Mutagenetix > Incidental Mutation

Incidental Mutation 'R8903:Slc7a14'

678287

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

068760-MU

Accession Numbers

Essential gene?

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

Stock #

R8903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31257007-31364527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31277595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 670 (L670Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103880 (fasta)

Gene Model

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

AlphaFold

Q8BXR1

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000108245
AA Change: L670Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: L670Q

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: 99.5%
20x: 98.4%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,815,526 (GRCm39)	F258S	probably damaging	Het
Abca3	A	G	17: 24,602,959 (GRCm39)	Y518C	probably damaging	Het
Ank2	A	T	3: 126,840,431 (GRCm39)	N274K	probably damaging	Het
Ankrd31	C	T	13: 96,969,329 (GRCm39)	L989F	probably damaging	Het
Ano6	A	G	15: 95,825,463 (GRCm39)	R354G	probably benign	Het
Ano8	T	C	8: 71,934,834 (GRCm39)		probably null	Het
Arfgef1	T	C	1: 10,211,838 (GRCm39)	Y1735C	probably damaging	Het
B3gnt8	G	A	7: 25,328,659 (GRCm39)	G363D	probably benign	Het
Calcrl	T	C	2: 84,203,729 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,726 (GRCm39)	D782V	unknown	Het
Ccdc162	A	G	10: 41,531,440 (GRCm39)		probably null	Het
Cdkal1	A	T	13: 29,809,918 (GRCm39)	*219R	probably null	Het
Clcnkb	A	T	4: 141,135,160 (GRCm39)	V526D	possibly damaging	Het
Cnbp	A	T	6: 87,821,074 (GRCm39)	C162S	probably damaging	Het
Coq2	A	G	5: 100,811,656 (GRCm39)		probably benign	Het
D6Wsu163e	T	A	6: 126,931,778 (GRCm39)	L270Q	probably damaging	Het
Dennd10	C	T	19: 60,823,423 (GRCm39)	Q353*	probably null	Het
Dnhd1	C	T	7: 105,362,855 (GRCm39)	Q3806*	probably null	Het
Eepd1	T	C	9: 25,394,518 (GRCm39)	F261L	probably benign	Het
Fes	C	T	7: 80,036,559 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,807,681 (GRCm39)	D1333E	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm5113	T	C	7: 29,878,292 (GRCm39)	F127L	probably benign	Het
Grk3	A	G	5: 113,066,697 (GRCm39)	S596P	possibly damaging	Het
Gsk3a	A	G	7: 24,936,814 (GRCm39)	V91A	possibly damaging	Het
Gss	T	C	2: 155,420,279 (GRCm39)	K141E	probably damaging	Het
Il1rl2	A	T	1: 40,366,530 (GRCm39)		probably null	Het
Kcnmb1	A	G	11: 33,914,825 (GRCm39)	Y42C	probably damaging	Het
Krtap16-1	A	T	11: 99,877,170 (GRCm39)	I78N	probably damaging	Het
Lrp2	C	T	2: 69,379,382 (GRCm39)	S110N	possibly damaging	Het
Lrrfip1	T	A	1: 91,012,781 (GRCm39)		probably benign	Het
Magel2	G	T	7: 62,029,441 (GRCm39)	A782S	unknown	Het
Map1b	C	A	13: 99,569,017 (GRCm39)	E1235*	probably null	Het
Mcpt1	A	C	14: 56,257,520 (GRCm39)	H222P	probably benign	Het
Met	T	A	6: 17,549,137 (GRCm39)	N996K	probably benign	Het
Mia	C	A	7: 26,880,230 (GRCm39)	Q52H	probably damaging	Het
Mia	T	A	7: 26,880,231 (GRCm39)	Q52L	possibly damaging	Het
Myh7	T	A	14: 55,230,228 (GRCm39)	K35*	probably null	Het
Myt1l	T	A	12: 29,861,468 (GRCm39)	D83E	unknown	Het
Nbl1	A	G	4: 138,810,861 (GRCm39)	V111A	probably damaging	Het
Nid1	T	A	13: 13,638,515 (GRCm39)	V145D	probably benign	Het
Nif3l1	C	T	1: 58,486,653 (GRCm39)		probably benign	Het
Npnt	T	C	3: 132,591,764 (GRCm39)	Y500C	probably damaging	Het
Nubpl	T	A	12: 52,144,676 (GRCm39)		probably null	Het
Nxpe4	T	A	9: 48,310,250 (GRCm39)	D504E	probably damaging	Het
Obsl1	A	G	1: 75,463,917 (GRCm39)	V1696A	possibly damaging	Het
Or56a3	A	T	7: 104,735,329 (GRCm39)	R135S	possibly damaging	Het
Or8s2	A	T	15: 98,276,475 (GRCm39)	I172N	probably damaging	Het
P2rx1	A	T	11: 72,900,821 (GRCm39)	H224L	probably benign	Het
Pald1	A	T	10: 61,182,815 (GRCm39)		probably null	Het
Pard6g	C	T	18: 80,160,411 (GRCm39)	R175*	probably null	Het
Pisd	A	G	5: 32,895,755 (GRCm39)	I271T	probably benign	Het
Prrt3	T	C	6: 113,472,796 (GRCm39)	S459G	probably damaging	Het
Psd3	A	T	8: 68,165,945 (GRCm39)	C328S	unknown	Het
Psme1	A	G	14: 55,817,853 (GRCm39)	E120G		Het
Pum3	A	T	19: 27,397,457 (GRCm39)	M306K	possibly damaging	Het
Pxdn	T	C	12: 30,040,992 (GRCm39)	F423L	probably benign	Het
Rac3	A	G	11: 120,614,071 (GRCm39)	D118G	probably damaging	Het
Rnf14	A	G	18: 38,446,267 (GRCm39)	K357E	probably benign	Het
Rpl23a	T	C	11: 78,073,720 (GRCm39)	I40V	probably benign	Het
Slc5a5	A	T	8: 71,345,227 (GRCm39)	S27T	probably damaging	Het
Snorc	C	T	1: 87,402,826 (GRCm39)	T52I	probably damaging	Het
Sst	T	A	16: 23,708,499 (GRCm39)	K111*	probably null	Het
Stxbp4	A	G	11: 90,426,267 (GRCm39)	S514P	unknown	Het
Susd1	T	A	4: 59,390,576 (GRCm39)	T300S	probably benign	Het
Tecpr1	C	T	5: 144,150,845 (GRCm39)		probably benign	Het
Tmem185b	C	T	1: 119,454,198 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,699 (GRCm39)	F305I	probably damaging	Het
Ttk	T	A	9: 83,750,113 (GRCm39)	D689E	probably damaging	Het
Tut4	A	T	4: 108,336,408 (GRCm39)	D44V	probably damaging	Het
Usp25	A	G	16: 76,878,421 (GRCm39)	D615G	probably damaging	Het
Vmn1r209	A	G	13: 22,990,684 (GRCm39)	V2A	probably benign	Het
Vmn2r80	A	C	10: 79,017,928 (GRCm39)	E551A	probably damaging	Het
Wac	G	T	18: 7,926,104 (GRCm39)	E636*	probably null	Het
Wdr53	T	A	16: 32,071,130 (GRCm39)	D158E	probably damaging	Het
Zbtb7c	T	C	18: 76,270,152 (GRCm39)	V80A	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
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
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'- ATTCTCACACAAGAAGAGCTTTCAG -3'
(R):5'- TGTAATCCTGCAGCAGCCAG -3'

Sequencing Primer
(F):5'- AATGGATTGATAGGCATCGTTCTTCC -3'
(R):5'- TGCAGCAGCCAGAGAAC -3'

Posted On

2021-08-02