Mutagenetix > Incidental Mutation

Incidental Mutation 'R0410:Six5'

36583

Institutional Source

Beutler Lab

Gene Symbol

Six5

Ensembl Gene

ENSMUSG00000040841

Gene Name

sine oculis-related homeobox 5

Synonyms

Dmahp, TrexBF, MDMAHP

MMRRC Submission

038612-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R0410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18828519-18832474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18830381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 336 (V336D)

Ref Sequence

ENSEMBL: ENSMUSP00000045973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032568] [ENSMUST00000049454] [ENSMUST00000108473] [ENSMUST00000108474] [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 damaging
Transcript: ENSMUST00000049454
AA Change: V336D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841
AA Change: V336D

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

noncoding transcript
Transcript: ENSMUST00000128422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142725

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

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,268 (GRCm39)	D170G	probably benign	Het
Actrt3	C	T	3: 30,652,273 (GRCm39)	G274S	probably benign	Het
Adamts18	G	T	8: 114,440,990 (GRCm39)	C889*	probably null	Het
Alkbh6	C	T	7: 30,012,031 (GRCm39)	P104S	probably damaging	Het
Alms1	A	T	6: 85,564,785 (GRCm39)	E53V	unknown	Het
Ap3s1	T	C	18: 46,912,279 (GRCm39)	C100R	probably benign	Het
Apbb2	G	T	5: 66,609,149 (GRCm39)	A166E	possibly damaging	Het
Asph	A	G	4: 9,595,415 (GRCm39)	V174A	probably damaging	Het
Cacna2d2	T	C	9: 107,401,819 (GRCm39)	L758P	probably damaging	Het
Cacng5	A	G	11: 107,768,195 (GRCm39)	S271P	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Chn1	A	T	2: 73,462,094 (GRCm39)	C236*	probably null	Het
Coro1b	T	C	19: 4,199,362 (GRCm39)	V7A	probably damaging	Het
Dhx16	A	G	17: 36,201,859 (GRCm39)	Y962C	probably damaging	Het
Dixdc1	T	C	9: 50,596,153 (GRCm39)	D152G	probably damaging	Het
Dmrt1	T	C	19: 25,483,467 (GRCm39)	S84P	probably damaging	Het
Dnah10	A	G	5: 124,832,799 (GRCm39)	D844G	probably benign	Het
Edn3	C	T	2: 174,603,482 (GRCm39)	P77S	possibly damaging	Het
Efcab7	T	C	4: 99,735,487 (GRCm39)		probably null	Het
Fam83g	A	G	11: 61,594,218 (GRCm39)	D584G	probably damaging	Het
Fbxo7	T	A	10: 85,865,102 (GRCm39)		probably null	Het
Ffar1	T	C	7: 30,560,055 (GRCm39)	T281A	probably benign	Het
Fntb	T	C	12: 76,934,826 (GRCm39)	V201A	probably benign	Het
Gart	C	A	16: 91,438,215 (GRCm39)	A101S	probably damaging	Het
Gbp9	T	C	5: 105,232,939 (GRCm39)	T238A	probably benign	Het
Hectd4	T	C	5: 121,424,329 (GRCm39)	L663S	possibly damaging	Het
Helz2	A	T	2: 180,872,386 (GRCm39)	V2512E	probably damaging	Het
Hip1	A	C	5: 135,487,009 (GRCm39)	L66R	probably damaging	Het
Iigp1	T	A	18: 60,523,375 (GRCm39)	D164E	probably benign	Het
Kcnip3	A	G	2: 127,301,986 (GRCm39)	S193P	probably damaging	Het
Klra9	T	A	6: 130,165,707 (GRCm39)	T103S	probably benign	Het
Meis2	T	C	2: 115,694,709 (GRCm39)	*471W	probably null	Het
Minar1	T	G	9: 89,484,256 (GRCm39)	E380D	probably damaging	Het
Mrpl21	T	C	19: 3,334,792 (GRCm39)	S45P	possibly damaging	Het
Mterf1b	A	G	5: 4,246,488 (GRCm39)	E43G	probably benign	Het
Mycbp2	G	T	14: 103,372,569 (GRCm39)	S4092R	probably damaging	Het
Nfatc3	A	T	8: 106,822,828 (GRCm39)	N538I	probably damaging	Het
Nphp4	T	C	4: 152,641,503 (GRCm39)	C1095R	probably benign	Het
Npm2	T	A	14: 70,889,993 (GRCm39)	T13S	probably benign	Het
Or1m1	C	A	9: 18,666,137 (GRCm39)	V265F	probably damaging	Het
Or7e176	T	A	9: 20,171,797 (GRCm39)	F220L	probably benign	Het
Plcg2	A	T	8: 118,342,112 (GRCm39)	I1158F	probably damaging	Het
Popdc3	T	C	10: 45,193,829 (GRCm39)	V210A	possibly damaging	Het
Postn	T	C	3: 54,292,698 (GRCm39)	L755S	possibly damaging	Het
Prdx6b	T	C	2: 80,123,373 (GRCm39)	F61L	probably damaging	Het
Rars1	C	T	11: 35,716,847 (GRCm39)	R223H	probably damaging	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Scaf4	A	G	16: 90,057,058 (GRCm39)	Y98H	unknown	Het
Scn4a	A	G	11: 106,214,775 (GRCm39)	I1274T	probably damaging	Het
Senp2	G	T	16: 21,828,444 (GRCm39)	R18L	probably damaging	Het
Slc31a2	G	A	4: 62,210,890 (GRCm39)	E8K	probably benign	Het
Slc4a7	A	T	14: 14,738,299 (GRCm38)	T184S	probably damaging	Het
Slco2a1	T	A	9: 102,950,513 (GRCm39)		probably null	Het
Smr3a	T	G	5: 88,156,070 (GRCm39)		probably benign	Het
Sqor	T	C	2: 122,629,442 (GRCm39)	V100A	probably benign	Het
Srarp	T	C	4: 141,160,459 (GRCm39)	N125D	possibly damaging	Het
Stam	T	C	2: 14,143,802 (GRCm39)	V364A	probably benign	Het
Tgm5	T	C	2: 120,908,039 (GRCm39)	I46V	possibly damaging	Het
Tie1	A	T	4: 118,337,766 (GRCm39)	V443E	probably damaging	Het
Tipin	T	C	9: 64,195,397 (GRCm39)	M1T	probably null	Het
Tnc	T	C	4: 63,925,931 (GRCm39)	T950A	probably benign	Het
Tns3	T	C	11: 8,385,852 (GRCm39)	D1382G	probably benign	Het
Tor1aip1	A	G	1: 155,911,686 (GRCm39)	V99A	possibly damaging	Het
Trim16	C	T	11: 62,711,297 (GRCm39)		probably benign	Het
Ttn	G	T	2: 76,618,701 (GRCm39)	N14448K	possibly damaging	Het
Ttn	C	T	2: 76,717,204 (GRCm39)		probably benign	Het
Tut4	A	G	4: 108,343,752 (GRCm39)	R255G	probably benign	Het
Vmn1r23	A	G	6: 57,903,175 (GRCm39)	I201T	probably benign	Het
Vmn2r13	T	A	5: 109,321,679 (GRCm39)	K339N	probably benign	Het
Yap1	A	G	9: 8,001,468 (GRCm39)	Y173H	probably damaging	Het

Other mutations in Six5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Six5	APN	7	18,831,603 (GRCm39)	missense	probably damaging	1.00
IGL01543:Six5	APN	7	18,830,272 (GRCm39)	missense	possibly damaging	0.46
IGL02643:Six5	APN	7	18,831,455 (GRCm39)	missense	probably benign	0.14
IGL03137:Six5	APN	7	18,831,072 (GRCm39)	unclassified	probably benign
R0243:Six5	UTSW	7	18,830,947 (GRCm39)	splice site	probably null
R1942:Six5	UTSW	7	18,830,858 (GRCm39)	missense	possibly damaging	0.68
R2055:Six5	UTSW	7	18,829,154 (GRCm39)	missense	possibly damaging	0.78
R3726:Six5	UTSW	7	18,830,855 (GRCm39)	missense	possibly damaging	0.86
R4801:Six5	UTSW	7	18,830,894 (GRCm39)	missense	probably benign	0.19
R4802:Six5	UTSW	7	18,830,894 (GRCm39)	missense	probably benign	0.19
R4898:Six5	UTSW	7	18,829,096 (GRCm39)	missense	probably damaging	1.00
R6150:Six5	UTSW	7	18,831,446 (GRCm39)	missense	probably benign	0.34
R6432:Six5	UTSW	7	18,830,696 (GRCm39)	missense	probably damaging	1.00
R6667:Six5	UTSW	7	18,830,494 (GRCm39)	missense	probably benign	0.00
R6736:Six5	UTSW	7	18,828,916 (GRCm39)	missense	possibly damaging	0.83
R7101:Six5	UTSW	7	18,828,784 (GRCm39)	missense	probably benign	0.01
R7253:Six5	UTSW	7	18,828,901 (GRCm39)	missense	probably damaging	1.00
R7402:Six5	UTSW	7	18,828,968 (GRCm39)	missense	probably damaging	1.00
R7719:Six5	UTSW	7	18,830,803 (GRCm39)	missense	probably damaging	0.99
R8089:Six5	UTSW	7	18,828,797 (GRCm39)	missense	probably damaging	1.00
R8748:Six5	UTSW	7	18,829,049 (GRCm39)	missense	probably benign	0.00
R9182:Six5	UTSW	7	18,830,932 (GRCm39)	missense	probably benign
R9283:Six5	UTSW	7	18,829,148 (GRCm39)	missense	probably damaging	1.00
RF007:Six5	UTSW	7	18,828,862 (GRCm39)	missense	probably benign	0.00
RF030:Six5	UTSW	7	18,828,725 (GRCm39)	unclassified	probably benign
RF037:Six5	UTSW	7	18,828,725 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTAAAAGCTGCTGCCTCACTCC -3'
(R):5'- AGACTGAGCCTCATCCAGTCGAAC -3'

Sequencing Primer
(F):5'- GGCGACTGGAAAACTTTCCTC -3'
(R):5'- AGTCGAACCTCTCCTGTCTGAG -3'

Posted On

2013-05-09