Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Slc7a14'

397946

Institutional Source

Beutler Lab

Gene Symbol

Slc7a14

Ensembl Gene

ENSMUSG00000069072

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 14

Synonyms

MMRRC Submission

042766-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R5187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31257007-31364527 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 31291514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091259] [ENSMUST00000108245]

AlphaFold

Q8BXR1

Predicted Effect

probably null
Transcript: ENSMUST00000091259

SMART Domains

Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	53	443	2.1e-44	PFAM
Pfam:AA_permease	57	436	7.2e-38	PFAM
transmembrane domain	563	585	N/A	INTRINSIC
transmembrane domain	595	617	N/A	INTRINSIC
Pfam:AA_permease_C	627	677	9.2e-21	PFAM
low complexity region	737	757	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108245

SMART Domains

Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	53	445	2.5e-46	PFAM
Pfam:AA_permease	57	437	6.9e-41	PFAM
transmembrane domain	563	585	N/A	INTRINSIC
transmembrane domain	595	617	N/A	INTRINSIC
Pfam:AA_permease_C	627	668	1.4e-17	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal eye electrophysiology, thin retinal outer nuclear and decreased total retinal thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcg5	A	G	17: 84,965,992 (GRCm39)	L628S	probably damaging	Het
Acbd3	C	T	1: 180,564,297 (GRCm39)	R201*	probably null	Het
Adsl	A	G	15: 80,833,106 (GRCm39)		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cachd1	T	C	4: 100,823,397 (GRCm39)	V483A	possibly damaging	Het
Calm1	T	C	12: 100,166,472 (GRCm39)	S19P	probably benign	Het
Casq1	T	C	1: 172,040,641 (GRCm39)	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,935 (GRCm39)	A64S	possibly damaging	Het
Ccdc167	C	A	17: 29,924,485 (GRCm39)	A39S	possibly damaging	Het
Cd274	T	C	19: 29,359,936 (GRCm39)	L247P	probably benign	Het
Cdhr5	T	C	7: 140,854,361 (GRCm39)	E138G	probably damaging	Het
Cltb	C	T	13: 54,741,693 (GRCm39)	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865 (GRCm39)	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,212,717 (GRCm39)	Q106K	possibly damaging	Het
Ctsh	T	C	9: 89,936,643 (GRCm39)	L14P	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 86,909,001 (GRCm39)	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,489,857 (GRCm39)	I184T	probably damaging	Het
Ddx60	T	A	8: 62,427,222 (GRCm39)	W766R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,318 (GRCm39)	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,464,050 (GRCm39)	N38K	probably benign	Het
Ermap	T	C	4: 119,043,015 (GRCm39)		probably null	Het
Fryl	A	G	5: 73,243,943 (GRCm39)	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,750,799 (GRCm39)	E76G	possibly damaging	Het
Grk6	T	C	13: 55,599,519 (GRCm39)	C169R	probably damaging	Het
Hmgn1	A	T	16: 95,923,627 (GRCm39)		probably null	Het
Lpcat2b	T	A	5: 107,582,001 (GRCm39)	Y443*	probably null	Het
Macf1	T	A	4: 123,365,882 (GRCm39)	M1395L	probably benign	Het
Mllt10	C	T	2: 18,213,585 (GRCm39)	Q997*	probably null	Het
Mocos	T	A	18: 24,825,611 (GRCm39)	V722E	probably damaging	Het
Moxd2	A	T	6: 40,856,271 (GRCm39)	L534M	probably benign	Het
Mphosph10	T	C	7: 64,035,568 (GRCm39)	M368V	possibly damaging	Het
Myo15a	G	A	11: 60,394,440 (GRCm39)	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,834,745 (GRCm39)	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,231,560 (GRCm39)	L43H	probably damaging	Het
Niban1	T	A	1: 151,579,580 (GRCm39)	L433Q	possibly damaging	Het
Nsl1	A	G	1: 190,807,387 (GRCm39)	N189D	probably benign	Het
Odad1	A	G	7: 45,578,540 (GRCm39)	I77V	probably damaging	Het
Or51e1	A	T	7: 102,358,868 (GRCm39)	H134L	probably damaging	Het
Pcdh8	T	C	14: 80,007,594 (GRCm39)	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,279,448 (GRCm39)	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,783,155 (GRCm39)	E42D	probably damaging	Het
Rasal1	C	A	5: 120,813,460 (GRCm39)	H611Q	probably benign	Het
Relch	T	A	1: 105,646,534 (GRCm39)	L620*	probably null	Het
Rif1	T	A	2: 51,971,301 (GRCm39)	W260R	probably damaging	Het
Rpain	A	G	11: 70,864,658 (GRCm39)	D115G	probably benign	Het
Rpl3l	T	C	17: 24,951,429 (GRCm39)	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,787,338 (GRCm39)	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,894,631 (GRCm39)	V480A	probably benign	Het
Slc35a3	T	A	3: 116,474,794 (GRCm39)	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,200,322 (GRCm39)	Y121C	probably damaging	Het
Sort1	T	A	3: 108,231,992 (GRCm39)	I172N	probably damaging	Het
Spink5	C	A	18: 44,122,518 (GRCm39)	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,263,770 (GRCm39)	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,573,954 (GRCm39)	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,628,434 (GRCm39)	D174G	probably benign	Het
Tmem42	T	C	9: 122,851,232 (GRCm39)	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,723,177 (GRCm39)	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,100,571 (GRCm39)	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,333,208 (GRCm39)	L14Q	probably null	Het
Xirp2	T	C	2: 67,345,711 (GRCm39)	S2651P	probably benign	Het
Zfp429	G	A	13: 67,538,959 (GRCm39)	L162F	probably damaging	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het

Other mutations in Slc7a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02631:Slc7a14	APN	3	31,292,827 (GRCm39)	missense	probably damaging	1.00
IGL02713:Slc7a14	APN	3	31,311,912 (GRCm39)	missense	probably damaging	0.96
IGL03341:Slc7a14	APN	3	31,292,919 (GRCm39)	missense	probably damaging	1.00
IGL03350:Slc7a14	APN	3	31,291,558 (GRCm39)	missense	probably benign	0.35
IGL03379:Slc7a14	APN	3	31,277,664 (GRCm39)	missense	probably damaging	1.00
R0064:Slc7a14	UTSW	3	31,281,209 (GRCm39)	missense	probably damaging	1.00
R1549:Slc7a14	UTSW	3	31,278,267 (GRCm39)	missense	possibly damaging	0.94
R1591:Slc7a14	UTSW	3	31,291,598 (GRCm39)	missense	probably damaging	1.00
R2054:Slc7a14	UTSW	3	31,291,511 (GRCm39)	splice site	probably benign
R2057:Slc7a14	UTSW	3	31,291,645 (GRCm39)	missense	probably damaging	1.00
R2442:Slc7a14	UTSW	3	31,284,469 (GRCm39)	missense	probably damaging	1.00
R2504:Slc7a14	UTSW	3	31,291,650 (GRCm39)	missense	possibly damaging	0.85
R3848:Slc7a14	UTSW	3	31,291,623 (GRCm39)	missense	probably damaging	1.00
R4653:Slc7a14	UTSW	3	31,311,831 (GRCm39)	missense	probably damaging	1.00
R4702:Slc7a14	UTSW	3	31,284,547 (GRCm39)	missense	probably damaging	1.00
R5043:Slc7a14	UTSW	3	31,291,615 (GRCm39)	missense	probably damaging	1.00
R5345:Slc7a14	UTSW	3	31,278,006 (GRCm39)	missense	probably damaging	0.99
R5393:Slc7a14	UTSW	3	31,311,919 (GRCm39)	missense	probably damaging	1.00
R5421:Slc7a14	UTSW	3	31,278,346 (GRCm39)	missense	probably damaging	1.00
R5736:Slc7a14	UTSW	3	31,278,059 (GRCm39)	missense	probably benign	0.00
R5771:Slc7a14	UTSW	3	31,292,856 (GRCm39)	missense	probably damaging	1.00
R5896:Slc7a14	UTSW	3	31,311,719 (GRCm39)	missense	probably damaging	1.00
R5996:Slc7a14	UTSW	3	31,263,385 (GRCm39)	missense	probably benign
R6020:Slc7a14	UTSW	3	31,278,261 (GRCm39)	missense	probably benign
R6107:Slc7a14	UTSW	3	31,311,759 (GRCm39)	missense	probably damaging	1.00
R6140:Slc7a14	UTSW	3	31,291,697 (GRCm39)	missense	probably benign
R6491:Slc7a14	UTSW	3	31,278,093 (GRCm39)	missense	probably damaging	1.00
R6846:Slc7a14	UTSW	3	31,278,372 (GRCm39)	missense	probably damaging	1.00
R6990:Slc7a14	UTSW	3	31,277,728 (GRCm39)	missense	possibly damaging	0.90
R7184:Slc7a14	UTSW	3	31,281,212 (GRCm39)	missense	probably damaging	0.98
R7271:Slc7a14	UTSW	3	31,278,384 (GRCm39)	missense	probably damaging	1.00
R7282:Slc7a14	UTSW	3	31,281,302 (GRCm39)	missense	possibly damaging	0.67
R7331:Slc7a14	UTSW	3	31,311,880 (GRCm39)	missense	probably benign	0.00
R8227:Slc7a14	UTSW	3	31,263,361 (GRCm39)	missense	probably benign	0.00
R8238:Slc7a14	UTSW	3	31,281,300 (GRCm39)	missense	probably benign	0.01
R8524:Slc7a14	UTSW	3	31,278,282 (GRCm39)	missense	possibly damaging	0.70
R8843:Slc7a14	UTSW	3	31,311,759 (GRCm39)	missense	probably damaging	1.00
R8903:Slc7a14	UTSW	3	31,277,595 (GRCm39)	missense	probably damaging	0.98
R9011:Slc7a14	UTSW	3	31,278,345 (GRCm39)	missense	probably damaging	1.00
R9208:Slc7a14	UTSW	3	31,281,359 (GRCm39)	missense	probably damaging	1.00
R9633:Slc7a14	UTSW	3	31,278,166 (GRCm39)	missense	probably benign	0.31
Z1088:Slc7a14	UTSW	3	31,278,148 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGCTGTCATTGCTACCTGTG -3'
(R):5'- GGATGGGTCCACCTTCTTTAG -3'

Sequencing Primer
(F):5'- TCATTGCTACCTGTGTGGAC -3'
(R):5'- GAAGAGTCGTACCCAGACCTTCTG -3'

Posted On

2016-07-06