Mutagenetix > Incidental Mutations

Incidental Mutation 'R2008:Slc41a2'

219271

Institutional Source

Beutler Lab

Gene Symbol

Slc41a2

Ensembl Gene

ENSMUSG00000034591

Gene Name

solute carrier family 41, member 2

Synonyms

A230035L05Rik

MMRRC Submission

040017-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83230848-83337882 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 83304303 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139329

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	C	T	5: 98,737,702	T156I	possibly damaging	Het
1700061G19Rik	A	G	17: 56,886,478	N608S	probably benign	Het
2510039O18Rik	T	A	4: 147,941,577	C185S	probably benign	Het
Actl6b	T	A	5: 137,569,330	S409T	probably damaging	Het
Adgrf2	T	C	17: 42,710,122	T604A	probably damaging	Het
Adprhl2	T	A	4: 126,317,344	D260V	probably benign	Het
Akap9	A	G	5: 3,960,131	E296G	possibly damaging	Het
Alg5	A	G	3: 54,746,473	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,905,897	W236R	probably damaging	Het
Atp11b	A	G	3: 35,855,122	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,432,726	T551S	probably benign	Het
Atp7b	A	T	8: 22,027,980	C281S	probably damaging	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,734,976		probably null	Het
Capn9	T	G	8: 124,591,685	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 122,643,293	V147A	probably damaging	Het
Ccdc83	T	A	7: 90,244,141	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,476	R357L	possibly damaging	Het
Celf1	A	T	2: 91,010,408	N367I	probably damaging	Het
Cep350	T	C	1: 155,914,721	I1363V	probably benign	Het
Colec12	T	A	18: 9,874,813	D696E	probably benign	Het
Ctbp1	C	T	5: 33,250,986	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,525,392	I293T	probably damaging	Het
D430042O09Rik	C	G	7: 125,860,566	H1189D	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dctn1	C	T	6: 83,189,956	T263I	probably damaging	Het
Ddx49	A	T	8: 70,295,444	V317E	probably damaging	Het
Edil3	G	A	13: 88,944,953		probably null	Het
Egflam	A	T	15: 7,237,804	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,819,865		probably null	Het
Gigyf2	T	G	1: 87,374,113		probably null	Het
Gm5346	A	T	8: 43,627,037	V50D	probably benign	Het
Heatr4	A	G	12: 83,979,740	S248P	probably benign	Het
Hist1h1c	C	G	13: 23,739,409	S187R	probably benign	Het
Hoxd1	A	T	2: 74,764,180	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,092	L305Q	probably damaging	Het
Itch	T	A	2: 155,210,459	C660S	possibly damaging	Het
Ivd	A	T	2: 118,871,500	I138F	probably benign	Het
Lcn4	G	T	2: 26,671,216	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 120,012,665	Y192H	probably damaging	Het
Mn1	T	C	5: 111,418,857	L231P	probably damaging	Het
Morc1	A	G	16: 48,565,646	D544G	probably benign	Het
Mthfd1	C	A	12: 76,297,519	T331K	probably damaging	Het
Myo18b	T	A	5: 112,873,557	Y546F	probably benign	Het
Nod1	T	C	6: 54,939,325	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,232,973	V563A	probably damaging	Het
Olfr1253	A	T	2: 89,752,073	C252S	possibly damaging	Het
Olfr46	T	C	7: 140,610,585	Y140H	probably damaging	Het
Olfr497	T	C	7: 108,423,182	F204L	probably benign	Het
Olfr904	T	C	9: 38,464,241	S67P	probably damaging	Het
Olfr998	A	G	2: 85,591,422	N294S	probably damaging	Het
Orc3	T	A	4: 34,611,049		probably null	Het
Otog	T	C	7: 46,264,074	V777A	probably benign	Het
Pbxip1	G	T	3: 89,448,713	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,478,263	D92G	probably damaging	Het
Phkb	T	A	8: 86,056,467	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,152,621	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,199,459	V3287A	probably damaging	Het
Polq	T	A	16: 37,062,482	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,585,757	S195P	probably damaging	Het
Prdm2	T	C	4: 143,134,947	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,825,905	T268S	possibly damaging	Het
Scd2	A	T	19: 44,303,171	T350S	probably benign	Het
Scn7a	T	A	2: 66,687,747	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,979,029	L259Q	probably damaging	Het
Senp6	A	G	9: 80,126,398	H701R	probably damaging	Het
Slx4	T	C	16: 3,979,921	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,185	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,540,511	T12M	probably benign	Het
Synj2	G	T	17: 5,996,946	E20D	probably damaging	Het
Tchh	G	T	3: 93,445,974	R907L	unknown	Het
Thsd1	A	G	8: 22,259,231	E645G	probably benign	Het
Tmem176b	A	T	6: 48,835,449	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,591,406		probably null	Het
Trim44	G	A	2: 102,400,377		probably benign	Het
Triml1	T	A	8: 43,130,605	R320W	probably damaging	Het
Trmt6	A	T	2: 132,806,909	C401*	probably null	Het
Trpv5	T	C	6: 41,659,728		probably null	Het
V1rd19	T	A	7: 24,003,301	L64*	probably null	Het
Vmn1r216	A	T	13: 23,099,491	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,860,500	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,801,713	V269A	probably benign	Het
Vps13d	A	T	4: 145,155,243	V1254D	probably benign	Het
Xpr1	T	C	1: 155,281,029		probably null	Het
Zan	T	A	5: 137,452,450	T1622S	unknown	Het
Zfp112	T	C	7: 24,126,751	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,513,125	P308L	possibly 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
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
R8700:Slc41a2	UTSW	10	83316233	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTAGCTCTATTGCAGTTAGAGG -3'
(R):5'- ACTTGTTCTGAGCACAGGC -3'

Sequencing Primer
(F):5'- CAGTTAGAGGGTTTTTCCATGTC -3'
(R):5'- GCACAGGCTGCACACAG -3'

Posted On

2014-08-25