Mutagenetix > Incidental Mutations

Incidental Mutation 'R5633:Stra6l'

439968

Institutional Source

Beutler Lab

Gene Symbol

Stra6l

Ensembl Gene

ENSMUSG00000028327

Gene Name

STRA6-like

Synonyms

Rbpr2, 1300002K09Rik

MMRRC Submission

043284-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45848664-45887008 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45881455 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 439 (I439K)

Ref Sequence

ENSEMBL: ENSMUSP00000103412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030011] [ENSMUST00000107782] [ENSMUST00000107783]

Predicted Effect

probably benign
Transcript: ENSMUST00000030011
AA Change: I439K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000030011
Gene: ENSMUSG00000028327
AA Change: I439K

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	13	602	8.7e-228	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107782
AA Change: I348K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103411
Gene: ENSMUSG00000028327
AA Change: I348K

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	1	512	2.8e-221	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107783
AA Change: I439K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103412
Gene: ENSMUSG00000028327
AA Change: I439K

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	12	603	1e-254	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165478

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,618,028	C125S	probably benign	Het
Abcb8	T	C	5: 24,403,109	L382P	probably damaging	Het
Acot3	A	G	12: 84,058,950		probably null	Het
Acsl6	A	T	11: 54,337,189	Q345L	probably benign	Het
Adcy8	A	G	15: 64,699,285	S1170P	probably damaging	Het
Ankrd28	T	G	14: 31,735,065	D182A	probably damaging	Het
B3galt5	A	T	16: 96,315,509	H114L	probably benign	Het
BC053393	C	T	11: 46,574,606	S9L	unknown	Het
Bcas2	T	A	3: 103,178,424	Y207*	probably null	Het
Best1	A	G	19: 9,992,103	L197P	probably benign	Het
Chil6	C	A	3: 106,388,752	C389F	probably damaging	Het
Chrna4	T	C	2: 181,029,460	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,363,629		probably benign	Het
Dhcr7	T	C	7: 143,847,423	L441P	probably damaging	Het
Dmtn	T	C	14: 70,604,979	M365V	probably benign	Het
Dmxl1	T	A	18: 49,877,697	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,507,419	D150G	probably benign	Het
Eef2k	C	A	7: 120,873,290		probably benign	Het
Elp2	T	A	18: 24,615,210	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,095		probably null	Het
Gm11559	C	A	11: 99,864,586	C20*	probably null	Het
Gnb2	T	C	5: 137,529,192	I213V	probably benign	Het
Gnb5	C	T	9: 75,344,514	T306I	probably damaging	Het
Ica1	A	T	6: 8,667,257	I303N	possibly damaging	Het
Idh1	A	G	1: 65,165,136	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,539,097	Q273*	probably null	Het
Itpkb	A	T	1: 180,327,225		probably benign	Het
Kntc1	C	T	5: 123,819,057	T2143I	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,748,862	D464E	possibly damaging	Het
Med13	A	G	11: 86,278,931		probably benign	Het
Mn1	T	C	5: 111,420,326	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,868,184	L1026Q	possibly damaging	Het
Olfr773	A	T	10: 129,186,849	F191I	probably benign	Het
P4htm	A	C	9: 108,579,723	D428E	probably damaging	Het
Parp8	C	T	13: 116,876,580	R602H	probably damaging	Het
Pkd2	T	A	5: 104,498,506	S726R	probably damaging	Het
Pla2g6	A	T	15: 79,299,142	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,856,488	I359T	probably benign	Het
Rassf6	T	C	5: 90,604,118	H292R	possibly damaging	Het
Rnf145	T	C	11: 44,560,088	I413T	probably damaging	Het
Rpn2	T	A	2: 157,283,596	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,086,990	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,846,587	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,369,261	P163Q	probably damaging	Het
Smc4	T	A	3: 69,008,110	I165K	probably damaging	Het
Syt9	C	T	7: 107,425,296	T132I	probably damaging	Het
Trpm2	T	C	10: 77,938,353	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,363,349	M358T	probably benign	Het
Vmn1r91	A	T	7: 20,101,945	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,561,044	D648G	probably benign	Het
Zpbp2	T	C	11: 98,554,758	I150T	probably damaging	Het

Other mutations in Stra6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Stra6l	APN	4	45864864	splice site	probably null
IGL02343:Stra6l	APN	4	45869588	missense	probably damaging	0.99
IGL02710:Stra6l	APN	4	45882728	missense	possibly damaging	0.72
IGL02880:Stra6l	APN	4	45885278	missense	possibly damaging	0.70
IGL03034:Stra6l	APN	4	45885392	missense	probably benign	0.41
IGL03163:Stra6l	APN	4	45881455	missense	probably benign	0.03
IGL03355:Stra6l	APN	4	45873689	missense	probably benign	0.16
K2124:Stra6l	UTSW	4	45870770	splice site	probably benign
R0800:Stra6l	UTSW	4	45882797	missense	probably benign	0.29
R1171:Stra6l	UTSW	4	45864982	missense	probably benign
R1931:Stra6l	UTSW	4	45882698	nonsense	probably null
R1982:Stra6l	UTSW	4	45867237	nonsense	probably null
R2331:Stra6l	UTSW	4	45858224	critical splice donor site	probably null
R4691:Stra6l	UTSW	4	45882851	missense	probably benign	0.39
R4846:Stra6l	UTSW	4	45873682	missense	possibly damaging	0.76
R5175:Stra6l	UTSW	4	45870860	missense	probably benign	0.01
R6212:Stra6l	UTSW	4	45884664	missense	probably benign
R6517:Stra6l	UTSW	4	45879473	missense	probably benign
R6534:Stra6l	UTSW	4	45860041	splice site	probably null
R6584:Stra6l	UTSW	4	45869635	splice site	probably null
R7763:Stra6l	UTSW	4	45869570	nonsense	probably null
R8400:Stra6l	UTSW	4	45864905	missense	probably damaging	1.00
R8511:Stra6l	UTSW	4	45885347	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGGGAATCACAGCTCAGAG -3'
(R):5'- TCAGAGCACTCCAGAGACTG -3'

Sequencing Primer
(F):5'- GCTCAGAGCTTGTTCTACTGTTC -3'
(R):5'- CAGAGACTGCCCATCAATAGGTAG -3'

Posted On

2016-11-08