Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02893:Slc10a6'

363301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc10a6

Ensembl Gene

ENSMUSG00000029321

Gene Name

solute carrier family 10 (sodium/bile acid cotransporter family), member 6

Synonyms

8430417G17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02893

Quality Score

Status

Chromosome

Chromosomal Location

103753583-103777152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103776739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 120 (D120E)

Ref Sequence

ENSEMBL: ENSMUSP00000031263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031263]

AlphaFold

Q9CXB2

Predicted Effect

probably benign
Transcript: ENSMUST00000031263
AA Change: D120E

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031263
Gene: ENSMUSG00000029321
AA Change: D120E

Domain	Start	End	E-Value	Type
Pfam:SBF	39	220	7.3e-43	PFAM
transmembrane domain	224	246	N/A	INTRINSIC
transmembrane domain	266	283	N/A	INTRINSIC
transmembrane domain	288	310	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118016

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,543 (GRCm39)	V802A	probably damaging	Het
Acsl6	G	A	11: 54,236,725 (GRCm39)	V540M	probably damaging	Het
Ahctf1	A	C	1: 179,603,576 (GRCm39)	Y823*	probably null	Het
Bbs1	T	A	19: 4,947,604 (GRCm39)	K317*	probably null	Het
Cand2	T	C	6: 115,768,921 (GRCm39)	L577P	probably damaging	Het
Cfap44	A	T	16: 44,237,180 (GRCm39)	D449V	probably damaging	Het
Col28a1	C	T	6: 8,103,534 (GRCm39)	G421S	probably damaging	Het
Dgkd	A	G	1: 87,842,930 (GRCm39)		probably benign	Het
Entpd1	T	C	19: 40,715,961 (GRCm39)	V347A	probably damaging	Het
Etl4	T	A	2: 20,765,021 (GRCm39)		probably benign	Het
Fam20a	G	A	11: 109,612,414 (GRCm39)	A43V	probably benign	Het
Fbxo9	A	G	9: 77,989,377 (GRCm39)		probably benign	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Gale	T	C	4: 135,694,913 (GRCm39)	V295A	probably benign	Het
Gpr139	A	T	7: 118,744,366 (GRCm39)	V73D	probably damaging	Het
Hpca	A	T	4: 129,012,215 (GRCm39)	M107K	probably damaging	Het
Igdcc4	G	T	9: 65,040,353 (GRCm39)	V1002F	probably damaging	Het
Irx4	T	A	13: 73,416,897 (GRCm39)	L431H	probably damaging	Het
Lca5l	T	C	16: 95,980,113 (GRCm39)	T6A	probably benign	Het
Lrp4	C	T	2: 91,305,161 (GRCm39)	R263C	possibly damaging	Het
Meikin	G	A	11: 54,308,584 (GRCm39)	C394Y	possibly damaging	Het
Mmp25	T	C	17: 23,863,025 (GRCm39)	T129A	probably damaging	Het
Mmp9	A	G	2: 164,790,988 (GRCm39)		probably null	Het
Mtmr3	A	T	11: 4,457,632 (GRCm39)	M171K	possibly damaging	Het
Muc4	C	T	16: 32,570,466 (GRCm39)	H509Y	possibly damaging	Het
Nwd1	A	T	8: 73,394,129 (GRCm39)	H464L	probably damaging	Het
Or5k1	A	G	16: 58,618,020 (GRCm39)	L63P	probably damaging	Het
Paqr5	G	A	9: 61,876,150 (GRCm39)	A128V	probably benign	Het
Pcdhb10	G	A	18: 37,546,687 (GRCm39)	V588M	probably damaging	Het
Pip	A	G	6: 41,824,596 (GRCm39)	D28G	probably damaging	Het
Rnf31	T	A	14: 55,836,566 (GRCm39)	F800Y	probably damaging	Het
Sag	T	G	1: 87,762,315 (GRCm39)	S327A	probably benign	Het
Sdf4	T	C	4: 156,080,985 (GRCm39)		probably benign	Het
Spata31d1d	T	A	13: 59,873,793 (GRCm39)	K1247N	possibly damaging	Het
Stam2	A	G	2: 52,604,914 (GRCm39)	V207A	probably damaging	Het
Sytl3	T	C	17: 7,000,373 (GRCm39)	L181P	probably damaging	Het
Tbc1d32	T	C	10: 55,893,799 (GRCm39)	E1258G	probably damaging	Het
Tmem63b	T	G	17: 45,972,826 (GRCm39)	H656P	probably damaging	Het
Tmem69	T	A	4: 116,410,926 (GRCm39)	M15L	probably benign	Het
Tmprss7	T	A	16: 45,489,891 (GRCm39)	I444F	possibly damaging	Het
Ttbk2	C	A	2: 120,614,210 (GRCm39)	R168L	probably damaging	Het
Ttc28	A	G	5: 111,433,251 (GRCm39)	Y2095C	possibly damaging	Het
Ube3c	A	G	5: 29,837,761 (GRCm39)	Y643C	probably damaging	Het
Ywhaq	G	A	12: 21,446,410 (GRCm39)	A152V	probably damaging	Het
Zeb2	T	A	2: 44,886,619 (GRCm39)	I813F	probably benign	Het

Other mutations in Slc10a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Slc10a6	APN	5	103,756,991 (GRCm39)	missense	probably benign	0.16
IGL00428:Slc10a6	APN	5	103,760,362 (GRCm39)	missense	probably benign	0.01
R0681:Slc10a6	UTSW	5	103,760,315 (GRCm39)	missense	possibly damaging	0.65
R1300:Slc10a6	UTSW	5	103,754,550 (GRCm39)	missense	probably benign	0.28
R1636:Slc10a6	UTSW	5	103,777,012 (GRCm39)	missense	probably benign	0.00
R2127:Slc10a6	UTSW	5	103,756,922 (GRCm39)	missense	probably benign	0.00
R2129:Slc10a6	UTSW	5	103,756,922 (GRCm39)	missense	probably benign	0.00
R4789:Slc10a6	UTSW	5	103,776,848 (GRCm39)	missense	probably benign	0.03
R4908:Slc10a6	UTSW	5	103,754,493 (GRCm39)	missense	probably benign	0.00
R4976:Slc10a6	UTSW	5	103,754,470 (GRCm39)	missense	probably benign	0.04
R5309:Slc10a6	UTSW	5	103,756,958 (GRCm39)	missense	probably damaging	0.96
R6784:Slc10a6	UTSW	5	103,776,896 (GRCm39)	missense	probably damaging	1.00
R7362:Slc10a6	UTSW	5	103,776,992 (GRCm39)	missense	probably damaging	0.99
R7658:Slc10a6	UTSW	5	103,777,056 (GRCm39)	missense	probably damaging	0.99
R7708:Slc10a6	UTSW	5	103,777,128 (GRCm39)	start gained	probably benign
R8084:Slc10a6	UTSW	5	103,760,327 (GRCm39)	missense	probably benign
R9145:Slc10a6	UTSW	5	103,776,800 (GRCm39)	missense	probably damaging	1.00
R9190:Slc10a6	UTSW	5	103,765,571 (GRCm39)	missense	probably damaging	0.96
R9345:Slc10a6	UTSW	5	103,754,521 (GRCm39)	missense	probably benign	0.01
RF009:Slc10a6	UTSW	5	103,756,858 (GRCm39)	missense	probably damaging	1.00
X0022:Slc10a6	UTSW	5	103,760,291 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18