Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00670:Slc5a4a'

14112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL00670

Quality Score

Status

Chromosome

Chromosomal Location

75983285-76025099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75999567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 210 (I210F)

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020450]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020450
AA Change: I210F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: I210F

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
Pfam:SSF	58	492	4e-161	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	636	655	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,633,007 (GRCm39)	L245Q	probably damaging	Het
Abcd3	A	T	3: 121,569,333 (GRCm39)	V333D	probably damaging	Het
Aff2	T	A	X: 68,588,199 (GRCm39)	M122K	possibly damaging	Het
Car10	C	T	11: 93,195,483 (GRCm39)		probably benign	Het
Cyp2d26	T	A	15: 82,675,942 (GRCm39)	M257L	probably benign	Het
Cyp2j5	T	G	4: 96,522,512 (GRCm39)	D354A	probably benign	Het
Fam228b	T	C	12: 4,814,081 (GRCm39)	K59E	probably damaging	Het
Fndc3c1	T	C	X: 105,489,383 (GRCm39)	D346G	probably benign	Het
Med14	G	A	X: 12,620,428 (GRCm39)	A95V	probably damaging	Het
Med23	T	C	10: 24,764,482 (GRCm39)	L155P	probably damaging	Het
Mrps31	A	G	8: 22,919,206 (GRCm39)	D312G	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,059 (GRCm39)	N618K	probably benign	Het
Prb1a	A	T	6: 132,184,109 (GRCm39)		probably benign	Het
Tasor2	A	T	13: 3,635,241 (GRCm39)	I522N	probably benign	Het
Ttn	A	T	2: 76,657,335 (GRCm39)		probably benign	Het

Other mutations in Slc5a4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01725:Slc5a4a	APN	10	76,017,508 (GRCm39)	missense	probably benign	0.00
IGL02629:Slc5a4a	APN	10	75,983,413 (GRCm39)	missense	unknown
IGL02976:Slc5a4a	APN	10	76,006,527 (GRCm39)	missense	possibly damaging	0.67
IGL03255:Slc5a4a	APN	10	75,986,346 (GRCm39)	missense	probably damaging	1.00
IGL03258:Slc5a4a	APN	10	75,986,386 (GRCm39)	missense	possibly damaging	0.81
R0054:Slc5a4a	UTSW	10	76,014,031 (GRCm39)	missense	probably null	0.00
R0244:Slc5a4a	UTSW	10	76,024,986 (GRCm39)	missense	possibly damaging	0.46
R0398:Slc5a4a	UTSW	10	76,018,556 (GRCm39)	missense	possibly damaging	0.46
R0799:Slc5a4a	UTSW	10	76,012,368 (GRCm39)	missense	probably benign	0.00
R1160:Slc5a4a	UTSW	10	76,013,995 (GRCm39)	missense	possibly damaging	0.52
R1471:Slc5a4a	UTSW	10	76,022,362 (GRCm39)	missense	probably damaging	0.99
R1720:Slc5a4a	UTSW	10	76,025,103 (GRCm39)	splice site	probably null
R1857:Slc5a4a	UTSW	10	76,002,569 (GRCm39)	missense	probably benign	0.27
R1858:Slc5a4a	UTSW	10	76,002,569 (GRCm39)	missense	probably benign	0.27
R1859:Slc5a4a	UTSW	10	76,002,569 (GRCm39)	missense	probably benign	0.27
R1942:Slc5a4a	UTSW	10	75,983,422 (GRCm39)	missense	unknown
R2016:Slc5a4a	UTSW	10	75,989,414 (GRCm39)	missense	probably benign	0.00
R2316:Slc5a4a	UTSW	10	76,013,915 (GRCm39)	splice site	probably null
R3420:Slc5a4a	UTSW	10	76,012,407 (GRCm39)	missense	probably benign	0.00
R3421:Slc5a4a	UTSW	10	76,012,407 (GRCm39)	missense	probably benign	0.00
R3422:Slc5a4a	UTSW	10	76,012,407 (GRCm39)	missense	probably benign	0.00
R3845:Slc5a4a	UTSW	10	76,024,983 (GRCm39)	missense	probably damaging	0.99
R3874:Slc5a4a	UTSW	10	76,017,489 (GRCm39)	missense	probably benign	0.42
R4523:Slc5a4a	UTSW	10	75,984,196 (GRCm39)	missense	probably damaging	0.99
R4537:Slc5a4a	UTSW	10	76,013,929 (GRCm39)	nonsense	probably null
R4538:Slc5a4a	UTSW	10	76,013,929 (GRCm39)	nonsense	probably null
R4755:Slc5a4a	UTSW	10	76,022,398 (GRCm39)	missense	probably benign	0.00
R4868:Slc5a4a	UTSW	10	76,014,065 (GRCm39)	missense	probably damaging	0.98
R5135:Slc5a4a	UTSW	10	75,983,428 (GRCm39)	missense	unknown
R5254:Slc5a4a	UTSW	10	76,018,572 (GRCm39)	nonsense	probably null
R6083:Slc5a4a	UTSW	10	75,983,431 (GRCm39)	missense	unknown
R6331:Slc5a4a	UTSW	10	76,014,034 (GRCm39)	missense	probably damaging	0.98
R7591:Slc5a4a	UTSW	10	75,983,501 (GRCm39)	critical splice donor site	probably benign
R7671:Slc5a4a	UTSW	10	75,983,384 (GRCm39)	missense	unknown
R8785:Slc5a4a	UTSW	10	75,986,238 (GRCm39)	critical splice acceptor site	probably benign
R8929:Slc5a4a	UTSW	10	76,006,617 (GRCm39)	missense	probably benign	0.27
R8993:Slc5a4a	UTSW	10	76,022,369 (GRCm39)	missense	probably benign	0.15
R9018:Slc5a4a	UTSW	10	76,002,546 (GRCm39)	missense	possibly damaging	0.67
R9474:Slc5a4a	UTSW	10	75,986,238 (GRCm39)	critical splice acceptor site	probably benign
R9567:Slc5a4a	UTSW	10	76,022,396 (GRCm39)	missense	probably benign	0.08
R9648:Slc5a4a	UTSW	10	76,002,608 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc5a4a	UTSW	10	76,018,681 (GRCm39)	nonsense	probably null
Z1177:Slc5a4a	UTSW	10	76,002,578 (GRCm39)	missense	probably benign	0.01

Posted On

2012-12-06