Mutagenetix > Incidental Mutation

Incidental Mutation 'R5424:Slc51a'

426781

Institutional Source

Beutler Lab

Gene Symbol

Slc51a

Ensembl Gene

ENSMUSG00000035699

Gene Name

solute carrier family 51, alpha subunit

Synonyms

Osta, OSTalpha, D630035O19Rik

MMRRC Submission

042990-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R5424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32294396-32306697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32297565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 111 (A111S)

Ref Sequence

ENSEMBL: ENSMUSP00000046286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042042] [ENSMUST00000079791] [ENSMUST00000115137] [ENSMUST00000231690]

AlphaFold

Q8R000

Predicted Effect

probably benign
Transcript: ENSMUST00000042042
AA Change: A111S

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046286
Gene: ENSMUSG00000035699
AA Change: A111S

Domain	Start	End	E-Value	Type
Pfam:Solute_trans_a	53	321	2.7e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079791

SMART Domains

Protein: ENSMUSP00000078721
Gene: ENSMUSG00000005615

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	80	208	6.4e-24	PFAM
low complexity region	244	262	N/A	INTRINSIC
low complexity region	328	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115137

SMART Domains

Protein: ENSMUSP00000110790
Gene: ENSMUSG00000005615

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	80	201	4.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232418

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	A	1: 130,670,678 (GRCm39)	A300D	probably damaging	Het
Abca14	T	C	7: 119,810,777 (GRCm39)	Y119H	probably benign	Het
Actb	A	G	5: 142,891,306 (GRCm39)		probably benign	Het
Ada	T	A	2: 163,570,045 (GRCm39)	K323*	probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Aire	A	T	10: 77,872,553 (GRCm39)	V355E	probably damaging	Het
Atp8a1	T	C	5: 67,969,443 (GRCm39)	I117M	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Clca3a2	A	G	3: 144,789,942 (GRCm39)	F465L	probably damaging	Het
Cpne8	T	A	15: 90,400,260 (GRCm39)	M345L	probably benign	Het
Ddx54	T	C	5: 120,757,926 (GRCm39)		probably null	Het
Dnah14	T	G	1: 181,590,875 (GRCm39)	M3256R	possibly damaging	Het
Epha2	T	A	4: 141,046,251 (GRCm39)	Y483*	probably null	Het
Ermard	T	A	17: 15,280,032 (GRCm39)	S509T	possibly damaging	Het
Fam186a	G	T	15: 99,843,644 (GRCm39)	H867N	unknown	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gas8	C	A	8: 124,253,251 (GRCm39)	L200I	possibly damaging	Het
Gfra2	A	T	14: 71,133,287 (GRCm39)	D39V	probably damaging	Het
Gm10770	T	C	2: 150,020,948 (GRCm39)	T190A	probably benign	Het
Gm2617	T	C	19: 9,301,320 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,805,017 (GRCm39)		probably benign	Het
Gmppb	T	A	9: 107,929,204 (GRCm39)		probably null	Het
Ifit2	T	A	19: 34,551,458 (GRCm39)	C333S	probably benign	Het
Ighg2b	T	C	12: 113,271,550 (GRCm39)	K1R	unknown	Het
Impdh2-ps	G	T	8: 100,758,141 (GRCm39)		noncoding transcript	Het
Kdelr2	A	C	5: 143,403,899 (GRCm39)	E96A	probably benign	Het
Lama2	G	A	10: 26,860,392 (GRCm39)	R3032C	probably damaging	Het
Lipg	T	A	18: 75,087,324 (GRCm39)	I166F	probably damaging	Het
Lrrc8b	T	C	5: 105,628,569 (GRCm39)	V305A	probably damaging	Het
Marveld2	T	C	13: 100,748,695 (GRCm39)	H128R	probably benign	Het
Mgat4a	A	G	1: 37,505,636 (GRCm39)	V189A	probably benign	Het
Mroh2b	A	T	15: 4,971,094 (GRCm39)	E1033V	probably damaging	Het
Mtmr7	A	G	8: 41,059,873 (GRCm39)	V80A	probably benign	Het
Ndrg2	A	G	14: 52,146,342 (GRCm39)	S153P	probably damaging	Het
Nelfa	C	T	5: 34,079,189 (GRCm39)		probably null	Het
Nes	G	T	3: 87,886,131 (GRCm39)	E1419D	possibly damaging	Het
Nipa1	C	A	7: 55,629,223 (GRCm39)	V297L	possibly damaging	Het
Obox5	T	A	7: 15,492,807 (GRCm39)	I254K	probably benign	Het
Or56b35	T	C	7: 104,963,778 (GRCm39)	V189A	possibly damaging	Het
Or8k24	G	A	2: 86,216,184 (GRCm39)	Q193*	probably null	Het
Pcdhga7	G	A	18: 37,848,388 (GRCm39)	A132T	probably benign	Het
Pla1a	T	A	16: 38,235,137 (GRCm39)	I186F	probably damaging	Het
Plscr4	T	A	9: 92,372,075 (GRCm39)	M282K	possibly damaging	Het
Rpl22l1	T	C	3: 28,861,047 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,330,800 (GRCm39)	D1246G	probably damaging	Het
Senp7	A	G	16: 56,006,471 (GRCm39)	S932G	possibly damaging	Het
Srcin1	T	A	11: 97,427,885 (GRCm39)	K236*	probably null	Het
Tbxas1	A	G	6: 39,004,839 (GRCm39)	D362G	possibly damaging	Het
Tcl1b5	T	C	12: 105,146,275 (GRCm39)	I116T	possibly damaging	Het
Tgm7	T	A	2: 120,929,522 (GRCm39)	M251L	probably damaging	Het
Tnn	T	A	1: 159,950,272 (GRCm39)	Q778L	possibly damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Zfp622	T	C	15: 25,984,855 (GRCm39)	C74R	probably damaging	Het
Zfp646	C	A	7: 127,481,875 (GRCm39)	H1351N	possibly damaging	Het

Other mutations in Slc51a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03160:Slc51a	APN	16	32,297,568 (GRCm39)	missense	probably damaging	1.00
IGL03201:Slc51a	APN	16	32,297,568 (GRCm39)	missense	probably damaging	1.00
IGL03227:Slc51a	APN	16	32,297,568 (GRCm39)	missense	probably damaging	1.00
IGL03228:Slc51a	APN	16	32,297,568 (GRCm39)	missense	probably damaging	1.00
IGL03267:Slc51a	APN	16	32,297,568 (GRCm39)	missense	probably damaging	1.00
R0109:Slc51a	UTSW	16	32,296,425 (GRCm39)	missense	probably benign	0.02
R0419:Slc51a	UTSW	16	32,295,254 (GRCm39)	missense	possibly damaging	0.90
R0744:Slc51a	UTSW	16	32,294,667 (GRCm39)	missense	probably benign	0.03
R0836:Slc51a	UTSW	16	32,294,667 (GRCm39)	missense	probably benign	0.03
R3751:Slc51a	UTSW	16	32,295,292 (GRCm39)	missense	probably benign	0.43
R5089:Slc51a	UTSW	16	32,296,364 (GRCm39)	critical splice donor site	probably null
R5924:Slc51a	UTSW	16	32,295,990 (GRCm39)	missense	possibly damaging	0.80
R6020:Slc51a	UTSW	16	32,298,584 (GRCm39)	missense	probably damaging	1.00
R6592:Slc51a	UTSW	16	32,294,621 (GRCm39)	missense	probably damaging	1.00
R6687:Slc51a	UTSW	16	32,298,543 (GRCm39)	missense	probably damaging	0.98
R7267:Slc51a	UTSW	16	32,298,590 (GRCm39)	missense	probably benign	0.00
R7876:Slc51a	UTSW	16	32,297,601 (GRCm39)	missense	probably benign	0.11
R8323:Slc51a	UTSW	16	32,295,197 (GRCm39)	missense	probably damaging	0.96
R9342:Slc51a	UTSW	16	32,298,517 (GRCm39)	missense	possibly damaging	0.70
R9455:Slc51a	UTSW	16	32,305,013 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTTGCTGTTATAGAGGAAGG -3'
(R):5'- ACCCAGCAGCTAACAAGTGG -3'

Sequencing Primer
(F):5'- AGATGGGGCTCACCGAG -3'
(R):5'- TGGAAGGACCTGGGCATTC -3'

Posted On

2016-09-01