Mutagenetix > Incidental Mutation

Incidental Mutation 'R6736:Six5'

528414

Institutional Source

Beutler Lab

Gene Symbol

Six5

Ensembl Gene

ENSMUSG00000040841

Gene Name

sine oculis-related homeobox 5

Synonyms

Dmahp, TrexBF, MDMAHP

MMRRC Submission

044854-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.779) question?

Stock #

R6736 (G1)

Quality Score

156.008

Status

Not validated

Chromosome

Chromosomal Location

18828519-18832474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18828916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 119 (V119M)

Ref Sequence

ENSEMBL: ENSMUSP00000045973 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000049454
AA Change: V119M

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841
AA Change: V119M

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: ENSMUST00000140742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137219

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

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: ENSMUST00000135839

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,211,100 (GRCm39)	I83T	probably benign	Het
Aadacl4	T	G	4: 144,349,909 (GRCm39)	S389A	possibly damaging	Het
Abca13	A	T	11: 9,415,058 (GRCm39)	S4042C	probably damaging	Het
Acaca	G	A	11: 84,129,664 (GRCm39)	V340I	probably benign	Het
Acox3	T	A	5: 35,746,198 (GRCm39)		probably null	Het
Acsl6	A	C	11: 54,215,992 (GRCm39)	E124A	probably damaging	Het
Adamtsl1	T	A	4: 86,260,484 (GRCm39)	H898Q	probably damaging	Het
Agl	A	G	3: 116,575,329 (GRCm39)	S603P	probably damaging	Het
Apobec1	A	T	6: 122,558,634 (GRCm39)	M31K	probably null	Het
Astn1	T	C	1: 158,338,718 (GRCm39)		probably null	Het
Atp8a1	G	T	5: 67,824,960 (GRCm39)	D790E	probably damaging	Het
Bahd1	T	G	2: 118,746,456 (GRCm39)	M25R	possibly damaging	Het
BC034090	A	T	1: 155,117,676 (GRCm39)	N147K	possibly damaging	Het
Bfsp2	G	T	9: 103,357,403 (GRCm39)	A8E	possibly damaging	Het
Brwd1	A	T	16: 95,869,772 (GRCm39)	I85N	probably damaging	Het
Catspere2	T	A	1: 177,845,278 (GRCm39)	Y99*	probably null	Het
Ccdc24	T	A	4: 117,727,732 (GRCm39)	N145I	possibly damaging	Het
Cdhr5	G	T	7: 140,852,444 (GRCm39)	Q141K	probably damaging	Het
Cfap46	A	G	7: 139,199,887 (GRCm39)	V1998A	possibly damaging	Het
Csmd1	T	A	8: 16,052,626 (GRCm39)	Y2166F	probably damaging	Het
Cul4a	T	G	8: 13,186,219 (GRCm39)	S474A	probably benign	Het
Cutal	A	G	2: 34,778,149 (GRCm39)	T112A	probably benign	Het
Dcaf6	A	C	1: 165,227,354 (GRCm39)	S258A	possibly damaging	Het
Dek	C	T	13: 47,252,866 (GRCm39)	V180M	probably damaging	Het
Dspp	C	A	5: 104,326,041 (GRCm39)	D801E	unknown	Het
Egflam	T	C	15: 7,249,206 (GRCm39)	T871A	probably damaging	Het
Erbin	A	T	13: 103,971,274 (GRCm39)	S781T	possibly damaging	Het
Erich6	A	T	3: 58,532,475 (GRCm39)	H377Q	probably damaging	Het
Exo5	C	A	4: 120,778,953 (GRCm39)	G304V	probably damaging	Het
Eya2	C	A	2: 165,557,957 (GRCm39)	S184R	possibly damaging	Het
Fhod1	G	A	8: 106,064,522 (GRCm39)		probably benign	Het
G6pc3	A	G	11: 102,084,496 (GRCm39)	Y302C	possibly damaging	Het
Gart	T	C	16: 91,432,995 (GRCm39)	D318G	probably benign	Het
Gm10300	T	C	4: 131,802,246 (GRCm39)		probably benign	Het
Gm11937	A	G	11: 99,500,900 (GRCm39)	V39A	probably damaging	Het
Gnas	T	C	2: 174,176,044 (GRCm39)	M60T	probably damaging	Het
Grk5	G	T	19: 60,879,064 (GRCm39)	R16L	probably damaging	Het
Hcn3	A	G	3: 89,059,981 (GRCm39)	L221P	probably damaging	Het
Hddc3	G	A	7: 79,992,944 (GRCm39)	R20Q	possibly damaging	Het
Hectd4	T	C	5: 121,415,788 (GRCm39)	Y530H	possibly damaging	Het
Igf2bp1	A	T	11: 95,863,948 (GRCm39)	H247Q	probably benign	Het
Igkv4-70	T	A	6: 69,244,912 (GRCm39)	D103V	probably damaging	Het
Itpr2	T	A	6: 146,226,668 (GRCm39)	M1359L	probably damaging	Het
Kalrn	A	G	16: 34,038,293 (GRCm39)	L1013S	probably damaging	Het
Kctd21	C	T	7: 96,997,291 (GRCm39)	R255W	probably damaging	Het
Krt18	T	A	15: 101,939,204 (GRCm39)	Y263N	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Larp1	G	A	11: 57,933,473 (GRCm39)		probably null	Het
Lmnb1	A	G	18: 56,861,541 (GRCm39)	N144S	probably damaging	Het
Lrp2	T	A	2: 69,278,555 (GRCm39)	T3933S	probably benign	Het
Lrrc34	T	C	3: 30,679,008 (GRCm39)	N363S	probably benign	Het
Lrriq1	T	C	10: 103,017,750 (GRCm39)		probably null	Het
Mafa	C	A	15: 75,619,629 (GRCm39)	G48V	unknown	Het
Mboat4	T	C	8: 34,591,675 (GRCm39)	S371P	possibly damaging	Het
Mei4	A	T	9: 81,907,677 (GRCm39)	M237L	probably benign	Het
Mfsd2a	T	C	4: 122,845,054 (GRCm39)	D219G	probably benign	Het
Msl2	A	G	9: 100,978,201 (GRCm39)	N192D	probably damaging	Het
Mycbp2	C	A	14: 103,429,003 (GRCm39)	R2358M	probably null	Het
Myh10	A	G	11: 68,636,165 (GRCm39)	T185A	probably damaging	Het
Nipsnap2	T	C	5: 129,822,352 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,350,298 (GRCm39)	T2281A	probably benign	Het
Odad2	C	A	18: 7,223,586 (GRCm39)	V486F	probably damaging	Het
Or12j4	T	C	7: 140,046,800 (GRCm39)	S229P	probably damaging	Het
Or12j4	G	T	7: 140,046,834 (GRCm39)	C240F	probably damaging	Het
Or1e1c	G	T	11: 73,266,402 (GRCm39)	V276F	probably benign	Het
Or4q3	A	T	14: 50,582,905 (GRCm39)	N300K	probably damaging	Het
Or5an10	G	A	19: 12,275,936 (GRCm39)	Q187*	probably null	Het
Or5d20-ps1	C	A	2: 87,931,947 (GRCm39)	C128F	probably benign	Het
Or8c17	T	A	9: 38,179,866 (GRCm39)	I19N	probably damaging	Het
Or8g30	A	G	9: 39,230,089 (GRCm39)	S274P	probably damaging	Het
Oxct1	T	A	15: 4,121,899 (GRCm39)	S283T	probably benign	Het
Pcnx2	G	T	8: 126,479,056 (GRCm39)		probably null	Het
Piwil4	A	G	9: 14,627,119 (GRCm39)	F424L	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Psmc2	T	A	5: 22,005,574 (GRCm39)	D218E	probably damaging	Het
Ptpn7	C	T	1: 135,066,974 (GRCm39)	P277L	probably benign	Het
Rgs12	A	G	5: 35,180,436 (GRCm39)	K27E	probably damaging	Het
Rp1l1	G	T	14: 64,267,173 (GRCm39)	A920S	possibly damaging	Het
Rsbn1l	A	T	5: 21,113,222 (GRCm39)	H433Q	probably benign	Het
Safb	C	A	17: 56,913,023 (GRCm39)	P913Q	possibly damaging	Het
Sema7a	G	A	9: 57,867,854 (GRCm39)	V477M	probably damaging	Het
Serpina16	T	A	12: 103,635,191 (GRCm39)	T408S	possibly damaging	Het
Slc6a16	C	T	7: 44,908,452 (GRCm39)	P11S	possibly damaging	Het
Smg1	A	G	7: 117,756,389 (GRCm39)		probably benign	Het
Sntg1	T	A	1: 8,515,274 (GRCm39)	I420F	probably benign	Het
Sptb	T	C	12: 76,659,954 (GRCm39)	D982G	possibly damaging	Het
Stag3	T	A	5: 138,299,761 (GRCm39)	F891I	probably damaging	Het
Sugp1	A	G	8: 70,511,953 (GRCm39)	E183G	probably benign	Het
Taf1d	T	C	9: 15,219,119 (GRCm39)		probably null	Het
Tapbp	T	C	17: 34,138,931 (GRCm39)	S33P	possibly damaging	Het
Ubap2	CT	CTTGCCCCGGT	4: 41,227,224 (GRCm39)		probably benign	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Ubash3a	A	G	17: 31,450,389 (GRCm39)	T355A	probably benign	Het
Usp16	T	G	16: 87,267,285 (GRCm39)	V225G	probably damaging	Het
Utrn	A	G	10: 12,497,047 (GRCm39)	V2454A	probably benign	Het
Vmn1r191	G	T	13: 22,363,720 (GRCm39)	F11L	probably benign	Het
Vmn2r117	A	T	17: 23,697,282 (GRCm39)	C137S	probably damaging	Het
Zfp1002	T	A	2: 150,097,198 (GRCm39)	Y77F	possibly damaging	Het
Zfp143	T	C	7: 109,691,021 (GRCm39)	M524T	probably damaging	Het
Zfp599	A	G	9: 22,161,140 (GRCm39)	C342R	probably damaging	Het
Zfp777	T	G	6: 48,001,790 (GRCm39)	K811Q	probably damaging	Het
Zfp870	T	A	17: 33,102,570 (GRCm39)	H254L	probably benign	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
R0410:Six5	UTSW	7	18,830,381 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCCAAAGTTGCCAAACATGG -3'
(R):5'- AGCCGGTATTTGTCCACAGC -3'

Sequencing Primer
(F):5'- GCCAGCTTCTGCAGACTCTG -3'
(R):5'- GTATTTGTCCACAGCGCCCAG -3'

Posted On

2018-07-24