Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:Stra6l'

647802

Institutional Source

Beutler Lab

Gene Symbol

Stra6l

Ensembl Gene

ENSMUSG00000028327

Gene Name

STRA6-like

Synonyms

1300002K09Rik, Rbpr2

MMRRC Submission

067763-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45848664-45887008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45864905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 77 (R77Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030011 (fasta)

Gene Model

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

AlphaFold

Q9DBN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030011
AA Change: R77Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030011
Gene: ENSMUSG00000028327
AA Change: R77Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107782

SMART Domains

Protein: ENSMUSP00000103411
Gene: ENSMUSG00000028327

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107783
AA Change: R77Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103412
Gene: ENSMUSG00000028327
AA Change: R77Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,243,925 (GRCm39)	M1929I	probably benign	Het
Abca13	T	C	11: 9,248,218 (GRCm39)	I2655T	probably damaging	Het
Acad10	A	G	5: 121,764,268 (GRCm39)	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,258 (GRCm39)	E161G	possibly damaging	Het
Astn1	C	T	1: 158,484,670 (GRCm39)	P919L	probably benign	Het
Atp1a4	T	A	1: 172,062,061 (GRCm39)	D688V	probably damaging	Het
C4bp	C	A	1: 130,564,484 (GRCm39)	C400F	probably damaging	Het
Col6a6	A	C	9: 105,651,995 (GRCm39)	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 54,086,360 (GRCm39)	R422C	probably benign	Het
Cutc	T	C	19: 43,741,644 (GRCm39)	S15P	probably benign	Het
Dgkb	T	C	12: 38,652,837 (GRCm39)		probably null	Het
Disc1	T	C	8: 125,959,732 (GRCm39)	V748A	probably benign	Het
Dmbt1	C	G	7: 130,684,317 (GRCm39)	D778E	unknown	Het
Dmxl2	T	C	9: 54,291,037 (GRCm39)	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,643,814 (GRCm39)	N243K	probably benign	Het
Fchsd2	A	T	7: 100,902,780 (GRCm39)	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,797,453 (GRCm39)	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,781,374 (GRCm39)	R59C	probably damaging	Het
Ier5l	A	G	2: 30,363,105 (GRCm39)	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,702,090 (GRCm39)	T906K	probably benign	Het
Kndc1	C	T	7: 139,493,434 (GRCm39)	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,364,213 (GRCm39)	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,264,431 (GRCm39)	M784L	probably benign	Het
Nlrp9b	T	A	7: 19,757,937 (GRCm39)	C391*	probably null	Het
Nubp2	A	C	17: 25,103,439 (GRCm39)	M146R	probably damaging	Het
Or10q3	T	A	19: 11,848,578 (GRCm39)	M1L	probably damaging	Het
Or1a1b	C	T	11: 74,097,221 (GRCm39)	V274M	possibly damaging	Het
Or2ag1b	T	A	7: 106,288,876 (GRCm39)	S21C	probably benign	Het
Or2b2	G	A	13: 21,888,085 (GRCm39)	V305M	probably benign	Het
Or4k45	A	T	2: 111,395,747 (GRCm39)	L14H	probably damaging	Het
Or7e166	A	T	9: 19,624,389 (GRCm39)	N89Y	probably benign	Het
Otud1	T	C	2: 19,663,189 (GRCm39)	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,225,453 (GRCm39)	Y755*	probably null	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,477 (GRCm39)		probably benign	Het
Samhd1	T	C	2: 156,941,353 (GRCm39)	E648G	probably benign	Het
Smarca5	T	C	8: 81,435,756 (GRCm39)	T794A	probably benign	Het
Spc24	A	T	9: 21,669,026 (GRCm39)	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Tdrd1	G	A	19: 56,837,081 (GRCm39)	V472M	probably benign	Het
Tsc2	A	T	17: 24,823,961 (GRCm39)	I948K	possibly damaging	Het
Ttc39d	T	C	17: 80,523,434 (GRCm39)	V31A	probably benign	Het
Vmn1r158	A	T	7: 22,489,305 (GRCm39)	C301*	probably null	Het
Vmn2r22	A	T	6: 123,614,486 (GRCm39)	L368*	probably null	Het
Vmn2r79	A	G	7: 86,651,308 (GRCm39)	T236A	probably benign	Het
Vwa1	T	C	4: 155,857,225 (GRCm39)	H191R	probably benign	Het
Zdbf2	T	A	1: 63,344,135 (GRCm39)	V838E	possibly damaging	Het

Other mutations in Stra6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Stra6l	APN	4	45,864,864 (GRCm39)	splice site	probably null
IGL02343:Stra6l	APN	4	45,869,588 (GRCm39)	missense	probably damaging	0.99
IGL02710:Stra6l	APN	4	45,882,728 (GRCm39)	missense	possibly damaging	0.72
IGL02880:Stra6l	APN	4	45,885,278 (GRCm39)	missense	possibly damaging	0.70
IGL03034:Stra6l	APN	4	45,885,392 (GRCm39)	missense	probably benign	0.41
IGL03163:Stra6l	APN	4	45,881,455 (GRCm39)	missense	probably benign	0.03
IGL03355:Stra6l	APN	4	45,873,689 (GRCm39)	missense	probably benign	0.16
K2124:Stra6l	UTSW	4	45,870,770 (GRCm39)	splice site	probably benign
R0800:Stra6l	UTSW	4	45,882,797 (GRCm39)	missense	probably benign	0.29
R1171:Stra6l	UTSW	4	45,864,982 (GRCm39)	missense	probably benign
R1931:Stra6l	UTSW	4	45,882,698 (GRCm39)	nonsense	probably null
R1982:Stra6l	UTSW	4	45,867,237 (GRCm39)	nonsense	probably null
R2331:Stra6l	UTSW	4	45,858,224 (GRCm39)	critical splice donor site	probably null
R4691:Stra6l	UTSW	4	45,882,851 (GRCm39)	missense	probably benign	0.39
R4846:Stra6l	UTSW	4	45,873,682 (GRCm39)	missense	possibly damaging	0.76
R5175:Stra6l	UTSW	4	45,870,860 (GRCm39)	missense	probably benign	0.01
R5633:Stra6l	UTSW	4	45,881,455 (GRCm39)	missense	probably benign	0.00
R6212:Stra6l	UTSW	4	45,884,664 (GRCm39)	missense	probably benign
R6517:Stra6l	UTSW	4	45,879,473 (GRCm39)	missense	probably benign
R6534:Stra6l	UTSW	4	45,860,041 (GRCm39)	splice site	probably null
R6584:Stra6l	UTSW	4	45,869,635 (GRCm39)	splice site	probably null
R7763:Stra6l	UTSW	4	45,869,570 (GRCm39)	nonsense	probably null
R8511:Stra6l	UTSW	4	45,885,347 (GRCm39)	missense	probably benign	0.00
R9007:Stra6l	UTSW	4	45,864,910 (GRCm39)	missense	possibly damaging	0.81
R9313:Stra6l	UTSW	4	45,881,454 (GRCm39)	missense	probably benign
R9379:Stra6l	UTSW	4	45,849,093 (GRCm39)	missense	probably benign
R9400:Stra6l	UTSW	4	45,885,293 (GRCm39)	missense	probably damaging	1.00
R9764:Stra6l	UTSW	4	45,884,602 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AATCTGTGCTTAGCAGTGTGC -3'
(R):5'- TGACCTTGGGCAAGTAACAGG -3'

Sequencing Primer
(F):5'- CAGTGTGCTTAGACTGTGATTGCAG -3'
(R):5'- ATGTTGTTTTAGCCCTCCAGACAAC -3'

Posted On

2020-09-02