Mutagenetix > Incidental Mutation

Incidental Mutation 'R9421:Slc49a4'

712350

Institutional Source

Beutler Lab

Gene Symbol

Slc49a4

Ensembl Gene

ENSMUSG00000022848

Gene Name

solute carrier family 49 member 4

Synonyms

Dirc2, RCC4

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R9421 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35514432-35589726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35518372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 447 (W447L)

Ref Sequence

ENSEMBL: ENSMUSP00000023554 (fasta)

Gene Model

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

AlphaFold

Q8BFQ6

Predicted Effect

SMART Domains

Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: W447L

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	A	11: 58,177,451 (GRCm39)	N53K		Het
Alpk1	C	T	3: 127,467,069 (GRCm39)	R1070Q	probably damaging	Het
AU018091	T	C	7: 3,208,085 (GRCm39)	I541V	probably benign	Het
B3galt2	A	T	1: 143,522,364 (GRCm39)	R167*	probably null	Het
Bltp3a	A	T	17: 28,095,660 (GRCm39)	D23V	probably damaging	Het
Cabin1	A	G	10: 75,493,658 (GRCm39)	L1660S	probably damaging	Het
Card11	A	T	5: 140,869,462 (GRCm39)	I778N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cpne3	A	T	4: 19,536,561 (GRCm39)	M233K	probably benign	Het
Cxcl13	T	A	5: 96,107,789 (GRCm39)	W82R	probably damaging	Het
Dock10	T	A	1: 80,501,509 (GRCm39)	Y1848F	probably damaging	Het
Ednra	G	A	8: 78,391,681 (GRCm39)	T403M	probably damaging	Het
Fbl	A	G	7: 27,875,439 (GRCm39)	I186V	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gorasp2	T	C	2: 70,509,867 (GRCm39)	V176A	probably damaging	Het
Gpr151	T	C	18: 42,712,220 (GRCm39)	I153V	probably benign	Het
Kat6a	C	T	8: 23,398,322 (GRCm39)	L297F	probably damaging	Het
Kcnq4	T	A	4: 120,573,868 (GRCm39)	I198F	possibly damaging	Het
Kdm7a	A	G	6: 39,129,763 (GRCm39)	V471A	possibly damaging	Het
Ltn1	A	T	16: 87,215,375 (GRCm39)	M420K	possibly damaging	Het
Lypd6b	A	G	2: 49,832,552 (GRCm39)	E39G	probably benign	Het
Man2b2	T	C	5: 36,978,271 (GRCm39)	T338A	probably benign	Het
Mcm7	T	C	5: 138,165,477 (GRCm39)	T476A	possibly damaging	Het
Or1e30	T	A	11: 73,677,927 (GRCm39)	H54Q	probably benign	Het
Or2y10	G	T	11: 49,455,201 (GRCm39)	G151V	probably benign	Het
Or51h5	T	A	7: 102,577,711 (GRCm39)	I292K	probably damaging	Het
Pdzd2	A	T	15: 12,375,114 (GRCm39)	F1674I		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pilrb1	A	G	5: 137,853,296 (GRCm39)	V169A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rsf1	GC	GCGGCGGCGAC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Stxbp2	T	C	8: 3,682,264 (GRCm39)	W27R		Het
Tle6	G	A	10: 81,429,868 (GRCm39)	T410M		Het
Ttyh2	C	G	11: 114,587,633 (GRCm39)	Y211*	probably null	Het
Ubap2l	T	A	3: 89,955,108 (GRCm39)	Q20L	possibly damaging	Het
Usp19	T	C	9: 108,376,792 (GRCm39)	Y1122H	probably damaging	Het
Zcchc2	G	T	1: 105,950,987 (GRCm39)	V574L	probably benign	Het
Zfp532	G	A	18: 65,757,308 (GRCm39)	V414I	probably benign	Het
Zfp616	A	C	11: 73,974,331 (GRCm39)	N291T	possibly damaging	Het
Zfp820	A	T	17: 22,038,336 (GRCm39)	C331S	probably benign	Het
Zfp94	G	A	7: 24,002,978 (GRCm39)	R155*	probably null	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
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
R9779:Slc49a4	UTSW	16	35,543,186 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GTGCTGTCCACAGAGTTTTCAC -3'
(R):5'- TGAAAATCTGGTAATACCTCACACC -3'

Sequencing Primer
(F):5'- ACAGAGTTTTCACATCCTCACG -3'
(R):5'- GGTAATACCTCACACCCACCACTTAG -3'

Posted On

2022-05-16