Mutagenetix > Incidental Mutation

Incidental Mutation 'R1605:Stra6'

176410

Institutional Source

Beutler Lab

Gene Symbol

Stra6

Ensembl Gene

ENSMUSG00000032327

Gene Name

stimulated by retinoic acid gene 6

Synonyms

MMRRC Submission

039642-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57971071-58061279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58059166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 510 (M510L)

Ref Sequence

ENSEMBL: ENSMUSP00000130232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034880] [ENSMUST00000041477] [ENSMUST00000085677] [ENSMUST00000167479] [ENSMUST00000168864] [ENSMUST00000170397]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034880
AA Change: M510L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
AA Change: M510L

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	659	1.6e-253	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041477

SMART Domains

Protein: ENSMUSP00000045142
Gene: ENSMUSG00000037206

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
LRRNT	18	54	3.32e-1	SMART
LRR	50	72	1.49e1	SMART
LRR	73	96	5.26e0	SMART
LRR	97	120	1.86e1	SMART
LRR_TYP	121	144	5.81e-2	SMART
LRR_TYP	145	168	5.21e-4	SMART
LRRCT	180	230	2.42e-9	SMART
IGc2	248	334	9.78e-7	SMART
low complexity region	408	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085677
AA Change: M510L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
AA Change: M510L

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	41	658	1.9e-248	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167479
AA Change: M510L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
AA Change: M510L

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	659	1.6e-253	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168864

SMART Domains

Protein: ENSMUSP00000126963
Gene: ENSMUSG00000037206

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
LRRNT	18	54	3.32e-1	SMART
LRR	50	72	1.49e1	SMART
LRR	73	96	5.26e0	SMART
LRR	97	120	1.86e1	SMART
LRR_TYP	121	144	5.81e-2	SMART
LRR_TYP	145	168	5.21e-4	SMART
LRRCT	180	230	2.42e-9	SMART
IGc2	248	334	9.78e-7	SMART
low complexity region	408	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170397
AA Change: M510L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
AA Change: M510L

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	659	1.6e-253	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (75/76)

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 membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Male mice homozygous for a gene trap allele exhibit growth retardation. Mice homozygous for a knock-out allele exhibit persistent hyperplastic primary vitreous, shorter inner and outer segment and reduced rod and cone function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,506,104 (GRCm39)	K211E	probably damaging	Het
Acot7	A	G	4: 152,291,285 (GRCm39)	I84V	possibly damaging	Het
Ankrd44	A	G	1: 54,867,781 (GRCm39)	V34A	probably benign	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Atr	T	A	9: 95,818,516 (GRCm39)	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,983,426 (GRCm39)	R34*	probably null	Het
Ccdc152	T	G	15: 3,327,603 (GRCm39)	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,827,837 (GRCm39)	Q912L	probably benign	Het
Cdc42ep5	T	A	7: 4,154,395 (GRCm39)	H131L	probably benign	Het
Chd7	G	A	4: 8,844,675 (GRCm39)	E1595K	probably damaging	Het
Col11a1	G	A	3: 113,925,290 (GRCm39)	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,385,843 (GRCm39)	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,085,915 (GRCm39)	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012 (GRCm39)	Y119C	probably benign	Het
Dysf	T	C	6: 84,083,923 (GRCm39)	L785P	probably damaging	Het
Eqtn	T	A	4: 94,816,587 (GRCm39)	T69S	possibly damaging	Het
F11	T	A	8: 45,694,617 (GRCm39)	K581N	probably damaging	Het
Gli2	G	A	1: 118,782,290 (GRCm39)	P172S	probably damaging	Het
Gm7579	G	T	7: 141,765,603 (GRCm39)	C3F	unknown	Het
Grin2a	A	G	16: 9,481,194 (GRCm39)	V501A	possibly damaging	Het
Grk4	G	A	5: 34,831,901 (GRCm39)	D57N	probably damaging	Het
Gsdma	A	T	11: 98,557,319 (GRCm39)	D86V	probably damaging	Het
Gsx1	A	G	5: 147,126,738 (GRCm39)	E187G	probably damaging	Het
Hdac1-ps	A	G	17: 78,799,537 (GRCm39)	D176G	probably damaging	Het
Inpp5k	T	A	11: 75,524,307 (GRCm39)	F75L	probably benign	Het
Itpr1	T	C	6: 108,326,620 (GRCm39)	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,032,977 (GRCm39)	C130S	probably damaging	Het
Mei4	G	A	9: 81,809,639 (GRCm39)	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,961,120 (GRCm39)	V39A	probably benign	Het
Mroh2b	G	A	15: 4,974,572 (GRCm39)	R1184H	probably benign	Het
Msh3	T	C	13: 92,436,783 (GRCm39)	Q509R	probably null	Het
Myh8	T	C	11: 67,192,497 (GRCm39)	W1459R	probably damaging	Het
Mypop	T	A	7: 18,734,918 (GRCm39)		probably benign	Het
Ndc1	C	A	4: 107,225,293 (GRCm39)	T3K	probably damaging	Het
Nf1	A	C	11: 79,331,749 (GRCm39)	M695L	probably benign	Het
Nup50l	A	G	6: 96,141,793 (GRCm39)	M417T	probably benign	Het
Nutm2	C	A	13: 50,623,955 (GRCm39)	D217E	possibly damaging	Het
Or52a20	T	C	7: 103,365,858 (GRCm39)	I19T	probably damaging	Het
Or5b122	A	G	19: 13,562,994 (GRCm39)	T109A	probably benign	Het
Pde6c	C	A	19: 38,129,940 (GRCm39)	D283E	probably damaging	Het
Phldb2	A	G	16: 45,591,142 (GRCm39)		probably benign	Het
Pigt	G	C	2: 164,349,419 (GRCm39)	R574P	probably damaging	Het
Pkd1	T	C	17: 24,796,500 (GRCm39)	I2354T	possibly damaging	Het
Prdm15	T	C	16: 97,640,506 (GRCm39)	E27G	probably damaging	Het
Ptpn14	A	G	1: 189,597,709 (GRCm39)	I1140V	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rfx7	T	C	9: 72,519,071 (GRCm39)	S258P	probably damaging	Het
Rnf17	G	T	14: 56,730,822 (GRCm39)	G1209C	probably damaging	Het
S1pr4	C	T	10: 81,335,225 (GRCm39)		probably null	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,277,646 (GRCm39)	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,222,112 (GRCm39)		probably null	Het
Sez6l	A	C	5: 112,622,915 (GRCm39)	I212S	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag9	G	A	11: 93,939,365 (GRCm39)	R98H	probably damaging	Het
Spata31e2	A	T	1: 26,723,511 (GRCm39)	H556Q	possibly damaging	Het
St3gal5	T	C	6: 72,119,272 (GRCm39)	L128P	probably benign	Het
Stxbp5l	A	G	16: 37,028,473 (GRCm39)	V530A	probably benign	Het
Tatdn1	A	G	15: 58,793,039 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,430,206 (GRCm39)	S466P	probably benign	Het
Tmem199	A	T	11: 78,399,152 (GRCm39)	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,744,764 (GRCm39)	E54G	probably benign	Het
Usp37	G	T	1: 74,532,163 (GRCm39)	Q77K	possibly damaging	Het
Vezf1	A	G	11: 87,967,125 (GRCm39)	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,613,932 (GRCm39)	M269L	probably benign	Het
Wdr93	C	A	7: 79,421,257 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,214,370 (GRCm39)	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,574,923 (GRCm39)	R1591*	probably null	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp180	T	A	7: 23,804,049 (GRCm39)	V156D	probably benign	Het
Zfp646	G	T	7: 127,479,359 (GRCm39)		probably null	Het
Zscan12	C	A	13: 21,550,813 (GRCm39)	T144K	probably benign	Het

Other mutations in Stra6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Stra6	APN	9	58,059,854 (GRCm39)	missense	probably benign	0.01
IGL01885:Stra6	APN	9	58,048,431 (GRCm39)	missense	probably damaging	1.00
IGL02219:Stra6	APN	9	58,047,752 (GRCm39)	missense	probably benign	0.18
IGL02550:Stra6	APN	9	58,057,366 (GRCm39)	missense	possibly damaging	0.95
IGL02745:Stra6	APN	9	58,059,321 (GRCm39)	missense	probably damaging	1.00
IGL02999:Stra6	APN	9	58,042,396 (GRCm39)	missense	probably benign	0.19
R0034:Stra6	UTSW	9	58,058,752 (GRCm39)	splice site	probably null
R0070:Stra6	UTSW	9	58,059,898 (GRCm39)	splice site	probably benign
R0070:Stra6	UTSW	9	58,059,898 (GRCm39)	splice site	probably benign
R0281:Stra6	UTSW	9	58,052,772 (GRCm39)	missense	probably benign	0.11
R0387:Stra6	UTSW	9	58,060,466 (GRCm39)	missense	probably benign	0.13
R0879:Stra6	UTSW	9	58,042,487 (GRCm39)	critical splice donor site	probably null
R1075:Stra6	UTSW	9	58,058,687 (GRCm39)	missense	possibly damaging	0.79
R1840:Stra6	UTSW	9	58,047,813 (GRCm39)	missense	probably benign	0.00
R1896:Stra6	UTSW	9	58,059,166 (GRCm39)	missense	probably benign
R2149:Stra6	UTSW	9	58,059,822 (GRCm39)	missense	probably benign	0.01
R4016:Stra6	UTSW	9	58,042,473 (GRCm39)	missense	probably damaging	0.99
R4127:Stra6	UTSW	9	58,058,501 (GRCm39)	missense	probably damaging	1.00
R4243:Stra6	UTSW	9	58,050,309 (GRCm39)	missense	probably benign	0.06
R4631:Stra6	UTSW	9	58,048,115 (GRCm39)	intron	probably benign
R4671:Stra6	UTSW	9	58,056,517 (GRCm39)	missense	probably benign	0.01
R4688:Stra6	UTSW	9	58,042,359 (GRCm39)	critical splice acceptor site	probably null
R5091:Stra6	UTSW	9	58,048,429 (GRCm39)	missense	probably damaging	1.00
R6179:Stra6	UTSW	9	58,042,452 (GRCm39)	missense	probably damaging	1.00
R6486:Stra6	UTSW	9	58,058,705 (GRCm39)	frame shift	probably null
R6593:Stra6	UTSW	9	58,059,262 (GRCm39)	missense	probably benign	0.00
R7368:Stra6	UTSW	9	58,058,543 (GRCm39)	missense	probably benign	0.03
R7395:Stra6	UTSW	9	58,048,380 (GRCm39)	missense	probably damaging	1.00
R7503:Stra6	UTSW	9	58,058,528 (GRCm39)	missense	possibly damaging	0.70
R7807:Stra6	UTSW	9	58,057,444 (GRCm39)	missense	probably damaging	0.97
R8099:Stra6	UTSW	9	58,059,777 (GRCm39)	missense	probably damaging	1.00
R8377:Stra6	UTSW	9	58,056,488 (GRCm39)	missense	probably damaging	1.00
R8780:Stra6	UTSW	9	58,042,254 (GRCm39)	intron	probably benign
R8817:Stra6	UTSW	9	58,059,265 (GRCm39)	missense	possibly damaging	0.94
R9117:Stra6	UTSW	9	58,059,822 (GRCm39)	missense	probably benign	0.01
R9495:Stra6	UTSW	9	58,059,175 (GRCm39)	missense	probably benign	0.03
R9582:Stra6	UTSW	9	58,054,770 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAATGCCTCCTCCTGAGCTGTCAC -3'
(R):5'- TTGTCCTGCACCAAGAAGCTCTG -3'

Sequencing Primer
(F):5'- tgctgagaacccacaacc -3'
(R):5'- AGAAGCTCTGGCACGTCTTAG -3'

Posted On

2014-04-24