Mutagenetix > Incidental Mutation

Incidental Mutation 'R6339:Slc1a6'

513834

Institutional Source

Beutler Lab

Gene Symbol

Slc1a6

Ensembl Gene

ENSMUSG00000005357

Gene Name

solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6

Synonyms

EAAT4

MMRRC Submission

044493-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78616330-78650599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78635919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 328 (D328A)

Ref Sequence

ENSEMBL: ENSMUSP00000005490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005490]

AlphaFold

O35544

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005490
AA Change: D328A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: D328A

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
Pfam:SDF	55	519	8.5e-129	PFAM

Meta Mutation Damage Score

0.7716

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

97% (69/71)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene survive well and display no obvious abnormalities of behavior or brain structure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933424G06Rik	A	T	1: 36,749,542 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,310,091 (GRCm39)	S743R	probably damaging	Het
Ak8	A	G	2: 28,624,460 (GRCm39)		probably null	Het
Alpk2	A	G	18: 65,482,877 (GRCm39)	M377T	probably benign	Het
Ap1g1	G	A	8: 110,571,000 (GRCm39)	V425I	possibly damaging	Het
Apob	A	T	12: 8,066,188 (GRCm39)	R4353W	probably damaging	Het
Arhgef38	T	C	3: 132,839,423 (GRCm39)	K540R	probably benign	Het
B3galt2	A	T	1: 143,522,640 (GRCm39)	T259S	possibly damaging	Het
Btbd8	G	A	5: 107,651,583 (GRCm39)	V159I	probably benign	Het
C2cd2l	T	C	9: 44,224,788 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Ccdc171	A	T	4: 83,661,234 (GRCm39)	T1115S	probably damaging	Het
Chst2	C	T	9: 95,287,803 (GRCm39)	G181D	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Cpt1a	A	C	19: 3,412,152 (GRCm39)	D208A	probably benign	Het
Crocc2	A	G	1: 93,141,754 (GRCm39)	E1183G	probably benign	Het
Defa39	G	A	8: 22,193,485 (GRCm39)	S45F	possibly damaging	Het
Dlg5	T	A	14: 24,208,128 (GRCm39)	H1003L	probably damaging	Het
Dok2	A	T	14: 71,013,158 (GRCm39)	I109L	probably benign	Het
Dpy19l4	A	T	4: 11,285,111 (GRCm39)	I465K	probably damaging	Het
Dync1h1	A	T	12: 110,612,639 (GRCm39)	D2838V	probably damaging	Het
Frem3	A	G	8: 81,339,644 (GRCm39)	R646G	possibly damaging	Het
Gcfc2	T	A	6: 81,923,477 (GRCm39)	F514I	probably damaging	Het
Gm8104	T	C	14: 42,958,942 (GRCm39)	M44T	probably benign	Het
Golph3l	T	A	3: 95,524,750 (GRCm39)	W334R	probably damaging	Het
Gpr179	A	T	11: 97,235,002 (GRCm39)	F443I	probably damaging	Het
Ift172	A	G	5: 31,413,927 (GRCm39)	V1467A	probably benign	Het
Ift172	A	T	5: 31,444,289 (GRCm39)	D44E	probably damaging	Het
Il1rl1	C	T	1: 40,501,016 (GRCm39)	A464V	possibly damaging	Het
Irx5	A	G	8: 93,086,481 (GRCm39)	E188G	probably damaging	Het
Jak1	A	G	4: 101,019,123 (GRCm39)	V710A	probably damaging	Het
Kcng4	A	T	8: 120,359,693 (GRCm39)	F228I	probably damaging	Het
Lifr	A	G	15: 7,196,530 (GRCm39)	N238S	probably benign	Het
Ltbp3	C	A	19: 5,797,505 (GRCm39)	H414Q	probably damaging	Het
Mcpt8	A	G	14: 56,319,794 (GRCm39)	C219R	probably benign	Het
Mepce	A	T	5: 137,783,950 (GRCm39)	N125K	possibly damaging	Het
Mfap3	T	C	11: 57,420,598 (GRCm39)	F193S	probably damaging	Het
Miox	T	A	15: 89,219,702 (GRCm39)	Y63*	probably null	Het
Msl2	A	T	9: 100,978,949 (GRCm39)	H441L	probably benign	Het
Nemp2	T	A	1: 52,680,069 (GRCm39)	S98T	possibly damaging	Het
Neto2	G	T	8: 86,367,187 (GRCm39)	A547E	probably benign	Het
Nol12	T	C	15: 78,825,033 (GRCm39)		probably benign	Het
Npr3	T	C	15: 11,845,361 (GRCm39)	I504V	probably damaging	Het
Or4c106	A	G	2: 88,683,215 (GRCm39)	D307G	probably null	Het
Pcdhb3	T	C	18: 37,433,998 (GRCm39)		probably benign	Het
Pear1	C	A	3: 87,659,827 (GRCm39)	G720W	probably damaging	Het
Pibf1	T	G	14: 99,344,834 (GRCm39)	D151E	probably damaging	Het
Pla2g6	T	A	15: 79,193,016 (GRCm39)	N217I	probably damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Plcl1	C	T	1: 55,735,474 (GRCm39)	L272F	probably damaging	Het
Ppp4r4	A	T	12: 103,571,228 (GRCm39)	K656*	probably null	Het
Prr22	G	A	17: 57,078,490 (GRCm39)	M214I	probably benign	Het
Ror1	G	T	4: 100,269,128 (GRCm39)	R322L	possibly damaging	Het
Sh3tc2	G	A	18: 62,108,642 (GRCm39)	W244*	probably null	Het
Slamf6	A	G	1: 171,775,615 (GRCm39)	N320S	probably null	Het
Sorl1	G	T	9: 41,881,038 (GRCm39)	T2161K	probably benign	Het
Spata31e2	T	A	1: 26,721,586 (GRCm39)	D1198V	probably benign	Het
Sstr2	T	C	11: 113,515,375 (GRCm39)	F98S	probably damaging	Het
Stk33	A	T	7: 108,920,672 (GRCm39)	D348E	probably benign	Het
Sulf1	T	A	1: 12,908,664 (GRCm39)	L559Q	probably damaging	Het
Syne2	A	G	12: 76,035,927 (GRCm39)	D3738G	probably benign	Het
Taok3	A	T	5: 117,366,095 (GRCm39)	Q382L	probably benign	Het
Tet2	T	A	3: 133,192,178 (GRCm39)	H752L	possibly damaging	Het
Tia1	A	C	6: 86,403,638 (GRCm39)	K285T	probably damaging	Het
Tle3	G	T	9: 61,309,206 (GRCm39)		probably null	Het
Top1mt	T	C	15: 75,537,505 (GRCm39)	T414A	possibly damaging	Het
Ubc	A	T	5: 125,464,406 (GRCm39)	I307N	probably damaging	Het
Vmn2r96	A	T	17: 18,804,124 (GRCm39)	D266V	possibly damaging	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zfp456	T	A	13: 67,510,483 (GRCm39)	K102*	probably null	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	probably damaging	Het

Other mutations in Slc1a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Slc1a6	APN	10	78,637,647 (GRCm39)	missense	probably damaging	1.00
IGL00496:Slc1a6	APN	10	78,629,142 (GRCm39)	missense	probably damaging	1.00
IGL01099:Slc1a6	APN	10	78,624,831 (GRCm39)	missense	possibly damaging	0.67
IGL02299:Slc1a6	APN	10	78,629,137 (GRCm39)	missense	probably damaging	1.00
IGL02677:Slc1a6	APN	10	78,624,898 (GRCm39)	missense	probably damaging	1.00
IGL02705:Slc1a6	APN	10	78,637,788 (GRCm39)	missense	probably damaging	1.00
IGL03024:Slc1a6	APN	10	78,650,442 (GRCm39)	missense	probably benign
IGL03185:Slc1a6	APN	10	78,637,741 (GRCm39)	missense	probably damaging	1.00
IGL03046:Slc1a6	UTSW	10	78,636,008 (GRCm39)	missense	probably benign	0.19
R0183:Slc1a6	UTSW	10	78,627,067 (GRCm39)	missense	probably damaging	1.00
R0373:Slc1a6	UTSW	10	78,637,756 (GRCm39)	nonsense	probably null
R0730:Slc1a6	UTSW	10	78,631,842 (GRCm39)	missense	probably benign	0.13
R0774:Slc1a6	UTSW	10	78,648,658 (GRCm39)	missense	probably benign	0.03
R0838:Slc1a6	UTSW	10	78,632,056 (GRCm39)	missense	probably damaging	1.00
R1449:Slc1a6	UTSW	10	78,635,951 (GRCm39)	missense	probably damaging	0.99
R1822:Slc1a6	UTSW	10	78,648,765 (GRCm39)	nonsense	probably null
R1853:Slc1a6	UTSW	10	78,648,758 (GRCm39)	missense	probably damaging	0.97
R1854:Slc1a6	UTSW	10	78,648,758 (GRCm39)	missense	probably damaging	0.97
R1855:Slc1a6	UTSW	10	78,648,758 (GRCm39)	missense	probably damaging	0.97
R1866:Slc1a6	UTSW	10	78,627,183 (GRCm39)	missense	probably damaging	0.99
R2073:Slc1a6	UTSW	10	78,635,964 (GRCm39)	missense	possibly damaging	0.93
R2279:Slc1a6	UTSW	10	78,624,882 (GRCm39)	missense	probably benign	0.12
R2360:Slc1a6	UTSW	10	78,648,718 (GRCm39)	missense	possibly damaging	0.91
R2939:Slc1a6	UTSW	10	78,650,448 (GRCm39)	makesense	probably null
R3111:Slc1a6	UTSW	10	78,624,915 (GRCm39)	missense	probably damaging	0.99
R3926:Slc1a6	UTSW	10	78,648,715 (GRCm39)	missense	possibly damaging	0.91
R4116:Slc1a6	UTSW	10	78,623,723 (GRCm39)	missense	probably benign	0.00
R4798:Slc1a6	UTSW	10	78,635,952 (GRCm39)	missense	probably damaging	1.00
R4916:Slc1a6	UTSW	10	78,632,085 (GRCm39)	missense	probably damaging	1.00
R5054:Slc1a6	UTSW	10	78,650,436 (GRCm39)	missense	probably damaging	1.00
R5166:Slc1a6	UTSW	10	78,632,103 (GRCm39)	critical splice donor site	probably null
R5304:Slc1a6	UTSW	10	78,629,141 (GRCm39)	missense	probably damaging	1.00
R5367:Slc1a6	UTSW	10	78,623,637 (GRCm39)	missense	probably damaging	1.00
R5554:Slc1a6	UTSW	10	78,631,816 (GRCm39)	missense	probably benign	0.00
R5635:Slc1a6	UTSW	10	78,624,925 (GRCm39)	missense	possibly damaging	0.67
R5773:Slc1a6	UTSW	10	78,629,111 (GRCm39)	splice site	probably null
R6117:Slc1a6	UTSW	10	78,624,822 (GRCm39)	missense	possibly damaging	0.72
R6167:Slc1a6	UTSW	10	78,637,671 (GRCm39)	missense	probably benign	0.40
R6174:Slc1a6	UTSW	10	78,637,741 (GRCm39)	missense	probably damaging	1.00
R6221:Slc1a6	UTSW	10	78,635,910 (GRCm39)	missense	probably damaging	0.98
R6323:Slc1a6	UTSW	10	78,648,721 (GRCm39)	missense	probably damaging	1.00
R6670:Slc1a6	UTSW	10	78,623,646 (GRCm39)	missense	probably benign	0.00
R7166:Slc1a6	UTSW	10	78,648,646 (GRCm39)	missense	possibly damaging	0.96
R7292:Slc1a6	UTSW	10	78,650,438 (GRCm39)	missense	possibly damaging	0.84
R7548:Slc1a6	UTSW	10	78,650,265 (GRCm39)	missense	probably damaging	1.00
R7779:Slc1a6	UTSW	10	78,631,789 (GRCm39)	missense	probably damaging	0.96
R7843:Slc1a6	UTSW	10	78,632,094 (GRCm39)	missense	probably damaging	1.00
R8068:Slc1a6	UTSW	10	78,648,706 (GRCm39)	missense	possibly damaging	0.96
R8190:Slc1a6	UTSW	10	78,627,067 (GRCm39)	missense	probably damaging	1.00
R8210:Slc1a6	UTSW	10	78,632,091 (GRCm39)	missense	possibly damaging	0.95
R8846:Slc1a6	UTSW	10	78,637,781 (GRCm39)	missense	probably damaging	1.00
R9216:Slc1a6	UTSW	10	78,637,692 (GRCm39)	missense	probably damaging	1.00
R9660:Slc1a6	UTSW	10	78,648,698 (GRCm39)	missense	probably benign	0.06
R9798:Slc1a6	UTSW	10	78,629,167 (GRCm39)	critical splice donor site	probably null
Z1176:Slc1a6	UTSW	10	78,631,909 (GRCm39)	missense	possibly damaging	0.65
Z1177:Slc1a6	UTSW	10	78,648,728 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc1a6	UTSW	10	78,627,101 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CCAGTGCTGGCTTTGTGCT -3'
(R):5'- AGAGTTCAGGGAAAGGCCAT -3'

Sequencing Primer
(F):5'- CTGGCTTTGTGCTTGTGATAG -3'
(R):5'- CTGTGATGAGTGCCTGTA -3'

Posted On

2018-04-27