Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01990:Slc5a4b'

182023

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc5a4b

Ensembl Gene

ENSMUSG00000020226

Gene Name

solute carrier family 5 (neutral amino acid transporters, system A), member 4b

Synonyms

SGLT3b, pSGLT2, 2010104G07Rik, SAAT1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL01990

Quality Score

Status

Chromosome

Chromosomal Location

75894452-75946852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75896188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 589 (E589G)

Ref Sequence

ENSEMBL: ENSMUSP00000113582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120757]

AlphaFold

Q91ZP4

Predicted Effect

probably benign
Transcript: ENSMUST00000120757
AA Change: E589G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: E589G

Domain	Start	End	E-Value	Type
low complexity region	16	21	N/A	INTRINSIC
Pfam:SSF	58	492	1.4e-163	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	640	659	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	G	17: 33,653,068 (GRCm39)	N376S	probably benign	Het
Adgrv1	T	C	13: 81,705,115 (GRCm39)	D1565G	probably damaging	Het
Atf5	T	G	7: 44,462,473 (GRCm39)	D217A	probably damaging	Het
Azgp1	T	C	5: 137,987,997 (GRCm39)	W260R	probably damaging	Het
Cnr2	C	T	4: 135,644,116 (GRCm39)	R65C	probably damaging	Het
Col14a1	A	G	15: 55,226,859 (GRCm39)	Y203C	unknown	Het
Colec11	A	G	12: 28,644,985 (GRCm39)	Y170H	probably benign	Het
Exosc10	A	G	4: 148,650,867 (GRCm39)	Q471R	possibly damaging	Het
Gal3st1	G	T	11: 3,948,741 (GRCm39)	W316L	probably damaging	Het
Igfbp3	C	A	11: 7,158,504 (GRCm39)	R253L	probably damaging	Het
Kcnb2	A	T	1: 15,383,178 (GRCm39)	D168V	probably benign	Het
Khnyn	T	G	14: 56,125,045 (GRCm39)	I433S	possibly damaging	Het
Naaa	T	A	5: 92,415,922 (GRCm39)	T193S	possibly damaging	Het
Nsun7	G	A	5: 66,418,416 (GRCm39)	D49N	probably damaging	Het
Pappa	T	C	4: 65,074,924 (GRCm39)		probably benign	Het
Pfkfb2	A	G	1: 130,633,107 (GRCm39)		probably benign	Het
Pkd1l3	C	T	8: 110,387,438 (GRCm39)	T1794I	probably damaging	Het
Prex2	A	C	1: 11,193,457 (GRCm39)		probably benign	Het
Slc2a7	T	G	4: 150,239,141 (GRCm39)	I122S	possibly damaging	Het
Slc31a2	A	G	4: 62,214,207 (GRCm39)	K53E	probably benign	Het
Slc35f4	C	T	14: 49,541,626 (GRCm39)		probably null	Het
Slc38a7	C	T	8: 96,571,590 (GRCm39)	W213*	probably null	Het
Syne2	A	G	12: 76,101,707 (GRCm39)	N5407S	probably damaging	Het
Tgm2	A	T	2: 157,966,051 (GRCm39)	D534E	probably benign	Het
Ugt1a7c	A	G	1: 88,023,324 (GRCm39)	Y161C	probably damaging	Het
Vmn2r114	A	G	17: 23,529,355 (GRCm39)	M249T	probably benign	Het
Xkr9	A	G	1: 13,771,203 (GRCm39)	I240V	probably benign	Het
Zfat	A	G	15: 68,096,666 (GRCm39)	L49P	probably damaging	Het
Zfhx2	G	T	14: 55,311,047 (GRCm39)	P549H	probably damaging	Het
Zfp551	C	T	7: 12,156,343 (GRCm39)	V25M	possibly damaging	Het

Other mutations in Slc5a4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Slc5a4b	APN	10	75,906,422 (GRCm39)	missense	probably damaging	1.00
IGL01433:Slc5a4b	APN	10	75,906,329 (GRCm39)	splice site	probably benign
IGL01754:Slc5a4b	APN	10	75,906,449 (GRCm39)	missense	probably damaging	1.00
IGL01904:Slc5a4b	APN	10	75,896,260 (GRCm39)	missense	probably damaging	0.98
IGL02211:Slc5a4b	APN	10	75,896,297 (GRCm39)	splice site	probably benign
IGL02254:Slc5a4b	APN	10	75,896,264 (GRCm39)	missense	probably benign
IGL02389:Slc5a4b	APN	10	75,908,299 (GRCm39)	nonsense	probably null
IGL02427:Slc5a4b	APN	10	75,894,713 (GRCm39)	missense	possibly damaging	0.47
IGL02493:Slc5a4b	APN	10	75,910,849 (GRCm39)	missense	probably damaging	1.00
IGL02554:Slc5a4b	APN	10	75,946,685 (GRCm39)	missense	possibly damaging	0.75
IGL02670:Slc5a4b	APN	10	75,910,934 (GRCm39)	missense	probably damaging	1.00
R0254:Slc5a4b	UTSW	10	75,906,462 (GRCm39)	missense	possibly damaging	0.55
R0285:Slc5a4b	UTSW	10	75,898,117 (GRCm39)	missense	probably damaging	0.99
R0294:Slc5a4b	UTSW	10	75,917,161 (GRCm39)	missense	probably damaging	1.00
R0522:Slc5a4b	UTSW	10	75,926,534 (GRCm39)	missense	probably damaging	0.99
R0601:Slc5a4b	UTSW	10	75,899,870 (GRCm39)	missense	possibly damaging	0.81
R0714:Slc5a4b	UTSW	10	75,917,341 (GRCm39)	missense	probably benign	0.09
R0975:Slc5a4b	UTSW	10	75,917,241 (GRCm39)	missense	probably benign	0.09
R1934:Slc5a4b	UTSW	10	75,917,307 (GRCm39)	missense	possibly damaging	0.51
R2339:Slc5a4b	UTSW	10	75,944,383 (GRCm39)	missense	probably damaging	1.00
R2886:Slc5a4b	UTSW	10	75,910,907 (GRCm39)	missense	probably damaging	0.98
R3552:Slc5a4b	UTSW	10	75,917,358 (GRCm39)	missense	probably damaging	0.99
R3890:Slc5a4b	UTSW	10	75,898,094 (GRCm39)	missense	probably benign	0.01
R4012:Slc5a4b	UTSW	10	75,910,826 (GRCm39)	missense	probably damaging	1.00
R4259:Slc5a4b	UTSW	10	75,939,686 (GRCm39)	missense	probably damaging	1.00
R4260:Slc5a4b	UTSW	10	75,939,686 (GRCm39)	missense	probably damaging	1.00
R4471:Slc5a4b	UTSW	10	75,894,725 (GRCm39)	nonsense	probably null
R4667:Slc5a4b	UTSW	10	75,910,879 (GRCm39)	missense	possibly damaging	0.78
R4846:Slc5a4b	UTSW	10	75,898,073 (GRCm39)	missense	probably damaging	0.99
R4939:Slc5a4b	UTSW	10	75,917,301 (GRCm39)	missense	probably benign	0.44
R5181:Slc5a4b	UTSW	10	75,896,221 (GRCm39)	nonsense	probably null
R5319:Slc5a4b	UTSW	10	75,898,233 (GRCm39)	missense	probably benign	0.08
R6306:Slc5a4b	UTSW	10	75,917,185 (GRCm39)	missense	probably benign	0.01
R6422:Slc5a4b	UTSW	10	75,939,696 (GRCm39)	missense	probably damaging	0.97
R6837:Slc5a4b	UTSW	10	75,898,220 (GRCm39)	missense	possibly damaging	0.49
R6997:Slc5a4b	UTSW	10	75,925,812 (GRCm39)	missense	probably damaging	0.97
R7140:Slc5a4b	UTSW	10	75,910,943 (GRCm39)	missense	probably damaging	1.00
R7527:Slc5a4b	UTSW	10	75,946,742 (GRCm39)	missense	probably benign	0.01
R7683:Slc5a4b	UTSW	10	75,899,906 (GRCm39)	missense	probably damaging	0.96
R7718:Slc5a4b	UTSW	10	75,906,407 (GRCm39)	missense	probably damaging	1.00
R7794:Slc5a4b	UTSW	10	75,898,133 (GRCm39)	missense	probably benign	0.19
R7877:Slc5a4b	UTSW	10	75,910,886 (GRCm39)	missense	probably damaging	1.00
R8150:Slc5a4b	UTSW	10	75,939,680 (GRCm39)	missense	possibly damaging	0.93
R8843:Slc5a4b	UTSW	10	75,910,925 (GRCm39)	missense	probably damaging	1.00
R9111:Slc5a4b	UTSW	10	75,925,827 (GRCm39)	splice site	probably benign
R9163:Slc5a4b	UTSW	10	75,917,165 (GRCm39)	nonsense	probably null
R9195:Slc5a4b	UTSW	10	75,898,149 (GRCm39)	missense	probably damaging	1.00
R9600:Slc5a4b	UTSW	10	75,896,239 (GRCm39)	missense	probably damaging	1.00
R9643:Slc5a4b	UTSW	10	75,945,896 (GRCm39)	missense	probably benign	0.01
R9656:Slc5a4b	UTSW	10	75,944,391 (GRCm39)	missense	probably damaging	0.98
R9699:Slc5a4b	UTSW	10	75,946,674 (GRCm39)	missense	probably damaging	0.99
X0019:Slc5a4b	UTSW	10	75,946,685 (GRCm39)	missense	possibly damaging	0.75

Posted On

2014-05-07