Mutagenetix > Incidental Mutation

Incidental Mutation 'R5834:Six2'

449510

Institutional Source

Beutler Lab

Gene Symbol

Six2

Ensembl Gene

ENSMUSG00000024134

Gene Name

sine oculis-related homeobox 2

Synonyms

MMRRC Submission

044055-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5834 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

85991705-85995702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85995092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 97 (K97E)

Ref Sequence

ENSEMBL: ENSMUSP00000125871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024947] [ENSMUST00000163568]

AlphaFold

Q62232

Predicted Effect

probably damaging
Transcript: ENSMUST00000024947
AA Change: K97E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024947
Gene: ENSMUSG00000024134
AA Change: K97E

Domain	Start	End	E-Value	Type
HOX	125	186	8.72e-18	SMART
low complexity region	228	269	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163568
AA Change: K97E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125871
Gene: ENSMUSG00000024134
AA Change: K97E

Domain	Start	End	E-Value	Type
Pfam:SIX1_SD	9	119	1.5e-52	PFAM
HOX	125	186	8.72e-18	SMART
low complexity region	228	269	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die shortly after birth and exhibit abnormal kidney development. Abnormalities include small kidney, lack of ureteric bud branches throughout the kidney, increased apoptosis and premature and arrested nephron development. [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
Abca13	T	C	11: 9,227,974 (GRCm39)		probably null	Het
Adamts20	A	C	15: 94,251,465 (GRCm39)	S441A	probably damaging	Het
Aen	T	A	7: 78,557,049 (GRCm39)	M299K	probably damaging	Het
Akap3	T	C	6: 126,842,796 (GRCm39)	S472P	probably benign	Het
Ank3	T	G	10: 69,658,087 (GRCm39)	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,622,955 (GRCm39)	D324G	probably benign	Het
Aste1	A	T	9: 105,280,614 (GRCm39)	R448S	probably benign	Het
Atp10a	T	A	7: 58,308,366 (GRCm39)	L55Q	probably benign	Het
C1qtnf9	G	A	14: 61,016,899 (GRCm39)	G143D	probably damaging	Het
Camsap2	A	G	1: 136,208,126 (GRCm39)	V1122A	probably benign	Het
Cbl	T	C	9: 44,145,076 (GRCm39)	H37R	probably damaging	Het
Cfap61	A	C	2: 145,971,069 (GRCm39)	D893A	probably benign	Het
Chd2	T	A	7: 73,128,463 (GRCm39)	I841F	probably damaging	Het
Chd9	A	G	8: 91,723,792 (GRCm39)	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,896,391 (GRCm39)	Y1028H	probably benign	Het
Crybg2	A	G	4: 133,801,434 (GRCm39)	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,030,511 (GRCm39)	I448V	probably benign	Het
Cyth1	T	A	11: 118,083,289 (GRCm39)		probably null	Het
Dcaf13	C	T	15: 39,007,037 (GRCm39)	R324*	probably null	Het
Dhx37	C	A	5: 125,502,794 (GRCm39)	R42L	probably damaging	Het
Dock1	T	A	7: 134,365,662 (GRCm39)	V450E	probably damaging	Het
Ednrb	A	G	14: 104,058,313 (GRCm39)	L330P	probably damaging	Het
Eml4	T	A	17: 83,785,170 (GRCm39)	H778Q	probably damaging	Het
Evx1	T	A	6: 52,292,975 (GRCm39)	I227N	probably damaging	Het
G3bp1	T	A	11: 55,388,766 (GRCm39)	V326E	probably benign	Het
Gata2	T	C	6: 88,177,729 (GRCm39)	V253A	probably benign	Het
Gbp2	A	G	3: 142,339,138 (GRCm39)	N397D	probably damaging	Het
Gm14401	C	A	2: 176,778,696 (GRCm39)	H261N	probably benign	Het
Hacd4	A	T	4: 88,316,389 (GRCm39)	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,760,255 (GRCm39)	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ift27	A	T	15: 78,049,443 (GRCm39)	C86S	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Irs3	T	A	5: 137,642,821 (GRCm39)	S206C	probably damaging	Het
Lefty2	C	T	1: 180,720,716 (GRCm39)		probably benign	Het
Mark3	A	G	12: 111,590,921 (GRCm39)	I162V	probably damaging	Het
Matcap1	G	A	8: 106,008,755 (GRCm39)	Q421*	probably null	Het
Mefv	A	C	16: 3,533,910 (GRCm39)	D120E	probably damaging	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mre11a	A	G	9: 14,710,953 (GRCm39)	I45V	probably benign	Het
Mtor	A	G	4: 148,620,993 (GRCm39)	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,460,144 (GRCm39)	M393R	probably benign	Het
Nod2	T	C	8: 89,391,267 (GRCm39)	S510P	possibly damaging	Het
Nos2	C	T	11: 78,819,405 (GRCm39)	T39I	probably benign	Het
Or2h1b	A	T	17: 37,462,690 (GRCm39)	Y58N	probably damaging	Het
Or5p54	T	A	7: 107,554,113 (GRCm39)	H88Q	probably benign	Het
Pcdh7	A	G	5: 57,878,970 (GRCm39)	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,145,676 (GRCm39)	V589A	probably damaging	Het
Plaa	A	C	4: 94,471,706 (GRCm39)	V10G	probably damaging	Het
Pprc1	T	A	19: 46,053,659 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,402,189 (GRCm39)	Y994C	probably damaging	Het
Ripply2	T	A	9: 86,897,943 (GRCm39)	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,395,839 (GRCm39)	D1227G	probably damaging	Het
Scoc	C	T	8: 84,164,260 (GRCm39)	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,745,099 (GRCm39)	I732N	probably damaging	Het
Slit2	A	C	5: 48,416,989 (GRCm39)	N1014H	probably damaging	Het
Smc1b	A	C	15: 84,973,866 (GRCm39)	L930R	probably damaging	Het
Spag16	T	A	1: 69,962,873 (GRCm39)	M340K	probably benign	Het
Spata31	C	T	13: 65,070,480 (GRCm39)	S876L	probably benign	Het
Spen	A	G	4: 141,199,154 (GRCm39)	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,012,363 (GRCm39)		probably null	Het
Stk3	G	A	15: 34,959,164 (GRCm39)	T336I	probably damaging	Het
Tas2r118	T	A	6: 23,969,876 (GRCm39)	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,454,169 (GRCm39)	M212T	probably damaging	Het
Trpc7	A	G	13: 56,923,971 (GRCm39)	L738P	probably damaging	Het
Ttll8	A	G	15: 88,801,449 (GRCm39)	V413A	possibly damaging	Het
Usb1	G	A	8: 96,060,161 (GRCm39)		probably benign	Het
Vmn1r238	T	C	18: 3,123,168 (GRCm39)	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,529,599 (GRCm39)	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 41,765,932 (GRCm39)	P13H	probably benign	Het
Wdr26	A	G	1: 181,030,712 (GRCm39)	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,310,787 (GRCm39)	Q636*	probably null	Het
Zfyve26	A	G	12: 79,313,311 (GRCm39)	Y25H	probably benign	Het

Other mutations in Six2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Six2	APN	17	85,995,319 (GRCm39)	missense	probably damaging	1.00
IGL02452:Six2	APN	17	85,992,806 (GRCm39)	missense	possibly damaging	0.91
IGL02468:Six2	APN	17	85,992,931 (GRCm39)	missense	possibly damaging	0.80
PIT4449001:Six2	UTSW	17	85,992,906 (GRCm39)	missense	probably benign	0.00
PIT4812001:Six2	UTSW	17	85,992,729 (GRCm39)	missense	possibly damaging	0.92
R2073:Six2	UTSW	17	85,994,933 (GRCm39)	missense	probably damaging	1.00
R2075:Six2	UTSW	17	85,994,933 (GRCm39)	missense	probably damaging	1.00
R2915:Six2	UTSW	17	85,992,616 (GRCm39)	missense	probably damaging	1.00
R3830:Six2	UTSW	17	85,992,615 (GRCm39)	missense	probably damaging	1.00
R7555:Six2	UTSW	17	85,995,135 (GRCm39)	missense	probably damaging	1.00
R7723:Six2	UTSW	17	85,995,103 (GRCm39)	missense	probably benign	0.06
R8011:Six2	UTSW	17	85,995,100 (GRCm39)	missense	probably damaging	1.00
R9150:Six2	UTSW	17	85,992,763 (GRCm39)	missense	probably benign
R9328:Six2	UTSW	17	85,995,196 (GRCm39)	missense	possibly damaging	0.66
R9700:Six2	UTSW	17	85,994,867 (GRCm39)	missense	probably damaging	1.00
Z1176:Six2	UTSW	17	85,992,884 (GRCm39)	missense	probably benign	0.26
Z1177:Six2	UTSW	17	85,995,053 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCAGTTGCTGACTTGCGTG -3'
(R):5'- GGATCGTTGTGACTCAGGAG -3'

Sequencing Primer
(F):5'- AGCTCGCGCTTCTCTCGTG -3'
(R):5'- CTTCACGCAGGAGCAAGTG -3'

Posted On

2016-12-20