Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Slc41a2'

426514

Institutional Source

Beutler Lab

Gene Symbol

Slc41a2

Ensembl Gene

ENSMUSG00000034591

Gene Name

solute carrier family 41, member 2

Synonyms

A230035L05Rik

MMRRC Submission

042979-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83230848-83337882 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 83281368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036690 (fasta)

Gene Model

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

AlphaFold

Q8BYR8

Predicted Effect

probably null
Transcript: ENSMUST00000039956

SMART Domains

Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,126,473		noncoding transcript	Het
Adam24	A	G	8: 40,681,064	M524V	probably benign	Het
Adamts20	T	A	15: 94,281,957	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,611,237	I1350L	probably damaging	Het
Arhgap17	A	G	7: 123,297,493		probably null	Het
Ascl5	A	T	1: 136,051,188	I129F	probably damaging	Het
AU040320	A	T	4: 126,823,716	H362L	possibly damaging	Het
Bpifb9a	A	T	2: 154,270,235	N564Y	probably benign	Het
Cdon	G	T	9: 35,470,035	D574Y	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Ces1e	T	A	8: 93,210,442	I334F	possibly damaging	Het
Clip2	G	A	5: 134,522,791	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,278,353	T195S	probably benign	Het
Csmd2	C	A	4: 128,548,819	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,699,284	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,547,448	T696M	probably benign	Het
Ep300	T	C	15: 81,648,854	M1704T	unknown	Het
Exoc2	A	G	13: 30,864,856	F738S	probably damaging	Het
Fis1	A	G	5: 136,965,566	E36G	probably damaging	Het
Galnt1	A	G	18: 24,267,547	I237V	probably benign	Het
Gspt1	A	T	16: 11,230,510	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hykk	G	A	9: 54,946,066	C224Y	probably damaging	Het
Ifi211	T	C	1: 173,906,263	T111A	probably benign	Het
Il17rd	T	C	14: 27,095,911	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,091,366	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,909,262	T213A	probably damaging	Het
Madd	C	T	2: 91,154,514	R1318Q	probably damaging	Het
Mecom	C	A	3: 29,997,721	A182S	probably benign	Het
Olfr1305	C	T	2: 111,873,292	A188T	probably damaging	Het
Olfr20	C	T	11: 73,353,806	P18S	probably benign	Het
Olfr272	C	A	4: 52,910,991	A268S	probably benign	Het
Olfr67	A	T	7: 103,787,374	V301E	probably damaging	Het
Otud4	T	A	8: 79,672,997	M780K	probably benign	Het
Pdia5	A	G	16: 35,453,536	V130A	probably damaging	Het
Phldb2	T	A	16: 45,825,612	H202L	possibly damaging	Het
Ppig	G	A	2: 69,735,897	G136E	probably null	Het
Prr14l	C	A	5: 32,827,777	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,188,330	V182A	possibly damaging	Het
Rai14	A	G	15: 10,574,938	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,497,047	I115T	probably benign	Het
Rc3h1	G	T	1: 160,964,963	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,918,291	Q21L	probably benign	Het
Rfx8	A	G	1: 39,710,156		probably null	Het
Scap	A	G	9: 110,374,182		probably null	Het
Shank1	T	A	7: 44,351,822	S988R	unknown	Het
Slc16a14	T	A	1: 84,907,424	I465F	probably damaging	Het
Tab2	T	C	10: 7,919,821	H225R	possibly damaging	Het
Tbx19	T	A	1: 165,160,372	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,530,106	I268K	probably damaging	Het
Tox2	A	G	2: 163,320,373	M388V	probably benign	Het
Trbv17	T	C	6: 41,163,538	L109P	probably damaging	Het
Trim72	A	G	7: 128,009,923	H299R	probably damaging	Het
Vmn1r63	C	T	7: 5,803,190	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,225,258	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,521,231	V724A	probably benign	Het
Zscan10	T	C	17: 23,610,421	F569L	probably damaging	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
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
R8700:Slc41a2	UTSW	10	83316233	missense	probably damaging	1.00
R9607:Slc41a2	UTSW	10	83283767	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCCTTAAAAGTCAGGTGTGC -3'
(R):5'- TCCTGACAGGTGGAGTTGTC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CTGAATGTTGGACCAAGTTGAGATC -3'

Posted On

2016-09-01