Mutagenetix > Incidental Mutation

Incidental Mutation 'R1591:Slc41a3'

175486

Institutional Source

Beutler Lab

Gene Symbol

Slc41a3

Ensembl Gene

ENSMUSG00000030089

Gene Name

solute carrier family 41, member 3

Synonyms

1010001P06Rik, SLC41A1-L2

MMRRC Submission

039628-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1591 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

90581707-90623394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 90610677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 180 (K180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000037473 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032177
AA Change: K154Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000032177
Gene: ENSMUSG00000030089
AA Change: K154Q

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 benign
Transcript: ENSMUST00000044019
AA Change: K180Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000037473
Gene: ENSMUSG00000030089
AA Change: K180Q

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

0.0934

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

100% (80/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	G	T	5: 100,957,505 (GRCm39)	Q201K	probably benign	Het
Acacb	A	T	5: 114,341,484 (GRCm39)	I829F	possibly damaging	Het
Acvr1b	G	T	15: 101,091,905 (GRCm39)	V62L	probably benign	Het
Adam6b	A	T	12: 113,453,452 (GRCm39)	I90F	probably benign	Het
Adgrf1	T	C	17: 43,621,872 (GRCm39)	L703P	probably damaging	Het
Arf3	T	C	15: 98,640,669 (GRCm39)		probably benign	Het
Asns	T	C	6: 7,678,007 (GRCm39)	D357G	probably damaging	Het
Atr	T	C	9: 95,827,438 (GRCm39)	M2461T	probably damaging	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Bod1l	T	C	5: 41,976,563 (GRCm39)	I1584V	probably benign	Het
Bub3	T	C	7: 131,163,337 (GRCm39)		probably null	Het
Camkk2	A	G	5: 122,895,621 (GRCm39)		probably null	Het
Cand1	G	T	10: 119,047,774 (GRCm39)	T572K	possibly damaging	Het
Caprin2	A	T	6: 148,774,606 (GRCm39)	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,873,799 (GRCm39)	T452A	probably benign	Het
Cdh4	T	C	2: 179,528,657 (GRCm39)		probably null	Het
Cfap61	A	G	2: 145,987,378 (GRCm39)	R1060G	probably benign	Het
Chd9	A	G	8: 91,710,166 (GRCm39)	D314G	probably damaging	Het
Cplx3	C	T	9: 57,523,085 (GRCm39)	V125I	probably benign	Het
Csmd1	T	A	8: 15,950,710 (GRCm39)	I3500F	probably damaging	Het
Dnah1	G	T	14: 30,994,289 (GRCm39)	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,053,583 (GRCm39)	E2884K	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Exosc10	T	A	4: 148,652,840 (GRCm39)	I485N	probably benign	Het
Fap	T	C	2: 62,384,201 (GRCm39)	K2E	probably damaging	Het
Fgfr1	G	A	8: 26,062,736 (GRCm39)	G671D	probably damaging	Het
Fzr1	C	T	10: 81,206,201 (GRCm39)	R162Q	possibly damaging	Het
Grap2	A	T	15: 80,532,649 (GRCm39)	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200 (GRCm39)	W246R	probably damaging	Het
Kcna3	A	T	3: 106,944,345 (GRCm39)	I203F	probably damaging	Het
Kcng1	T	C	2: 168,110,630 (GRCm39)	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,680,057 (GRCm39)	H798P	probably benign	Het
Kif21b	T	C	1: 136,077,055 (GRCm39)	L359P	probably damaging	Het
Krt6a	A	T	15: 101,600,792 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,441,475 (GRCm39)	S216N	probably benign	Het
Lrp3	A	G	7: 34,901,790 (GRCm39)	V676A	probably benign	Het
Lrrc63	T	A	14: 75,363,332 (GRCm39)	K266N	possibly damaging	Het
Mccc1	C	T	3: 36,044,006 (GRCm39)	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092 (GRCm39)	V1395A	possibly damaging	Het
Mmrn1	A	T	6: 60,921,755 (GRCm39)	R71*	probably null	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Ogdh	T	C	11: 6,299,384 (GRCm39)	F750S	probably damaging	Het
Or1ak2	C	A	2: 36,827,990 (GRCm39)	N286K	probably damaging	Het
Or51aa2	T	G	7: 103,188,274 (GRCm39)	T56P	probably benign	Het
Or5p60	T	A	7: 107,723,571 (GRCm39)	I300F	possibly damaging	Het
Or8b3	A	G	9: 38,314,232 (GRCm39)	T18A	probably damaging	Het
Or8b42	A	T	9: 38,341,707 (GRCm39)	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,030,353 (GRCm39)	I194L	probably benign	Het
Pacsin2	T	C	15: 83,269,252 (GRCm39)	E14G	probably damaging	Het
Pate7	T	C	9: 35,687,952 (GRCm39)	D96G	probably damaging	Het
Pcdh7	A	G	5: 57,877,764 (GRCm39)	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,618,878 (GRCm39)	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,693,904 (GRCm39)	R109K	probably benign	Het
Ppp2ca	T	C	11: 51,989,916 (GRCm39)	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,258,278 (GRCm39)	T102S	probably damaging	Het
Rsf1	T	A	7: 97,288,520 (GRCm39)	C132*	probably null	Het
Rufy1	G	A	11: 50,285,755 (GRCm39)	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,074,135 (GRCm39)	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,145,819 (GRCm39)	E172G	probably damaging	Het
Skint5	C	T	4: 113,856,651 (GRCm39)		probably null	Het
Slc25a27	A	G	17: 43,964,315 (GRCm39)	I185T	probably benign	Het
Slc7a14	A	C	3: 31,291,598 (GRCm39)	F227V	probably damaging	Het
Smg1	T	C	7: 117,756,142 (GRCm39)		probably benign	Het
St6galnac1	A	T	11: 116,656,689 (GRCm39)	D483E	probably damaging	Het
Tes	A	G	6: 17,097,441 (GRCm39)	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471 (GRCm39)	D290Y	probably damaging	Het
Tifab	T	A	13: 56,324,164 (GRCm39)	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,848,196 (GRCm39)		probably null	Het
Tnfrsf21	T	A	17: 43,396,265 (GRCm39)	S516R	probably benign	Het
Ttn	T	C	2: 76,606,389 (GRCm39)	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747 (GRCm39)	S3692T	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zfp113	T	C	5: 138,149,459 (GRCm39)		probably benign	Het
Zfp26	T	C	9: 20,348,921 (GRCm39)	T548A	probably benign	Het
Zfp870	C	T	17: 33,102,990 (GRCm39)	G114D	probably damaging	Het

Other mutations in Slc41a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Slc41a3	APN	6	90,622,696 (GRCm39)	missense	probably damaging	1.00
IGL02583:Slc41a3	APN	6	90,621,153 (GRCm39)	missense	probably damaging	0.99
PIT4378001:Slc41a3	UTSW	6	90,617,891 (GRCm39)	missense	probably benign	0.36
R1076:Slc41a3	UTSW	6	90,621,142 (GRCm39)	missense	probably benign
R1529:Slc41a3	UTSW	6	90,621,198 (GRCm39)	missense	probably damaging	0.99
R1985:Slc41a3	UTSW	6	90,619,210 (GRCm39)	missense	probably damaging	1.00
R2133:Slc41a3	UTSW	6	90,603,363 (GRCm39)	missense	probably damaging	0.99
R2308:Slc41a3	UTSW	6	90,589,102 (GRCm39)	missense	possibly damaging	0.51
R2384:Slc41a3	UTSW	6	90,603,393 (GRCm39)	missense	probably damaging	0.98
R2697:Slc41a3	UTSW	6	90,619,302 (GRCm39)	missense	possibly damaging	0.81
R3237:Slc41a3	UTSW	6	90,613,847 (GRCm39)	missense	probably benign	0.10
R4287:Slc41a3	UTSW	6	90,617,904 (GRCm39)	missense	probably benign	0.00
R4394:Slc41a3	UTSW	6	90,612,312 (GRCm39)	missense	probably damaging	1.00
R5039:Slc41a3	UTSW	6	90,603,399 (GRCm39)	missense	probably damaging	1.00
R5195:Slc41a3	UTSW	6	90,610,653 (GRCm39)	missense	probably damaging	1.00
R5293:Slc41a3	UTSW	6	90,603,426 (GRCm39)	missense	probably damaging	0.99
R5338:Slc41a3	UTSW	6	90,589,153 (GRCm39)	missense	possibly damaging	0.93
R5608:Slc41a3	UTSW	6	90,617,889 (GRCm39)	missense	probably benign	0.06
R5681:Slc41a3	UTSW	6	90,617,928 (GRCm39)	missense	probably damaging	0.99
R5783:Slc41a3	UTSW	6	90,596,524 (GRCm39)	missense	probably benign	0.06
R6648:Slc41a3	UTSW	6	90,596,490 (GRCm39)	missense	probably damaging	0.99
R7867:Slc41a3	UTSW	6	90,617,909 (GRCm39)	missense	probably damaging	0.96
R8733:Slc41a3	UTSW	6	90,610,710 (GRCm39)	missense	possibly damaging	0.95
R8776:Slc41a3	UTSW	6	90,621,165 (GRCm39)	missense	probably benign	0.06
R8776-TAIL:Slc41a3	UTSW	6	90,621,165 (GRCm39)	missense	probably benign	0.06
R8905:Slc41a3	UTSW	6	90,589,123 (GRCm39)	missense	probably benign	0.11
R9365:Slc41a3	UTSW	6	90,612,327 (GRCm39)	missense	probably benign	0.05
R9747:Slc41a3	UTSW	6	90,621,138 (GRCm39)	missense	probably benign	0.37
X0025:Slc41a3	UTSW	6	90,612,304 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc41a3	UTSW	6	90,596,555 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCACATGGGACAGAGGTAGACAG -3'
(R):5'- TCATCAGCAGGGAGTGGCAAAC -3'

Sequencing Primer
(F):5'- TAGACAGGGAGGCTCTCCAG -3'
(R):5'- TCACTGCAAACCTCTCTGAG -3'

Posted On

2014-04-24