Mutagenetix > Incidental Mutations

Incidental Mutation 'R1973:Slc10a7'

221250

Institutional Source

Beutler Lab

Gene Symbol

Slc10a7

Ensembl Gene

ENSMUSG00000031684

Gene Name

solute carrier family 10 (sodium/bile acid cotransporter family), member 7

Synonyms

2410193C02Rik

MMRRC Submission

039986-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.809) question?

Stock #

R1973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78509346-78734003 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 78697333 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034111] [ENSMUST00000209490] [ENSMUST00000209490] [ENSMUST00000209992] [ENSMUST00000209992] [ENSMUST00000210515] [ENSMUST00000210630] [ENSMUST00000211286]

Predicted Effect

probably null
Transcript: ENSMUST00000034111

SMART Domains

Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684

Domain	Start	End	E-Value	Type
Pfam:SBF_like	10	324	1.9e-82	PFAM
Pfam:SBF	44	224	2.9e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000209490

Predicted Effect

probably null
Transcript: ENSMUST00000209490

Predicted Effect

probably null
Transcript: ENSMUST00000209992

Predicted Effect

probably null
Transcript: ENSMUST00000209992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210132

Predicted Effect

probably benign
Transcript: ENSMUST00000210515

Predicted Effect

probably benign
Transcript: ENSMUST00000210630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210703

Predicted Effect

probably benign
Transcript: ENSMUST00000211286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211332

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	C	5: 8,812,746	I143L	probably benign	Het
Acp7	T	A	7: 28,607,989	D481V	probably damaging	Het
AI597479	T	A	1: 43,111,126	I132K	probably benign	Het
Anxa13	T	C	15: 58,356,181		noncoding transcript	Het
Brca1	A	T	11: 101,526,403	C302S	probably benign	Het
Brd8	T	A	18: 34,608,013	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,459,777	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,102,563	C294S	probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Chat	C	T	14: 32,424,191	V342I	probably benign	Het
Chd6	A	G	2: 160,966,387	S1636P	probably damaging	Het
Clec4a1	A	G	6: 122,924,834		probably null	Het
Col6a3	A	T	1: 90,804,175	I1452N	probably damaging	Het
Dennd2c	T	C	3: 103,131,698	V54A	probably benign	Het
Dnah1	C	T	14: 31,265,391	W3550*	probably null	Het
Dscr3	T	C	16: 94,501,546	N267S	probably damaging	Het
Efl1	T	C	7: 82,762,877	S825P	probably damaging	Het
Fam189a1	A	T	7: 64,775,768	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405	E350K	probably benign	Het
Frem2	T	A	3: 53,652,232	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,603,286	T6A	probably benign	Het
Gm5814	A	T	17: 47,410,549	M63L	probably benign	Het
Gpr149	T	C	3: 62,530,795	K647R	probably benign	Het
Iqgap3	T	A	3: 88,083,928		probably null	Het
Kcnh3	T	C	15: 99,229,400	V359A	probably damaging	Het
Kit	G	A	5: 75,615,442	A295T	probably damaging	Het
Krt77	G	T	15: 101,861,244	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,149,076	S638*	probably null	Het
Neurl4	C	T	11: 69,909,292	P1091S	probably benign	Het
Nod2	A	T	8: 88,652,873	M8L	probably damaging	Het
Nos1	A	G	5: 117,936,426	T1046A	possibly damaging	Het
Nsfl1c	G	T	2: 151,505,414	S202I	probably damaging	Het
Nuak2	A	T	1: 132,330,602	H257L	probably damaging	Het
Nwd1	T	C	8: 72,704,962	V1195A	possibly damaging	Het
Olfr243	T	A	7: 103,716,597	M1K	probably null	Het
Olfr370	T	C	8: 83,541,792	V216A	probably benign	Het
Olfr693	T	C	7: 106,678,219	D89G	probably benign	Het
Olfr889	T	A	9: 38,116,567	M257K	possibly damaging	Het
Olfr919	A	G	9: 38,697,868	V170A	probably damaging	Het
Pclo	G	T	5: 14,676,059		probably null	Het
Pnpla7	A	G	2: 25,016,617	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,576,934	T105I	probably benign	Het
Ptger1	C	A	8: 83,669,454	T380K	probably benign	Het
Ptk7	G	A	17: 46,586,807	Q282*	probably null	Het
Ptpn18	G	T	1: 34,463,109	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,024,391	D589G	probably damaging	Het
Rara	A	G	11: 98,971,670	N299S	possibly damaging	Het
Rpl13a	T	A	7: 45,125,995	K368*	probably null	Het
Rslcan18	T	C	13: 67,108,023		probably benign	Het
Rtel1	A	G	2: 181,351,626	Y731C	probably benign	Het
Sec16a	A	T	2: 26,426,489	S1666R	probably damaging	Het
Sis	A	G	3: 72,921,004	F1217S	probably damaging	Het
Slc22a7	A	G	17: 46,437,090	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,663,605	I249V	probably benign	Het
Slc38a4	T	C	15: 96,999,597	K446E	probably benign	Het
Sned1	G	A	1: 93,265,073	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,066	*876C	probably null	Het
Spink11	A	G	18: 44,196,138	C14R	unknown	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Tnfaip3	T	C	10: 19,004,504	N605S	probably damaging	Het
Trpc1	A	G	9: 95,723,255	M283T	probably benign	Het
Ttn	A	G	2: 76,714,362	S32799P	probably damaging	Het
Ttn	A	G	2: 76,720,099	I31613T	probably damaging	Het
Ugt1a10	A	T	1: 88,056,047	Y189F	probably damaging	Het
Usp32	G	T	11: 85,103,931	L52I	probably benign	Het
Usp33	A	G	3: 152,360,286	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,025,026	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Wdr43	A	G	17: 71,640,240	N364D	probably benign	Het
Zdbf2	C	A	1: 63,309,701	P2413Q	unknown	Het

Other mutations in Slc10a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Slc10a7	APN	8	78698580	splice site	probably benign
IGL01589:Slc10a7	APN	8	78729740	missense	probably damaging	0.98
IGL01868:Slc10a7	APN	8	78697336	splice site	probably null
IGL02197:Slc10a7	APN	8	78515663	missense	probably damaging	0.98
IGL02205:Slc10a7	APN	8	78697303	missense	probably benign	0.04
IGL03128:Slc10a7	APN	8	78525217	missense	probably damaging	1.00
R0123:Slc10a7	UTSW	8	78697158	splice site	probably null
R0134:Slc10a7	UTSW	8	78697158	splice site	probably null
R2266:Slc10a7	UTSW	8	78509635	missense	probably benign	0.02
R2362:Slc10a7	UTSW	8	78509632	missense	probably damaging	0.99
R4756:Slc10a7	UTSW	8	78706950	critical splice donor site	probably null
R5454:Slc10a7	UTSW	8	78686624	missense	possibly damaging	0.71
R5753:Slc10a7	UTSW	8	78525299	critical splice donor site	probably null
R6621:Slc10a7	UTSW	8	78515634	missense	probably damaging	1.00
R7814:Slc10a7	UTSW	8	78698573	critical splice donor site	probably null
R7977:Slc10a7	UTSW	8	78697214	missense	probably benign	0.13
R7987:Slc10a7	UTSW	8	78697214	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GTGATGCCCAATTCCACTTC -3'
(R):5'- ACTGTAGATCAGAAAGTGGTGC -3'

Sequencing Primer
(F):5'- AAGAGGCGACCTGTTGATCTC -3'
(R):5'- TCAGAAAGTGGTGCACGAAAC -3'

Posted On

2014-08-25