Mutagenetix > Incidental Mutation

Incidental Mutation 'R9314:Slc7a1'

705767

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9314 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148264220-148336714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148269327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 598 (I598V)

Ref Sequence

ENSEMBL: ENSMUSP00000046714 (fasta)

Gene Model

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

AlphaFold

Q09143

Predicted Effect

probably benign
Transcript: ENSMUST00000048116
AA Change: I598V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: I598V

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

SMART Domains

Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,547,593 (GRCm39)	N260K	possibly damaging	Het
Anapc1	G	A	2: 128,464,420 (GRCm39)	S1692L	possibly damaging	Het
Brca2	A	G	5: 150,474,359 (GRCm39)	R2421G	probably damaging	Het
Cad	A	G	5: 31,234,988 (GRCm39)	Y2143C	probably damaging	Het
Calr3	T	A	8: 73,178,535 (GRCm39)	D356V	possibly damaging	Het
Cd207	T	A	6: 83,652,699 (GRCm39)	T144S	probably damaging	Het
Cntln	T	C	4: 84,924,719 (GRCm39)	L608P	probably damaging	Het
Dnah8	A	T	17: 30,990,857 (GRCm39)	Y3300F	probably benign	Het
Emb	T	C	13: 117,408,604 (GRCm39)	I315T	probably damaging	Het
Esr1	T	A	10: 4,916,181 (GRCm39)	V456E	possibly damaging	Het
Evpl	A	T	11: 116,118,503 (GRCm39)	H701Q	probably benign	Het
F5	C	T	1: 164,029,146 (GRCm39)	T1715I	probably benign	Het
Fut10	T	A	8: 31,691,504 (GRCm39)	H116Q	probably damaging	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,447 (GRCm39)		probably benign	Het
Gm5591	T	C	7: 38,221,884 (GRCm39)	T62A	probably benign	Het
Hectd4	T	C	5: 121,437,708 (GRCm39)		probably null	Het
Ifit1bl1	G	C	19: 34,576,693 (GRCm39)	Q3E	probably benign	Het
Ighg3	A	T	12: 113,323,946 (GRCm39)	D147E		Het
Ighv8-13	A	G	12: 115,728,996 (GRCm39)	V87A	possibly damaging	Het
Kdelr1	A	G	7: 45,531,050 (GRCm39)	T160A	probably benign	Het
Kdm2a	A	G	19: 4,372,510 (GRCm39)	L945P	probably damaging	Het
Krt36	C	T	11: 99,994,227 (GRCm39)	W283*	probably null	Het
Lamp3	T	C	16: 19,492,192 (GRCm39)	M351V	probably benign	Het
Lox	C	G	18: 52,653,911 (GRCm39)	R395P	probably damaging	Het
Lrrtm3	T	C	10: 63,925,499 (GRCm39)		probably benign	Het
Madcam1	C	A	10: 79,501,481 (GRCm39)	T182K	probably damaging	Het
Megf8	T	A	7: 25,029,297 (GRCm39)	H280Q	probably damaging	Het
Mrgprb5	A	G	7: 47,818,174 (GRCm39)	I187T	probably benign	Het
Muc1	T	C	3: 89,138,825 (GRCm39)	V478A	probably damaging	Het
Mug1	T	G	6: 121,834,296 (GRCm39)	V359G	probably damaging	Het
Myh4	A	G	11: 67,151,141 (GRCm39)	H1932R	probably benign	Het
Naaladl1	A	C	19: 6,162,401 (GRCm39)	N448H	probably damaging	Het
Or52b1	A	T	7: 104,979,081 (GRCm39)	I106N	probably damaging	Het
Or5a1	C	T	19: 12,097,144 (GRCm39)	E311K	probably benign	Het
Pkd1l1	A	T	11: 8,829,153 (GRCm39)	Y1480N		Het
Poll	T	C	19: 45,547,091 (GRCm39)	E127G	probably benign	Het
Ppl	T	C	16: 4,922,367 (GRCm39)	N305S	possibly damaging	Het
Prss53	A	G	7: 127,490,039 (GRCm39)	V17A	probably benign	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef4	A	T	2: 72,064,983 (GRCm39)	H804L	possibly damaging	Het
Rassf8	A	G	6: 145,762,296 (GRCm39)	T356A	probably damaging	Het
Rptor	T	C	11: 119,786,772 (GRCm39)	S1246P	probably benign	Het
Setdb2	A	T	14: 59,650,240 (GRCm39)	I458N	probably benign	Het
Sgtb	A	G	13: 104,254,933 (GRCm39)	K68E	possibly damaging	Het
Slc19a3	T	G	1: 83,000,094 (GRCm39)	I308L	possibly damaging	Het
Slc22a5	T	C	11: 53,762,487 (GRCm39)	D320G	possibly damaging	Het
Slc34a2	T	C	5: 53,218,143 (GRCm39)	S141P	possibly damaging	Het
Slc37a2	T	C	9: 37,150,482 (GRCm39)	T158A	possibly damaging	Het
Sphk2	T	C	7: 45,361,158 (GRCm39)	D282G	probably damaging	Het
Spty2d1	G	T	7: 46,648,486 (GRCm39)	P148T	probably damaging	Het
Supt3	A	G	17: 45,352,250 (GRCm39)	T310A	probably benign	Het
Supt5	T	A	7: 28,019,799 (GRCm39)	D457V	probably damaging	Het
Svep1	C	T	4: 58,070,347 (GRCm39)	G2480R	probably damaging	Het
Tbcd	T	C	11: 121,487,297 (GRCm39)	V803A	probably benign	Het
Tex2	A	T	11: 106,435,075 (GRCm39)	C784S	unknown	Het
Thrb	A	G	14: 17,963,208 (GRCm38)	H57R	probably benign	Het
Tmc4	T	C	7: 3,679,723 (GRCm39)	T34A	possibly damaging	Het
Tmprss2	T	C	16: 97,400,459 (GRCm39)	N4S	probably benign	Het
Trank1	A	G	9: 111,195,049 (GRCm39)	I1024M	probably damaging	Het
Trnau1ap	C	A	4: 132,056,697 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,566,710 (GRCm39)	V28061A	probably damaging	Het
Txnl4b	C	A	8: 110,299,331 (GRCm39)	P97Q	probably benign	Het
Ube4a	T	C	9: 44,854,023 (GRCm39)	T573A	probably benign	Het
Vit	A	T	17: 78,927,044 (GRCm39)	T330S	probably benign	Het
Wdr3	T	C	3: 100,050,288 (GRCm39)	I750V	probably benign	Het
Zfp59	C	T	7: 27,554,029 (GRCm39)	L494F	possibly 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
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
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'- ACTGTCCAGAAATGACCAGGATC -3'
(R):5'- GCAAGCAGGACAGTGACTTTG -3'

Sequencing Primer
(F):5'- CAAACCAGCTTTGGTGACATTGG -3'
(R):5'- CAGGACAGTGACTTTGGCTAATCC -3'

Posted On

2022-03-25