Mutagenetix > Incidental Mutation

Incidental Mutation 'R6292:Slc41a2'

508510

Institutional Source

Beutler Lab

Gene Symbol

Slc41a2

Ensembl Gene

ENSMUSG00000034591

Gene Name

solute carrier family 41, member 2

Synonyms

A230035L05Rik

MMRRC Submission

044461-MU

Accession Numbers

Essential gene?

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

Stock #

R6292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83066712-83173746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83090790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 465 (N465D)

Ref Sequence

ENSEMBL: ENSMUSP00000036690 (fasta)

Gene Model

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

AlphaFold

Q8BYR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039956
AA Change: N465D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: N465D

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

Meta Mutation Damage Score

0.0972

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,338,312 (GRCm39)	V709E	probably damaging	Het
Ankrd33b	C	T	15: 31,325,231 (GRCm39)		probably null	Het
Apaf1	T	C	10: 90,827,425 (GRCm39)	T1202A	possibly damaging	Het
Apip	G	T	2: 102,922,812 (GRCm39)	C210F	probably benign	Het
Chd9	A	T	8: 91,659,550 (GRCm39)	H170L	probably benign	Het
Clec16a	T	C	16: 10,378,015 (GRCm39)		probably null	Het
Ep300	T	A	15: 81,500,935 (GRCm39)		probably benign	Het
Etl4	C	T	2: 20,748,384 (GRCm39)	H39Y	probably damaging	Het
Gdap1l1	A	T	2: 163,293,427 (GRCm39)	I218F	probably damaging	Het
Gm5141	A	T	13: 62,922,252 (GRCm39)	C306S	probably damaging	Het
Gm9961	C	T	16: 11,748,336 (GRCm39)		noncoding transcript	Het
Gpr27	C	T	6: 99,670,619 (GRCm39)	S327L	possibly damaging	Het
Hectd3	A	C	4: 116,856,005 (GRCm39)	T435P	probably damaging	Het
Hs3st1	T	A	5: 39,772,133 (GRCm39)	Q170L	possibly damaging	Het
Hykk	T	C	9: 54,828,110 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,338 (GRCm39)	S92P	possibly damaging	Het
Lrig1	A	T	6: 94,593,426 (GRCm39)	N418K	probably damaging	Het
Miga1	A	G	3: 152,023,356 (GRCm39)	F232L	probably benign	Het
Mkrn2	T	A	6: 115,590,295 (GRCm39)	M217K	probably damaging	Het
Myh7b	A	T	2: 155,474,316 (GRCm39)	Q1677L	probably damaging	Het
N4bp1	T	C	8: 87,579,867 (GRCm39)	E645G	probably damaging	Het
Nckap5	T	C	1: 125,842,752 (GRCm39)	K1752E	probably damaging	Het
Nek1	A	G	8: 61,507,770 (GRCm39)		probably null	Het
Ntng1	T	C	3: 110,051,202 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,644,176 (GRCm39)	V730A	probably benign	Het
Or2t44	T	A	11: 58,677,063 (GRCm39)	M1K	probably null	Het
Or51v14	T	A	7: 103,261,386 (GRCm39)	H58L	probably damaging	Het
Paqr6	C	T	3: 88,275,205 (GRCm39)	P213S	probably damaging	Het
Pign	A	T	1: 105,512,802 (GRCm39)	V627D	possibly damaging	Het
Rasal1	T	A	5: 120,797,685 (GRCm39)	V139E	probably damaging	Het
Scgb1b24	G	T	7: 33,443,577 (GRCm39)	A79S	possibly damaging	Het
Slc25a28	T	C	19: 43,653,031 (GRCm39)	D210G	probably benign	Het
Slc38a3	A	T	9: 107,532,353 (GRCm39)	I393N	possibly damaging	Het
Slc5a5	G	A	8: 71,343,822 (GRCm39)	T160I	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Sorcs2	C	T	5: 36,219,931 (GRCm39)	R371H	probably damaging	Het
Taf4	A	G	2: 179,565,780 (GRCm39)	S872P	probably damaging	Het
Tdrd3	G	T	14: 87,743,690 (GRCm39)	C540F	probably benign	Het
Thumpd1	A	T	7: 119,319,897 (GRCm39)	L23Q	probably benign	Het
Top1	A	T	2: 160,540,061 (GRCm39)	Y213F	probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Unc79	C	A	12: 103,108,991 (GRCm39)	A2005D	possibly damaging	Het
Upb1	T	C	10: 75,274,005 (GRCm39)	L344P	probably damaging	Het
Vmn1r72	T	A	7: 11,403,579 (GRCm39)	S290C	probably benign	Het
Vmn2r103	A	G	17: 20,013,866 (GRCm39)	I219M	possibly damaging	Het
Wapl	A	G	14: 34,451,152 (GRCm39)	T729A	probably damaging	Het
Washc5	C	T	15: 59,227,783 (GRCm39)	R393H	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
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
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'- CAGTTTCTCAGCAGTGTGAGG -3'
(R):5'- TGGTTGACGTCCAAAGTTGTC -3'

Sequencing Primer
(F):5'- TGAGGGAGCCCAGGAGATCTTC -3'
(R):5'- GACGTCCAAAGTTGTCTTCCAATGTG -3'

Posted On

2018-03-15