Mutagenetix > Incidental Mutations

Incidental Mutation 'R3413:Slc1a7'

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267795

Institutional Source

Beutler Lab

Gene Symbol

Slc1a7

Ensembl Gene

ENSMUSG00000008932

Gene Name

solute carrier family 1 (glutamate transporter), member 7

Synonyms

EAAT5

MMRRC Submission

040631-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R3413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107968332-108013532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108010994 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 497 (E497G)

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 benign
Transcript: ENSMUST00000106713
AA Change: E497G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102324
Gene: ENSMUSG00000008932
AA Change: E497G

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

0.0758

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,987,387		probably benign	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Axin1	A	G	17: 26,188,038	H535R	probably damaging	Het
Ccnb3	T	A	X: 7,007,801	E846D	probably benign	Het
Cdca7	G	A	2: 72,485,287	G365R	probably damaging	Het
Clvs2	T	A	10: 33,622,971		probably benign	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Ddx42	A	G	11: 106,247,810	T812A	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
Got1l1	A	G	8: 27,199,836		probably null	Het
Hip1	T	C	5: 135,422,172	E451G	probably damaging	Het
Hs6st2	C	T	X: 51,681,455	V50I	possibly damaging	Het
Ighv1-23	C	T	12: 114,764,467	V112I	probably benign	Het
Map1s	A	G	8: 70,912,519	N107D	probably damaging	Het
Mmel1	T	A	4: 154,889,586	V361D	probably damaging	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nup210	G	T	6: 91,025,242	Q755K	probably benign	Het
Olfr114	A	G	17: 37,589,696	V219A	probably benign	Het
Olfr638	A	G	7: 104,003,832	M186V	probably damaging	Het
Pih1h3b	T	A	X: 140,106,021	N216K	possibly damaging	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Sspo	C	T	6: 48,480,697	R3178C	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syk	A	G	13: 52,631,739	D327G	probably benign	Het
Tbc1d8b	C	T	X: 139,713,391	A391V	probably benign	Het
Tmed9	A	G	13: 55,595,574	E173G	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Zfp92	C	T	X: 73,420,294		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	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
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
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'- TGAGTGTGGCTCTCTACCAG -3'
(R):5'- AACATCTGGACCTCTGCAGC -3'

Sequencing Primer
(F):5'- AGTTCCCCACTGAGGTTGCTG -3'
(R):5'- TTGTGGTGACCCCCAACCATAG -3'

Posted On

2015-02-18