Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02703:Slc41a2'

304201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc41a2

Ensembl Gene

ENSMUSG00000034591

Gene Name

solute carrier family 41, member 2

Synonyms

A230035L05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL02703

Quality Score

Status

Chromosome

Chromosomal Location

83066712-83173746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83090711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 491 (K491R)

Ref Sequence

ENSEMBL: ENSMUSP00000036690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039956]

AlphaFold

Q8BYR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039956
AA Change: K491R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: K491R

Domain	Start	End	E-Value	Type
transmembrane domain	159	181	N/A	INTRINSIC
Pfam:MgtE	200	334	8.7e-24	PFAM
transmembrane domain	346	368	N/A	INTRINSIC
transmembrane domain	375	397	N/A	INTRINSIC
Pfam:MgtE	414	557	2.9e-32	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	A	T	3: 37,118,390 (GRCm39)	Q60L	probably damaging	Het
AI593442	A	C	9: 52,589,418 (GRCm39)	L53R	probably damaging	Het
Bmp2	T	G	2: 133,403,324 (GRCm39)	S292A	probably benign	Het
Cd37	T	C	7: 44,884,949 (GRCm39)	D186G	probably benign	Het
Cenpf	T	C	1: 189,391,955 (GRCm39)	I626V	probably benign	Het
Faim	T	A	9: 98,874,254 (GRCm39)	S49T	probably benign	Het
Glrb	T	G	3: 80,758,300 (GRCm39)	E371A	probably benign	Het
Kcne2	T	C	16: 92,093,838 (GRCm39)	S122P	possibly damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Or10v1	A	G	19: 11,873,606 (GRCm39)	T74A	possibly damaging	Het
Or2f1	T	G	6: 42,721,010 (GRCm39)	I13S	possibly damaging	Het
Or8k3	T	A	2: 86,059,323 (GRCm39)		probably benign	Het
Pex1	C	A	5: 3,665,120 (GRCm39)	H573Q	probably benign	Het
Plxna1	A	G	6: 89,333,925 (GRCm39)	S235P	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Sugct	T	G	13: 17,627,125 (GRCm39)	T243P	possibly damaging	Het
Tnfaip3	G	T	10: 18,882,780 (GRCm39)	D212E	probably damaging	Het
Trim68	A	G	7: 102,333,286 (GRCm39)	V132A	probably damaging	Het

Other mutations in Slc41a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Slc41a2	APN	10	83,149,394 (GRCm39)	unclassified	probably benign
IGL02263:Slc41a2	APN	10	83,149,364 (GRCm39)	missense	possibly damaging	0.82
IGL02338:Slc41a2	APN	10	83,152,455 (GRCm39)	missense	possibly damaging	0.68
IGL02680:Slc41a2	APN	10	83,119,728 (GRCm39)	missense	probably benign	0.20
IGL03039:Slc41a2	APN	10	83,119,722 (GRCm39)	missense	probably benign	0.37
PIT4508001:Slc41a2	UTSW	10	83,090,744 (GRCm39)	missense	probably damaging	0.99
R0326:Slc41a2	UTSW	10	83,119,610 (GRCm39)	missense	probably damaging	1.00
R0470:Slc41a2	UTSW	10	83,152,086 (GRCm39)	missense	possibly damaging	0.94
R0610:Slc41a2	UTSW	10	83,119,592 (GRCm39)	missense	possibly damaging	0.75
R1708:Slc41a2	UTSW	10	83,069,596 (GRCm39)	missense	probably damaging	1.00
R1765:Slc41a2	UTSW	10	83,137,130 (GRCm39)	missense	probably damaging	1.00
R1870:Slc41a2	UTSW	10	83,137,029 (GRCm39)	nonsense	probably null
R1875:Slc41a2	UTSW	10	83,091,949 (GRCm39)	missense	probably damaging	1.00
R2008:Slc41a2	UTSW	10	83,140,167 (GRCm39)	critical splice donor site	probably null
R2172:Slc41a2	UTSW	10	83,119,638 (GRCm39)	missense	probably benign	0.00
R4193:Slc41a2	UTSW	10	83,137,085 (GRCm39)	missense	probably damaging	0.97
R4789:Slc41a2	UTSW	10	83,152,320 (GRCm39)	missense	probably damaging	1.00
R4861:Slc41a2	UTSW	10	83,152,322 (GRCm39)	missense	probably damaging	0.99
R4861:Slc41a2	UTSW	10	83,152,322 (GRCm39)	missense	probably damaging	0.99
R4913:Slc41a2	UTSW	10	83,149,284 (GRCm39)	missense	probably damaging	1.00
R5012:Slc41a2	UTSW	10	83,137,127 (GRCm39)	missense	probably benign	0.02
R5140:Slc41a2	UTSW	10	83,133,155 (GRCm39)	missense	probably damaging	0.98
R5189:Slc41a2	UTSW	10	83,149,275 (GRCm39)	splice site	probably null
R5410:Slc41a2	UTSW	10	83,117,232 (GRCm39)	critical splice donor site	probably null
R5748:Slc41a2	UTSW	10	83,133,023 (GRCm39)	missense	probably benign	0.00
R5808:Slc41a2	UTSW	10	83,149,362 (GRCm39)	missense	probably benign	0.29
R6124:Slc41a2	UTSW	10	83,133,116 (GRCm39)	missense	probably damaging	1.00
R6292:Slc41a2	UTSW	10	83,090,790 (GRCm39)	missense	probably damaging	0.99
R6511:Slc41a2	UTSW	10	83,119,652 (GRCm39)	missense	probably damaging	0.99
R6793:Slc41a2	UTSW	10	83,137,022 (GRCm39)	splice site	probably null
R6970:Slc41a2	UTSW	10	83,151,960 (GRCm39)	missense	possibly damaging	0.53
R7584:Slc41a2	UTSW	10	83,152,653 (GRCm39)	splice site	probably benign
R7752:Slc41a2	UTSW	10	83,091,905 (GRCm39)	missense	possibly damaging	0.73
R8289:Slc41a2	UTSW	10	83,137,044 (GRCm39)	missense	probably benign	0.06
R8700:Slc41a2	UTSW	10	83,152,097 (GRCm39)	missense	probably damaging	1.00
R9607:Slc41a2	UTSW	10	83,119,631 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16