Mutagenetix > Incidental Mutation

Incidental Mutation 'R1591:Slc7a14'

175465

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

039628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R1591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31202858-31310378 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31237449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 227 (F227V)

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: F227V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: F227V

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: F227V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: F227V

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

Meta Mutation Damage Score

0.1170

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

100% (80/80)

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
Abraxas1	G	T	5: 100,809,639 (GRCm38)	Q201K	probably benign	Het
Acacb	A	T	5: 114,203,423 (GRCm38)	I829F	possibly damaging	Het
Acvr1b	G	T	15: 101,194,024 (GRCm38)	V62L	probably benign	Het
Adam6b	A	T	12: 113,489,832 (GRCm38)	I90F	probably benign	Het
Adgrf1	T	C	17: 43,310,981 (GRCm38)	L703P	probably damaging	Het
Arf3	T	C	15: 98,742,788 (GRCm38)		probably benign	Het
Asns	T	C	6: 7,678,007 (GRCm38)	D357G	probably damaging	Het
Atr	T	C	9: 95,945,385 (GRCm38)	M2461T	probably damaging	Het
B3galt4	G	A	17: 33,950,839 (GRCm38)	R142C	probably damaging	Het
Bod1l	T	C	5: 41,819,220 (GRCm38)	I1584V	probably benign	Het
Bub3	T	C	7: 131,561,608 (GRCm38)		probably null	Het
Camkk2	A	G	5: 122,757,558 (GRCm38)		probably null	Het
Cand1	G	T	10: 119,211,869 (GRCm38)	T572K	possibly damaging	Het
Caprin2	A	T	6: 148,873,108 (GRCm38)	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,636,342 (GRCm38)	T452A	probably benign	Het
Cdh4	T	C	2: 179,886,864 (GRCm38)		probably null	Het
Cfap61	A	G	2: 146,145,458 (GRCm38)	R1060G	probably benign	Het
Chd9	A	G	8: 90,983,538 (GRCm38)	D314G	probably damaging	Het
Csmd1	T	A	8: 15,900,710 (GRCm38)	I3500F	probably damaging	Het
Dnah1	G	T	14: 31,272,332 (GRCm38)	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,076,600 (GRCm38)	E2884K	probably benign	Het
Ecm1	G	A	3: 95,735,963 (GRCm38)	R342C	probably damaging	Het
Exosc10	T	A	4: 148,568,383 (GRCm38)	I485N	probably benign	Het
Fap	T	C	2: 62,553,857 (GRCm38)	K2E	probably damaging	Het
Fgfr1	G	A	8: 25,572,720 (GRCm38)	G671D	probably damaging	Het
Fzr1	C	T	10: 81,370,367 (GRCm38)	R162Q	possibly damaging	Het
Gm17727	T	C	9: 35,776,656 (GRCm38)	D96G	probably damaging	Het
Grap2	A	T	15: 80,648,448 (GRCm38)	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200 (GRCm38)	W246R	probably damaging	Het
Kcna3	A	T	3: 107,037,029 (GRCm38)	I203F	probably damaging	Het
Kcng1	T	C	2: 168,268,710 (GRCm38)	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,789,231 (GRCm38)	H798P	probably benign	Het
Kif21b	T	C	1: 136,149,317 (GRCm38)	L359P	probably damaging	Het
Krt6a	A	T	15: 101,692,357 (GRCm38)		probably null	Het
Lman1l	C	T	9: 57,615,802 (GRCm38)	V125I	probably benign	Het
Lrp1	C	T	10: 127,605,606 (GRCm38)	S216N	probably benign	Het
Lrp3	A	G	7: 35,202,365 (GRCm38)	V676A	probably benign	Het
Lrrc63	T	A	14: 75,125,892 (GRCm38)	K266N	possibly damaging	Het
Mccc1	C	T	3: 35,989,857 (GRCm38)	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092 (GRCm38)	V1395A	possibly damaging	Het
Mmrn1	A	T	6: 60,944,771 (GRCm38)	R71*	probably null	Het
Mrps2	C	T	2: 28,469,488 (GRCm38)	A119V	probably benign	Het
Ogdh	T	C	11: 6,349,384 (GRCm38)	F750S	probably damaging	Het
Olfr147	A	G	9: 38,402,936 (GRCm38)	T18A	probably damaging	Het
Olfr356	C	A	2: 36,937,978 (GRCm38)	N286K	probably damaging	Het
Olfr484	T	A	7: 108,124,364 (GRCm38)	I300F	possibly damaging	Het
Olfr612	T	G	7: 103,539,067 (GRCm38)	T56P	probably benign	Het
Olfr901	A	T	9: 38,430,411 (GRCm38)	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,209,983 (GRCm38)	I194L	probably benign	Het
Pacsin2	T	C	15: 83,385,051 (GRCm38)	E14G	probably damaging	Het
Pcdh7	A	G	5: 57,720,422 (GRCm38)	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,485,825 (GRCm38)	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,748,178 (GRCm38)	R109K	probably benign	Het
Ppp2ca	T	C	11: 52,099,089 (GRCm38)	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,211,504 (GRCm38)	T102S	probably damaging	Het
Rsf1	T	A	7: 97,639,313 (GRCm38)	C132*	probably null	Het
Rufy1	G	A	11: 50,394,928 (GRCm38)	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,424,711 (GRCm38)	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,254,993 (GRCm38)	E172G	probably damaging	Het
Skint5	C	T	4: 113,999,454 (GRCm38)		probably null	Het
Slc25a27	A	G	17: 43,653,424 (GRCm38)	I185T	probably benign	Het
Slc41a3	A	C	6: 90,633,695 (GRCm38)	K180Q	probably benign	Het
Smg1	T	C	7: 118,156,919 (GRCm38)		probably benign	Het
St6galnac1	A	T	11: 116,765,863 (GRCm38)	D483E	probably damaging	Het
Tes	A	G	6: 17,097,442 (GRCm38)	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471 (GRCm38)	D290Y	probably damaging	Het
Tifab	T	A	13: 56,176,351 (GRCm38)	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,940,889 (GRCm38)		probably null	Het
Tnfrsf21	T	A	17: 43,085,374 (GRCm38)	S516R	probably benign	Het
Ttn	T	C	2: 76,776,045 (GRCm38)	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747 (GRCm38)	S3692T	probably damaging	Het
Vwa8	C	T	14: 78,908,230 (GRCm38)	R116C	probably damaging	Het
Zfp113	T	C	5: 138,151,197 (GRCm38)		probably benign	Het
Zfp26	T	C	9: 20,437,625 (GRCm38)	T548A	probably benign	Het
Zfp870	C	T	17: 32,884,016 (GRCm38)	G114D	probably damaging	Het

Other mutations in Slc7a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02631:Slc7a14	APN	3	31,238,678 (GRCm38)	missense	probably damaging	1.00
IGL02713:Slc7a14	APN	3	31,257,763 (GRCm38)	missense	probably damaging	0.96
IGL03341:Slc7a14	APN	3	31,238,770 (GRCm38)	missense	probably damaging	1.00
IGL03350:Slc7a14	APN	3	31,237,409 (GRCm38)	missense	probably benign	0.35
IGL03379:Slc7a14	APN	3	31,223,515 (GRCm38)	missense	probably damaging	1.00
R0064:Slc7a14	UTSW	3	31,227,060 (GRCm38)	missense	probably damaging	1.00
R1549:Slc7a14	UTSW	3	31,224,118 (GRCm38)	missense	possibly damaging	0.94
R2054:Slc7a14	UTSW	3	31,237,362 (GRCm38)	splice site	probably benign
R2057:Slc7a14	UTSW	3	31,237,496 (GRCm38)	missense	probably damaging	1.00
R2442:Slc7a14	UTSW	3	31,230,320 (GRCm38)	missense	probably damaging	1.00
R2504:Slc7a14	UTSW	3	31,237,501 (GRCm38)	missense	possibly damaging	0.85
R3848:Slc7a14	UTSW	3	31,237,474 (GRCm38)	missense	probably damaging	1.00
R4653:Slc7a14	UTSW	3	31,257,682 (GRCm38)	missense	probably damaging	1.00
R4702:Slc7a14	UTSW	3	31,230,398 (GRCm38)	missense	probably damaging	1.00
R5043:Slc7a14	UTSW	3	31,237,466 (GRCm38)	missense	probably damaging	1.00
R5187:Slc7a14	UTSW	3	31,237,365 (GRCm38)	splice site	probably null
R5345:Slc7a14	UTSW	3	31,223,857 (GRCm38)	missense	probably damaging	0.99
R5393:Slc7a14	UTSW	3	31,257,770 (GRCm38)	missense	probably damaging	1.00
R5421:Slc7a14	UTSW	3	31,224,197 (GRCm38)	missense	probably damaging	1.00
R5736:Slc7a14	UTSW	3	31,223,910 (GRCm38)	missense	probably benign	0.00
R5771:Slc7a14	UTSW	3	31,238,707 (GRCm38)	missense	probably damaging	1.00
R5896:Slc7a14	UTSW	3	31,257,570 (GRCm38)	missense	probably damaging	1.00
R5996:Slc7a14	UTSW	3	31,209,236 (GRCm38)	missense	probably benign
R6020:Slc7a14	UTSW	3	31,224,112 (GRCm38)	missense	probably benign
R6107:Slc7a14	UTSW	3	31,257,610 (GRCm38)	missense	probably damaging	1.00
R6140:Slc7a14	UTSW	3	31,237,548 (GRCm38)	missense	probably benign
R6491:Slc7a14	UTSW	3	31,223,944 (GRCm38)	missense	probably damaging	1.00
R6846:Slc7a14	UTSW	3	31,224,223 (GRCm38)	missense	probably damaging	1.00
R6990:Slc7a14	UTSW	3	31,223,579 (GRCm38)	missense	possibly damaging	0.90
R7184:Slc7a14	UTSW	3	31,227,063 (GRCm38)	missense	probably damaging	0.98
R7271:Slc7a14	UTSW	3	31,224,235 (GRCm38)	missense	probably damaging	1.00
R7282:Slc7a14	UTSW	3	31,227,153 (GRCm38)	missense	possibly damaging	0.67
R7331:Slc7a14	UTSW	3	31,257,731 (GRCm38)	missense	probably benign	0.00
R8227:Slc7a14	UTSW	3	31,209,212 (GRCm38)	missense	probably benign	0.00
R8238:Slc7a14	UTSW	3	31,227,151 (GRCm38)	missense	probably benign	0.01
R8524:Slc7a14	UTSW	3	31,224,133 (GRCm38)	missense	possibly damaging	0.70
R8843:Slc7a14	UTSW	3	31,257,610 (GRCm38)	missense	probably damaging	1.00
R8903:Slc7a14	UTSW	3	31,223,446 (GRCm38)	missense	probably damaging	0.98
R9011:Slc7a14	UTSW	3	31,224,196 (GRCm38)	missense	probably damaging	1.00
R9208:Slc7a14	UTSW	3	31,227,210 (GRCm38)	missense	probably damaging	1.00
R9633:Slc7a14	UTSW	3	31,224,017 (GRCm38)	missense	probably benign	0.31
Z1088:Slc7a14	UTSW	3	31,223,999 (GRCm38)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GTTCAGCATCGAAACACGTCTTCAG -3'
(R):5'- ACTCTAAGGGTCATAACAGCCCAGG -3'

Sequencing Primer
(F):5'- CGTCTTCAGAACATGCCAATTAG -3'
(R):5'- TAACAGCCCAGGTGCGAAG -3'

Posted On

2014-04-24