Mutagenetix > Incidental Mutation

Incidental Mutation 'R8733:Slc41a3'

662856

Institutional Source

Beutler Lab

Gene Symbol

Slc41a3

Ensembl Gene

ENSMUSG00000030089

Gene Name

solute carrier family 41, member 3

Synonyms

1010001P06Rik, SLC41A1-L2

MMRRC Submission

068581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8733 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90581707-90623394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90610710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 191 (T191S)

Ref Sequence

ENSEMBL: ENSMUSP00000037473 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032177
AA Change: T165S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032177
Gene: ENSMUSG00000030089
AA Change: T165S

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

possibly damaging
Transcript: ENSMUST00000044019
AA Change: T191S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037473
Gene: ENSMUSG00000030089
AA Change: T191S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (52/52)

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
Abcc3	A	G	11: 94,249,627 (GRCm39)	L1106P	probably damaging	Het
Alx3	C	G	3: 107,512,135 (GRCm39)	P258A	probably damaging	Het
Bbs9	A	G	9: 22,582,128 (GRCm39)	T607A	probably benign	Het
Catsperg1	A	T	7: 28,891,111 (GRCm39)	V644E	possibly damaging	Het
Cep85	T	C	4: 133,875,472 (GRCm39)	K499E	possibly damaging	Het
Chd5	A	T	4: 152,463,923 (GRCm39)	H1464L	probably damaging	Het
Chrne	A	G	11: 70,507,856 (GRCm39)	L281P	probably damaging	Het
Col3a1	A	G	1: 45,379,472 (GRCm39)		probably benign	Het
Cpsf4l	A	G	11: 113,600,279 (GRCm39)	F13L	possibly damaging	Het
Dgcr8	T	C	16: 18,077,825 (GRCm39)	I603V	probably benign	Het
Dhx16	A	G	17: 36,192,267 (GRCm39)	D102G	probably benign	Het
Dnm1	G	T	2: 32,206,987 (GRCm39)	D564E	probably benign	Het
Dync1li1	T	A	9: 114,534,178 (GRCm39)	Y93N	probably damaging	Het
Esp31	A	G	17: 38,955,509 (GRCm39)	I51V	probably benign	Het
Grap	G	T	11: 61,562,517 (GRCm39)	A163S	possibly damaging	Het
Hgs	G	A	11: 120,360,954 (GRCm39)		probably null	Het
Icosl	A	T	10: 77,909,697 (GRCm39)	N214I	probably damaging	Het
Ints6	G	A	14: 62,934,297 (GRCm39)	P737S	probably benign	Het
Irag1	C	T	7: 110,477,425 (GRCm39)	V564M	probably benign	Het
Lima1	A	G	15: 99,678,699 (GRCm39)	S581P	probably damaging	Het
Lrfn2	G	A	17: 49,403,824 (GRCm39)	R649H	probably damaging	Het
Muc5b	A	G	7: 141,417,532 (GRCm39)	T3493A	possibly damaging	Het
Mup4	A	T	4: 59,958,587 (GRCm39)	N104K	probably damaging	Het
Nedd4	T	C	9: 72,633,766 (GRCm39)	V424A	possibly damaging	Het
Or10ag55-ps1	A	T	2: 87,115,116 (GRCm39)	I161F	probably benign	Het
Or6c88	T	A	10: 129,406,579 (GRCm39)	D18E	possibly damaging	Het
Or8d23	A	G	9: 38,841,985 (GRCm39)	I173V	probably benign	Het
Otop1	G	A	5: 38,457,117 (GRCm39)	R292H	probably damaging	Het
Otop1	T	A	5: 38,457,796 (GRCm39)	C518*	probably null	Het
Parp3	C	T	9: 106,353,150 (GRCm39)	V9M	probably benign	Het
Pcdhb20	C	T	18: 37,638,437 (GRCm39)	A321V	probably damaging	Het
Pik3c2g	C	T	6: 139,714,426 (GRCm39)	Q311*	probably null	Het
Pkd1l1	A	T	11: 8,883,657 (GRCm39)	V855D		Het
Polr2k	T	A	15: 36,176,913 (GRCm39)	D97E	probably benign	Het
Psmd11	A	G	11: 80,325,342 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,266,683 (GRCm39)	T631M	probably damaging	Het
Ralgps1	C	A	2: 33,174,836 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,024,211 (GRCm39)	S17P	probably damaging	Het
Rcc1	C	A	4: 132,065,515 (GRCm39)	L49F	probably benign	Het
Rgma	T	C	7: 73,059,036 (GRCm39)	S63P	possibly damaging	Het
Scn1a	T	A	2: 66,154,944 (GRCm39)	I672L	probably benign	Het
Sema4c	T	C	1: 36,591,954 (GRCm39)	T270A	probably damaging	Het
Serac1	A	G	17: 6,100,303 (GRCm39)	L479P	probably damaging	Het
Slc22a16	A	G	10: 40,450,061 (GRCm39)	M187V	probably benign	Het
Slu7	G	A	11: 43,334,167 (GRCm39)	V398M	probably damaging	Het
Sphk1	A	G	11: 116,426,451 (GRCm39)	T136A	probably benign	Het
Sqstm1	G	T	11: 50,101,493 (GRCm39)	P31Q	possibly damaging	Het
Trappc11	A	T	8: 47,954,883 (GRCm39)	V885D	probably damaging	Het
Trav6-1	T	A	14: 52,876,213 (GRCm39)	Y44*	probably null	Het
Trav9-2	T	A	14: 53,828,755 (GRCm39)	C42S	probably damaging	Het
Zc2hc1a	A	G	3: 7,593,168 (GRCm39)	T194A	probably benign	Het
Zfp729a	A	G	13: 67,769,104 (GRCm39)	V375A	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
R1591:Slc41a3	UTSW	6	90,610,677 (GRCm39)	missense	probably benign	0.02
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
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'- CCCTTGAGGTGACCAAAAGTC -3'
(R):5'- TCACTGCAAACCTCTCTGAG -3'

Sequencing Primer
(F):5'- CCAAAAGTCAGAAAGGACAGGG -3'
(R):5'- TGCAAACCTCTCTGAGAACCTTAAC -3'

Posted On

2021-03-08