Mutagenetix > Incidental Mutation

Incidental Mutation 'R7974:Slc1a7'

650766

Institutional Source

Beutler Lab

Gene Symbol

Slc1a7

Ensembl Gene

ENSMUSG00000008932

Gene Name

solute carrier family 1 (glutamate transporter), member 7

Synonyms

EAAT5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7974 (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 108012276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 513 (V513M)

Ref Sequence

ENSEMBL: ENSMUSP00000102324 (fasta)

Gene Model

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

AlphaFold

Q8JZR4

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 benign
Transcript: ENSMUST00000106713
AA Change: V513M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102324
Gene: ENSMUSG00000008932
AA Change: V513M

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

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

0.0621

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,044,973		probably null	Het
Adamts19	A	T	18: 59,011,022	Q892L	possibly damaging	Het
Adamts9	A	G	6: 92,909,687		probably null	Het
Aftph	T	C	11: 20,698,233	*686W	probably null	Het
AI661453	T	C	17: 47,466,081	L244P	unknown	Het
Ankar	C	A	1: 72,698,979	E15*	probably null	Het
Ankrd39	A	G	1: 36,546,918		probably benign	Het
Arsi	A	G	18: 60,912,406	D56G	probably damaging	Het
Blmh	T	C	11: 76,965,903	I245T	possibly damaging	Het
Ccr6	T	C	17: 8,256,224	F87S	probably damaging	Het
Cdc42ep2	T	C	19: 5,918,495	K61E	probably damaging	Het
Celsr1	C	T	15: 86,031,030	G914D	probably damaging	Het
Cep126	T	A	9: 8,120,763	K86N	probably benign	Het
Cfap70	A	T	14: 20,420,750	F532I	probably damaging	Het
Cpsf3	T	A	12: 21,308,005	L506Q	probably damaging	Het
Dct	A	C	14: 118,039,655	I273S	probably damaging	Het
Dsel	T	C	1: 111,860,499	I769V	probably benign	Het
Dus2	G	A	8: 106,036,020	E138K	probably benign	Het
Emsy	A	G	7: 98,630,218	S305P	possibly damaging	Het
Erp27	A	T	6: 136,908,065	V245D	probably damaging	Het
Fez1	C	A	9: 36,843,948	T81K	probably damaging	Het
Gli3	A	C	13: 15,726,256	Q1409H	probably benign	Het
Gm10696	T	C	3: 94,175,541	K321R	probably benign	Het
Hdac9	T	C	12: 34,303,220	S664G	possibly damaging	Het
Hibadh	A	G	6: 52,557,895	S167P	probably benign	Het
Hsdl1	A	G	8: 119,566,333	V121A	probably benign	Het
Ighv1-18	A	C	12: 114,683,049	I6S	possibly damaging	Het
Iqcm	T	A	8: 75,554,892	M1K	probably null	Het
Itch	T	C	2: 155,192,159	F417S	probably damaging	Het
Itpr1	C	T	6: 108,523,405	T2653I	possibly damaging	Het
Kank1	T	G	19: 25,424,220	Y1064D	probably damaging	Het
Kmt2c	T	C	5: 25,300,563	Q3249R	probably damaging	Het
Lefty1	T	C	1: 180,937,820	C318R	probably damaging	Het
Lmbr1l	C	T	15: 98,911,619	V147I	probably benign	Het
Meig1	C	A	2: 3,411,874	E37*	probably null	Het
Mpp3	A	G	11: 102,008,354		probably null	Het
Muc3	T	C	5: 137,146,816	N2S		Het
Mup7	T	C	4: 60,067,518	E199G	possibly damaging	Het
Nol4	G	C	18: 22,719,025	Y275*	probably null	Het
Nrxn1	G	A	17: 90,700,779	P429S	probably damaging	Het
Olfr761	T	C	17: 37,952,781	Y81C	probably damaging	Het
Pfkl	A	T	10: 77,994,162	F367L	probably damaging	Het
Pik3cg	T	C	12: 32,204,032	E652G	probably benign	Het
Prkag3	A	G	1: 74,744,821	I301T	probably benign	Het
Rcn1	G	A	2: 105,393,710	P163L	probably benign	Het
Slc37a2	A	T	9: 37,239,125		probably null	Het
Slc9b1	C	T	3: 135,394,030	T437I	possibly damaging	Het
Smap1	T	G	1: 23,849,441	T248P	probably benign	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Spata20	T	C	11: 94,484,140	N212S	possibly damaging	Het
Sphkap	A	C	1: 83,278,962	C355W	probably damaging	Het
Spsb1	T	A	4: 149,907,109	M1L	probably damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stxbp5	A	C	10: 9,770,695		probably null	Het
Taar5	G	C	10: 23,971,222	D173H	possibly damaging	Het
Tfrc	A	G	16: 32,621,283	D438G	probably null	Het
Tinag	A	T	9: 76,999,849	I368K	probably benign	Het
Tm9sf1	A	G	14: 55,636,449	W531R	probably damaging	Het
Tnc	G	T	4: 64,000,724	P1154Q	possibly damaging	Het
Toporsl	A	G	4: 52,611,645	R513G	probably damaging	Het
Ttc30a1	T	C	2: 75,980,344	H465R	probably damaging	Het
Vat1	A	G	11: 101,466,130	S2P	probably benign	Het
Vmn2r107	C	G	17: 20,357,008	P423A	probably benign	Het
Vmn2r2	T	A	3: 64,117,387	E591V	probably damaging	Het
Vmn2r62	G	A	7: 42,764,607	T804I	probably damaging	Het
Vmn2r62	T	A	7: 42,787,857	Y401F	probably damaging	Het
Vmn2r89	A	T	14: 51,456,002	I270F	probably damaging	Het
Zfp418	T	C	7: 7,182,168	F377L	possibly damaging	Het
Zkscan5	T	C	5: 145,207,692	S182P	unknown	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
R6088:Slc1a7	UTSW	4	108012444	missense	probably damaging	1.00
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
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
R9339:Slc1a7	UTSW	4	107993040	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTAAGGGACAGAGATCATATAATCTG -3'
(R):5'- ACGTTGGTCTCTAGCTCACTG -3'

Sequencing Primer
(F):5'- AGATCATATAATCTGTTCTAGGTGGG -3'
(R):5'- GATCTCAATAGTACAGTGGTCTAGGC -3'

Posted On

2020-09-15