Mutagenetix > Incidental Mutations

Incidental Mutation 'R5039:Slc41a3'

List |< first << previous [record 45 of 53] next >> last >|

395697

Institutional Source

Beutler Lab

Gene Symbol

Slc41a3

Ensembl Gene

ENSMUSG00000030089

Gene Name

solute carrier family 41, member 3

Synonyms

1010001P06Rik, SLC41A1-L2

MMRRC Submission

042629-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5039 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

90604725-90646412 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90626417 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 140 (Y140C)

Ref Sequence

ENSEMBL: ENSMUSP00000037473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032177] [ENSMUST00000044019]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032177
AA Change: Y114C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032177
Gene: ENSMUSG00000030089
AA Change: Y114C

Domain	Start	End	E-Value	Type
transmembrane domain	42	64	N/A	INTRINSIC
Pfam:MgtE	80	214	3.4e-27	PFAM
transmembrane domain	224	246	N/A	INTRINSIC
transmembrane domain	258	277	N/A	INTRINSIC
Pfam:MgtE	293	437	9.8e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000044019
AA Change: Y140C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037473
Gene: ENSMUSG00000030089
AA Change: Y140C

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:MgtE	106	240	2.5e-27	PFAM
transmembrane domain	250	272	N/A	INTRINSIC
transmembrane domain	284	303	N/A	INTRINSIC
Pfam:MgtE	319	463	7.2e-27	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered magnesium ion homeostasis including hypomagnesemia. A subset of homozygotes develop severe unilateral hydronephrosis when fed a low magnesium diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	C	17: 33,067,760	C23G	probably damaging	Het
Abcg4	G	A	9: 44,281,566	A161V	probably damaging	Het
Anapc2	T	C	2: 25,274,796	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,199,736	D396G	probably benign	Het
Axl	C	T	7: 25,785,915	V163M	probably damaging	Het
Blm	G	A	7: 80,505,873	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,990,762	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,158,648		probably null	Het
Ccdc87	T	C	19: 4,840,401		probably null	Het
Cdhr1	T	C	14: 37,079,643	N781S	probably benign	Het
Ctr9	C	A	7: 111,042,857	H297Q	probably benign	Het
Cyp2c55	A	G	19: 39,038,143	D398G	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnmt3l	T	C	10: 78,052,900		probably null	Het
Dock4	C	A	12: 40,817,746	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,195,317		probably null	Het
Fam120a	A	T	13: 48,910,250		probably null	Het
Fanca	T	C	8: 123,284,046	D908G	probably benign	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm3633	A	C	14: 42,639,204	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,396,989		noncoding transcript	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Gpr139	A	G	7: 119,144,942	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,461,394	T13K	probably benign	Het
Itgb2l	T	C	16: 96,425,005	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,709,500	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,077,486	G663D	probably damaging	Het
Lama1	A	G	17: 67,745,893	D407G	possibly damaging	Het
Macf1	T	C	4: 123,511,220	K391R	probably damaging	Het
Magi3	A	T	3: 104,105,791	S127T	probably damaging	Het
Map2	A	T	1: 66,438,796	D1759V	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,822,711	D447G	probably damaging	Het
Ndufb7	A	G	8: 83,571,465		probably benign	Het
Nt5e	T	A	9: 88,363,581	N301K	probably benign	Het
Olfr944	T	A	9: 39,218,114	Y252*	probably null	Het
Olfr960	A	T	9: 39,623,560	T146S	possibly damaging	Het
Pcdh10	A	G	3: 45,381,861	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,754,856	V670A	probably benign	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Ric3	G	C	7: 109,038,723	S274R	probably benign	Het
Rimbp3	A	G	16: 17,213,331	T1540A	probably damaging	Het
Rnf165	A	G	18: 77,462,912	S107P	probably damaging	Het
Rp1l1	A	T	14: 64,031,356	M1464L	probably benign	Het
Ssb	A	T	2: 69,866,237	E38D	possibly damaging	Het
Syt14	A	T	1: 193,026,984	I16N	probably damaging	Het
Tet3	T	C	6: 83,375,896	T973A	probably damaging	Het
Tial1	T	C	7: 128,443,968		probably benign	Het
Tnfrsf1a	A	G	6: 125,360,712	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,675,945	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,015,493	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,042,239	D1006G	probably damaging	Het

Other mutations in Slc41a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Slc41a3	APN	6	90645714	missense	probably damaging	1.00
IGL02583:Slc41a3	APN	6	90644171	missense	probably damaging	0.99
PIT4378001:Slc41a3	UTSW	6	90640909	missense	probably benign	0.36
R1076:Slc41a3	UTSW	6	90644160	missense	probably benign
R1529:Slc41a3	UTSW	6	90644216	missense	probably damaging	0.99
R1591:Slc41a3	UTSW	6	90633695	missense	probably benign	0.02
R1985:Slc41a3	UTSW	6	90642228	missense	probably damaging	1.00
R2133:Slc41a3	UTSW	6	90626381	missense	probably damaging	0.99
R2308:Slc41a3	UTSW	6	90612120	missense	possibly damaging	0.51
R2384:Slc41a3	UTSW	6	90626411	missense	probably damaging	0.98
R2697:Slc41a3	UTSW	6	90642320	missense	possibly damaging	0.81
R3237:Slc41a3	UTSW	6	90636865	missense	probably benign	0.10
R4287:Slc41a3	UTSW	6	90640922	missense	probably benign	0.00
R4394:Slc41a3	UTSW	6	90635330	missense	probably damaging	1.00
R5195:Slc41a3	UTSW	6	90633671	missense	probably damaging	1.00
R5293:Slc41a3	UTSW	6	90626444	missense	probably damaging	0.99
R5338:Slc41a3	UTSW	6	90612171	missense	possibly damaging	0.93
R5608:Slc41a3	UTSW	6	90640907	missense	probably benign	0.06
R5681:Slc41a3	UTSW	6	90640946	missense	probably damaging	0.99
R5783:Slc41a3	UTSW	6	90619542	missense	probably benign	0.06
R6648:Slc41a3	UTSW	6	90619508	missense	probably damaging	0.99
R7867:Slc41a3	UTSW	6	90640927	missense	probably damaging	0.96
X0025:Slc41a3	UTSW	6	90635322	missense	probably damaging	1.00
Z1177:Slc41a3	UTSW	6	90619573	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAGTAGGTCACCATCTAGAAAGC -3'
(R):5'- TCACTATGCCACAGATACCGTC -3'

Sequencing Primer
(F):5'- GGTCACCATCTAGAAAGCTTAATAG -3'
(R):5'- GGTGGCCACATAGACAACTGTC -3'

Posted On

2016-06-21