Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Slc49a4'

590502

Institutional Source

Beutler Lab

Gene Symbol

Slc49a4

Ensembl Gene

ENSMUSG00000022848

Gene Name

solute carrier family 49 member 4

Synonyms

Dirc2, RCC4

MMRRC Submission

045701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35514432-35589726 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 35554438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023554 (fasta)

Gene Model

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

AlphaFold

Q8BFQ6

Predicted Effect

probably null
Transcript: ENSMUST00000023554

SMART Domains

Protein: ENSMUSP00000023554
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
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

Coding Region Coverage

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

Validation Efficiency

98% (46/47)

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
Actbl2	T	A	13: 111,392,789 (GRCm39)	C375S	probably benign	Het
Adgrg3	A	G	8: 95,761,392 (GRCm39)		probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Atg2b	T	C	12: 105,589,689 (GRCm39)	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,237,387 (GRCm39)	N290K	probably benign	Het
Ccdc39	T	C	3: 33,879,318 (GRCm39)		probably null	Het
Cnot10	T	C	9: 114,442,705 (GRCm39)	S501G	probably benign	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Coq2	A	C	5: 100,808,116 (GRCm39)	C228W	probably damaging	Het
Cpt2	A	T	4: 107,764,171 (GRCm39)	M531K	possibly damaging	Het
Dennd1a	A	G	2: 37,911,375 (GRCm39)	L204P	probably damaging	Het
Dock9	C	T	14: 121,835,075 (GRCm39)	V1305M	probably benign	Het
Dusp16	A	G	6: 134,702,888 (GRCm39)	I201T	probably damaging	Het
Esco2	T	C	14: 66,064,630 (GRCm39)	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037 (GRCm39)	S158P	probably damaging	Het
Fut10	A	G	8: 31,726,232 (GRCm39)	H329R	possibly damaging	Het
Gpr3	A	G	4: 132,938,640 (GRCm39)	W11R	probably damaging	Het
H2-M3	T	A	17: 37,581,620 (GRCm39)	I94N	probably damaging	Het
Krt7	T	C	15: 101,310,524 (GRCm39)	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,129,373 (GRCm39)		probably benign	Het
Ms4a6b	A	T	19: 11,501,304 (GRCm39)	T105S	probably damaging	Het
Muc6	T	C	7: 141,234,923 (GRCm39)	H592R	probably benign	Het
Ncam1	T	C	9: 49,476,303 (GRCm39)	E262G	probably benign	Het
Or4x11	T	A	2: 89,868,091 (GRCm39)	I276K	possibly damaging	Het
Or5b108	T	C	19: 13,168,937 (GRCm39)	V302A	probably benign	Het
Plxnb1	T	A	9: 108,943,480 (GRCm39)	S1908T	probably damaging	Het
Polg2	A	T	11: 106,666,419 (GRCm39)	M242K	probably benign	Het
Polr3g	T	C	13: 81,842,563 (GRCm39)	T151A	unknown	Het
Pramel51	T	C	12: 88,143,028 (GRCm39)	T392A	probably damaging	Het
Psmb8	T	C	17: 34,419,186 (GRCm39)	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,517,260 (GRCm39)	A176V	possibly damaging	Het
Rreb1	T	C	13: 38,115,010 (GRCm39)	C790R	probably damaging	Het
Rufy3	A	G	5: 88,788,476 (GRCm39)	T506A	probably benign	Het
Samd11	T	C	4: 156,340,243 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,029,450 (GRCm39)	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,183 (GRCm39)		probably benign	Het
Srgn	C	T	10: 62,330,757 (GRCm39)	W116*	probably null	Het
Svil	A	G	18: 5,099,663 (GRCm39)	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,119,742 (GRCm39)	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,969,182 (GRCm39)	K490M	probably damaging	Het
Tcte1	A	G	17: 45,845,915 (GRCm39)	N173S	probably benign	Het
Tmco6	C	T	18: 36,868,446 (GRCm39)	R31W	probably damaging	Het
Ttn	C	A	2: 76,730,025 (GRCm39)	A5155S	unknown	Het
Tyro3	T	C	2: 119,647,387 (GRCm39)	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,743,340 (GRCm39)	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,664,803 (GRCm39)	L554P	probably damaging	Het
Zfp352	C	T	4: 90,113,014 (GRCm39)	P385S	probably benign	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
R5717:Slc49a4	UTSW	16	35,539,799 (GRCm39)	missense	probably benign	0.00
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
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'- CTTGAACATTAAGAATCAGGGGTGG -3'
(R):5'- ATCTTTGTTCATAGCGCGCC -3'

Sequencing Primer
(F):5'- AGCCTGAGTTTGATCCCTGGAAC -3'
(R):5'- ATAGCGCGCCTCCTACTG -3'

Posted On

2019-10-24