Mutagenetix > Incidental Mutation

Incidental Mutation 'R2055:Six5'

226589

Institutional Source

Beutler Lab

Gene Symbol

Six5

Ensembl Gene

ENSMUSG00000040841

Gene Name

sine oculis-related homeobox 5

Synonyms

Dmahp, TrexBF, MDMAHP

MMRRC Submission

040060-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.779) question?

Stock #

R2055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18828519-18832474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18829154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 198 (V198A)

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: V198A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841
AA Change: V198A

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: ENSMUST00000142725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143938

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

Meta Mutation Damage Score

0.1999

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,107 (GRCm39)	E185G	probably damaging	Het
3425401B19Rik	A	G	14: 32,384,508 (GRCm39)	S486P	probably benign	Het
A630023A22Rik	T	C	14: 33,774,707 (GRCm39)		probably benign	Het
Abca1	T	C	4: 53,069,881 (GRCm39)	N1271S	probably benign	Het
AI597479	C	T	1: 43,150,280 (GRCm39)	A130V	probably benign	Het
Angptl4	A	G	17: 33,999,498 (GRCm39)		probably null	Het
Arhgef25	T	A	10: 127,021,004 (GRCm39)	N294I	probably damaging	Het
Atp2b1	T	C	10: 98,850,421 (GRCm39)	V848A	probably damaging	Het
Bard1	T	C	1: 71,114,031 (GRCm39)	T317A	probably benign	Het
C1rl	T	C	6: 124,470,781 (GRCm39)	W30R	probably benign	Het
Cchcr1	A	G	17: 35,837,317 (GRCm39)	E379G	probably damaging	Het
Cfap36	G	T	11: 29,197,122 (GRCm39)	A3E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca4a	A	G	3: 144,676,489 (GRCm39)	Y64H	probably damaging	Het
Cops5	A	G	1: 10,102,562 (GRCm39)		probably null	Het
Cracr2a	G	T	6: 127,585,564 (GRCm39)	E121*	probably null	Het
Cstf1	A	G	2: 172,222,403 (GRCm39)	E387G	probably benign	Het
D630044L22Rik	A	C	17: 26,180,951 (GRCm39)	D733E	probably damaging	Het
Dlc1	A	T	8: 37,060,535 (GRCm39)	C514S	probably damaging	Het
Dmwd	G	T	7: 18,810,610 (GRCm39)	R139L	probably benign	Het
Dnah17	A	T	11: 117,958,357 (GRCm39)	S2709T	probably benign	Het
Dnmt3a	T	C	12: 3,922,859 (GRCm39)	I154T	probably benign	Het
Dpp7	T	C	2: 25,244,490 (GRCm39)	N297S	possibly damaging	Het
Ern2	A	T	7: 121,783,168 (GRCm39)	V34D	possibly damaging	Het
Erp27	A	G	6: 136,885,227 (GRCm39)		probably benign	Het
F2	T	C	2: 91,458,787 (GRCm39)	T508A	probably benign	Het
Fam181b	A	G	7: 92,729,634 (GRCm39)	T136A	probably benign	Het
Fam227b	C	A	2: 125,942,874 (GRCm39)	V308L	probably benign	Het
Fbxw20	A	T	9: 109,050,442 (GRCm39)	H394Q	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Glt8d1	T	G	14: 30,731,693 (GRCm39)	S111A	probably benign	Het
Gm11146	A	T	16: 77,391,969 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,885,416 (GRCm39)		probably benign	Het
H2-Q2	A	T	17: 35,564,247 (GRCm39)	T334S	probably benign	Het
Hcrtr1	A	G	4: 130,024,680 (GRCm39)	V402A	probably benign	Het
Hmcn2	C	A	2: 31,268,294 (GRCm39)	A1130D	probably benign	Het
Hsd17b2	T	C	8: 118,428,913 (GRCm39)	L60P	possibly damaging	Het
Htr1f	A	T	16: 64,746,398 (GRCm39)	I298N	probably damaging	Het
Ighmbp2	G	T	19: 3,315,095 (GRCm39)	A775D	probably benign	Het
Kcnn3	A	G	3: 89,428,682 (GRCm39)	T303A	probably damaging	Het
Kiz	C	A	2: 146,733,203 (GRCm39)	Q460K	probably benign	Het
Krt75	C	T	15: 101,481,196 (GRCm39)	V193I	probably benign	Het
Lsp1	G	A	7: 142,043,144 (GRCm39)		probably null	Het
Mfsd12	A	G	10: 81,196,063 (GRCm39)	H146R	probably damaging	Het
Mmp23	T	C	4: 155,736,444 (GRCm39)	K199R	possibly damaging	Het
Naip2	A	G	13: 100,315,880 (GRCm39)	V300A	probably benign	Het
Nbeal1	C	T	1: 60,350,216 (GRCm39)	L2422F	probably damaging	Het
Nbeal2	G	T	9: 110,464,375 (GRCm39)	D1094E	possibly damaging	Het
Nckap5	T	C	1: 125,954,635 (GRCm39)	E639G	probably damaging	Het
Nr4a3	A	G	4: 48,067,771 (GRCm39)	I456V	possibly damaging	Het
Or2t43	A	G	11: 58,457,673 (GRCm39)	F166S	probably damaging	Het
Parp9	G	T	16: 35,773,984 (GRCm39)	V86L	probably damaging	Het
Phactr1	A	G	13: 43,231,416 (GRCm39)	N386S	probably damaging	Het
Pold2	A	T	11: 5,823,516 (GRCm39)	Y304*	probably null	Het
Pou5f2	A	G	13: 78,173,940 (GRCm39)	Y294C	probably benign	Het
Rars1	A	G	11: 35,717,410 (GRCm39)		probably benign	Het
Rbm12b1	A	G	4: 12,145,606 (GRCm39)	E526G	probably benign	Het
Sacs	T	C	14: 61,451,498 (GRCm39)	Y4515H	probably damaging	Het
Sdk2	C	A	11: 113,741,780 (GRCm39)	R813L	probably damaging	Het
Slco1a7	A	T	6: 141,671,181 (GRCm39)	H430Q	probably benign	Het
Spata31e2	A	T	1: 26,724,813 (GRCm39)	N122K	possibly damaging	Het
Spn	A	G	7: 126,736,388 (GRCm39)	S40P	probably damaging	Het
Ssr1	A	G	13: 38,171,761 (GRCm39)		probably benign	Het
Tlr6	C	A	5: 65,111,269 (GRCm39)	C546F	probably damaging	Het
Top1	T	A	2: 160,544,748 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,532 (GRCm39)	S151P	probably damaging	Het
Tubb2b	T	G	13: 34,311,708 (GRCm39)	K362Q	probably benign	Het
Unc13c	T	C	9: 73,643,832 (GRCm39)	T1211A	probably damaging	Het
Vmn1r15	T	C	6: 57,235,729 (GRCm39)	V199A	possibly damaging	Het
Vnn1	A	G	10: 23,776,475 (GRCm39)		probably benign	Het
Vps41	T	A	13: 19,038,786 (GRCm39)	N737K	possibly damaging	Het
Vps50	T	A	6: 3,522,265 (GRCm39)	N144K	probably benign	Het
Zc3h7a	A	T	16: 10,955,340 (GRCm39)	N911K	probably benign	Het
Zkscan7	T	A	9: 122,718,002 (GRCm39)	S132R	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
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
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'- CTCTACCAACTTCTCGAGAGCC -3'
(R):5'- TAGCTGGAACAACCTCTGC -3'

Sequencing Primer
(F):5'- TCGAGAGCCGCCCTTTC -3'
(R):5'- AAGGGTCACTTGCGCAGACTC -3'

Posted On

2014-09-17