Mutagenetix > Incidental Mutations

Incidental Mutation 'R0016:Slc7a1'

32690

Institutional Source

Beutler Lab

Gene Symbol

Slc7a1

Ensembl Gene

ENSMUSG00000041313

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 1

Synonyms

Rev-1, Rec-1, Atrc1, Cat1, mCAT-1, 4831426K01Rik, Atrc-1

MMRRC Submission

038311-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0016 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

148327410-148399904 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148334583 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 522 (V522A)

Ref Sequence

ENSEMBL: ENSMUSP00000117781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048116] [ENSMUST00000138257]

Predicted Effect

probably benign
Transcript: ENSMUST00000048116
AA Change: V522A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: V522A

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	32	440	1.3e-51	PFAM
Pfam:AA_permease	36	431	1.3e-42	PFAM
transmembrane domain	487	509	N/A	INTRINSIC
transmembrane domain	519	541	N/A	INTRINSIC
Pfam:AA_permease_C	551	601	1.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138257
AA Change: V522A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: V522A

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	32	439	6e-52	PFAM
Pfam:AA_permease	36	433	2.3e-43	PFAM
transmembrane domain	487	509	N/A	INTRINSIC
transmembrane domain	519	541	N/A	INTRINSIC

Meta Mutation Damage Score

0.2672

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (58/58)

MGI Phenotype

PHENOTYPE: Homozygous mutants die on the first day of birth and are very anemic. Peripheral blood contains 50% fewer red blood cells, reduced hemoglobin levels, and a defect in erythroid maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,294,800	V1181G	probably benign	Het
Adamts12	A	T	15: 11,217,829	I291F	probably damaging	Het
Aspm	G	C	1: 139,479,544	Q2056H	probably benign	Het
BC067074	T	C	13: 113,366,105	Y115H	probably damaging	Het
C7	A	T	15: 5,046,924	V122E	probably benign	Het
Casp12	A	T	9: 5,352,844	Q152L	probably null	Het
Cdh16	T	A	8: 104,617,632	T92S	probably benign	Het
Chrd	G	C	16: 20,734,308	V162L	possibly damaging	Het
Cpne8	A	G	15: 90,501,405		probably benign	Het
Cyp2j7	T	A	4: 96,202,147	I347F	probably damaging	Het
Cyp4a10	A	T	4: 115,521,107	Q130L	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Dgkd	T	C	1: 87,917,952	S294P	probably benign	Het
Dnah8	A	G	17: 30,663,316	I621V	probably benign	Het
Dync2h1	A	G	9: 7,144,346		probably benign	Het
Echdc1	A	T	10: 29,322,421		probably benign	Het
Elovl3	T	A	19: 46,132,158	F30Y	probably damaging	Het
Fa2h	T	C	8: 111,393,514	Y80C	probably damaging	Het
Fam208b	A	C	13: 3,585,170		probably null	Het
Fgd3	C	T	13: 49,296,609	D55N	probably benign	Het
Fhod1	T	C	8: 105,331,655	E823G	possibly damaging	Het
Gapvd1	A	G	2: 34,699,913		probably benign	Het
Gm17067	A	T	7: 42,708,622	I152K	probably benign	Het
Gm1966	G	A	7: 106,603,246	L264F	probably benign	Het
Gm9833	A	T	3: 10,089,319	M383L	possibly damaging	Het
Kif27	A	G	13: 58,354,714	V50A	probably damaging	Het
Kpna2	T	C	11: 106,991,086	T305A	probably benign	Het
Krtap22-2	A	G	16: 89,010,519		probably benign	Het
Lrp2bp	T	A	8: 46,012,031	F62L	probably damaging	Het
Marf1	G	A	16: 14,152,265	H197Y	probably damaging	Het
Mob3b	A	G	4: 35,083,947	F81L	probably benign	Het
Mon2	C	T	10: 123,035,546	V389M	probably damaging	Het
Myh8	A	G	11: 67,298,525	K1176E	probably damaging	Het
Naf1	T	C	8: 66,889,055		probably benign	Het
Nckap1l	A	G	15: 103,475,636	T554A	probably benign	Het
Oog3	A	G	4: 144,158,071	Y432H	probably damaging	Het
Paxbp1	A	T	16: 91,036,036		probably benign	Het
Phf20	A	T	2: 156,267,194	K154*	probably null	Het
Plekhj1	T	C	10: 80,796,416	D74G	possibly damaging	Het
Plpp4	T	C	7: 129,323,424	C128R	probably damaging	Het
Rcan3	A	T	4: 135,418,378		probably null	Het
Sh3rf1	T	A	8: 61,374,138	M642K	probably benign	Het
Sorbs1	A	G	19: 40,314,738		probably benign	Het
Spry2	C	T	14: 105,893,297	V152M	probably benign	Het
Srgap2	A	G	1: 131,349,462	M349T	possibly damaging	Het
Stag3	A	G	5: 138,291,381	H271R	possibly damaging	Het
Stat4	T	C	1: 52,068,780	V136A	probably benign	Het
Stc2	A	T	11: 31,360,177	D286E	probably benign	Het
Stk31	T	C	6: 49,437,377	Y482H	probably damaging	Het
Ticrr	C	T	7: 79,693,792	P1135L	probably benign	Het
Tmem55b	C	T	14: 50,928,894	R213Q	probably damaging	Het
Trim27	A	T	13: 21,191,229	E310V	probably benign	Het
Uvrag	T	C	7: 98,991,981	K284R	probably benign	Het
Vmn1r78	A	C	7: 12,153,352	S297R	probably benign	Het
Xylt2	A	G	11: 94,669,640	S270P	probably damaging	Het
Zfhx3	T	C	8: 108,950,178	M2620T	probably benign	Het
Zkscan2	C	A	7: 123,499,996		probably benign	Het
Zwint	T	C	10: 72,657,198		probably benign	Het

Other mutations in Slc7a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Slc7a1	APN	5	148337192	missense	possibly damaging	0.61
H8441:Slc7a1	UTSW	5	148334545	missense	probably benign	0.17
R0028:Slc7a1	UTSW	5	148335511	missense	probably benign	0.00
R0103:Slc7a1	UTSW	5	148352426	nonsense	probably null
R0103:Slc7a1	UTSW	5	148352426	nonsense	probably null
R0565:Slc7a1	UTSW	5	148352069	missense	probably damaging	1.00
R0696:Slc7a1	UTSW	5	148340556	missense	probably benign	0.11
R1338:Slc7a1	UTSW	5	148345936	missense	probably damaging	1.00
R1539:Slc7a1	UTSW	5	148335593	missense	possibly damaging	0.95
R1926:Slc7a1	UTSW	5	148348303	missense	probably damaging	1.00
R2895:Slc7a1	UTSW	5	148340592	missense	probably benign	0.06
R2910:Slc7a1	UTSW	5	148352257	missense	probably benign	0.00
R3721:Slc7a1	UTSW	5	148335533	nonsense	probably null
R3722:Slc7a1	UTSW	5	148335533	nonsense	probably null
R4028:Slc7a1	UTSW	5	148345812	missense	probably benign	0.01
R4114:Slc7a1	UTSW	5	148342057	missense	probably damaging	1.00
R4510:Slc7a1	UTSW	5	148340562	missense	probably damaging	1.00
R4511:Slc7a1	UTSW	5	148340562	missense	probably damaging	1.00
R4600:Slc7a1	UTSW	5	148342059	missense	probably damaging	1.00
R4657:Slc7a1	UTSW	5	148352399	missense	probably benign
R4723:Slc7a1	UTSW	5	148335440	missense	probably damaging	0.99
R5248:Slc7a1	UTSW	5	148333988	missense	possibly damaging	0.91
R5697:Slc7a1	UTSW	5	148333982	missense	probably benign	0.00
R6027:Slc7a1	UTSW	5	148333964	missense	possibly damaging	0.94
R6370:Slc7a1	UTSW	5	148340673	missense	probably damaging	1.00
R6847:Slc7a1	UTSW	5	148334658	missense	probably benign
R7007:Slc7a1	UTSW	5	148352446
R7635:Slc7a1	UTSW	5	148352236	missense	probably damaging	0.99
V1024:Slc7a1	UTSW	5	148334545	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GGGTCACCTCCAAGGCCAAACAAT -3'
(R):5'- AGCCGCTCTTATCATCACCGTGT -3'

Sequencing Primer
(F):5'- GTTCAGCTTTCTTACAGAAAAAAACC -3'
(R):5'- ccctgtactggggcatataaag -3'

Posted On

2013-05-09