Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01121:Slc10a4'

51147

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc10a4

Ensembl Gene

ENSMUSG00000029219

Gene Name

solute carrier family 10 (sodium/bile acid cotransporter family), member 4

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01121

Quality Score

Status

Chromosome

Chromosomal Location

73164247-73170298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73164929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 174 (C174R)

Ref Sequence

ENSEMBL: ENSMUSP00000031127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031127] [ENSMUST00000201304]

AlphaFold

Q3UEZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031127
AA Change: C174R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031127
Gene: ENSMUSG00000029219
AA Change: C174R

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
low complexity region	42	55	N/A	INTRINSIC
low complexity region	59	74	N/A	INTRINSIC
Pfam:SBF	111	290	1e-37	PFAM
transmembrane domain	360	382	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201304

SMART Domains

Protein: ENSMUSP00000144062
Gene: ENSMUSG00000029219

Domain	Start	End	E-Value	Type
Pfam:SBF	1	91	1.7e-8	PFAM
transmembrane domain	101	123	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit seizures and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	G	A	18: 62,888,219 (GRCm39)		noncoding transcript	Het
4930432E11Rik	A	T	7: 29,273,426 (GRCm39)		noncoding transcript	Het
Alg3	T	C	16: 20,429,397 (GRCm39)	E31G	probably damaging	Het
Arhgap29	A	G	3: 121,803,512 (GRCm39)	E764G	probably damaging	Het
Atp5mf	C	A	5: 145,121,378 (GRCm39)	V68L	probably benign	Het
Birc6	T	A	17: 74,938,033 (GRCm39)	I2645K	probably benign	Het
Capn11	A	G	17: 45,950,058 (GRCm39)	S369P	probably benign	Het
Car4	A	T	11: 84,855,172 (GRCm39)		probably null	Het
Ccdc185	C	T	1: 182,576,222 (GRCm39)	V156I	probably benign	Het
Cpsf2	G	T	12: 101,954,965 (GRCm39)	E245D	probably damaging	Het
Dnah11	T	C	12: 118,014,430 (GRCm39)	D2019G	probably benign	Het
Dscc1	A	G	15: 54,945,721 (GRCm39)		probably benign	Het
Dzip3	T	C	16: 48,765,244 (GRCm39)	D490G	probably benign	Het
E2f8	G	A	7: 48,517,569 (GRCm39)	Q745*	probably null	Het
Fat3	T	A	9: 15,909,697 (GRCm39)	T2102S	probably benign	Het
Fgf7	C	T	2: 125,930,152 (GRCm39)		probably benign	Het
Fstl4	T	C	11: 52,705,464 (GRCm39)	F47L	probably benign	Het
Gm15097	A	T	X: 148,587,324 (GRCm39)	R129S	possibly damaging	Het
Gm4297	C	T	X: 24,418,854 (GRCm39)	D200N	probably benign	Het
Itgb5	G	T	16: 33,740,359 (GRCm39)	D490Y	probably benign	Het
Kansl1	A	G	11: 104,226,422 (GRCm39)	S912P	probably benign	Het
Kcnq3	A	T	15: 65,877,826 (GRCm39)		probably benign	Het
Kctd6	A	G	14: 8,222,656 (GRCm38)	H166R	possibly damaging	Het
Kel	T	C	6: 41,679,343 (GRCm39)	D140G	probably benign	Het
Lrif1	C	A	3: 106,642,980 (GRCm39)	S177*	probably null	Het
Lrp1	A	T	10: 127,419,722 (GRCm39)	C962*	probably null	Het
Lypd5	A	T	7: 24,050,976 (GRCm39)	Y29F	probably benign	Het
Mmrn1	A	G	6: 60,952,928 (GRCm39)	D403G	possibly damaging	Het
Nhsl1	T	G	10: 18,387,458 (GRCm39)	V244G	probably damaging	Het
Or6c35	T	C	10: 129,168,804 (GRCm39)	I18T	probably benign	Het
Ptprd	A	T	4: 75,872,438 (GRCm39)		probably benign	Het
Rcan2	A	T	17: 44,328,775 (GRCm39)	I69L	probably damaging	Het
Rprd2	A	G	3: 95,683,862 (GRCm39)	L373P	probably damaging	Het
Tas2r134	C	T	2: 51,518,001 (GRCm39)	T160I	probably damaging	Het
Tbc1d19	T	A	5: 54,054,404 (GRCm39)	L464*	probably null	Het
Tmem45a2	C	T	16: 56,861,153 (GRCm39)	D225N	possibly damaging	Het
Unc79	G	A	12: 103,131,890 (GRCm39)	C2139Y	probably damaging	Het
Vmn2r101	G	T	17: 19,809,936 (GRCm39)	G241C	probably damaging	Het
Vmn2r91	T	C	17: 18,356,766 (GRCm39)	V811A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Wdr70	T	C	15: 7,902,655 (GRCm39)	K656E	possibly damaging	Het
Zfp579	C	A	7: 4,996,246 (GRCm39)	C555F	possibly damaging	Het

Other mutations in Slc10a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Slc10a4	APN	5	73,169,263 (GRCm39)	missense	probably damaging	0.98
IGL03324:Slc10a4	APN	5	73,169,286 (GRCm39)	missense	probably damaging	1.00
R1727:Slc10a4	UTSW	5	73,173,491 (GRCm39)	unclassified	probably benign
R1889:Slc10a4	UTSW	5	73,169,490 (GRCm39)	missense	possibly damaging	0.91
R2071:Slc10a4	UTSW	5	73,164,840 (GRCm39)	missense	probably damaging	1.00
R2091:Slc10a4	UTSW	5	73,174,482 (GRCm39)	unclassified	probably benign
R2137:Slc10a4	UTSW	5	73,164,923 (GRCm39)	missense	probably damaging	1.00
R2516:Slc10a4	UTSW	5	73,165,848 (GRCm39)	missense	possibly damaging	0.62
R4723:Slc10a4	UTSW	5	73,169,398 (GRCm39)	missense	probably damaging	1.00
R5728:Slc10a4	UTSW	5	73,169,677 (GRCm39)	missense	probably damaging	0.99
R5838:Slc10a4	UTSW	5	73,169,373 (GRCm39)	missense	probably benign	0.00
R6175:Slc10a4	UTSW	5	73,169,593 (GRCm39)	missense	possibly damaging	0.60
R7375:Slc10a4	UTSW	5	73,169,650 (GRCm39)	missense	probably benign	0.00
R7682:Slc10a4	UTSW	5	73,164,453 (GRCm39)	missense	unknown
R9769:Slc10a4	UTSW	5	73,164,423 (GRCm39)	missense	unknown
X0066:Slc10a4	UTSW	5	73,165,848 (GRCm39)	missense	possibly damaging	0.62

Posted On

2013-06-21