Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Slc1a7'

587198

Institutional Source

Beutler Lab

Gene Symbol

Slc1a7

Ensembl Gene

ENSMUSG00000008932

Gene Name

solute carrier family 1 (glutamate transporter), member 7

Synonyms

EAAT5, A930031E15Rik

MMRRC Submission

045712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107825603-107870726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107867683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 457 (I457K)

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

possibly damaging
Transcript: ENSMUST00000106713
AA Change: I457K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102324
Gene: ENSMUSG00000008932
AA Change: I457K

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,585,736 (GRCm39)	T131A	probably damaging	Het
Asah1	A	T	8: 41,827,578 (GRCm39)	V15D	probably benign	Het
Asic1	A	C	15: 99,593,471 (GRCm39)	Q276P	probably damaging	Het
Atl2	A	T	17: 80,172,496 (GRCm39)	V158E	probably benign	Het
Atrn	T	A	2: 130,822,034 (GRCm39)	I909N	probably damaging	Het
BC034090	A	G	1: 155,093,232 (GRCm39)	V742A	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,869,004 (GRCm39)	F165S	probably damaging	Het
Cfap44	A	G	16: 44,224,469 (GRCm39)	E59G	probably benign	Het
Clpsl2	G	A	17: 28,768,515 (GRCm39)	V10I	probably benign	Het
D630003M21Rik	T	A	2: 158,042,976 (GRCm39)	S855C	probably damaging	Het
D630003M21Rik	T	C	2: 158,038,308 (GRCm39)	Y1046C	probably benign	Het
D6Wsu163e	A	G	6: 126,932,859 (GRCm39)	I361V	probably benign	Het
Dchs2	A	G	3: 83,211,822 (GRCm39)	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,460,069 (GRCm39)	K679Q	probably damaging	Het
Dio2	A	G	12: 90,696,334 (GRCm39)	V218A	probably benign	Het
Gpr107	A	T	2: 31,058,838 (GRCm39)	K109N	probably benign	Het
Gpr108	C	T	17: 57,543,732 (GRCm39)	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,681,288 (GRCm39)	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,512,065 (GRCm39)	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,930,080 (GRCm39)		probably null	Het
Lipc	A	G	9: 70,726,206 (GRCm39)	Y168H	probably damaging	Het
Lipi	C	T	16: 75,347,103 (GRCm39)	V439M	probably benign	Het
Lpp	A	T	16: 24,581,029 (GRCm39)		probably null	Het
Lrp1b	T	G	2: 40,620,729 (GRCm39)	D3583A		Het
Ltbr	T	C	6: 125,289,315 (GRCm39)	T165A	probably benign	Het
Mroh3	A	G	1: 136,118,736 (GRCm39)	I527T	probably benign	Het
Mylk	A	G	16: 34,742,887 (GRCm39)	E1133G	probably benign	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Ncbp3	T	C	11: 72,957,591 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,534,592 (GRCm39)	T306M	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nox4	A	G	7: 86,966,510 (GRCm39)	H207R	probably damaging	Het
Nsun6	T	C	2: 15,044,636 (GRCm39)	Q110R	probably benign	Het
Or1e1b-ps1	C	T	11: 73,846,010 (GRCm39)	Q165*	probably null	Het
Or52n2c	C	T	7: 104,574,263 (GRCm39)	R236H	probably benign	Het
Or7g32	T	A	9: 19,408,818 (GRCm39)	V258E	probably damaging	Het
Pappa2	T	C	1: 158,678,701 (GRCm39)	D905G	probably damaging	Het
Pepd	T	C	7: 34,668,965 (GRCm39)	L195S	probably damaging	Het
Pms1	A	G	1: 53,246,475 (GRCm39)	S355P	probably benign	Het
Pop1	A	T	15: 34,502,559 (GRCm39)	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,766 (GRCm39)	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Pramel57	A	G	5: 95,669,270 (GRCm39)	T100A	probably damaging	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Rfc3	A	T	5: 151,574,616 (GRCm39)	M1K	probably null	Het
Rffl	T	C	11: 82,700,974 (GRCm39)	D284G	probably damaging	Het
Robo3	T	C	9: 37,340,942 (GRCm39)	D110G	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Smco1	A	G	16: 32,092,541 (GRCm39)	M71V	probably benign	Het
Snrnp200	G	A	2: 127,069,822 (GRCm39)	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,305 (GRCm39)	I356F	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Tada2b	T	C	5: 36,634,111 (GRCm39)	I156V	probably benign	Het
Tasor2	T	C	13: 3,618,849 (GRCm39)	K2251E	possibly damaging	Het
Tbce	C	T	13: 14,194,327 (GRCm39)	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,532,155 (GRCm39)	L92P	probably damaging	Het
Tnr	T	A	1: 159,713,778 (GRCm39)	D735E	probably benign	Het
Tram1	T	C	1: 13,649,771 (GRCm39)	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Unc5b	C	T	10: 60,618,899 (GRCm39)	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,681,153 (GRCm39)	T1041M	probably benign	Het

Other mutations in Slc1a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Slc1a7	APN	4	107,850,162 (GRCm39)	missense	probably damaging	1.00
IGL02643:Slc1a7	APN	4	107,869,497 (GRCm39)	missense	possibly damaging	0.86
IGL03146:Slc1a7	APN	4	107,850,189 (GRCm39)	missense	probably damaging	0.98
R1023:Slc1a7	UTSW	4	107,864,770 (GRCm39)	missense	probably damaging	1.00
R1629:Slc1a7	UTSW	4	107,865,340 (GRCm39)	missense	probably damaging	1.00
R1869:Slc1a7	UTSW	4	107,865,561 (GRCm39)	missense	probably damaging	1.00
R1957:Slc1a7	UTSW	4	107,825,782 (GRCm39)	missense	probably benign	0.05
R1970:Slc1a7	UTSW	4	107,825,782 (GRCm39)	missense	probably benign	0.05
R1971:Slc1a7	UTSW	4	107,825,782 (GRCm39)	missense	probably benign	0.05
R2058:Slc1a7	UTSW	4	107,861,636 (GRCm39)	missense	probably benign	0.41
R2201:Slc1a7	UTSW	4	107,850,203 (GRCm39)	missense	probably damaging	1.00
R2212:Slc1a7	UTSW	4	107,868,191 (GRCm39)	missense	probably benign	0.02
R3412:Slc1a7	UTSW	4	107,868,191 (GRCm39)	missense	probably benign	0.02
R3413:Slc1a7	UTSW	4	107,868,191 (GRCm39)	missense	probably benign	0.02
R3414:Slc1a7	UTSW	4	107,868,191 (GRCm39)	missense	probably benign	0.02
R3734:Slc1a7	UTSW	4	107,834,841 (GRCm39)	missense	probably damaging	1.00
R4109:Slc1a7	UTSW	4	107,825,858 (GRCm39)	missense	probably benign	0.22
R4662:Slc1a7	UTSW	4	107,864,751 (GRCm39)	missense	probably damaging	1.00
R4676:Slc1a7	UTSW	4	107,834,871 (GRCm39)	missense	possibly damaging	0.95
R4801:Slc1a7	UTSW	4	107,850,237 (GRCm39)	missense	probably damaging	1.00
R4802:Slc1a7	UTSW	4	107,850,237 (GRCm39)	missense	probably damaging	1.00
R4935:Slc1a7	UTSW	4	107,864,758 (GRCm39)	missense	probably damaging	1.00
R5896:Slc1a7	UTSW	4	107,869,587 (GRCm39)	missense	probably benign	0.02
R5947:Slc1a7	UTSW	4	107,867,497 (GRCm39)	unclassified	probably benign
R6056:Slc1a7	UTSW	4	107,869,458 (GRCm39)	missense	probably benign	0.00
R6088:Slc1a7	UTSW	4	107,869,641 (GRCm39)	missense	probably damaging	1.00
R6134:Slc1a7	UTSW	4	107,869,633 (GRCm39)	missense	probably damaging	1.00
R6141:Slc1a7	UTSW	4	107,859,379 (GRCm39)	missense	possibly damaging	0.50
R7378:Slc1a7	UTSW	4	107,859,400 (GRCm39)	missense	possibly damaging	0.50
R7974:Slc1a7	UTSW	4	107,869,473 (GRCm39)	missense	probably benign	0.00
R7975:Slc1a7	UTSW	4	107,869,473 (GRCm39)	missense	probably benign	0.00
R8002:Slc1a7	UTSW	4	107,869,473 (GRCm39)	missense	probably benign	0.00
R8003:Slc1a7	UTSW	4	107,869,473 (GRCm39)	missense	probably benign	0.00
R8022:Slc1a7	UTSW	4	107,869,473 (GRCm39)	missense	probably benign	0.00
R8023:Slc1a7	UTSW	4	107,869,473 (GRCm39)	missense	probably benign	0.00
R8075:Slc1a7	UTSW	4	107,869,473 (GRCm39)	missense	probably benign	0.00
R8142:Slc1a7	UTSW	4	107,869,473 (GRCm39)	missense	probably benign	0.00
R8145:Slc1a7	UTSW	4	107,869,473 (GRCm39)	missense	probably benign	0.00
R8205:Slc1a7	UTSW	4	107,865,508 (GRCm39)	missense	probably benign	0.12
R8257:Slc1a7	UTSW	4	107,865,394 (GRCm39)	missense	possibly damaging	0.95
R9339:Slc1a7	UTSW	4	107,850,237 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGATATCACGACAGAGCC -3'
(R):5'- AGAAGGCTCCATCTTCACTTTTG -3'

Sequencing Primer
(F):5'- AGCATCCTGGTCTCCTTGAAG -3'
(R):5'- CACTTTTGAATTCTGGGACACC -3'

Posted On

2019-10-24