Mutagenetix > Incidental Mutation

Incidental Mutation 'R5651:Slc49a4'

441444

Institutional Source

Beutler Lab

Gene Symbol

Slc49a4

Ensembl Gene

ENSMUSG00000022848

Gene Name

solute carrier family 49 member 4

Synonyms

Dirc2, RCC4

MMRRC Submission

043297-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R5651 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35514432-35589726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35555986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 158 (A158V)

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: A158V

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: A158V

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	A	11: 48,910,700 (GRCm39)	H578Y	probably damaging	Het
Atp11b	A	G	3: 35,909,289 (GRCm39)	D1161G	probably damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
AY358078	T	A	14: 52,059,617 (GRCm39)	V318D	unknown	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Boc	T	A	16: 44,341,558 (GRCm39)	I16F	probably benign	Het
Brinp3	A	T	1: 146,577,537 (GRCm39)	T191S	probably benign	Het
Cald1	T	A	6: 34,739,255 (GRCm39)	N419K	probably damaging	Het
Cecr2	G	A	6: 120,732,521 (GRCm39)	G471D	probably damaging	Het
Cftr	T	A	6: 18,255,364 (GRCm39)		probably null	Het
Cyp2c38	T	A	19: 39,449,156 (GRCm39)	T66S	probably damaging	Het
Fbxo11	A	T	17: 88,323,136 (GRCm39)	D83E	probably benign	Het
Fshr	T	A	17: 89,293,257 (GRCm39)	M474L	possibly damaging	Het
Hhla1	T	A	15: 65,813,663 (GRCm39)	E223V	probably damaging	Het
Hnrnpa1	G	C	15: 103,148,955 (GRCm39)	E5D	possibly damaging	Het
Htr2a	T	A	14: 74,943,143 (GRCm39)	V241E	probably damaging	Het
Ier5	T	C	1: 154,974,491 (GRCm39)	E229G	possibly damaging	Het
Inka2	C	A	3: 105,623,748 (GRCm39)	Q22K	probably damaging	Het
Krt87	A	T	15: 101,331,910 (GRCm39)	M276K	possibly damaging	Het
Mast1	G	C	8: 85,655,597 (GRCm39)	Y182*	probably null	Het
Mia3	T	A	1: 183,139,998 (GRCm39)	D239V	probably damaging	Het
Mmut	T	A	17: 41,258,002 (GRCm39)	D389E	probably damaging	Het
Mpp7	A	G	18: 7,355,016 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,520,101 (GRCm39)	C739R	probably null	Het
Or13e8	C	G	4: 43,696,636 (GRCm39)	C179S	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or8k21	A	G	2: 86,144,784 (GRCm39)	I282T	probably benign	Het
Or9e1	A	T	11: 58,732,317 (GRCm39)	R126*	probably null	Het
Palld	A	T	8: 61,991,822 (GRCm39)	I510N	probably damaging	Het
Pappa	A	G	4: 65,074,589 (GRCm39)	E381G	probably damaging	Het
Phldb1	G	A	9: 44,623,200 (GRCm39)	T618I	probably damaging	Het
Pkd1	A	G	17: 24,810,361 (GRCm39)	E3631G	possibly damaging	Het
Pkhd1	C	T	1: 20,188,031 (GRCm39)	V3426I	probably benign	Het
Plk4	A	G	3: 40,767,940 (GRCm39)	T828A	probably benign	Het
Psmb5	C	T	14: 54,854,221 (GRCm39)	A86T	possibly damaging	Het
Rasal2	A	G	1: 156,984,951 (GRCm39)	V907A	probably damaging	Het
Rxra	C	T	2: 27,627,353 (GRCm39)	T24M	probably benign	Het
Senp1	A	G	15: 97,974,498 (GRCm39)	S105P	probably benign	Het
Sh3rf1	A	G	8: 61,816,201 (GRCm39)	D486G	probably damaging	Het
Slfn5	A	C	11: 82,851,490 (GRCm39)	N596H	probably benign	Het
Tanc2	T	A	11: 105,689,526 (GRCm39)	D229E	probably benign	Het
Taok2	T	C	7: 126,479,455 (GRCm39)	K57E	probably damaging	Het
Thsd7a	C	T	6: 12,343,212 (GRCm39)	C1135Y	probably damaging	Het
V1ra8	T	C	6: 90,180,508 (GRCm39)	L237P	probably benign	Het
Vcpip1	G	A	1: 9,818,065 (GRCm39)	T106M	probably damaging	Het
Vmn1r215	T	G	13: 23,259,981 (GRCm39)	I7S	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,279 (GRCm39)	M224L	probably benign	Het
Xpot	A	T	10: 121,440,454 (GRCm39)	D592E	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
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
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'- TCGGTCTTTAATATGAGCCCTG -3'
(R):5'- AGAAAGTCGGTCAGCTCACC -3'

Sequencing Primer
(F):5'- TACTCTCCGCAGCGAGAAG -3'
(R):5'- GGTCAGCTCACCTTTTCAGAATG -3'

Posted On

2016-11-08