Mutagenetix > Incidental Mutation

Incidental Mutation 'R0470:Slc41a2'

41805

Institutional Source

Beutler Lab

Gene Symbol

Slc41a2

Ensembl Gene

ENSMUSG00000034591

Gene Name

solute carrier family 41, member 2

Synonyms

A230035L05Rik

MMRRC Submission

038670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R0470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83066712-83173746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83152086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 130 (M130V)

Ref Sequence

ENSEMBL: ENSMUSP00000116482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039956] [ENSMUST00000126617] [ENSMUST00000154730] [ENSMUST00000154926]

AlphaFold

Q8BYR8

Predicted Effect

probably benign
Transcript: ENSMUST00000039956
AA Change: M130V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: M130V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126617

Predicted Effect

probably benign
Transcript: ENSMUST00000154730

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154926
AA Change: M130V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.0732

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	G	19: 8,986,331 (GRCm39)	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,248,500 (GRCm39)	L235H	probably damaging	Het
Ank	G	A	15: 27,571,721 (GRCm39)	C331Y	probably damaging	Het
Ankrd12	T	C	17: 66,293,129 (GRCm39)	E768G	probably benign	Het
Atm	A	T	9: 53,372,266 (GRCm39)	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,093,866 (GRCm39)	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccn4	A	G	15: 66,789,227 (GRCm39)	I238V	probably benign	Het
Cdadc1	A	T	14: 59,811,290 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,749,517 (GRCm39)	V155E	probably damaging	Het
Chp1	C	T	2: 119,391,244 (GRCm39)	R34C	probably damaging	Het
Cilp2	A	T	8: 70,338,055 (GRCm39)	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,023,074 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,514 (GRCm39)		probably benign	Het
Gja3	T	C	14: 57,273,884 (GRCm39)	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,722,280 (GRCm39)		noncoding transcript	Het
Herc6	C	T	6: 57,596,437 (GRCm39)	T459M	probably damaging	Het
Hexb	A	G	13: 97,314,507 (GRCm39)	L412P	probably damaging	Het
Il17ra	T	G	6: 120,458,767 (GRCm39)	D639E	probably benign	Het
Kcnh5	G	A	12: 75,161,188 (GRCm39)	T240I	probably benign	Het
Lef1	T	C	3: 130,906,475 (GRCm39)		probably benign	Het
Lilrb4a	T	A	10: 51,370,923 (GRCm39)	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,642,062 (GRCm39)	H342L	probably damaging	Het
Minar2	C	T	18: 59,208,711 (GRCm39)	R120C	probably damaging	Het
Nipal3	A	G	4: 135,174,683 (GRCm39)	V356A	probably damaging	Het
Or2a54	C	G	6: 43,093,558 (GRCm39)	A294G	probably null	Het
Or51i1	A	T	7: 103,670,877 (GRCm39)	I216N	probably damaging	Het
Plekha6	G	A	1: 133,200,045 (GRCm39)	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,036,504 (GRCm39)	I82T	probably damaging	Het
Prrc1	C	T	18: 57,496,469 (GRCm39)	T140M	probably damaging	Het
Psg22	A	C	7: 18,453,589 (GRCm39)	S95R	probably damaging	Het
Ptk6	T	C	2: 180,837,732 (GRCm39)	T396A	probably benign	Het
Ptov1	A	G	7: 44,514,235 (GRCm39)	S9P	probably damaging	Het
Scin	A	C	12: 40,123,291 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,717,593 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,229 (GRCm39)		probably benign	Het
Sf3a2	G	A	10: 80,640,388 (GRCm39)		probably benign	Het
Shmt1	T	C	11: 60,683,789 (GRCm39)	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,694,197 (GRCm39)	L7Q	probably benign	Het
Sorcs3	T	C	19: 48,785,956 (GRCm39)		probably null	Het
Tex24	C	T	8: 27,834,936 (GRCm39)	R155*	probably null	Het
Tgfb1	T	A	7: 25,387,355 (GRCm39)		probably benign	Het
Tmc5	A	G	7: 118,239,154 (GRCm39)	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,297,512 (GRCm39)	V131I	possibly damaging	Het
Trim66	A	G	7: 109,056,749 (GRCm39)		probably benign	Het
Tspoap1	T	C	11: 87,666,988 (GRCm39)	S1027P	probably damaging	Het
Usp34	C	T	11: 23,386,001 (GRCm39)	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,627,818 (GRCm39)	Y3S	probably benign	Het
Vmn1r231	G	A	17: 21,110,265 (GRCm39)	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,679,066 (GRCm39)	L249*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,773,148 (GRCm39)	Q491R	probably benign	Het
Vwf	G	A	6: 125,605,391 (GRCm39)	V925M	possibly damaging	Het
Zbtb6	A	C	2: 37,319,505 (GRCm39)	L141W	probably damaging	Het
Zranb1	G	T	7: 132,584,500 (GRCm39)	L615F	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
IGL02703:Slc41a2	APN	10	83,090,711 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGCACTATGTCCAAAACCATGCCAG -3'
(R):5'- ACTTACAAGACAAGTGCCAGTCCG -3'

Sequencing Primer
(F):5'- TGCCAGCAGAAACCGTTC -3'
(R):5'- TAAATGGCATCTGGCAGGAC -3'

Posted On

2013-05-23