Mutagenetix > Incidental Mutations

Incidental Mutation 'R8700:Slc41a2'

669010

Institutional Source

Beutler Lab

Gene Symbol

Slc41a2

Ensembl Gene

ENSMUSG00000034591

Gene Name

solute carrier family 41, member 2

Synonyms

A230035L05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R8700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83230848-83337882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83316233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 126 (E126G)

Ref Sequence

ENSEMBL: ENSMUSP00000036690 (fasta)

Gene Model

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

AlphaFold

Q8BYR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039956
AA Change: E126G

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

SMART Domains

Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: E126G

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

probably damaging
Transcript: ENSMUST00000154926
AA Change: E126G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,292,025	I1717N	possibly damaging	Het
4933414I15Rik	T	A	11: 50,942,517	D86V	unknown	Het
Abtb2	C	A	2: 103,566,944	T73K	probably damaging	Het
Akr1c14	T	C	13: 4,081,157		probably benign	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ano7	T	G	1: 93,388,607	I204S	probably damaging	Het
Arhgef39	T	A	4: 43,496,715	Q333L	probably benign	Het
Art5	T	C	7: 102,099,655		probably benign	Het
Asah1	T	C	8: 41,360,275	T34A	probably benign	Het
Atp9b	T	C	18: 80,753,146	E894G		Het
Atxn7l3	A	T	11: 102,293,921	M126K	possibly damaging	Het
Cacna2d4	A	G	6: 119,281,693	D580G	probably damaging	Het
Calcoco2	T	A	11: 96,103,504	K74N	probably benign	Het
Ccdc163	T	C	4: 116,714,151		probably null	Het
Cep164	T	C	9: 45,775,369		probably null	Het
Chd7	T	A	4: 8,833,892	N1215K	probably damaging	Het
Chsy3	T	C	18: 59,176,415	Y247H	probably damaging	Het
Clec16a	A	G	16: 10,688,558	Y714C	probably damaging	Het
Col12a1	A	G	9: 79,620,089	V2653A	probably benign	Het
D430042O09Rik	A	G	7: 125,829,870		probably benign	Het
Daam2	T	A	17: 49,496,152	K77N	probably damaging	Het
Dhx35	T	A	2: 158,840,632	M495K	possibly damaging	Het
Disp2	T	A	2: 118,789,859	C357*	probably null	Het
Dnah6	T	A	6: 73,075,890		probably benign	Het
Dnah7a	T	G	1: 53,495,929	D2724A	possibly damaging	Het
Entpd5	A	T	12: 84,396,734	D53E	probably damaging	Het
Fto	T	A	8: 91,522,833	I431N	probably damaging	Het
Gabrr2	T	C	4: 33,095,488	I459T	probably damaging	Het
Gm5565	T	A	5: 146,160,426	I29F	probably damaging	Het
Gm9195	C	T	14: 72,482,731	G87R	probably damaging	Het
Grin2a	T	C	16: 9,579,548	S892G	probably benign	Het
Mki67	T	C	7: 135,705,707	N106S		Het
Myo16	T	C	8: 10,413,172	S580P	unknown	Het
Neo1	A	G	9: 58,918,630	S672P	probably benign	Het
Nxph3	A	T	11: 95,510,880	V236E	probably damaging	Het
Olfr1406	G	T	1: 173,183,862	P191T	probably benign	Het
Olfr863-ps1	A	C	9: 19,941,700	L247V	unknown	Het
Pcdhb14	T	C	18: 37,449,599	V586A	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pja2	C	T	17: 64,292,954	D512N	probably damaging	Het
Ppfibp2	A	G	7: 107,746,395	T875A	possibly damaging	Het
Ppp3cc	C	A	14: 70,236,552	C332F	probably damaging	Het
Pramef25	T	A	4: 143,949,131	H375L	possibly damaging	Het
Psg18	A	T	7: 18,353,625	V36D	probably damaging	Het
Ptprh	A	G	7: 4,564,191	S561P	probably damaging	Het
Rhbdf2	G	A	11: 116,607,404		probably benign	Het
Ripk2	T	A	4: 16,158,422	N61I	possibly damaging	Het
Setdb2	T	C	14: 59,417,439	Y318C	probably damaging	Het
Shc1	A	G	3: 89,427,433	D533G	possibly damaging	Het
Sirpb1a	T	C	3: 15,411,359	E193G	probably damaging	Het
Srms	C	A	2: 181,206,728	A413S	probably damaging	Het
Tob2	G	T	15: 81,851,601	R56S	probably damaging	Het
Unc119	T	C	11: 78,347,311	I105T	probably benign	Het
Unc13c	T	C	9: 73,572,397	I1742V	probably benign	Het
Vmn1r46	C	T	6: 89,976,343	T58I	probably benign	Het
Vmn2r81	G	T	10: 79,293,683	V803F	probably damaging	Het
Zfp365	T	C	10: 67,909,705	K81R	possibly damaging	Het
Zfp974	G	T	7: 27,910,047	T751K	possibly damaging	Het
Zfpl1	T	C	19: 6,082,434	N149S	probably benign	Het

Other mutations in Slc41a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Slc41a2	APN	10	83313530	unclassified	probably benign
IGL02263:Slc41a2	APN	10	83313500	missense	possibly damaging	0.82
IGL02338:Slc41a2	APN	10	83316591	missense	possibly damaging	0.68
IGL02680:Slc41a2	APN	10	83283864	missense	probably benign	0.20
IGL02703:Slc41a2	APN	10	83254847	missense	probably damaging	1.00
IGL03039:Slc41a2	APN	10	83283858	missense	probably benign	0.37
PIT4508001:Slc41a2	UTSW	10	83254880	missense	probably damaging	0.99
R0326:Slc41a2	UTSW	10	83283746	missense	probably damaging	1.00
R0470:Slc41a2	UTSW	10	83316222	missense	possibly damaging	0.94
R0610:Slc41a2	UTSW	10	83283728	missense	possibly damaging	0.75
R1708:Slc41a2	UTSW	10	83233732	missense	probably damaging	1.00
R1765:Slc41a2	UTSW	10	83301266	missense	probably damaging	1.00
R1870:Slc41a2	UTSW	10	83301165	nonsense	probably null
R1875:Slc41a2	UTSW	10	83256085	missense	probably damaging	1.00
R2008:Slc41a2	UTSW	10	83304303	critical splice donor site	probably null
R2172:Slc41a2	UTSW	10	83283774	missense	probably benign	0.00
R4193:Slc41a2	UTSW	10	83301221	missense	probably damaging	0.97
R4789:Slc41a2	UTSW	10	83316456	missense	probably damaging	1.00
R4861:Slc41a2	UTSW	10	83316458	missense	probably damaging	0.99
R4861:Slc41a2	UTSW	10	83316458	missense	probably damaging	0.99
R4913:Slc41a2	UTSW	10	83313420	missense	probably damaging	1.00
R5012:Slc41a2	UTSW	10	83301263	missense	probably benign	0.02
R5140:Slc41a2	UTSW	10	83297291	missense	probably damaging	0.98
R5189:Slc41a2	UTSW	10	83313411	splice site	probably null
R5410:Slc41a2	UTSW	10	83281368	critical splice donor site	probably null
R5748:Slc41a2	UTSW	10	83297159	missense	probably benign	0.00
R5808:Slc41a2	UTSW	10	83313498	missense	probably benign	0.29
R6124:Slc41a2	UTSW	10	83297252	missense	probably damaging	1.00
R6292:Slc41a2	UTSW	10	83254926	missense	probably damaging	0.99
R6511:Slc41a2	UTSW	10	83283788	missense	probably damaging	0.99
R6793:Slc41a2	UTSW	10	83301158	splice site	probably null
R6970:Slc41a2	UTSW	10	83316096	missense	possibly damaging	0.53
R7584:Slc41a2	UTSW	10	83316789	splice site	probably benign
R7752:Slc41a2	UTSW	10	83256041	missense	possibly damaging	0.73
R8289:Slc41a2	UTSW	10	83301180	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CTGCACTATGTCCAAAACCATG -3'
(R):5'- CATGGTGCCAGTCATTTACCAG -3'

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

Posted On

2021-04-30