Mutagenetix > Incidental Mutation

Incidental Mutation 'R7110:Slc7a10'

568555

Institutional Source

Beutler Lab

Gene Symbol

Slc7a10

Ensembl Gene

ENSMUSG00000030495

Gene Name

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

Synonyms

Asc-1, D7Bwg0847e

MMRRC Submission

045202-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R7110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34885810-34900539 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34899009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 360 (H360R)

Ref Sequence

ENSEMBL: ENSMUSP00000118331 (fasta)

Gene Model

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

AlphaFold

P63115

Predicted Effect

silent
Transcript: ENSMUST00000001854

SMART Domains

Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495

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 benign
Transcript: ENSMUST00000131048
AA Change: H360R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495
AA Change: H360R

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

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,571 (GRCm39)	T184A	possibly damaging	Het
Abca4	T	A	3: 121,926,292 (GRCm39)	Y1243N	probably damaging	Het
Adamts7	A	G	9: 90,076,017 (GRCm39)	T1250A	possibly damaging	Het
Adgrg3	T	C	8: 95,761,591 (GRCm39)	V118A	possibly damaging	Het
Agrn	A	G	4: 156,263,332 (GRCm39)	V364A	possibly damaging	Het
Cacna2d1	C	A	5: 16,562,782 (GRCm39)	L853I	probably damaging	Het
Ccdc25	A	G	14: 66,094,165 (GRCm39)	K124R	probably benign	Het
Ccdc73	A	G	2: 104,803,569 (GRCm39)	M236V	probably benign	Het
Cdh1	G	A	8: 107,395,176 (GRCm39)	D862N	possibly damaging	Het
Cdh5	A	G	8: 104,867,400 (GRCm39)	D559G	probably damaging	Het
Celsr2	C	A	3: 108,305,181 (GRCm39)	G2133C	probably damaging	Het
Chd5	A	G	4: 152,469,896 (GRCm39)	N1823S	probably damaging	Het
Cog7	T	C	7: 121,534,999 (GRCm39)	N562S	probably damaging	Het
Dcaf6	A	T	1: 165,179,537 (GRCm39)	S534R	probably benign	Het
Donson	G	A	16: 91,479,009 (GRCm39)	R436*	probably null	Het
Fam53c	T	A	18: 34,895,523 (GRCm39)		probably null	Het
Foxi3	A	G	6: 70,937,730 (GRCm39)	T321A	probably benign	Het
Frmd4b	A	T	6: 97,273,192 (GRCm39)	Y733*	probably null	Het
Fscn2	A	T	11: 120,257,580 (GRCm39)	T314S	probably benign	Het
Gfral	A	G	9: 76,072,112 (GRCm39)	I386T	possibly damaging	Het
Gm21698	T	C	5: 26,190,175 (GRCm39)	E174G	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gprin1	T	C	13: 54,887,056 (GRCm39)	D406G	probably benign	Het
Habp2	A	T	19: 56,299,596 (GRCm39)	R128*	probably null	Het
Hoxc10	A	T	15: 102,879,356 (GRCm39)	Y292F	probably damaging	Het
Hydin	A	T	8: 111,081,583 (GRCm39)		probably null	Het
Igkv12-89	T	C	6: 68,812,115 (GRCm39)	D18G	probably damaging	Het
Jhy	T	C	9: 40,828,556 (GRCm39)	N450S	probably damaging	Het
Klhl18	T	A	9: 110,279,833 (GRCm39)	Q119L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lsmem1	A	T	12: 40,235,272 (GRCm39)		probably null	Het
Ly75	A	G	2: 60,206,528 (GRCm39)	I47T	probably benign	Het
Med12l	C	A	3: 59,169,645 (GRCm39)	T1603K	possibly damaging	Het
Mgat5	A	G	1: 127,310,716 (GRCm39)	D210G	possibly damaging	Het
Mgmt	G	T	7: 136,687,715 (GRCm39)	G55W	probably damaging	Het
Mrpl57	G	A	14: 58,063,754 (GRCm39)		probably benign	Het
Mtg1	G	A	7: 139,726,779 (GRCm39)	R209Q	probably benign	Het
Muc21	CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	17: 35,933,510 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,353,559 (GRCm39)	C826W	possibly damaging	Het
Myot	A	G	18: 44,474,453 (GRCm39)	D146G	probably damaging	Het
Nlrp4f	T	A	13: 65,347,160 (GRCm39)	I11F	probably damaging	Het
Nsun5	T	A	5: 135,400,104 (GRCm39)	Y76N	probably damaging	Het
Or7a42	A	T	10: 78,791,284 (GRCm39)	M82L	possibly damaging	Het
Pcdhb3	A	G	18: 37,435,975 (GRCm39)	N647S	possibly damaging	Het
Pdgfra	T	A	5: 75,349,895 (GRCm39)	Y926*	probably null	Het
Pdzd2	A	T	15: 12,368,099 (GRCm39)	L2630H	probably damaging	Het
Phox2b	G	A	5: 67,253,505 (GRCm39)	S297L	unknown	Het
Polr3e	T	A	7: 120,539,510 (GRCm39)		probably null	Het
Ppp4r2	T	A	6: 100,842,823 (GRCm39)	V238E	probably damaging	Het
Proc	A	T	18: 32,266,441 (GRCm39)	F129I	probably benign	Het
Sgca	T	A	11: 94,854,227 (GRCm39)		probably null	Het
Slurp2	G	A	15: 74,614,964 (GRCm39)	T59I	probably benign	Het
Son	A	G	16: 91,453,406 (GRCm39)	T718A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spink7	T	C	18: 62,727,338 (GRCm39)	N62S	probably damaging	Het
Stxbp3	C	A	3: 108,723,649 (GRCm39)	R195S	probably damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Tbc1d9b	A	T	11: 50,054,657 (GRCm39)	I934F	probably benign	Het
Tecpr2	T	G	12: 110,885,406 (GRCm39)	L195R	probably damaging	Het
Tns2	G	C	15: 102,013,801 (GRCm39)	C71S	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp40	G	T	1: 87,913,884 (GRCm39)	T403K	probably benign	Het
Vat1	G	T	11: 101,356,539 (GRCm39)	R141S	possibly damaging	Het
Vmn2r28	T	G	7: 5,493,733 (GRCm39)	N71T	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
IGL02728:Slc7a10	APN	7	34,897,123 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGCCTATGGTAGATGAGCC -3'
(R):5'- AGCTCTACACTCTGCAAATGC -3'

Sequencing Primer
(F):5'- CCTATGGTAGATGAGCCATGGAG -3'
(R):5'- CTCTACACTCTGCAAATGCTATATAG -3'

Posted On

2019-08-23