Mutagenetix > Incidental Mutation

Incidental Mutation 'R4657:Slc7a1'

352513

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

041917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4657 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148264220-148336714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148289209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 13 (M13L)

Ref Sequence

ENSEMBL: ENSMUSP00000122914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048116] [ENSMUST00000138257] [ENSMUST00000138596] [ENSMUST00000202457]

AlphaFold

Q09143

Predicted Effect

probably benign
Transcript: ENSMUST00000048116
AA Change: M13L

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

SMART Domains

Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: M13L

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: M13L

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

SMART Domains

Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: M13L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138596
AA Change: M13L

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

SMART Domains

Protein: ENSMUSP00000122914
Gene: ENSMUSG00000041313
AA Change: M13L

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202457

SMART Domains

Protein: ENSMUSP00000144000
Gene: ENSMUSG00000041313

Domain	Start	End	E-Value	Type
Pfam:AA_permease	6	142	7.5e-14	PFAM
Pfam:AA_permease_2	11	142	2.7e-16	PFAM

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,904,304 (GRCm39)	V264E	possibly damaging	Het
Abcg1	T	A	17: 31,327,408 (GRCm39)	W368R	probably benign	Het
Acin1	A	G	14: 54,880,504 (GRCm39)	I476T	possibly damaging	Het
Acsm1	T	A	7: 119,239,917 (GRCm39)	I287N	possibly damaging	Het
Adgrv1	C	T	13: 81,553,483 (GRCm39)	V5464I	probably benign	Het
AI429214	T	A	8: 37,461,545 (GRCm39)	L231Q	probably damaging	Het
Akp3	A	G	1: 87,053,556 (GRCm39)		probably benign	Het
Amy2b	C	T	3: 113,060,793 (GRCm39)		noncoding transcript	Het
Apoa5	A	G	9: 46,181,170 (GRCm39)	Q82R	probably benign	Het
Arhgap44	A	G	11: 64,896,278 (GRCm39)		probably null	Het
Arhgef38	C	A	3: 132,940,442 (GRCm39)	G48V	probably damaging	Het
Bltp3a	T	A	17: 28,109,079 (GRCm39)	F1099L	probably benign	Het
Bod1l	G	T	5: 41,975,955 (GRCm39)	N1786K	probably benign	Het
Cav2	A	T	6: 17,281,409 (GRCm39)	D17V	probably null	Het
Ccdc148	G	T	2: 58,891,900 (GRCm39)	N238K	probably benign	Het
Ccin	A	T	4: 43,984,981 (GRCm39)	I463F	probably damaging	Het
Cd8b1	C	T	6: 71,306,758 (GRCm39)	H162Y	possibly damaging	Het
Cdh16	T	A	8: 105,341,858 (GRCm39)		probably null	Het
Cfap65	T	A	1: 74,964,513 (GRCm39)		probably benign	Het
Clec4n	T	C	6: 123,209,155 (GRCm39)		probably null	Het
Cpne7	T	A	8: 123,861,314 (GRCm39)	*558R	probably null	Het
Cs	A	G	10: 128,189,006 (GRCm39)	I172V	probably benign	Het
Cyp2ab1	A	T	16: 20,131,822 (GRCm39)	L306Q	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,814 (GRCm39)	V98E	probably damaging	Het
Dcaf15	A	C	8: 84,829,467 (GRCm39)	S92A	probably damaging	Het
Dkk3	T	C	7: 111,748,253 (GRCm39)		probably null	Het
Dnah11	A	T	12: 118,156,162 (GRCm39)	C163S	probably benign	Het
Eda2r	T	A	X: 96,385,239 (GRCm39)	Q171L	probably damaging	Het
Eml4	A	T	17: 83,758,377 (GRCm39)	K397*	probably null	Het
Eml6	A	T	11: 29,755,108 (GRCm39)	I889N	possibly damaging	Het
Etaa1	A	T	11: 17,896,964 (GRCm39)	D384E	possibly damaging	Het
Fzr1	T	A	10: 81,203,386 (GRCm39)		probably null	Het
Gm13889	G	T	2: 93,786,921 (GRCm39)	F61L	probably damaging	Het
Gm14149	A	T	2: 151,072,684 (GRCm39)		noncoding transcript	Het
Gm5828	T	A	1: 16,839,642 (GRCm39)		noncoding transcript	Het
Gm5866	G	A	5: 52,740,262 (GRCm39)		noncoding transcript	Het
Gp2	T	C	7: 119,056,391 (GRCm39)	I27M	probably benign	Het
Gpr83	G	A	9: 14,778,279 (GRCm39)		probably null	Het
Gucd1	T	C	10: 75,346,959 (GRCm39)	N97S	probably benign	Het
H2bc27	C	T	11: 58,839,797 (GRCm39)	P11L	probably benign	Het
H2-Q7	T	A	17: 35,661,735 (GRCm39)	V326E	possibly damaging	Het
Haao	A	T	17: 84,139,774 (GRCm39)	D227E	possibly damaging	Het
Hipk3	C	T	2: 104,264,104 (GRCm39)	S819N	probably benign	Het
Hlcs	A	G	16: 94,063,557 (GRCm39)	V501A	probably benign	Het
Hmcn1	A	G	1: 150,500,301 (GRCm39)	Y3964H	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifi211	A	G	1: 173,735,226 (GRCm39)	F68L	probably benign	Het
Ift57	A	G	16: 49,582,957 (GRCm39)		probably null	Het
Ighv5-12-4	A	T	12: 113,725,887 (GRCm39)	L112*	probably null	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il36a	T	A	2: 24,114,416 (GRCm39)	M97K	possibly damaging	Het
Itsn2	A	G	12: 4,763,197 (GRCm39)	*1686W	probably null	Het
Jkamp	G	T	12: 72,140,823 (GRCm39)	V123F	probably damaging	Het
Kat7	C	A	11: 95,168,424 (GRCm39)	V411L	probably damaging	Het
Kcnj5	A	G	9: 32,233,973 (GRCm39)	V114A	probably benign	Het
Krtap5-4	T	A	7: 141,857,491 (GRCm39)	C54S	unknown	Het
Lats1	T	A	10: 7,581,448 (GRCm39)	N744K	possibly damaging	Het
Lpo	T	C	11: 87,705,173 (GRCm39)	E387G	probably damaging	Het
Lrba	T	G	3: 86,644,471 (GRCm39)	M388R	probably damaging	Het
Lrp2	C	A	2: 69,297,337 (GRCm39)	R3208L	probably damaging	Het
Mterf1b	T	A	5: 4,247,176 (GRCm39)	C272*	probably null	Het
Myh15	A	T	16: 48,992,421 (GRCm39)	R1632*	probably null	Het
Myo3b	T	C	2: 70,069,243 (GRCm39)	V494A	possibly damaging	Het
Myo9a	T	C	9: 59,782,699 (GRCm39)		probably null	Het
Nelfa	T	G	5: 34,059,157 (GRCm39)	S233R	probably benign	Het
Nr4a3	A	T	4: 48,051,522 (GRCm39)	E121V	probably damaging	Het
Obscn	T	A	11: 58,933,116 (GRCm39)	E5406D	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or1j18	T	A	2: 36,624,415 (GRCm39)	Y27*	probably null	Het
Or7e177	A	C	9: 20,211,919 (GRCm39)	H142P	probably damaging	Het
Oxct2b	T	C	4: 123,010,926 (GRCm39)	L282P	probably damaging	Het
Pappa	G	A	4: 65,233,033 (GRCm39)		probably null	Het
Pcdhb14	A	G	18: 37,581,900 (GRCm39)	I335M	possibly damaging	Het
Pcsk1	T	A	13: 75,280,354 (GRCm39)	D726E	probably damaging	Het
Pkhd1	T	A	1: 20,434,391 (GRCm39)	Q2349L	possibly damaging	Het
Pkhd1l1	G	A	15: 44,410,743 (GRCm39)	C2750Y	probably damaging	Het
Ppp2r3d	A	G	9: 124,476,821 (GRCm38)	C26R	unknown	Het
Prex2	T	A	1: 11,136,049 (GRCm39)	I74N	probably benign	Het
Ptgir	A	G	7: 16,641,071 (GRCm39)	D121G	probably benign	Het
Pwwp3a	T	A	10: 80,068,848 (GRCm39)	C331S	probably benign	Het
Ralbp1	T	C	17: 66,159,686 (GRCm39)	S526G	probably null	Het
Ric8b	T	C	10: 84,828,001 (GRCm39)	Y442H	probably damaging	Het
Rpap1	C	T	2: 119,605,487 (GRCm39)	D385N	probably benign	Het
Sash1	T	C	10: 8,601,424 (GRCm39)	Y1177C	probably damaging	Het
Shroom1	T	C	11: 53,356,415 (GRCm39)	I363T	possibly damaging	Het
Slc26a9	T	C	1: 131,680,876 (GRCm39)	L95P	probably damaging	Het
Slc44a5	A	G	3: 153,962,221 (GRCm39)	T385A	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Snrpb2	A	G	2: 142,912,893 (GRCm39)	N172S	possibly damaging	Het
Spns1	G	T	7: 125,973,474 (GRCm39)		probably benign	Het
Srsf6	T	A	2: 162,775,347 (GRCm39)	S86R	probably benign	Het
Stk25	A	T	1: 93,553,378 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,254,866 (GRCm39)	C275S	probably benign	Het
Tcp10b	T	A	17: 13,292,504 (GRCm39)		probably null	Het
Tmem248	T	A	5: 130,260,615 (GRCm39)	L60H	probably damaging	Het
Trim27	T	C	13: 21,367,930 (GRCm39)	I182T	probably damaging	Het
Tspan10	A	G	11: 120,335,324 (GRCm39)	N145D	probably damaging	Het
Vps13d	A	G	4: 144,801,412 (GRCm39)	F487S	probably damaging	Het
Wdr86	A	T	5: 24,923,229 (GRCm39)	D154E	probably benign	Het
Wfdc18	C	A	11: 83,600,695 (GRCm39)	A32D	possibly damaging	Het
Wrn	A	T	8: 33,826,019 (GRCm39)		probably null	Het
Zfp811	C	A	17: 33,019,897 (GRCm39)	E7*	probably null	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
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'- TCACGTAGCTGTAGAGGTAGG -3'
(R):5'- TGCTGCTGAATGCGTCAATG -3'

Sequencing Primer
(F):5'- AACTCGCCGTAGCACAGG -3'
(R):5'- GCGTCAATGGAAATATTTTAGCAG -3'

Posted On

2015-10-08