Mutagenetix > Incidental Mutation

Incidental Mutation 'R7282:Slc7a14'

565705

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

Accession Numbers

Essential gene?

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

Stock #

R7282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31257007-31364527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31281302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 336 (F336S)

Ref Sequence

ENSEMBL: ENSMUSP00000088803 (fasta)

Gene Model

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

AlphaFold

Q8BXR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091259
AA Change: F336S

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: F336S

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 benign
Transcript: ENSMUST00000108245
AA Change: F336S

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: F336S

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: 98.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	A	11: 58,316,582 (GRCm39)	D187E	probably damaging	Het
Abl2	T	C	1: 156,457,630 (GRCm39)	Y299H	probably damaging	Het
Acsl3	T	A	1: 78,659,709 (GRCm39)	N120K	probably damaging	Het
Aldh1a1	A	G	19: 20,606,434 (GRCm39)	K255R	possibly damaging	Het
Baz2b	C	T	2: 59,750,781 (GRCm39)	R1205H	probably benign	Het
Btbd8	G	T	5: 107,655,062 (GRCm39)	V954L	probably benign	Het
Btbd8	A	G	5: 107,658,371 (GRCm39)	D1647G	probably damaging	Het
Carmil1	A	G	13: 24,197,387 (GRCm39)	S1350P	probably benign	Het
Cecr2	A	T	6: 120,738,582 (GRCm39)	N325I		Het
Cep120	C	T	18: 53,873,161 (GRCm39)	A57T	probably damaging	Het
Chst8	T	C	7: 34,447,628 (GRCm39)		probably null	Het
Cntn4	A	T	6: 106,502,421 (GRCm39)	I393F	probably damaging	Het
Crocc	T	C	4: 140,749,652 (GRCm39)	D1494G	probably damaging	Het
Cwc25	T	C	11: 97,638,832 (GRCm39)	E364G	possibly damaging	Het
Dnah7a	C	A	1: 53,724,059 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,519 (GRCm39)	E5G	probably benign	Het
Ehd4	T	C	2: 119,921,729 (GRCm39)	H509R	probably damaging	Het
Enam	A	T	5: 88,650,186 (GRCm39)	N565I	probably damaging	Het
Evi2a	G	T	11: 79,418,249 (GRCm39)	N120K	probably benign	Het
Faim	A	G	9: 98,874,179 (GRCm39)	T2A	probably benign	Het
Fcgbpl1	A	G	7: 27,843,833 (GRCm39)	N907S	probably benign	Het
Fmnl1	T	C	11: 103,087,091 (GRCm39)	V836A	unknown	Het
Fosb	T	C	7: 19,039,113 (GRCm39)	I224V	possibly damaging	Het
Frem3	A	T	8: 81,338,660 (GRCm39)	T318S	probably damaging	Het
Gm9972	G	A	11: 42,927,631 (GRCm39)	G93R	unknown	Het
Gtf2a1	A	T	12: 91,534,609 (GRCm39)	I215N	possibly damaging	Het
Hs3st3b1	A	G	11: 63,812,397 (GRCm39)	V106A	probably benign	Het
Igkv19-93	T	C	6: 68,713,485 (GRCm39)	D48G	probably benign	Het
Itgb8	A	T	12: 119,201,443 (GRCm39)	W31R	probably benign	Het
Kmt2d	A	T	15: 98,751,985 (GRCm39)	W1995R	unknown	Het
Lama3	G	T	18: 12,572,449 (GRCm39)	Q551H	probably damaging	Het
Lama5	T	C	2: 179,843,588 (GRCm39)	Y453C	probably damaging	Het
Lbhd2	G	A	12: 111,376,724 (GRCm39)	R57H	probably damaging	Het
Lcmt2	A	G	2: 120,969,271 (GRCm39)	V384A	probably damaging	Het
Lgsn	T	G	1: 31,242,452 (GRCm39)	L178R	probably damaging	Het
Lhcgr	C	T	17: 89,065,811 (GRCm39)	V193I	probably benign	Het
Lta4h	T	C	10: 93,289,373 (GRCm39)	M1T	probably null	Het
Ly6l	T	C	15: 75,321,345 (GRCm39)	S14P	probably damaging	Het
Met	C	A	6: 17,547,011 (GRCm39)	C881*	probably null	Het
Mettl21e	A	T	1: 44,249,399 (GRCm39)	Y86N	probably damaging	Het
Mgam	A	T	6: 40,633,446 (GRCm39)	N251Y	possibly damaging	Het
Mgam	A	G	6: 40,740,045 (GRCm39)	T1673A	probably benign	Het
Mmp27	T	A	9: 7,578,231 (GRCm39)	V357D	probably damaging	Het
Muc2	A	G	7: 141,306,481 (GRCm39)	E740G		Het
Myoc	C	A	1: 162,476,413 (GRCm39)	S372R	probably benign	Het
Ncor2	A	T	5: 125,097,104 (GRCm39)	M1358K		Het
Nol6	A	G	4: 41,119,468 (GRCm39)	S613P	probably benign	Het
Nuggc	T	A	14: 65,855,072 (GRCm39)	I334N	probably damaging	Het
Nxnl2	C	T	13: 51,325,542 (GRCm39)	P62S	probably damaging	Het
Ogfod1	C	T	8: 94,764,067 (GRCm39)	H51Y	possibly damaging	Het
Olfml1	T	A	7: 107,189,530 (GRCm39)	D198E	possibly damaging	Het
Or2t26	A	C	11: 49,039,945 (GRCm39)	N287T	probably damaging	Het
Ovch2	C	T	7: 107,393,577 (GRCm39)	R183H	possibly damaging	Het
Plxnd1	A	T	6: 115,937,798 (GRCm39)	L1516Q	probably damaging	Het
Pramel27	A	G	4: 143,578,451 (GRCm39)	N237S	possibly damaging	Het
Prrc2c	A	G	1: 162,507,543 (GRCm39)	V2448A	possibly damaging	Het
Rexo5	C	T	7: 119,417,636 (GRCm39)	T212I	probably damaging	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rnf213	T	G	11: 119,328,818 (GRCm39)	I2030S		Het
Rtf1	C	T	2: 119,505,580 (GRCm39)	A11V	unknown	Het
Setdb1	T	G	3: 95,245,985 (GRCm39)	T647P	probably damaging	Het
Shisa6	G	C	11: 66,393,480 (GRCm39)	P272R	possibly damaging	Het
Slc25a54	G	T	3: 109,023,817 (GRCm39)	G471*	probably null	Het
Slc30a1	A	G	1: 191,641,544 (GRCm39)	T397A	probably benign	Het
Slitrk3	C	T	3: 72,957,798 (GRCm39)	V325I	possibly damaging	Het
Sptan1	A	G	2: 29,876,941 (GRCm39)	Y361C	probably damaging	Het
Stard9	A	G	2: 120,528,984 (GRCm39)	D1747G	probably benign	Het
Taf3	T	C	2: 9,956,253 (GRCm39)	E638G	probably damaging	Het
Tbc1d8	T	C	1: 39,411,614 (GRCm39)	D1074G	probably benign	Het
Tecrl	G	A	5: 83,502,754 (GRCm39)	H32Y	probably benign	Het
Tgm3	T	A	2: 129,866,481 (GRCm39)	M133K	probably benign	Het
Tmem131	A	G	1: 36,880,685 (GRCm39)	F195S	probably damaging	Het
Tmem82	T	C	4: 141,342,261 (GRCm39)	I314V	possibly damaging	Het
Trappc10	T	C	10: 78,043,327 (GRCm39)	E555G	probably damaging	Het
Ubn2	A	T	6: 38,429,811 (GRCm39)	K176*	probably null	Het
Ucp1	G	A	8: 84,020,531 (GRCm39)	G114R	probably benign	Het
Unc5c	A	G	3: 141,383,751 (GRCm39)	D43G	probably damaging	Het
Vmn2r3	C	T	3: 64,168,825 (GRCm39)	V571M	possibly damaging	Het
Vwa3a	A	T	7: 120,385,688 (GRCm39)	I677L	probably benign	Het
Wdr48	T	C	9: 119,740,147 (GRCm39)	S319P	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
R5187:Slc7a14	UTSW	3	31,291,514 (GRCm39)	splice site	probably null
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
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'- CAGACTTTGGCAAGATTCTGAATC -3'
(R):5'- CAGACTACCATGCAAGCCTG -3'

Sequencing Primer
(F):5'- TCTTTAGGAAAGGCAGTCACC -3'
(R):5'- ACCATGCAAGCCTGTTTCCAG -3'

Posted On

2019-06-26