Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01754:Slc5a4b'

153418

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 #

IGL01754

Quality Score

Status

Chromosome

Chromosomal Location

75894452-75946852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75906449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 390 (L390P)

Ref Sequence

ENSEMBL: ENSMUSP00000113582 (fasta)

Gene Model

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

AlphaFold

Q91ZP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000120757
AA Change: L390P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: L390P

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,708,942 (GRCm39)	C294R	probably damaging	Het
Afap1l1	A	G	18: 61,870,565 (GRCm39)		probably null	Het
Art2a	C	T	7: 101,204,059 (GRCm39)	V160M	probably damaging	Het
Atp8b3	T	C	10: 80,366,795 (GRCm39)		probably null	Het
Cwc22	A	G	2: 77,754,883 (GRCm39)	I231T	probably damaging	Het
Efr3a	C	A	15: 65,726,569 (GRCm39)	A554E	probably damaging	Het
Fads2b	T	C	2: 85,348,899 (GRCm39)	Q71R	probably damaging	Het
Fam3b	T	C	16: 97,277,607 (GRCm39)	T76A	probably benign	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gm4454	T	C	7: 38,268,386 (GRCm39)	T253A	probably damaging	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Igkv5-39	A	G	6: 69,877,661 (GRCm39)	S12P	probably damaging	Het
Itga10	G	A	3: 96,564,091 (GRCm39)		probably benign	Het
Kng1	A	T	16: 22,898,364 (GRCm39)	D407V	probably benign	Het
Lrrd1	A	G	5: 3,901,432 (GRCm39)	D579G	probably damaging	Het
Plcg1	C	A	2: 160,603,353 (GRCm39)	Q1175K	probably damaging	Het
Scml4	T	A	10: 42,833,746 (GRCm39)		probably benign	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Tectb	A	G	19: 55,172,445 (GRCm39)	Q164R	probably damaging	Het
Trim52	C	T	14: 106,344,623 (GRCm39)	Q94*	probably null	Het
Usp17ld	A	C	7: 102,899,870 (GRCm39)	V354G	probably benign	Het
Usp43	T	C	11: 67,747,007 (GRCm39)	H895R	probably benign	Het
Vmn2r24	T	C	6: 123,781,120 (GRCm39)	L442P	probably 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
IGL01904:Slc5a4b	APN	10	75,896,260 (GRCm39)	missense	probably damaging	0.98
IGL01990:Slc5a4b	APN	10	75,896,188 (GRCm39)	missense	probably benign	0.01
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

2014-02-04