Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Six5'

527019

Institutional Source

Beutler Lab

Gene Symbol

Six5

Ensembl Gene

ENSMUSG00000040841

Gene Name

sine oculis-related homeobox 5

Synonyms

Dmahp, MDMAHP, TrexBF

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19094594-19098549 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19096569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 374 (N374D)

Ref Sequence

ENSEMBL: ENSMUSP00000045973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032568] [ENSMUST00000049454] [ENSMUST00000108473] [ENSMUST00000108474] [ENSMUST00000127433] [ENSMUST00000141380] [ENSMUST00000154199]

AlphaFold

P70178

Predicted Effect

probably benign
Transcript: ENSMUST00000032568

SMART Domains

Protein: ENSMUSP00000032568
Gene: ENSMUSG00000030409

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
S_TKc	71	339	6.5e-87	SMART
S_TK_X	340	407	3.6e-11	SMART
Pfam:DMPK_coil	472	532	2.8e-25	PFAM
low complexity region	590	613	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049454
AA Change: N374D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841
AA Change: N374D

Domain	Start	End	E-Value	Type
coiled coil region	14	48	N/A	INTRINSIC
Pfam:SIX1_SD	79	189	1.4e-43	PFAM
HOX	194	256	3.11e-14	SMART
low complexity region	300	313	N/A	INTRINSIC
low complexity region	347	358	N/A	INTRINSIC
low complexity region	429	442	N/A	INTRINSIC
low complexity region	564	574	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
low complexity region	674	687	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108473

SMART Domains

Protein: ENSMUSP00000104113
Gene: ENSMUSG00000030409

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
S_TKc	71	339	1.36e-84	SMART
S_TK_X	340	407	7.5e-9	SMART
Pfam:DMPK_coil	472	532	2.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108474

SMART Domains

Protein: ENSMUSP00000104114
Gene: ENSMUSG00000030409

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
S_TKc	71	336	2.57e-76	SMART
Pfam:DMPK_coil	446	506	2.4e-28	PFAM
low complexity region	564	587	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126264

Predicted Effect

probably benign
Transcript: ENSMUST00000127433

SMART Domains

Protein: ENSMUSP00000115597
Gene: ENSMUSG00000085601

Domain	Start	End	E-Value	Type
Blast:HLH	20	57	1e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140742

Predicted Effect

probably benign
Transcript: ENSMUST00000141380

SMART Domains

Protein: ENSMUSP00000115575
Gene: ENSMUSG00000085601

Domain	Start	End	E-Value	Type
HLH	20	74	6.84e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142725

Predicted Effect

probably benign
Transcript: ENSMUST00000154199

SMART Domains

Protein: ENSMUSP00000118459
Gene: ENSMUSG00000030409

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
S_TKc	71	339	1.36e-84	SMART
S_TK_X	340	402	5.3e-9	SMART
Pfam:DMPK_coil	467	527	2.3e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148380

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygous null mutants exhibit a high incidence of progressive cataracts with background-dependent penetrance. Heterozygotes exhibit a similar phenotype, but with reduced incidence and severity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,610,642	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,315,749	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
E430018J23Rik	A	G	7: 127,393,423	M5T	probably benign	Het
Epc2	A	G	2: 49,522,669	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080	D133E	probably benign	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099		probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908	C325Y	probably damaging	Het

Other mutations in Six5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Six5	APN	7	19097678	missense	probably damaging	1.00
IGL01543:Six5	APN	7	19096347	missense	possibly damaging	0.46
IGL02643:Six5	APN	7	19097530	missense	probably benign	0.14
IGL03137:Six5	APN	7	19097147	unclassified	probably benign
R0243:Six5	UTSW	7	19097022	splice site	probably null
R0410:Six5	UTSW	7	19096456	missense	probably damaging	1.00
R1942:Six5	UTSW	7	19096933	missense	possibly damaging	0.68
R2055:Six5	UTSW	7	19095229	missense	possibly damaging	0.78
R3726:Six5	UTSW	7	19096930	missense	possibly damaging	0.86
R4801:Six5	UTSW	7	19096969	missense	probably benign	0.19
R4802:Six5	UTSW	7	19096969	missense	probably benign	0.19
R4898:Six5	UTSW	7	19095171	missense	probably damaging	1.00
R6150:Six5	UTSW	7	19097521	missense	probably benign	0.34
R6432:Six5	UTSW	7	19096771	missense	probably damaging	1.00
R6736:Six5	UTSW	7	19094991	missense	possibly damaging	0.83
R7101:Six5	UTSW	7	19094859	missense	probably benign	0.01
R7253:Six5	UTSW	7	19094976	missense	probably damaging	1.00
R7402:Six5	UTSW	7	19095043	missense	probably damaging	1.00
R7719:Six5	UTSW	7	19096878	missense	probably damaging	0.99
R8089:Six5	UTSW	7	19094872	missense	probably damaging	1.00
R8748:Six5	UTSW	7	19095124	missense	probably benign	0.00
R9182:Six5	UTSW	7	19097007	missense	probably benign
R9283:Six5	UTSW	7	19095223	missense	probably damaging	1.00
RF007:Six5	UTSW	7	19094937	missense	probably benign	0.00
RF030:Six5	UTSW	7	19094800	unclassified	probably benign
RF037:Six5	UTSW	7	19094800	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGAATGGGAGCTTCCTGG -3'
(R):5'- TTATCAGGTGCACATTGGTAGGC -3'

Sequencing Primer
(F):5'- GGAGCTTCCTGGCCGCC -3'
(R):5'- TGCCACCTTCACAGGACTG -3'

Posted On

2018-07-23