Mutagenetix > Incidental Mutation

Incidental Mutation 'RF015:Six4'

603499

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 #

RF015 (G1)

Quality Score

217.468

Status

Not 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: 99.5%
20x: 99.0%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,824 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,822 (GRCm39)		probably benign	Het
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,819 (GRCm39)		probably benign	Het
Abcb4	GAA	G	5: 8,946,594 (GRCm39)		probably null	Het
Agap1	T	A	1: 89,561,985 (GRCm39)	Y214*	probably null	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 122,886,085 (GRCm39)		probably benign	Het
Arid1a	AGGC	A	4: 133,480,142 (GRCm39)		probably benign	Het
Bco2	A	G	9: 50,457,297 (GRCm39)	F82L	probably damaging	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAGTATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGGGGCTGTGGCTG	19: 47,129,695 (GRCm39)		probably benign	Het
Capn9	T	C	8: 125,345,221 (GRCm39)	F683L	probably benign	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 119,963,794 (GRCm39)		probably benign	Het
Cfap251	GGAGGAGGAGGAG	GGAGGAGGAGGAGGAG	5: 123,392,305 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,631,997 (GRCm39)		probably benign	Het
Chga	AGC	AGCGGC	12: 102,527,679 (GRCm39)		probably benign	Het
Cyb5r4	GACACA	GACACAGTGCCCAAGGATGTGACATACACA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyb5r4	CTGCCCAGGGA	CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA	9: 86,922,491 (GRCm39)		probably benign	Het
Cyria	T	A	12: 12,419,939 (GRCm39)	S294R	probably benign	Het
Dnah10	G	A	5: 124,895,141 (GRCm39)	D3557N	probably damaging	Het
Dnmt1	GGAGCACAGTTCCTACCTCGTT	GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT	9: 20,821,420 (GRCm39)		probably null	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Garin5a	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,149,946 (GRCm39)		probably null	Het
Gatad1	A	T	5: 3,697,523 (GRCm39)	C33S	possibly damaging	Het
H2-DMb1	A	G	17: 34,374,476 (GRCm39)	Y42C	probably damaging	Het
Hars2	G	T	18: 36,918,998 (GRCm39)	R86L	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGCGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCGGCCAC	3: 92,925,455 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,447 (GRCm39)		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,875,755 (GRCm39)		probably null	Het
Mucl2	T	A	15: 103,927,696 (GRCm39)	N87I	probably benign	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,924,718 (GRCm39)	V1749A	probably benign	Het
Or52e5	A	G	7: 104,719,255 (GRCm39)	I194V	probably damaging	Het
Pcdhgb4	A	T	18: 37,854,855 (GRCm39)	N417Y	probably damaging	Het
Pclo	G	T	5: 14,565,283 (GRCm39)	L16F	unknown	Het
Pik3c2g	T	A	6: 139,700,497 (GRCm39)	N262K		Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf41	C	T	10: 128,271,279 (GRCm39)	A63V	probably benign	Het
Sirt1	C	T	10: 63,172,795 (GRCm39)	A163T	probably damaging	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Skor2	A	G	18: 76,948,483 (GRCm39)	E735G	probably damaging	Het
Slc26a8	TCTCTGGCTCTGGCTCTGGCTCTGGCTC	TCTCTGGCTCTGGCTCTGGCTC	17: 28,857,315 (GRCm39)		probably benign	Het
Smco2	T	TTCG	6: 146,754,161 (GRCm39)		probably benign	Het
Strada	A	G	11: 106,061,846 (GRCm39)	I172T	probably damaging	Het
Syne1	T	C	10: 5,252,248 (GRCm39)	I2469V	probably benign	Het
Tcof1	C	CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA	18: 60,966,656 (GRCm39)		probably benign	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Ttll7	T	A	3: 146,685,413 (GRCm39)	F882L	probably benign	Het
Usp2	TGTGACCTGTTCTTCACTTAC	TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC	9: 44,000,406 (GRCm39)		probably benign	Het
Utp18	A	G	11: 93,776,287 (GRCm39)	L66P	probably damaging	Het
Wnt7a	C	T	6: 91,371,405 (GRCm39)	E186K	possibly damaging	Het
Zfp384	AGGCCCAGGCCC	AGGCCCAGGCCCCGGCCCAGGCCC	6: 125,013,444 (GRCm39)		probably benign	Het
Zgrf1	A	G	3: 127,356,882 (GRCm39)	I703V	probably benign	Het
Zpld2	T	C	4: 133,920,338 (GRCm39)	H609R	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
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

Predicted Primers

PCR Primer
(F):5'- GCTTCGCAAAGAAAAGGATTTG -3'
(R):5'- TTCCGGGGCAAGACCTATTG -3'

Sequencing Primer
(F):5'- TGCTCCTGTTAAAGCAGAGAAG -3'
(R):5'- TATTGTCCGGCCCGATGAC -3'

Posted On

2019-12-04