging	Het
Myh3	A	T	11: 66,989,451 (GRCm39)	I1524F	probably benign	Het
Myo1g	A	G	11: 6,466,153 (GRCm39)	S339P	possibly damaging	Het
Nf1	A	G	11: 79,450,332 (GRCm39)	K506R	probably damaging	Het
Nudt21	A	G	8: 94,746,321 (GRCm39)	I225T	probably benign	Het
Or4c31	A	G	2: 88,291,942 (GRCm39)	K105R	probably benign	Het
Or56b1b	A	T	7: 108,164,780 (GRCm39)	L74Q	probably benign	Het
Or5g9	T	A	2: 85,552,527 (GRCm39)	Y259*	probably null	Het
Or8b3	A	G	9: 38,314,518 (GRCm39)	Y116C	probably damaging	Het
Or8c18	A	T	9: 38,203,969 (GRCm39)	I243F	probably damaging	Het
Pax2	C	T	19: 44,806,968 (GRCm39)	T299I	probably benign	Het
Pde4dip	C	T	3: 97,749,044 (GRCm39)	S99N	probably damaging	Het
Pdlim5	T	A	3: 142,010,174 (GRCm39)	H147L	possibly damaging	Het
Pfkfb3	T	A	2: 11,487,381 (GRCm39)	Y343F	probably damaging	Het
Phf10	A	G	17: 15,174,382 (GRCm39)	I232T	probably damaging	Het
Plcb3	C	T	19: 6,936,288 (GRCm39)	G745D	probably benign	Het
Pramel11	G	A	4: 143,624,381 (GRCm39)	L39F	probably damaging	Het
Recql	C	A	6: 142,322,515 (GRCm39)	C129F	possibly damaging	Het
Rrp1	C	T	10: 78,240,876 (GRCm39)	D288N	unknown	Het
Samd4	T	C	14: 47,254,066 (GRCm39)	Y177H	probably benign	Het
Sim1	T	A	10: 50,785,525 (GRCm39)	M198K	possibly damaging	Het
Slc27a6	T	C	18: 58,705,268 (GRCm39)	S217P	probably damaging	Het
Slc2a4	T	A	11: 69,836,218 (GRCm39)	K264N	probably benign	Het
Slc8b1	A	T	5: 120,670,939 (GRCm39)	I476F	probably benign	Het
Smcp	T	C	3: 92,491,838 (GRCm39)	D3G	unknown	Het
Tagap	A	T	17: 8,152,335 (GRCm39)	M507L	probably benign	Het
Thap11	A	G	8: 106,582,780 (GRCm39)	E263G	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Top3a	T	G	11: 60,654,253 (GRCm39)		probably null	Het
Ube2q2l	T	A	6: 136,378,011 (GRCm39)	D273V	probably benign	Het
Vmn1r31	A	G	6: 58,449,073 (GRCm39)	V264A	unknown	Het
Vti1a	A	C	19: 55,316,865 (GRCm39)	M81L	probably benign	Het
Wscd1	T	C	11: 71,674,245 (GRCm39)		probably null	Het
Zfp595	T	C	13: 67,464,676 (GRCm39)	E532G	probably damaging	Het
Zranb1	T	A	7: 132,584,167 (GRCm39)	V539D	probably 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
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
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'- TCACATCCTGGGAGGTAGATCC -3'
(R):5'- CTGAACAGCGAATCGGATGG -3'

Sequencing Primer
(F):5'- AGATCCCAGGATGTCTGTCATG -3'
(R):5'- CAGCGAATCGGATGGCAACC -3'

Posted On

2021-12-30