Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Slc1a7'

239440

Institutional Source

Beutler Lab

Gene Symbol

Slc1a7

Ensembl Gene

ENSMUSG00000008932

Gene Name

solute carrier family 1 (glutamate transporter), member 7

Synonyms

EAAT5

MMRRC Submission

040214-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not 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: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	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
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	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
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

Predicted Primers

PCR Primer
(F):5'- TTGAGTGTGGCTCTCTACCAG -3'
(R):5'- AACATCTGGACCTCTGCAGC -3'

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

Posted On

2014-10-15