Mutagenetix > Incidental Mutation

Incidental Mutation 'R7876:Slc51a'

608460

Institutional Source

Beutler Lab

Gene Symbol

Slc51a

Ensembl Gene

ENSMUSG00000035699

Gene Name

solute carrier family 51, alpha subunit

Synonyms

Osta, OSTalpha, D630035O19Rik

MMRRC Submission

045928-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R7876 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32294396-32306697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32297601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 99 (S99T)

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: S99T

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046286
Gene: ENSMUSG00000035699
AA Change: S99T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,760,439 (GRCm39)	K65R	probably benign	Het
Adprhl1	T	C	8: 13,273,509 (GRCm39)	D1083G	probably benign	Het
Aox1	C	T	1: 58,101,330 (GRCm39)	Q434*	probably null	Het
Atp13a5	T	A	16: 29,140,566 (GRCm39)	N330I	possibly damaging	Het
Brd8	A	G	18: 34,739,740 (GRCm39)	F678L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C87436	T	A	6: 86,423,411 (GRCm39)		probably null	Het
Cacna1h	A	T	17: 25,594,225 (GRCm39)	I2311K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cux1	T	C	5: 136,392,161 (GRCm39)	T187A	probably benign	Het
Dip2b	A	G	15: 100,088,922 (GRCm39)	I1031V	probably benign	Het
Efna5	T	C	17: 62,957,929 (GRCm39)	N109S	possibly damaging	Het
Fat2	A	T	11: 55,202,046 (GRCm39)	S343T	probably benign	Het
Fubp1	T	C	3: 151,937,928 (GRCm39)	Y654H	unknown	Het
Gbe1	G	A	16: 70,238,059 (GRCm39)	V282I	probably benign	Het
Grik1	T	C	16: 87,720,121 (GRCm39)	K719E		Het
Grm6	A	T	11: 50,750,457 (GRCm39)	Y540F	probably damaging	Het
Hmcn1	C	T	1: 150,620,722 (GRCm39)	V1163I	probably benign	Het
Igkv4-53	T	A	6: 69,625,987 (GRCm39)	Q60L	possibly damaging	Het
Igkv4-59	A	T	6: 69,415,337 (GRCm39)	S73T	probably damaging	Het
Il1a	A	C	2: 129,142,762 (GRCm39)	W228G	probably damaging	Het
Klk13	A	G	7: 43,370,403 (GRCm39)	D22G	probably benign	Het
Kntc1	T	A	5: 123,913,850 (GRCm39)	C602S	probably damaging	Het
Kras	T	C	6: 145,170,848 (GRCm39)	K176E	probably benign	Het
Krtap5-4	G	A	7: 141,857,585 (GRCm39)	C85Y	unknown	Het
Map3k13	A	G	16: 21,741,069 (GRCm39)	T799A	probably benign	Het
Mfhas1	T	C	8: 36,056,697 (GRCm39)	Y391H	probably damaging	Het
Morf4l1	G	A	9: 89,975,859 (GRCm39)	A311V	possibly damaging	Het
Ms4a8a	T	A	19: 11,056,848 (GRCm39)	Q78L	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,689,359 (GRCm39)	N306S	probably benign	Het
Ncapd3	T	C	9: 26,956,519 (GRCm39)		probably null	Het
Nrg2	T	A	18: 36,330,140 (GRCm39)	Y25F	unknown	Het
Nup153	C	T	13: 46,835,084 (GRCm39)	S1407N	probably benign	Het
Or2c1	T	A	16: 3,656,658 (GRCm39)		probably null	Het
Or4c99	A	G	2: 88,329,999 (GRCm39)	Y190C	probably damaging	Het
Or5b123	A	G	19: 13,596,628 (GRCm39)	Y34C	probably damaging	Het
Pcf11	A	C	7: 92,310,534 (GRCm39)	S485A	probably damaging	Het
Pde8a	A	G	7: 80,973,819 (GRCm39)	D592G	probably damaging	Het
Perm1	G	A	4: 156,302,046 (GRCm39)	G197R	probably damaging	Het
Pigo	A	T	4: 43,020,671 (GRCm39)	M757K	probably benign	Het
Pls1	G	A	9: 95,667,558 (GRCm39)	Q117*	probably null	Het
Plscr2	T	C	9: 92,169,781 (GRCm39)	V77A	probably benign	Het
Polm	T	C	11: 5,781,695 (GRCm39)	E267G	probably benign	Het
Pomgnt1	A	T	4: 116,015,106 (GRCm39)	K519M	probably damaging	Het
Ralyl	G	A	3: 14,104,850 (GRCm39)		probably null	Het
Rhbdd3	C	T	11: 5,055,832 (GRCm39)	T338I	possibly damaging	Het
Rnf31	T	C	14: 55,830,534 (GRCm39)		probably null	Het
Sorbs1	A	T	19: 40,285,032 (GRCm39)	L700H	probably damaging	Het
Tdrd7	G	A	4: 46,025,684 (GRCm39)	V835I	probably benign	Het
Tmcc3	T	C	10: 94,414,397 (GRCm39)	V64A	probably benign	Het
Tmprss5	A	G	9: 49,020,391 (GRCm39)	S140G	probably benign	Het
Tspan11	G	T	6: 127,900,629 (GRCm39)	V67F	possibly damaging	Het
Usp42	T	C	5: 143,707,426 (GRCm39)	T252A	probably damaging	Het
Vmn2r97	A	T	17: 19,149,326 (GRCm39)	E238V	probably damaging	Het
Wdpcp	T	A	11: 21,661,486 (GRCm39)	W253R	probably benign	Het
Zdhhc23	A	T	16: 43,789,663 (GRCm39)	V375E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het
Zmym1	A	T	4: 126,941,496 (GRCm39)	M964K	probably 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
R5424:Slc51a	UTSW	16	32,297,565 (GRCm39)	missense	probably benign	0.11
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
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'- GGTCGGGAAGAGCTAGATTC -3'
(R):5'- CAGCTCACATGTACAGGTGTG -3'

Sequencing Primer
(F):5'- AGCTAGATTCATATCAATGGGGC -3'
(R):5'- ACAAATTTGTGGTGTCAGTTCTCC -3'

Posted On

2019-12-20