Mutagenetix > Incidental Mutation

Incidental Mutation 'R5896:Slc7a14'

457496

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

044095-MU

Accession Numbers

Essential gene?

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

Stock #

R5896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31257007-31364527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31311719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 100 (L100F)

Ref Sequence

ENSEMBL: ENSMUSP00000088803 (fasta)

Gene Model

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

AlphaFold

Q8BXR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000091259
AA Change: L100F

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

SMART Domains

Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: L100F

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

possibly damaging
Transcript: ENSMUST00000108245
AA Change: L100F

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: L100F

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: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

99% (86/87)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	A	T	16: 88,504,321 (GRCm39)	S159T	probably damaging	Het
2610028H24Rik	T	A	10: 76,288,664 (GRCm39)	M53K	probably benign	Het
3425401B19Rik	G	A	14: 32,383,632 (GRCm39)	Q778*	probably null	Het
Abhd16a	T	A	17: 35,310,701 (GRCm39)		probably benign	Het
Acp6	A	G	3: 97,075,810 (GRCm39)	K226R	probably benign	Het
Ankfy1	A	G	11: 72,650,811 (GRCm39)	D998G	probably damaging	Het
Apbb1	G	T	7: 105,223,432 (GRCm39)	P60T	probably damaging	Het
Apol9a	T	A	15: 77,288,705 (GRCm39)	I221F	probably benign	Het
Arhgap29	A	G	3: 121,805,736 (GRCm39)	E947G	possibly damaging	Het
B430218F22Rik	A	T	13: 118,523,934 (GRCm39)		probably benign	Het
Carmil3	ACCCCC	ACCCCCCC	14: 55,741,456 (GRCm39)		probably null	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccdc93	G	T	1: 121,390,849 (GRCm39)	V274L	possibly damaging	Het
Cdc25a	A	G	9: 109,713,433 (GRCm39)	D191G	probably benign	Het
Cimip2a	A	T	2: 25,110,578 (GRCm39)	M129L	probably benign	Het
Cmya5	A	G	13: 93,182,373 (GRCm39)		probably null	Het
Crebzf	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	7: 90,092,479 (GRCm39)		probably benign	Het
Csde1	T	C	3: 102,947,859 (GRCm39)		probably benign	Het
Ctdp1	A	G	18: 80,502,003 (GRCm39)	L177P	probably damaging	Het
Dnah5	T	A	15: 28,272,206 (GRCm39)	H1003Q	probably benign	Het
Epb41l2	T	A	10: 25,369,494 (GRCm39)	N604K	probably damaging	Het
Fig4	T	A	10: 41,130,881 (GRCm39)	N465Y	possibly damaging	Het
Gemin7	G	A	7: 19,299,223 (GRCm39)	S124F	probably damaging	Het
Gli3	G	A	13: 15,900,765 (GRCm39)	R1384K	probably benign	Het
Gm12258	G	A	11: 58,750,457 (GRCm39)	C544Y	probably damaging	Het
Grm1	C	T	10: 10,956,294 (GRCm39)		probably benign	Het
H2-T15	T	A	17: 36,367,236 (GRCm39)	M329L	probably benign	Het
Hps4	C	T	5: 112,517,351 (GRCm39)	T246I	probably benign	Het
Ifngr2	A	T	16: 91,358,653 (GRCm39)	E284D	possibly damaging	Het
Impdh2	A	G	9: 108,441,165 (GRCm39)	T148A	probably benign	Het
Irx3	T	C	8: 92,527,763 (GRCm39)	S36G	probably benign	Het
Itga5	T	A	15: 103,259,514 (GRCm39)	K667N	probably benign	Het
Itgad	G	A	7: 127,773,188 (GRCm39)	C15Y	probably benign	Het
Ly75	T	G	2: 60,213,490 (GRCm39)	E29A	probably benign	Het
Magi1	T	A	6: 93,685,180 (GRCm39)	S506C	probably damaging	Het
Map4	G	A	9: 109,901,702 (GRCm39)	V781M	possibly damaging	Het
Med23	T	C	10: 24,778,043 (GRCm39)	L797P	probably damaging	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Ncor1	G	T	11: 62,274,016 (GRCm39)	P55Q	probably damaging	Het
Odr4	A	T	1: 150,256,111 (GRCm39)	N211K	probably benign	Het
Ofcc1	T	A	13: 40,334,060 (GRCm39)	I344F	probably benign	Het
Or4a74	C	A	2: 89,439,667 (GRCm39)	V260F	probably damaging	Het
Or4d5	A	T	9: 40,012,189 (GRCm39)	M199K	probably damaging	Het
Or5d35	A	G	2: 87,855,465 (GRCm39)	Y133C	probably damaging	Het
Or5k1	G	A	16: 58,618,095 (GRCm39)	T38I	probably damaging	Het
Otub2	C	T	12: 103,369,687 (GRCm39)		probably benign	Het
Parva	A	G	7: 112,143,960 (GRCm39)	M83V	probably benign	Het
Pcdha8	T	A	18: 37,126,572 (GRCm39)	N351K	probably benign	Het
Pcdhb5	T	A	18: 37,455,732 (GRCm39)	L704*	probably null	Het
Pkd1l3	T	A	8: 110,353,468 (GRCm39)	L683H	probably damaging	Het
Plekhn1	C	T	4: 156,308,331 (GRCm39)	R288H	probably benign	Het
Polr2a	A	T	11: 69,627,086 (GRCm39)	N1457K	probably damaging	Het
Ppp1r12b	A	G	1: 134,693,719 (GRCm39)	S981P	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,648 (GRCm39)	K1062E	probably damaging	Het
Ptpre	A	T	7: 135,276,007 (GRCm39)	T498S	probably benign	Het
Pus7l	C	T	15: 94,427,332 (GRCm39)		probably null	Het
Rptn	C	T	3: 93,305,639 (GRCm39)	Q991*	probably null	Het
Rsu1	T	G	2: 13,229,170 (GRCm39)	E76A	probably damaging	Het
Septin11	T	A	5: 93,304,824 (GRCm39)	F214I	probably damaging	Het
Slc1a7	G	T	4: 107,869,587 (GRCm39)	A551S	probably benign	Het
Slc45a2	T	A	15: 11,000,941 (GRCm39)	Y13*	probably null	Het
Slit3	A	G	11: 35,598,932 (GRCm39)	E1512G	probably damaging	Het
Stat5a	A	G	11: 100,767,883 (GRCm39)	Q458R	possibly damaging	Het
Svep1	T	C	4: 58,084,906 (GRCm39)	T1811A	possibly damaging	Het
Tarbp1	A	G	8: 127,179,667 (GRCm39)	F624L	probably benign	Het
Tfeb	T	G	17: 48,070,433 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,891,126 (GRCm39)	G490R	probably damaging	Het
Tra2b	T	C	16: 22,077,953 (GRCm39)	Y32C	probably damaging	Het
Trpv4	C	T	5: 114,760,708 (GRCm39)		probably benign	Het
Uvrag	A	T	7: 98,637,414 (GRCm39)	L138*	probably null	Het
Vwf	A	T	6: 125,655,725 (GRCm39)		probably null	Het
Wdr47	G	A	3: 108,526,322 (GRCm39)	D282N	probably damaging	Het
Xirp2	A	G	2: 67,340,290 (GRCm39)	N844D	possibly damaging	Het
Xirp2	A	G	2: 67,339,042 (GRCm39)	M428V	probably benign	Het
Znfx1	G	A	2: 166,880,920 (GRCm39)	T288I	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
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'- ACAGGACAGAATTGAATTGCAC -3'
(R):5'- ACCAAACCAGTGGAGTCCATG -3'

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

Posted On

2017-02-15