Mutagenetix > Incidental Mutation

Incidental Mutation 'R4723:Slc7a1'

354594

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

MMRRC Submission

041959-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148264220-148336714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 148272250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 476 (P476T)

Ref Sequence

ENSEMBL: ENSMUSP00000117781 (fasta)

Gene Model

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

AlphaFold

Q09143

Predicted Effect

probably damaging
Transcript: ENSMUST00000048116
AA Change: P476T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: P476T

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 damaging
Transcript: ENSMUST00000138257
AA Change: P476T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: P476T

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

0.3984

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

94% (77/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,581,644 (GRCm39)	D4800G	probably benign	Het
Akna	T	C	4: 63,305,269 (GRCm39)	D499G	probably benign	Het
Arid1b	A	C	17: 5,387,565 (GRCm39)	I1673L	probably benign	Het
Bcr	T	A	10: 75,011,161 (GRCm39)	M24K	probably benign	Het
Bsn	A	G	9: 107,989,854 (GRCm39)	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,867,227 (GRCm39)	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc6	G	A	11: 98,799,657 (GRCm39)		probably null	Het
Cfap97d2	A	T	8: 13,785,937 (GRCm39)	N69I	probably damaging	Het
Cmtm1	C	T	8: 105,020,307 (GRCm39)	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,592,459 (GRCm39)	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,906,131 (GRCm39)		probably null	Het
Col5a3	T	C	9: 20,720,887 (GRCm39)	H149R	unknown	Het
Coro7	T	G	16: 4,449,858 (GRCm39)	Q634P	probably benign	Het
Crym	A	G	7: 119,800,298 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,532,556 (GRCm39)	F2546L	probably benign	Het
Dmap1	T	C	4: 117,533,236 (GRCm39)	T273A	probably benign	Het
Dnah1	T	C	14: 30,994,899 (GRCm39)	Y2786C	probably damaging	Het
Echs1	A	C	7: 139,690,561 (GRCm39)		probably benign	Het
Edem3	T	A	1: 151,680,449 (GRCm39)	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642 (GRCm39)	I127V	probably benign	Het
Fam193a	A	G	5: 34,578,130 (GRCm39)	D208G	probably benign	Het
Farp2	T	C	1: 93,508,621 (GRCm39)	V773A	probably benign	Het
Gas6	A	G	8: 13,516,848 (GRCm39)	V550A	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm2423	A	G	13: 13,406,961 (GRCm39)		noncoding transcript	Het
Grin1	T	C	2: 25,184,482 (GRCm39)	S911G	probably benign	Het
Hkdc1	T	C	10: 62,236,133 (GRCm39)	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270 (GRCm39)		probably benign	Het
Iars2	A	G	1: 185,048,176 (GRCm39)	Y519H	probably damaging	Het
Ikbkb	A	T	8: 23,159,623 (GRCm39)	M455K	probably benign	Het
Keap1	G	T	9: 21,142,706 (GRCm39)	H516Q	probably benign	Het
Klk1b27	A	T	7: 43,705,956 (GRCm39)	I220F	probably damaging	Het
Knop1	G	A	7: 118,455,087 (GRCm39)		probably benign	Het
Lhcgr	T	C	17: 89,050,030 (GRCm39)	T499A	probably benign	Het
Lrch3	A	T	16: 32,808,854 (GRCm39)		probably null	Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,648,962 (GRCm39)	L1652P	probably damaging	Het
Mbl1	T	C	14: 40,876,515 (GRCm39)	V71A	possibly damaging	Het
Med8	T	A	4: 118,268,998 (GRCm39)	M1K	probably null	Het
Mfsd2b	A	G	12: 4,918,992 (GRCm39)	L88P	probably benign	Het
Mkrn2	T	A	6: 115,588,811 (GRCm39)	C185S	probably damaging	Het
Myo1d	A	G	11: 80,670,667 (GRCm39)		probably benign	Het
Napg	T	G	18: 63,125,563 (GRCm39)		probably null	Het
Ncor1	A	G	11: 62,269,438 (GRCm39)	M253T	probably benign	Het
Oas3	T	C	5: 120,904,321 (GRCm39)	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,764,036 (GRCm39)		noncoding transcript	Het
Opn5	A	T	17: 42,918,091 (GRCm39)	M57K	probably damaging	Het
Or10a3n	A	T	7: 108,493,028 (GRCm39)	F195L	probably benign	Het
Or13j1	T	C	4: 43,705,785 (GRCm39)	K261R	probably damaging	Het
Or52p1	T	C	7: 104,267,696 (GRCm39)	V270A	possibly damaging	Het
Pde2a	C	G	7: 101,143,825 (GRCm39)	P148R	possibly damaging	Het
Prss56	C	T	1: 87,113,059 (GRCm39)	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,812,125 (GRCm39)		probably benign	Het
Rnase9	C	T	14: 51,276,901 (GRCm39)	G26R	probably damaging	Het
Skint4	T	C	4: 111,975,433 (GRCm39)	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,169,398 (GRCm39)	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,890,741 (GRCm39)	Y188C	probably damaging	Het
Smchd1	A	T	17: 71,743,742 (GRCm39)	C474*	probably null	Het
Smurf1	A	T	5: 144,829,994 (GRCm39)	D336E	probably damaging	Het
Sox30	G	A	11: 45,875,592 (GRCm39)	S448N	probably benign	Het
Spag11a	G	A	8: 19,209,398 (GRCm39)	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,344,600 (GRCm39)	K92T	probably damaging	Het
Stam2	T	C	2: 52,610,962 (GRCm39)	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,391,489 (GRCm39)	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,899,410 (GRCm39)	P593S	probably benign	Het
Tek	T	C	4: 94,687,397 (GRCm39)	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,500,592 (GRCm39)	Y891C	probably benign	Het
Tmem220	A	G	11: 66,920,819 (GRCm39)	T75A	possibly damaging	Het
Traf3	T	G	12: 111,228,470 (GRCm39)	D560E	probably damaging	Het
Txlnb	A	G	10: 17,675,015 (GRCm39)	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,286,602 (GRCm39)	N367Y	probably benign	Het
Vnn3	A	G	10: 23,727,589 (GRCm39)	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 80,980,274 (GRCm39)	R156H	probably damaging	Het

Other mutations in Slc7a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Slc7a1	APN	5	148,274,002 (GRCm39)	missense	possibly damaging	0.61
H8441:Slc7a1	UTSW	5	148,271,355 (GRCm39)	missense	probably benign	0.17
R0016:Slc7a1	UTSW	5	148,271,393 (GRCm39)	missense	probably benign	0.04
R0028:Slc7a1	UTSW	5	148,272,321 (GRCm39)	missense	probably benign	0.00
R0103:Slc7a1	UTSW	5	148,289,236 (GRCm39)	nonsense	probably null
R0103:Slc7a1	UTSW	5	148,289,236 (GRCm39)	nonsense	probably null
R0565:Slc7a1	UTSW	5	148,288,879 (GRCm39)	missense	probably damaging	1.00
R0696:Slc7a1	UTSW	5	148,277,366 (GRCm39)	missense	probably benign	0.11
R1338:Slc7a1	UTSW	5	148,282,746 (GRCm39)	missense	probably damaging	1.00
R1539:Slc7a1	UTSW	5	148,272,403 (GRCm39)	missense	possibly damaging	0.95
R1926:Slc7a1	UTSW	5	148,285,113 (GRCm39)	missense	probably damaging	1.00
R2895:Slc7a1	UTSW	5	148,277,402 (GRCm39)	missense	probably benign	0.06
R2910:Slc7a1	UTSW	5	148,289,067 (GRCm39)	missense	probably benign	0.00
R3721:Slc7a1	UTSW	5	148,272,343 (GRCm39)	nonsense	probably null
R3722:Slc7a1	UTSW	5	148,272,343 (GRCm39)	nonsense	probably null
R4028:Slc7a1	UTSW	5	148,282,622 (GRCm39)	missense	probably benign	0.01
R4114:Slc7a1	UTSW	5	148,278,867 (GRCm39)	missense	probably damaging	1.00
R4510:Slc7a1	UTSW	5	148,277,372 (GRCm39)	missense	probably damaging	1.00
R4511:Slc7a1	UTSW	5	148,277,372 (GRCm39)	missense	probably damaging	1.00
R4600:Slc7a1	UTSW	5	148,278,869 (GRCm39)	missense	probably damaging	1.00
R4657:Slc7a1	UTSW	5	148,289,209 (GRCm39)	missense	probably benign
R5248:Slc7a1	UTSW	5	148,270,798 (GRCm39)	missense	possibly damaging	0.91
R5697:Slc7a1	UTSW	5	148,270,792 (GRCm39)	missense	probably benign	0.00
R6027:Slc7a1	UTSW	5	148,270,774 (GRCm39)	missense	possibly damaging	0.94
R6370:Slc7a1	UTSW	5	148,277,483 (GRCm39)	missense	probably damaging	1.00
R6847:Slc7a1	UTSW	5	148,271,468 (GRCm39)	missense	probably benign
R7007:Slc7a1	UTSW	5	148,289,256 (GRCm39)
R7635:Slc7a1	UTSW	5	148,289,046 (GRCm39)	missense	probably damaging	0.99
R7984:Slc7a1	UTSW	5	148,278,920 (GRCm39)	missense	possibly damaging	0.90
R8086:Slc7a1	UTSW	5	148,288,899 (GRCm39)	missense	probably damaging	0.99
R8783:Slc7a1	UTSW	5	148,279,643 (GRCm39)	missense	probably benign
R8851:Slc7a1	UTSW	5	148,285,093 (GRCm39)	missense	probably damaging	1.00
R9314:Slc7a1	UTSW	5	148,269,327 (GRCm39)	missense	probably benign	0.00
R9394:Slc7a1	UTSW	5	148,270,712 (GRCm39)	missense	probably damaging	1.00
R9436:Slc7a1	UTSW	5	148,270,730 (GRCm39)	missense	probably damaging	1.00
V1024:Slc7a1	UTSW	5	148,271,355 (GRCm39)	missense	probably benign	0.17
Z1177:Slc7a1	UTSW	5	148,288,975 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAAGCTGGTGTCATAGCTGGG -3'
(R):5'- AGCCGCTATCAGCACTCATG -3'

Sequencing Primer
(F):5'- CTGGTGTCATAGCTGGGTATCAAAC -3'
(R):5'- GCAGTGGGCATGTCTTTACAG -3'

Posted On

2015-10-21