Mutagenetix > Incidental Mutations

Incidental Mutation 'R6088:Slc1a7'

486079

Institutional Source

Beutler Lab

Gene Symbol

Slc1a7

Ensembl Gene

ENSMUSG00000008932

Gene Name

solute carrier family 1 (glutamate transporter), member 7

Synonyms

EAAT5

MMRRC Submission

044245-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107968332-108013532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108012444 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 569 (V569M)

Ref Sequence

ENSEMBL: ENSMUSP00000102324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044248] [ENSMUST00000106708] [ENSMUST00000106709] [ENSMUST00000106713] [ENSMUST00000146851]

Predicted Effect

probably benign
Transcript: ENSMUST00000044248

SMART Domains

Protein: ENSMUSP00000048962
Gene: ENSMUSG00000028600

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	40	49	N/A	INTRINSIC
LRRNT	68	101	4.34e-5	SMART
LRR_TYP	120	145	2.05e-2	SMART
LRR	146	169	1.19e1	SMART
LRR	192	216	2.84e1	SMART
LRR	239	261	6.22e0	SMART
LRR	262	287	3.47e0	SMART
LRR_TYP	288	311	7.9e-4	SMART
LRR	333	358	1.26e1	SMART
LRR	359	382	2.82e0	SMART
LRR	407	429	1.53e2	SMART
LRR_TYP	430	453	7.37e-4	SMART
LRR	475	500	1.66e1	SMART
LRR	501	522	1.29e1	SMART
LRR_TYP	523	545	7.67e-2	SMART
low complexity region	594	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106708

SMART Domains

Protein: ENSMUSP00000102319
Gene: ENSMUSG00000028600

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	40	49	N/A	INTRINSIC
LRRNT	68	101	4.34e-5	SMART
LRR_TYP	120	145	2.05e-2	SMART
LRR	146	169	1.19e1	SMART
LRR	192	216	2.84e1	SMART
LRR	239	261	6.22e0	SMART
LRR	262	287	3.47e0	SMART
LRR_TYP	288	311	7.9e-4	SMART
LRR	333	358	1.26e1	SMART
LRR	359	382	2.82e0	SMART
LRR	407	429	1.53e2	SMART
LRR_TYP	430	453	7.37e-4	SMART
LRR	475	500	1.66e1	SMART
LRR	501	522	1.29e1	SMART
LRR_TYP	523	545	7.67e-2	SMART
low complexity region	594	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106709

SMART Domains

Protein: ENSMUSP00000102320
Gene: ENSMUSG00000028600

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	40	49	N/A	INTRINSIC
LRRNT	68	101	4.34e-5	SMART
LRR_TYP	120	145	2.05e-2	SMART
LRR	146	169	1.19e1	SMART
LRR	192	216	2.84e1	SMART
LRR	239	261	6.22e0	SMART
LRR	262	287	3.47e0	SMART
LRR_TYP	288	311	7.9e-4	SMART
LRR	333	358	1.26e1	SMART
LRR	359	382	2.82e0	SMART
LRR	407	429	1.53e2	SMART
LRR_TYP	430	453	7.37e-4	SMART
LRR	475	500	1.66e1	SMART
LRR	501	522	1.29e1	SMART
LRR_TYP	523	545	7.67e-2	SMART
low complexity region	594	609	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106713
AA Change: V569M

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

SMART Domains

Protein: ENSMUSP00000102324
Gene: ENSMUSG00000008932
AA Change: V569M

Domain	Start	End	E-Value	Type
Pfam:SDF	29	485	1.9e-127	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145491

Predicted Effect

probably benign
Transcript: ENSMUST00000146851

SMART Domains

Protein: ENSMUSP00000121478
Gene: ENSMUSG00000028600

Domain	Start	End	E-Value	Type
LRR	1	24	1.19e1	SMART
LRR	47	71	2.84e1	SMART
LRR	94	116	6.22e0	SMART
LRR	117	142	3.47e0	SMART
LRR_TYP	143	166	7.9e-4	SMART
LRR	188	213	1.26e1	SMART
LRR	214	237	2.82e0	SMART
LRR	262	284	1.53e2	SMART
LRR_TYP	285	308	7.37e-4	SMART
low complexity region	319	334	N/A	INTRINSIC
low complexity region	359	364	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	T	18: 58,902,102	V360F	probably damaging	Het
Ankrd17	C	T	5: 90,253,688	E1605K	possibly damaging	Het
Arid4a	A	G	12: 71,022,236	D54G	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 128,114,642		probably benign	Het
Card6	A	T	15: 5,105,019	V234E	possibly damaging	Het
Cd1d1	G	T	3: 86,998,702	Q89K	probably benign	Het
Ciita	G	A	16: 10,511,931	R693K	probably damaging	Het
Cox7a2l	G	T	17: 83,503,972	L77I	probably benign	Het
Crybg2	A	T	4: 134,075,790		probably null	Het
Cts8	T	C	13: 61,253,966	N39S	probably benign	Het
Def8	G	T	8: 123,460,048	E456*	probably null	Het
Dld	A	G	12: 31,340,989	F153L	probably benign	Het
Elf1	C	T	14: 79,567,261	T122I	probably benign	Het
Emilin2	T	C	17: 71,255,124	N961S	probably benign	Het
Esp24	A	G	17: 39,040,010	I34V	probably benign	Het
Fam129b	T	C	2: 32,923,123	V540A	probably damaging	Het
Fam184b	C	A	5: 45,584,012	K292N	probably damaging	Het
Gabrg3	T	A	7: 56,985,078	N119I	probably damaging	Het
Gucy1b1	T	C	3: 82,034,880	H524R	probably damaging	Het
Kcp	A	T	6: 29,502,632	S205T	probably benign	Het
Klb	C	T	5: 65,349,013	T201M	probably benign	Het
Lamp3	A	T	16: 19,673,398	F365L	probably damaging	Het
Mad1l1	T	A	5: 140,193,963	H390L	probably benign	Het
Mlxipl	T	C	5: 135,134,030	Y711H	possibly damaging	Het
Myo5b	T	A	18: 74,720,898	L1196Q	possibly damaging	Het
Ndufb8	A	G	19: 44,555,025	S70P	probably benign	Het
Neb	T	C	2: 52,209,342	D4832G	probably damaging	Het
Nr5a1	T	C	2: 38,701,995	D322G	probably benign	Het
Olfr396-ps1	A	T	11: 73,928,823	T273S	probably benign	Het
Olfr988	T	A	2: 85,353,354	S191C	probably damaging	Het
Oscar	G	A	7: 3,611,312	P143S	probably benign	Het
Oxa1l	T	A	14: 54,367,694		probably null	Het
Pafah2	A	G	4: 134,413,381	I221V	probably benign	Het
Pibf1	T	A	14: 99,179,358	F456I	probably benign	Het
Pla2g4d	C	T	2: 120,270,006	G615D	probably damaging	Het
Plekhg2	C	T	7: 28,361,013	V964I	probably benign	Het
Ppip5k1	C	A	2: 121,337,463	V770L	probably benign	Het
Ppl	A	T	16: 5,104,988	L213Q	possibly damaging	Het
Ptprf	G	A	4: 118,210,755	T1785I	possibly damaging	Het
Pycr2	G	A	1: 180,906,236	G131E	probably damaging	Het
Rbpj	C	T	5: 53,651,368		probably null	Het
Rcc1	G	T	4: 132,332,842	D430E	probably benign	Het
Rhbdf1	A	G	11: 32,212,007	V525A	possibly damaging	Het
Samd7	G	A	3: 30,756,483	M216I	probably benign	Het
Ska3	A	T	14: 57,816,694	D266E	probably benign	Het
Slc26a1	C	T	5: 108,674,006	E6K	possibly damaging	Het
Slc4a4	T	A	5: 89,197,704	V741E	probably benign	Het
St6galnac3	C	T	3: 153,206,715	G164S	probably damaging	Het
Tgs1	T	A	4: 3,595,383	N517K	probably benign	Het
Tns4	A	G	11: 99,073,720	S522P	probably damaging	Het
Trpm1	A	T	7: 64,267,976	M355L	probably damaging	Het
Trpm8	G	A	1: 88,306,678		probably benign	Het
Uhrf1bp1	G	A	17: 27,884,605		probably null	Het
V1ra8	T	C	6: 90,203,100	F95S	probably damaging	Het
Zfp521	A	C	18: 13,846,109	S416A	possibly damaging	Het
Zfp574	T	A	7: 25,080,339	V262E	probably benign	Het
Zfp740	T	A	15: 102,208,808	I77N	probably damaging	Het
Zscan18	A	T	7: 12,775,198		probably benign	Het

Other mutations in Slc1a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Slc1a7	APN	4	107992965	missense	probably damaging	1.00
IGL02643:Slc1a7	APN	4	108012300	missense	possibly damaging	0.86
IGL03146:Slc1a7	APN	4	107992992	missense	probably damaging	0.98
R1023:Slc1a7	UTSW	4	108007573	missense	probably damaging	1.00
R1629:Slc1a7	UTSW	4	108008143	missense	probably damaging	1.00
R1869:Slc1a7	UTSW	4	108008364	missense	probably damaging	1.00
R1957:Slc1a7	UTSW	4	107968585	missense	probably benign	0.05
R1970:Slc1a7	UTSW	4	107968585	missense	probably benign	0.05
R1971:Slc1a7	UTSW	4	107968585	missense	probably benign	0.05
R2058:Slc1a7	UTSW	4	108004439	missense	probably benign	0.41
R2201:Slc1a7	UTSW	4	107993006	missense	probably damaging	1.00
R2212:Slc1a7	UTSW	4	108010994	missense	probably benign	0.02
R3412:Slc1a7	UTSW	4	108010994	missense	probably benign	0.02
R3413:Slc1a7	UTSW	4	108010994	missense	probably benign	0.02
R3414:Slc1a7	UTSW	4	108010994	missense	probably benign	0.02
R3734:Slc1a7	UTSW	4	107977644	missense	probably damaging	1.00
R4109:Slc1a7	UTSW	4	107968661	missense	probably benign	0.22
R4662:Slc1a7	UTSW	4	108007554	missense	probably damaging	1.00
R4676:Slc1a7	UTSW	4	107977674	missense	possibly damaging	0.95
R4801:Slc1a7	UTSW	4	107993040	missense	probably damaging	1.00
R4802:Slc1a7	UTSW	4	107993040	missense	probably damaging	1.00
R4935:Slc1a7	UTSW	4	108007561	missense	probably damaging	1.00
R5896:Slc1a7	UTSW	4	108012390	missense	probably benign	0.02
R5947:Slc1a7	UTSW	4	108010300	unclassified	probably benign
R6056:Slc1a7	UTSW	4	108012261	missense	probably benign	0.00
R6134:Slc1a7	UTSW	4	108012436	missense	probably damaging	1.00
R6141:Slc1a7	UTSW	4	108002182	missense	possibly damaging	0.50
R7378:Slc1a7	UTSW	4	108002203	missense	possibly damaging	0.50
R7587:Slc1a7	UTSW	4	108010486	missense	possibly damaging	0.93
R7974:Slc1a7	UTSW	4	108012276	missense	probably benign	0.00
R7975:Slc1a7	UTSW	4	108012276	missense	probably benign	0.00
R8002:Slc1a7	UTSW	4	108012276	missense	probably benign	0.00
R8003:Slc1a7	UTSW	4	108012276	missense	probably benign	0.00
R8022:Slc1a7	UTSW	4	108012276	missense	probably benign	0.00
R8023:Slc1a7	UTSW	4	108012276	missense	probably benign	0.00
R8075:Slc1a7	UTSW	4	108012276	missense	probably benign	0.00
R8142:Slc1a7	UTSW	4	108012276	missense	probably benign	0.00
R8145:Slc1a7	UTSW	4	108012276	missense	probably benign	0.00
R8205:Slc1a7	UTSW	4	108008311	missense	probably benign	0.12
R8257:Slc1a7	UTSW	4	108008197	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCTACCCTGTGAGACCAAG -3'
(R):5'- AGAGCCATAGTTGCTGATGG -3'

Sequencing Primer
(F):5'- CCAGTGACACTGCAGGAGATC -3'
(R):5'- CTGATGGGTCTCTGCACATAG -3'

Posted On

2017-08-16