Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02728:Slc7a10'

305307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc7a10

Ensembl Gene

ENSMUSG00000030495

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 10

Synonyms

Asc-1, D7Bwg0847e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

34885810-34900539 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34897123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 208 (I208N)

Ref Sequence

ENSEMBL: ENSMUSP00000118331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001854] [ENSMUST00000118444] [ENSMUST00000122409] [ENSMUST00000131048] [ENSMUST00000135452] [ENSMUST00000167441]

AlphaFold

P63115

Predicted Effect

probably damaging
Transcript: ENSMUST00000001854
AA Change: I208N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495
AA Change: I208N

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC
Pfam:AA_permease_2	46	474	4.8e-65	PFAM
Pfam:AA_permease	51	467	9.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118444

SMART Domains

Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
CUB	43	159	9.97e-20	SMART
LDLa	165	202	7.21e-11	SMART
LDLa	211	251	1.37e-11	SMART
CUB	254	365	1.98e-3	SMART
LDLa	367	414	1.85e-1	SMART
LDLa	415	453	4.44e-3	SMART
LDLa	454	490	8.74e-10	SMART
transmembrane domain	497	519	N/A	INTRINSIC
low complexity region	584	606	N/A	INTRINSIC
low complexity region	641	652	N/A	INTRINSIC
low complexity region	674	684	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122409

SMART Domains

Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
CUB	64	180	9.97e-20	SMART
LDLa	186	223	7.21e-11	SMART
LDLa	232	272	1.37e-11	SMART
CUB	275	386	1.98e-3	SMART
LDLa	388	435	1.85e-1	SMART
LDLa	436	474	4.44e-3	SMART
LDLa	475	511	8.74e-10	SMART
transmembrane domain	518	540	N/A	INTRINSIC
low complexity region	605	627	N/A	INTRINSIC
low complexity region	662	673	N/A	INTRINSIC
low complexity region	695	705	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131048
AA Change: I208N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495
AA Change: I208N

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC
Pfam:AA_permease_2	46	346	8.6e-48	PFAM
Pfam:AA_permease	51	346	1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135452

SMART Domains

Protein: ENSMUSP00000127577
Gene: ENSMUSG00000030495

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC
Pfam:AA_permease_2	46	125	1.5e-15	PFAM
Pfam:AA_permease	51	125	3.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155404

Predicted Effect

probably benign
Transcript: ENSMUST00000167441

SMART Domains

Protein: ENSMUSP00000129954
Gene: ENSMUSG00000030495

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]
PHENOTYPE: A targeted mutation of this gene results in mice that develop tremors, ataxia and seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,073,880 (GRCm39)		probably benign	Het
Als2	A	G	1: 59,235,506 (GRCm39)	V726A	probably benign	Het
Apba1	G	A	19: 23,922,269 (GRCm39)	G779E	possibly damaging	Het
Atr	T	A	9: 95,818,528 (GRCm39)	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,983,846 (GRCm39)	K566E	probably damaging	Het
Btd	T	C	14: 31,389,319 (GRCm39)	F347L	probably benign	Het
Btg2	T	C	1: 134,006,643 (GRCm39)		probably benign	Het
Cblb	T	A	16: 52,003,672 (GRCm39)	S717T	probably benign	Het
Cep250	T	A	2: 155,825,198 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,828,968 (GRCm39)	N312S	probably benign	Het
Clasp1	A	T	1: 118,530,107 (GRCm39)	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,813,172 (GRCm39)	C2906S	probably benign	Het
Csmd1	C	T	8: 16,049,779 (GRCm39)		probably null	Het
Cspg4	T	A	9: 56,793,765 (GRCm39)	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,126,739 (GRCm39)	D469V	probably damaging	Het
Dhh	A	T	15: 98,792,192 (GRCm39)		probably null	Het
Dhrs3	A	G	4: 144,646,642 (GRCm39)	R231G	probably damaging	Het
Disp3	A	G	4: 148,356,495 (GRCm39)	S122P	probably damaging	Het
Dnah1	T	C	14: 31,005,955 (GRCm39)	I2275V	probably benign	Het
Dock8	A	C	19: 25,109,584 (GRCm39)	N922T	probably benign	Het
Eef1d	A	G	15: 75,774,945 (GRCm39)	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,763,510 (GRCm39)	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,505,502 (GRCm39)		probably benign	Het
Emb	A	G	13: 117,369,301 (GRCm39)	M50V	probably benign	Het
Eml4	T	C	17: 83,780,568 (GRCm39)		probably null	Het
Fkbp10	G	T	11: 100,306,803 (GRCm39)	R65L	probably damaging	Het
Gm5878	T	C	6: 85,095,574 (GRCm39)	N83S	probably benign	Het
Gm8165	C	T	14: 43,913,694 (GRCm39)	A57T	unknown	Het
Gpr179	A	G	11: 97,228,726 (GRCm39)	V1143A	probably damaging	Het
Hat1	T	C	2: 71,251,604 (GRCm39)	Y218H	probably damaging	Het
Hfm1	T	A	5: 107,026,689 (GRCm39)	N885I	probably benign	Het
Ift70a1	T	A	2: 75,811,193 (GRCm39)	M297L	probably benign	Het
Inha	T	C	1: 75,486,091 (GRCm39)	S129P	probably damaging	Het
Ints9	T	C	14: 65,230,457 (GRCm39)	I128T	probably damaging	Het
Klra9	T	C	6: 130,168,149 (GRCm39)		probably null	Het
Lrba	A	G	3: 86,683,356 (GRCm39)	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,691,410 (GRCm39)	N3356D	probably benign	Het
Map3k5	A	G	10: 19,994,038 (GRCm39)	D1008G	possibly damaging	Het
Med4	T	A	14: 73,755,415 (GRCm39)	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,557,716 (GRCm39)	V254A	possibly damaging	Het
Napg	C	T	18: 63,127,375 (GRCm39)		probably benign	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or5k1	C	T	16: 58,617,843 (GRCm39)	R122H	probably benign	Het
Or7g33	A	G	9: 19,449,142 (GRCm39)	F28S	possibly damaging	Het
Or8d2	T	C	9: 38,760,222 (GRCm39)	S271P	probably damaging	Het
Or9r3	T	A	10: 129,948,487 (GRCm39)	R57S	probably damaging	Het
Pias1	T	A	9: 62,830,926 (GRCm39)	S161C	probably damaging	Het
Pias1	G	T	9: 62,830,927 (GRCm39)	N160K	possibly damaging	Het
Pigp	G	A	16: 94,168,466 (GRCm39)	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,020,065 (GRCm39)	V1070E	probably benign	Het
Pramel51	G	T	12: 88,142,792 (GRCm39)	H275Q	probably benign	Het
Prepl	T	C	17: 85,378,010 (GRCm39)	T457A	probably damaging	Het
Psg23	G	A	7: 18,340,853 (GRCm39)	A467V	probably benign	Het
Rad54l	T	C	4: 115,980,146 (GRCm39)	R13G	probably benign	Het
Rassf5	T	C	1: 131,108,336 (GRCm39)	D248G	probably damaging	Het
Rspo1	A	G	4: 124,898,955 (GRCm39)	N92S	probably damaging	Het
Scube1	G	A	15: 83,543,217 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,511,554 (GRCm39)	V616F	probably damaging	Het
Sema3a	T	C	5: 13,615,881 (GRCm39)	V435A	probably damaging	Het
Stab2	A	T	10: 86,692,420 (GRCm39)	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,665,235 (GRCm39)	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,677,480 (GRCm39)	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,681,676 (GRCm39)	W570R	probably damaging	Het
Telo2	A	T	17: 25,323,628 (GRCm39)	F600I	probably damaging	Het
Trim36	T	A	18: 46,305,669 (GRCm39)	H426L	probably benign	Het
Trpm6	A	T	19: 18,787,016 (GRCm39)	N531Y	possibly damaging	Het
Ttc39a	T	C	4: 109,299,920 (GRCm39)	C470R	probably damaging	Het
Ttn	C	T	2: 76,615,283 (GRCm39)	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,196,122 (GRCm39)	I1253F	probably damaging	Het
Unc79	A	T	12: 103,088,688 (GRCm39)	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,691,998 (GRCm39)	C89S	probably benign	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het

Other mutations in Slc7a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Slc7a10	APN	7	34,885,917 (GRCm39)	missense	possibly damaging	0.90
IGL02892:Slc7a10	APN	7	34,894,593 (GRCm39)	missense	possibly damaging	0.67
R0671:Slc7a10	UTSW	7	34,896,758 (GRCm39)	missense	probably benign	0.00
R1943:Slc7a10	UTSW	7	34,899,723 (GRCm39)	missense	probably benign	0.07
R3743:Slc7a10	UTSW	7	34,898,325 (GRCm39)	missense	probably damaging	0.99
R4256:Slc7a10	UTSW	7	34,898,140 (GRCm39)	missense	probably damaging	0.96
R4583:Slc7a10	UTSW	7	34,897,377 (GRCm39)	critical splice donor site	probably null
R4638:Slc7a10	UTSW	7	34,897,355 (GRCm39)	missense	probably damaging	1.00
R4749:Slc7a10	UTSW	7	34,900,187 (GRCm39)	missense	probably damaging	1.00
R5023:Slc7a10	UTSW	7	34,896,780 (GRCm39)	missense	possibly damaging	0.48
R5755:Slc7a10	UTSW	7	34,898,336 (GRCm39)	missense	probably damaging	0.99
R6247:Slc7a10	UTSW	7	34,886,012 (GRCm39)	missense	possibly damaging	0.57
R6430:Slc7a10	UTSW	7	34,897,083 (GRCm39)	missense	probably benign
R6450:Slc7a10	UTSW	7	34,886,015 (GRCm39)	missense	possibly damaging	0.83
R6814:Slc7a10	UTSW	7	34,894,689 (GRCm39)	missense	probably damaging	0.98
R7026:Slc7a10	UTSW	7	34,898,139 (GRCm39)	missense	probably damaging	1.00
R7110:Slc7a10	UTSW	7	34,899,009 (GRCm39)	missense	probably benign
R7923:Slc7a10	UTSW	7	34,894,554 (GRCm39)	missense	probably damaging	0.98
R8000:Slc7a10	UTSW	7	34,899,865 (GRCm39)	missense
R8680:Slc7a10	UTSW	7	34,885,997 (GRCm39)	missense	probably benign	0.34
R8827:Slc7a10	UTSW	7	34,897,313 (GRCm39)	missense	probably damaging	1.00
R8940:Slc7a10	UTSW	7	34,899,875 (GRCm39)	missense	probably benign	0.03
R9224:Slc7a10	UTSW	7	34,894,639 (GRCm39)	nonsense	probably null
Z1176:Slc7a10	UTSW	7	34,899,755 (GRCm39)	missense	probably damaging	1.00
Z1186:Slc7a10	UTSW	7	34,885,956 (GRCm39)	missense	probably benign
Z1191:Slc7a10	UTSW	7	34,885,956 (GRCm39)	missense	probably benign

Posted On

2015-04-16