Mutagenetix > Incidental Mutation

Incidental Mutation 'R8843:Slc7a14'

674518

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R8843 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31202858-31310378 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31257610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 87 (V87A)

Ref Sequence

ENSEMBL: ENSMUSP00000103880 (fasta)

Gene Model

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

AlphaFold

Q8BXR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000091259
AA Change: V87A

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

SMART Domains

Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: V87A

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 damaging
Transcript: ENSMUST00000108245
AA Change: V87A

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

SMART Domains

Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: V87A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	C	7: 140,249,000	T191P	possibly damaging	Het
AB124611	C	G	9: 21,529,035	Q106E	probably benign	Het
Abi2	A	G	1: 60,453,729	M387V	probably null	Het
Adra2c	A	T	5: 35,280,363	N160Y	probably damaging	Het
Ager	G	A	17: 34,600,742	R383H	probably benign	Het
Arhgef28	C	T	13: 97,994,049	R427H	probably benign	Het
Atl1	T	A	12: 69,926,148	S81T	probably damaging	Het
Ccdc80	T	A	16: 45,127,107		probably benign	Het
Cdh10	T	A	15: 19,013,401	F696I	possibly damaging	Het
Cdk2ap2	T	C	19: 4,097,429	S2P	unknown	Het
Cela1	G	A	15: 100,682,940	T145I	probably benign	Het
Celsr2	A	T	3: 108,396,127		probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
Col22a1	A	G	15: 72,006,654	I218T	probably damaging	Het
Copb1	T	C	7: 114,221,700	I785V	possibly damaging	Het
Dnajc16	A	T	4: 141,764,691	V607E	possibly damaging	Het
Dnali1	A	T	4: 125,063,621	L110Q	probably damaging	Het
Epn1	A	G	7: 5,093,376	E223G	probably benign	Het
Erbb3	A	G	10: 128,578,456	L473P	possibly damaging	Het
Fam160a1	A	G	3: 85,661,011	I1067T	possibly damaging	Het
Gadl1	T	A	9: 116,006,501	D332E	probably benign	Het
Gm10801	TC	TCGAC	2: 98,663,806		probably benign	Het
Heg1	A	G	16: 33,750,493	S1188G	probably null	Het
Hipk3	G	A	2: 104,437,897	A575V	probably benign	Het
Htt	T	A	5: 34,889,465	I2375N	possibly damaging	Het
Klhl24	A	T	16: 20,120,230	K512*	probably null	Het
Krtdap	A	T	7: 30,789,527	Y40F	probably damaging	Het
Lhx1	A	T	11: 84,519,629	S381T	probably benign	Het
Lnpep	G	A	17: 17,552,941	P655L	probably damaging	Het
Map6d1	A	G	16: 20,236,636	V150A	probably benign	Het
March10	A	G	11: 105,401,976	S202P	possibly damaging	Het
Med1	A	C	11: 98,189,276	L13R	possibly damaging	Het
Mxi1	G	A	19: 53,371,695	G283S	probably damaging	Het
Myh7	T	G	14: 54,975,295	D1431A	probably damaging	Het
Myo3b	G	T	2: 70,257,981	G863W	probably damaging	Het
Nat8f1	G	T	6: 85,910,925	Q18K	probably benign	Het
Ncaph	A	G	2: 127,108,609	V576A	probably benign	Het
Nfkbia	T	G	12: 55,492,411	D39A	possibly damaging	Het
Nrxn2	G	T	19: 6,505,027	G1179C	probably damaging	Het
Olfr361	A	C	2: 37,085,295	V151G	probably damaging	Het
P4ha1	A	G	10: 59,369,633	D495G	probably damaging	Het
Phf20	C	T	2: 156,302,923	A817V	probably benign	Het
Phlpp2	A	T	8: 109,925,799	I592F	probably benign	Het
Polq	A	G	16: 37,011,918	S7G	unknown	Het
Ppfia3	G	T	7: 45,348,517	Q729K	probably benign	Het
Prmt8	A	C	6: 127,729,499	F110V	probably damaging	Het
Psca	A	T	15: 74,716,019		probably null	Het
Pus7	G	T	5: 23,775,756	D165E	probably benign	Het
Raver2	A	G	4: 101,137,745	E555G	probably damaging	Het
Rb1cc1	G	A	1: 6,245,171	V457M	probably damaging	Het
Rbp3	A	G	14: 33,954,565	R157G	probably benign	Het
Rin3	T	G	12: 102,369,598	H589Q	probably benign	Het
Sgk2	T	A	2: 163,012,970	S334T	probably damaging	Het
Sh2d4b	T	C	14: 40,892,875	M31V	probably benign	Het
Slc23a3	G	A	1: 75,129,627	T316I	probably damaging	Het
Slc5a4b	C	A	10: 76,075,091	G304C	probably damaging	Het
Slitrk3	A	T	3: 73,048,831	N869K	probably benign	Het
St8sia6	T	C	2: 13,657,085	R312G	possibly damaging	Het
Strip2	A	T	6: 29,923,969	E94V	probably benign	Het
Sycp2	T	C	2: 178,348,259	D1398G	probably damaging	Het
Syne1	C	A	10: 5,193,040	V114F	possibly damaging	Het
Syne1	T	C	10: 5,330,204	K1630E	probably benign	Het
Sytl2	A	G	7: 90,376,126	N441D	probably benign	Het
Thsd7a	A	G	6: 12,501,137	C424R		Het
Tln2	T	C	9: 67,395,545	D48G	probably damaging	Het
Treml1	A	G	17: 48,366,824	T288A	probably damaging	Het
Ttn	T	C	2: 76,765,769	I20267V	probably benign	Het
Ttn	A	T	2: 76,848,915	V10821D	unknown	Het
Vmn2r111	A	C	17: 22,548,030	S829A	probably benign	Het
Xcl1	T	A	1: 164,935,510		probably benign	Het
Zdhhc23	A	T	16: 43,973,864	V149E	probably damaging	Het
Zfp273	A	T	13: 67,822,268	I12F	possibly damaging	Het
Zfp874a	A	T	13: 67,442,645	C307S	probably damaging	Het

Other mutations in Slc7a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02631:Slc7a14	APN	3	31238678	missense	probably damaging	1.00
IGL02713:Slc7a14	APN	3	31257763	missense	probably damaging	0.96
IGL03341:Slc7a14	APN	3	31238770	missense	probably damaging	1.00
IGL03350:Slc7a14	APN	3	31237409	missense	probably benign	0.35
IGL03379:Slc7a14	APN	3	31223515	missense	probably damaging	1.00
R0064:Slc7a14	UTSW	3	31227060	missense	probably damaging	1.00
R1549:Slc7a14	UTSW	3	31224118	missense	possibly damaging	0.94
R1591:Slc7a14	UTSW	3	31237449	missense	probably damaging	1.00
R2054:Slc7a14	UTSW	3	31237362	splice site	probably benign
R2057:Slc7a14	UTSW	3	31237496	missense	probably damaging	1.00
R2442:Slc7a14	UTSW	3	31230320	missense	probably damaging	1.00
R2504:Slc7a14	UTSW	3	31237501	missense	possibly damaging	0.85
R3848:Slc7a14	UTSW	3	31237474	missense	probably damaging	1.00
R4653:Slc7a14	UTSW	3	31257682	missense	probably damaging	1.00
R4702:Slc7a14	UTSW	3	31230398	missense	probably damaging	1.00
R5043:Slc7a14	UTSW	3	31237466	missense	probably damaging	1.00
R5187:Slc7a14	UTSW	3	31237365	splice site	probably null
R5345:Slc7a14	UTSW	3	31223857	missense	probably damaging	0.99
R5393:Slc7a14	UTSW	3	31257770	missense	probably damaging	1.00
R5421:Slc7a14	UTSW	3	31224197	missense	probably damaging	1.00
R5736:Slc7a14	UTSW	3	31223910	missense	probably benign	0.00
R5771:Slc7a14	UTSW	3	31238707	missense	probably damaging	1.00
R5896:Slc7a14	UTSW	3	31257570	missense	probably damaging	1.00
R5996:Slc7a14	UTSW	3	31209236	missense	probably benign
R6020:Slc7a14	UTSW	3	31224112	missense	probably benign
R6107:Slc7a14	UTSW	3	31257610	missense	probably damaging	1.00
R6140:Slc7a14	UTSW	3	31237548	missense	probably benign
R6491:Slc7a14	UTSW	3	31223944	missense	probably damaging	1.00
R6846:Slc7a14	UTSW	3	31224223	missense	probably damaging	1.00
R6990:Slc7a14	UTSW	3	31223579	missense	possibly damaging	0.90
R7184:Slc7a14	UTSW	3	31227063	missense	probably damaging	0.98
R7271:Slc7a14	UTSW	3	31224235	missense	probably damaging	1.00
R7282:Slc7a14	UTSW	3	31227153	missense	possibly damaging	0.67
R7331:Slc7a14	UTSW	3	31257731	missense	probably benign	0.00
R8227:Slc7a14	UTSW	3	31209212	missense	probably benign	0.00
R8238:Slc7a14	UTSW	3	31227151	missense	probably benign	0.01
R8524:Slc7a14	UTSW	3	31224133	missense	possibly damaging	0.70
R8903:Slc7a14	UTSW	3	31223446	missense	probably damaging	0.98
R9011:Slc7a14	UTSW	3	31224196	missense	probably damaging	1.00
R9208:Slc7a14	UTSW	3	31227210	missense	probably damaging	1.00
R9633:Slc7a14	UTSW	3	31224017	missense	probably benign	0.31
Z1088:Slc7a14	UTSW	3	31223999	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACAGGACAGAATTGAATTGCAC -3'
(R):5'- CAAACCAGTGGAGTCCATGC -3'

Sequencing Primer
(F):5'- TGCACAAATTGTCCTCAGGTAC -3'
(R):5'- TCCATGCTGGAGGGAACTG -3'

Posted On

2021-07-15