Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Slc7a1'

258959

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

040713-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148264220-148336714 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 148272343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 445 (R445*)

Ref Sequence

ENSEMBL: ENSMUSP00000117781 (fasta)

Gene Model

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

AlphaFold

Q09143

Predicted Effect

probably null
Transcript: ENSMUST00000048116
AA Change: R445*

SMART Domains

Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: R445*

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 null
Transcript: ENSMUST00000138257
AA Change: R445*

SMART Domains

Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: R445*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,216,254 (GRCm39)	S1485T	probably benign	Het
Akap9	A	G	5: 4,120,351 (GRCm39)	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153 (GRCm39)	Y482H	probably damaging	Het
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,855,102 (GRCm39)	E1420G	probably damaging	Het
Asic3	A	T	5: 24,621,997 (GRCm39)	Y419F	probably benign	Het
Atg7	A	G	6: 114,672,624 (GRCm39)	Y279C	probably damaging	Het
Braf	G	A	6: 39,600,610 (GRCm39)	P616L	probably damaging	Het
Btnl2	T	C	17: 34,577,109 (GRCm39)	M88T	possibly damaging	Het
C1rb	T	A	6: 124,557,620 (GRCm39)	Y586N	probably damaging	Het
Cacna1s	T	C	1: 135,996,780 (GRCm39)	F127S	possibly damaging	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cox8b	T	A	7: 140,478,918 (GRCm39)	K66*	probably null	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,287,500 (GRCm39)	L204P	probably damaging	Het
Fam170a	C	T	18: 50,415,271 (GRCm39)	P306S	probably benign	Het
Fbxl12	A	T	9: 20,550,268 (GRCm39)		probably null	Het
Fndc3a	T	A	14: 72,777,648 (GRCm39)	I1186F	probably benign	Het
Gm12886	T	A	4: 121,274,667 (GRCm39)	D71V	probably damaging	Het
H3c8	T	C	13: 23,719,722 (GRCm39)	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021 (GRCm39)		probably benign	Het
Ighv8-11	A	G	12: 115,530,771 (GRCm39)	I119T	possibly damaging	Het
Ism1	A	T	2: 139,573,931 (GRCm39)	R94*	probably null	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kcnk15	T	C	2: 163,700,214 (GRCm39)	L132P	probably damaging	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mrtfb	C	T	16: 13,203,557 (GRCm39)	A201V	probably damaging	Het
Ncstn	G	A	1: 171,895,462 (GRCm39)	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,385,367 (GRCm39)		probably null	Het
Omp	T	C	7: 97,794,420 (GRCm39)	N69S	probably benign	Het
Or10d3	A	C	9: 39,461,418 (GRCm39)	C250G	probably damaging	Het
Or4a75	A	T	2: 89,448,503 (GRCm39)	I11N	possibly damaging	Het
Pak1	C	T	7: 97,503,704 (GRCm39)	P13L	probably damaging	Het
Pde4d	T	A	13: 110,087,866 (GRCm39)	C744*	probably null	Het
Pelp1	T	C	11: 70,289,026 (GRCm39)	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Ptprk	A	G	10: 28,259,619 (GRCm39)	D353G	probably damaging	Het
Ptprs	A	G	17: 56,724,485 (GRCm39)	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rpn1	G	A	6: 88,067,282 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,131,074 (GRCm39)	D1409E	probably benign	Het
Sipa1l2	G	A	8: 126,200,323 (GRCm39)	H668Y	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,065,321 (GRCm39)	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,254,273 (GRCm39)	I212F	possibly damaging	Het
Snapc4	A	G	2: 26,255,440 (GRCm39)	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,262,068 (GRCm39)	T152I	possibly damaging	Het
Spata31f1a	T	C	4: 42,851,472 (GRCm39)	E228G	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Tex2	C	T	11: 106,437,566 (GRCm39)	W203*	probably null	Het
Tmcc1	T	C	6: 116,110,783 (GRCm39)	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttll6	A	G	11: 96,024,747 (GRCm39)	N46D	probably benign	Het
Txk	T	A	5: 72,865,078 (GRCm39)	K266*	probably null	Het
Uggt2	T	C	14: 119,278,930 (GRCm39)	E859G	probably damaging	Het
Uros	A	T	7: 133,304,120 (GRCm39)	M1K	probably null	Het
Vps13b	T	A	15: 35,671,528 (GRCm39)	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863 (GRCm39)		probably null	Het
Zfp760	A	G	17: 21,941,143 (GRCm39)	Y106C	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
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
R4723:Slc7a1	UTSW	5	148,272,250 (GRCm39)	missense	probably damaging	0.99
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'- AACTCTCATGCCTGTGGAGC -3'
(R):5'- TGTGTCCCAGGCACCTTAAC -3'

Sequencing Primer
(F):5'- TTCCCAGGAAAACGGGAGCTC -3'
(R):5'- CCTTTGAATGCACAGTGAGAACTCAG -3'

Posted On

2015-01-23