Mutagenetix > Incidental Mutation

Incidental Mutation 'R5717:Slc49a4'

451239

Institutional Source

Beutler Lab

Gene Symbol

Slc49a4

Ensembl Gene

ENSMUSG00000022848

Gene Name

solute carrier family 49 member 4

Synonyms

Dirc2, RCC4

MMRRC Submission

043337-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R5717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35514432-35589726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35539799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 341 (F341L)

Ref Sequence

ENSEMBL: ENSMUSP00000023554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023554] [ENSMUST00000149892]

AlphaFold

Q8BFQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000023554
AA Change: F341L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: F341L

Domain	Start	End	E-Value	Type
low complexity region	8	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
transmembrane domain	90	111	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
transmembrane domain	231	250	N/A	INTRINSIC
low complexity region	251	258	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
transmembrane domain	344	366	N/A	INTRINSIC
transmembrane domain	381	403	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	441	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149892

SMART Domains

Protein: ENSMUSP00000120775
Gene: ENSMUSG00000022848

Domain	Start	End	E-Value	Type
low complexity region	8	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
transmembrane domain	90	111	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157168

Meta Mutation Damage Score

0.0788

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	A	T	19: 42,041,484 (GRCm39)	H205L	probably benign	Het
Acss2	T	C	2: 155,403,073 (GRCm39)	L617S	probably damaging	Het
Adgrl4	T	C	3: 151,197,971 (GRCm39)	V77A	probably benign	Het
Adnp2	A	G	18: 80,171,479 (GRCm39)	S977P	probably benign	Het
Ankrd11	T	C	8: 123,619,377 (GRCm39)	K1492E	possibly damaging	Het
B4galt5	G	A	2: 167,148,549 (GRCm39)	R190C	probably damaging	Het
Bbs1	A	G	19: 4,947,354 (GRCm39)	V355A	possibly damaging	Het
Cenpj	GTTTT	GTTTTT	14: 56,790,978 (GRCm39)		probably null	Het
Ckap2	T	C	8: 22,665,063 (GRCm39)	E467G	probably damaging	Het
Cry1	A	T	10: 84,982,280 (GRCm39)	H355Q	probably damaging	Het
Cspg4	G	T	9: 56,793,082 (GRCm39)	M272I	probably benign	Het
Dicer1	T	A	12: 104,671,387 (GRCm39)	Y961F	probably damaging	Het
Epha2	A	T	4: 141,049,382 (GRCm39)	M689L	probably benign	Het
Foxc1	C	T	13: 31,991,471 (GRCm39)	A94V	probably benign	Het
Fras1	T	C	5: 96,929,596 (GRCm39)	V4000A	possibly damaging	Het
Frmd8	G	T	19: 5,923,396 (GRCm39)		probably benign	Het
Gm5218	A	G	15: 81,383,478 (GRCm39)		noncoding transcript	Het
Gm7735	T	C	16: 88,966,430 (GRCm39)	L18P	unknown	Het
Hr	C	T	14: 70,803,616 (GRCm39)	T808I	probably benign	Het
Hyal6	T	C	6: 24,743,690 (GRCm39)	M462T	probably benign	Het
Igkv6-20	T	A	6: 70,313,412 (GRCm39)		probably benign	Het
Igkv8-27	T	A	6: 70,148,918 (GRCm39)	T59S	probably benign	Het
Itga11	A	G	9: 62,659,531 (GRCm39)	T428A	probably benign	Het
Klk1b16	A	G	7: 43,788,913 (GRCm39)	I49V	probably benign	Het
Matn2	G	T	15: 34,399,237 (GRCm39)	E375*	probably null	Het
Msgn1	T	C	12: 11,258,519 (GRCm39)	Y144C	probably damaging	Het
Myh1	A	G	11: 67,099,782 (GRCm39)	N564S	probably benign	Het
Mypn	A	G	10: 62,963,555 (GRCm39)	V972A	probably damaging	Het
Or4c29	T	C	2: 88,740,366 (GRCm39)	I124V	possibly damaging	Het
Or5an11	A	G	19: 12,246,520 (GRCm39)	K309E	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Ppp2r5d	A	G	17: 46,998,820 (GRCm39)	S81P	probably damaging	Het
Ptgis	C	T	2: 167,050,284 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,018 (GRCm39)	N25S	probably benign	Het
Rnf123	G	A	9: 107,944,623 (GRCm39)	T456I	probably damaging	Het
Rpl6l	T	C	10: 110,961,884 (GRCm39)		noncoding transcript	Het
Rps25	A	G	9: 44,320,047 (GRCm39)	Y23C	probably benign	Het
Sec24a	A	G	11: 51,598,037 (GRCm39)	V879A	probably benign	Het
Sema6a	G	A	18: 47,382,330 (GRCm39)	A739V	probably benign	Het
Senp6	A	T	9: 79,999,594 (GRCm39)	I4F	probably damaging	Het
Stoml3	A	T	3: 53,412,937 (GRCm39)	Q197L	probably damaging	Het
Ttn	T	A	2: 76,578,091 (GRCm39)	K24267N	probably damaging	Het
Vmn1r43	T	C	6: 89,846,905 (GRCm39)	S194G	probably damaging	Het
Vmn2r17	C	T	5: 109,575,140 (GRCm39)	T149I	possibly damaging	Het
Wdr72	T	A	9: 74,055,487 (GRCm39)	Y239N	probably damaging	Het
Zfp423	A	T	8: 88,413,187 (GRCm39)		probably null	Het
Zfp759	T	A	13: 67,286,772 (GRCm39)	C114S	probably damaging	Het

Other mutations in Slc49a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02505:Slc49a4	APN	16	35,555,928 (GRCm39)	missense	probably benign	0.01
IGL02990:Slc49a4	APN	16	35,555,861 (GRCm39)	missense	possibly damaging	0.68
R0166:Slc49a4	UTSW	16	35,539,684 (GRCm39)	missense	possibly damaging	0.49
R0319:Slc49a4	UTSW	16	35,570,884 (GRCm39)	missense	probably benign	0.01
R0323:Slc49a4	UTSW	16	35,539,730 (GRCm39)	frame shift	probably null
R0497:Slc49a4	UTSW	16	35,555,974 (GRCm39)	missense	probably benign	0.40
R1240:Slc49a4	UTSW	16	35,518,379 (GRCm39)	missense	probably benign	0.00
R1460:Slc49a4	UTSW	16	35,539,736 (GRCm39)	missense	probably benign	0.25
R2115:Slc49a4	UTSW	16	35,518,309 (GRCm39)	missense	probably benign	0.17
R4502:Slc49a4	UTSW	16	35,539,787 (GRCm39)	missense	probably benign	0.00
R4503:Slc49a4	UTSW	16	35,539,787 (GRCm39)	missense	probably benign	0.00
R4563:Slc49a4	UTSW	16	35,518,312 (GRCm39)	missense	probably damaging	1.00
R4834:Slc49a4	UTSW	16	35,555,945 (GRCm39)	missense	probably benign	0.08
R5278:Slc49a4	UTSW	16	35,518,358 (GRCm39)	missense	probably damaging	1.00
R5651:Slc49a4	UTSW	16	35,555,986 (GRCm39)	missense	probably benign	0.25
R5947:Slc49a4	UTSW	16	35,550,676 (GRCm39)	missense	probably benign	0.14
R6176:Slc49a4	UTSW	16	35,525,167 (GRCm39)	missense	probably benign
R7155:Slc49a4	UTSW	16	35,555,947 (GRCm39)	missense	probably benign	0.02
R7450:Slc49a4	UTSW	16	35,589,344 (GRCm39)	missense	possibly damaging	0.76
R7645:Slc49a4	UTSW	16	35,554,438 (GRCm39)	critical splice acceptor site	probably null
R7905:Slc49a4	UTSW	16	35,589,320 (GRCm39)	missense	probably benign	0.33
R8425:Slc49a4	UTSW	16	35,555,967 (GRCm39)	missense	probably benign	0.01
R8670:Slc49a4	UTSW	16	35,556,005 (GRCm39)	missense	possibly damaging	0.76
R8827:Slc49a4	UTSW	16	35,554,320 (GRCm39)	missense	probably benign	0.01
R9022:Slc49a4	UTSW	16	35,570,912 (GRCm39)	missense	probably benign	0.00
R9421:Slc49a4	UTSW	16	35,518,372 (GRCm39)	missense
R9779:Slc49a4	UTSW	16	35,543,186 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- ACGTACTTTCCTGTGAACTGAAAGC -3'
(R):5'- TCTGTGAGCTGTAGACTCCAAAC -3'

Sequencing Primer
(F):5'- CTGTGAACTGAAAGCCTTTACC -3'
(R):5'- TAGACTCCAAACAGTTTATAAGAGGG -3'

Posted On

2017-01-03