Mutagenetix > Incidental Mutation

Incidental Mutation 'R7101:Six5'

550818

Institutional Source

Beutler Lab

Gene Symbol

Six5

Ensembl Gene

ENSMUSG00000040841

Gene Name

sine oculis-related homeobox 5

Synonyms

Dmahp, TrexBF, MDMAHP

MMRRC Submission

045193-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R7101 (G1)

Quality Score

223.009

Status

Not validated

Chromosome

Chromosomal Location

18828519-18832474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18828784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 75 (T75A)

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 benign
Transcript: ENSMUST00000049454
AA Change: T75A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841
AA Change: T75A

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,438 (GRCm39)	D568G	probably benign	Het
Angpt1	T	C	15: 42,386,965 (GRCm39)	I130V	probably benign	Het
Ankrd11	G	T	8: 123,622,194 (GRCm39)	Q553K	probably benign	Het
Ankrd42	A	T	7: 92,280,752 (GRCm39)	H59Q	possibly damaging	Het
Ankrd52	C	T	10: 128,218,249 (GRCm39)	R318C	probably damaging	Het
Arrdc5	G	A	17: 56,601,522 (GRCm39)	T201M	probably damaging	Het
Atxn1l	A	G	8: 110,459,132 (GRCm39)	S377P	probably benign	Het
Baz2a	T	C	10: 127,957,056 (GRCm39)	F936S	possibly damaging	Het
Bicc1	T	C	10: 70,766,483 (GRCm39)	D913G	probably damaging	Het
Blnk	T	A	19: 40,961,082 (GRCm39)	M21L	probably benign	Het
Cabin1	T	C	10: 75,587,401 (GRCm39)	H132R	probably benign	Het
Ccdc154	A	G	17: 25,382,442 (GRCm39)	H88R	probably benign	Het
Cfap20dc	G	T	14: 8,511,171 (GRCm38)	S414R	possibly damaging	Het
Clic5	G	T	17: 44,586,179 (GRCm39)	A223S	probably benign	Het
Col28a1	T	A	6: 8,014,795 (GRCm39)	Y870F	possibly damaging	Het
Dhx37	G	A	5: 125,502,006 (GRCm39)	Q497*	probably null	Het
Dnah11	T	C	12: 118,031,880 (GRCm39)	T1763A	probably benign	Het
Dnajc13	T	C	9: 104,042,221 (GRCm39)	R2005G	possibly damaging	Het
Dop1a	G	A	9: 86,389,722 (GRCm39)	G541S	probably benign	Het
Drosha	C	T	15: 12,865,153 (GRCm39)	T627M	probably damaging	Het
Ephb3	C	T	16: 21,037,268 (GRCm39)	H455Y	possibly damaging	Het
Eri1	A	C	8: 35,949,777 (GRCm39)	C127G	probably damaging	Het
Faf1	A	T	4: 109,783,153 (GRCm39)	E548D	probably benign	Het
Gm3285	C	A	10: 77,698,194 (GRCm39)	C114*	probably null	Het
Gm9736	C	T	10: 77,587,167 (GRCm39)	V8I	unknown	Het
Gnptab	A	T	10: 88,276,174 (GRCm39)	M1154L	probably benign	Het
Grin1	G	A	2: 25,186,647 (GRCm39)	T770M	probably damaging	Het
Haus1	A	G	18: 77,854,570 (GRCm39)	S67P	possibly damaging	Het
Homer1	C	A	13: 93,492,562 (GRCm39)	Q184K	probably benign	Het
Hook2	A	G	8: 85,723,680 (GRCm39)	T401A	probably benign	Het
Il6st	G	A	13: 112,631,907 (GRCm39)		probably null	Het
Kcnh8	A	T	17: 53,212,038 (GRCm39)	D612V	probably damaging	Het
Ltbr	C	G	6: 125,289,763 (GRCm39)	E144Q	probably benign	Het
Mcf2l	G	T	8: 13,063,579 (GRCm39)	R961L	possibly damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo1b	G	T	1: 51,797,160 (GRCm39)	Q961K	probably benign	Het
Myo1h	C	A	5: 114,480,258 (GRCm39)	T531N		Het
Ngly1	G	A	14: 16,283,445 (GRCm38)	R408Q	probably damaging	Het
Nup133	T	C	8: 124,632,966 (GRCm39)	E1055G	possibly damaging	Het
Nutm2	A	G	13: 50,626,934 (GRCm39)	K363R	probably benign	Het
Obox8	A	T	7: 14,066,752 (GRCm39)	Y97*	probably null	Het
Odc1	A	G	12: 17,597,319 (GRCm39)	D7G	probably benign	Het
Ogfod2	C	T	5: 124,252,558 (GRCm39)	T182I	unknown	Het
Or2t49	A	G	11: 58,393,379 (GRCm39)	M7T	probably benign	Het
Or4c111	A	T	2: 88,844,324 (GRCm39)	V28E	possibly damaging	Het
Or8b12b	T	C	9: 37,684,287 (GRCm39)	S111P	probably damaging	Het
Or8b46	G	A	9: 38,450,966 (GRCm39)	M258I	probably benign	Het
Parp4	A	G	14: 56,827,430 (GRCm39)	D188G	probably benign	Het
Phactr2	T	C	10: 13,122,922 (GRCm39)	E400G	probably benign	Het
Phlpp1	G	A	1: 106,100,397 (GRCm39)	V222M	possibly damaging	Het
Ppp1r16b	T	C	2: 158,603,683 (GRCm39)	V536A	probably damaging	Het
Prex2	T	C	1: 11,223,833 (GRCm39)	V719A	possibly damaging	Het
Prpf8	C	T	11: 75,381,226 (GRCm39)	A242V	possibly damaging	Het
Prr14l	A	G	5: 32,986,771 (GRCm39)	L908P	probably damaging	Het
Prrc2b	A	G	2: 32,117,005 (GRCm39)	N2146D	possibly damaging	Het
Rtkn	T	C	6: 83,126,993 (GRCm39)	V333A	possibly damaging	Het
Samd8	T	C	14: 21,825,442 (GRCm39)	Y196H	probably benign	Het
Slc35a4	T	A	18: 36,814,591 (GRCm39)	L42H	probably damaging	Het
Svs3a	A	T	2: 164,131,933 (GRCm39)	D168V	probably damaging	Het
Themis	T	A	10: 28,637,422 (GRCm39)	Y175*	probably null	Het
Tspan33	G	T	6: 29,716,783 (GRCm39)	R180L	probably benign	Het
Ttc28	C	T	5: 111,232,958 (GRCm39)	S145F	probably damaging	Het
Txn2	G	A	15: 77,810,878 (GRCm39)	T102I	unknown	Het
Usp34	T	A	11: 23,376,183 (GRCm39)	V1908E		Het
Vmn2r101	A	G	17: 19,809,350 (GRCm39)	I160V	probably null	Het
Vmn2r104	A	T	17: 20,250,358 (GRCm39)	C638S	possibly damaging	Het
Wdfy4	C	T	14: 32,682,777 (GRCm39)	R3136Q		Het
Zan	C	A	5: 137,396,552 (GRCm39)	A4335S	unknown	Het
Zfp180	G	T	7: 23,803,958 (GRCm39)	V126F	probably benign	Het
Zfp429	T	A	13: 67,538,931 (GRCm39)	D171V	possibly damaging	Het
Zfp638	T	C	6: 83,931,708 (GRCm39)	I798T	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
R6736:Six5	UTSW	7	18,828,916 (GRCm39)	missense	possibly damaging	0.83
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'- TTTCCAAAGTTGCCAAACATGG -3'
(R):5'- TAGAGCTCGGCGTATTCACC -3'

Sequencing Primer
(F):5'- CCAAACATGGCTACCTCGC -3'
(R):5'- TATTCACCCCGCTGGAAGG -3'

Posted On

2019-05-15