Mutagenetix > Incidental Mutation

Incidental Mutation 'R7903:Slc7a4'

610115

Institutional Source

Beutler Lab

Gene Symbol

Slc7a4

Ensembl Gene

ENSMUSG00000022756

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 4

Synonyms

MMRRC Submission

045955-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

R7903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17389882-17394619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17393145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 218 (R218H)

Ref Sequence

ENSEMBL: ENSMUSP00000067243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000063544] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231283] [ENSMUST00000231552] [ENSMUST00000231615] [ENSMUST00000231645] [ENSMUST00000231806] [ENSMUST00000232186] [ENSMUST00000232226] [ENSMUST00000232336] [ENSMUST00000232385]

AlphaFold

Q8BLQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000023441

SMART Domains

Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
Pfam:P2X_receptor	25	385	7.9e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063544
AA Change: R218H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756
AA Change: R218H

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	37	436	1.4e-49	PFAM
Pfam:AA_permease	41	426	9.4e-38	PFAM
transmembrane domain	476	498	N/A	INTRINSIC
transmembrane domain	508	530	N/A	INTRINSIC
Pfam:AA_permease_C	540	590	1.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171002

SMART Domains

Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
Pfam:P2X_receptor	25	197	1e-65	PFAM
Pfam:P2X_receptor	185	362	7e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172164
AA Change: R218H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756
AA Change: R218H

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	37	498	2.6e-46	PFAM
Pfam:AA_permease	41	423	4.5e-36	PFAM
transmembrane domain	508	530	N/A	INTRINSIC
Pfam:AA_permease_C	540	590	1.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231283

Predicted Effect

probably benign
Transcript: ENSMUST00000231552

Predicted Effect

probably benign
Transcript: ENSMUST00000231615

Predicted Effect

probably benign
Transcript: ENSMUST00000231645

Predicted Effect

probably benign
Transcript: ENSMUST00000231806

Predicted Effect

probably benign
Transcript: ENSMUST00000232186

Predicted Effect

probably benign
Transcript: ENSMUST00000232226
AA Change: R218H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232336

Predicted Effect

probably benign
Transcript: ENSMUST00000232385

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	T	C	18: 24,608,783 (GRCm39)		probably null	Het
Acsm2	A	T	7: 119,195,215 (GRCm39)	T596S	probably benign	Het
Aggf1	T	C	13: 95,492,966 (GRCm39)	K548E	probably damaging	Het
Anapc15	T	G	7: 101,547,193 (GRCm39)	V23G	probably benign	Het
Atp10a	T	C	7: 58,308,570 (GRCm39)	L123P	probably damaging	Het
Brf2	G	A	8: 27,616,121 (GRCm39)	T88M	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc14	A	T	16: 34,525,280 (GRCm39)	H191L	probably damaging	Het
Cdc42bpg	T	A	19: 6,363,499 (GRCm39)	V453E	possibly damaging	Het
Corin	T	C	5: 72,458,843 (GRCm39)	K1110E	probably benign	Het
Cubn	T	C	2: 13,473,680 (GRCm39)	D421G	probably damaging	Het
D130043K22Rik	T	G	13: 25,059,995 (GRCm39)	V622G	probably damaging	Het
Ddb1	T	C	19: 10,585,712 (GRCm39)	V142A	probably benign	Het
Dnah3	A	G	7: 119,641,351 (GRCm39)	S1190P	probably damaging	Het
Eif4a3l2	A	G	6: 116,528,212 (GRCm39)	T30A	probably benign	Het
Elavl1	T	C	8: 4,351,756 (GRCm39)	K120R	probably benign	Het
Epb41l3	T	A	17: 69,581,332 (GRCm39)		probably null	Het
Fubp1	G	A	3: 151,920,498 (GRCm39)	W79*	probably null	Het
Gsto2	T	A	19: 47,873,096 (GRCm39)	I157N	possibly damaging	Het
Gucy2d	A	G	7: 98,108,272 (GRCm39)	D735G	probably damaging	Het
H2-D1	A	T	17: 35,482,967 (GRCm39)	I166F	probably damaging	Het
Hars2	C	A	18: 36,919,245 (GRCm39)	R128S	probably damaging	Het
Igf1r	T	C	7: 67,834,500 (GRCm39)	F496S	probably damaging	Het
Inf2	T	C	12: 112,578,988 (GRCm39)	V1256A	unknown	Het
Kif19b	T	C	5: 140,461,767 (GRCm39)	V523A	probably damaging	Het
Krt34	A	T	11: 99,932,321 (GRCm39)	M1K	probably null	Het
Lamtor2	T	C	3: 88,459,817 (GRCm39)	N26D	possibly damaging	Het
Map3k10	T	C	7: 27,357,382 (GRCm39)	T799A	probably damaging	Het
Map3k8	T	C	18: 4,349,162 (GRCm39)	D52G	probably benign	Het
Mcm10	T	C	2: 5,000,613 (GRCm39)	T693A	probably benign	Het
Mgarp	G	T	3: 51,304,119 (GRCm39)	A10E		Het
Mns1	A	T	9: 72,360,093 (GRCm39)	E414D	probably benign	Het
Myo16	A	G	8: 10,426,265 (GRCm39)	S341G	probably null	Het
Nags	A	T	11: 102,037,503 (GRCm39)	D198V	possibly damaging	Het
Nedd4l	C	T	18: 65,319,438 (GRCm39)	P464S	probably damaging	Het
Nicol1	T	A	5: 34,140,910 (GRCm39)		probably null	Het
Nsfl1c	T	C	2: 151,338,522 (GRCm39)	Y42H	probably damaging	Het
Obscn	T	C	11: 58,969,942 (GRCm39)	M67V	probably benign	Het
Or2b28	T	A	13: 21,532,046 (GRCm39)	I316K	probably benign	Het
Pcsk5	A	T	19: 17,549,847 (GRCm39)	L715Q	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pfkfb4	A	T	9: 108,828,019 (GRCm39)	N64Y	probably damaging	Het
Pidd1	A	G	7: 141,019,744 (GRCm39)	F673L	probably damaging	Het
Pla2g7	A	G	17: 43,911,512 (GRCm39)		probably null	Het
Pml	T	C	9: 58,156,867 (GRCm39)	E36G	probably benign	Het
Proser1	C	A	3: 53,386,503 (GRCm39)	S795*	probably null	Het
Ptprs	T	A	17: 56,731,960 (GRCm39)	K1016*	probably null	Het
Rbfox1	T	A	16: 7,042,375 (GRCm39)	S76R	probably benign	Het
Reck	A	T	4: 43,927,166 (GRCm39)	I486F	possibly damaging	Het
Rnf103	A	T	6: 71,486,138 (GRCm39)	K256N	probably damaging	Het
Setd2	A	T	9: 110,446,905 (GRCm39)	N713I		Het
Slc38a4	C	T	15: 96,906,809 (GRCm39)	G310S	probably benign	Het
Slc7a7	T	C	14: 54,611,366 (GRCm39)	H344R	probably damaging	Het
Smarcc1	G	A	9: 110,033,334 (GRCm39)	E810K	probably benign	Het
Sord	T	A	2: 122,093,706 (GRCm39)	M275K	probably benign	Het
Spire2	C	A	8: 124,095,489 (GRCm39)	P631T	probably benign	Het
Sult6b1	T	C	17: 79,198,279 (GRCm39)	K207R	probably benign	Het
Syde2	T	A	3: 145,704,543 (GRCm39)	D498E	probably damaging	Het
Syne2	C	T	12: 76,110,958 (GRCm39)	T1024M	probably damaging	Het
Tdrd9	T	A	12: 112,018,410 (GRCm39)	D1276E	possibly damaging	Het
Tm7sf2	A	G	19: 6,121,365 (GRCm39)	F219S	probably damaging	Het
Tmcc2	C	T	1: 132,288,199 (GRCm39)	G496D	probably benign	Het
Tmtc4	G	A	14: 123,165,060 (GRCm39)	H600Y	probably benign	Het
Vmn1r224	A	T	17: 20,640,309 (GRCm39)	L295F	probably benign	Het
Vmn1r91	T	C	7: 19,835,135 (GRCm39)	I18T	possibly damaging	Het
Vwa7	G	A	17: 35,236,763 (GRCm39)	R110H	probably damaging	Het
Wbp2nl	C	T	15: 82,190,332 (GRCm39)	Q87*	probably null	Het

Other mutations in Slc7a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02717:Slc7a4	APN	16	17,392,439 (GRCm39)	missense	possibly damaging	0.90
R0066:Slc7a4	UTSW	16	17,391,875 (GRCm39)	missense	probably benign	0.02
R0066:Slc7a4	UTSW	16	17,391,875 (GRCm39)	missense	probably benign	0.02
R0402:Slc7a4	UTSW	16	17,393,497 (GRCm39)	missense	probably damaging	1.00
R1426:Slc7a4	UTSW	16	17,391,808 (GRCm39)	critical splice donor site	probably null
R1926:Slc7a4	UTSW	16	17,393,568 (GRCm39)	missense	probably damaging	1.00
R2097:Slc7a4	UTSW	16	17,391,319 (GRCm39)	splice site	probably null
R2140:Slc7a4	UTSW	16	17,392,408 (GRCm39)	missense	possibly damaging	0.91
R4496:Slc7a4	UTSW	16	17,393,676 (GRCm39)	missense	probably damaging	1.00
R4548:Slc7a4	UTSW	16	17,393,209 (GRCm39)	missense	probably benign	0.01
R4570:Slc7a4	UTSW	16	17,392,141 (GRCm39)	missense	probably benign	0.00
R4631:Slc7a4	UTSW	16	17,392,255 (GRCm39)	missense	probably damaging	1.00
R4658:Slc7a4	UTSW	16	17,393,797 (GRCm39)	missense	probably damaging	1.00
R4825:Slc7a4	UTSW	16	17,392,385 (GRCm39)	missense	probably damaging	1.00
R5102:Slc7a4	UTSW	16	17,393,482 (GRCm39)	missense	probably damaging	1.00
R5364:Slc7a4	UTSW	16	17,391,227 (GRCm39)	missense	probably benign	0.33
R5650:Slc7a4	UTSW	16	17,393,548 (GRCm39)	missense	possibly damaging	0.94
R5666:Slc7a4	UTSW	16	17,393,815 (GRCm39)	utr 5 prime	probably benign
R5944:Slc7a4	UTSW	16	17,392,220 (GRCm39)	missense	possibly damaging	0.95
R6769:Slc7a4	UTSW	16	17,393,184 (GRCm39)	missense	possibly damaging	0.72
R7381:Slc7a4	UTSW	16	17,392,920 (GRCm39)	missense	probably damaging	0.99
R7470:Slc7a4	UTSW	16	17,392,977 (GRCm39)	missense	probably benign	0.07
R7922:Slc7a4	UTSW	16	17,391,230 (GRCm39)	missense	probably benign	0.36
R8003:Slc7a4	UTSW	16	17,392,315 (GRCm39)	missense	possibly damaging	0.94
R9300:Slc7a4	UTSW	16	17,392,399 (GRCm39)	missense	probably benign	0.22
R9452:Slc7a4	UTSW	16	17,391,271 (GRCm39)	missense	probably damaging	0.98
R9569:Slc7a4	UTSW	16	17,393,262 (GRCm39)	missense
R9674:Slc7a4	UTSW	16	17,392,208 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAATATAGGCACCAGCTGC -3'
(R):5'- CAACTTCACGGAGTCTCACC -3'

Sequencing Primer
(F):5'- CTGCCAGGCTGAGGGAGATG -3'
(R):5'- AGTCTCACCTGGGCGTCTG -3'

Posted On

2019-12-20