Mutagenetix > Incidental Mutation

Incidental Mutation 'R2432:Slc30a3'

250438

Institutional Source

Beutler Lab

Gene Symbol

Slc30a3

Ensembl Gene

ENSMUSG00000029151

Gene Name

solute carrier family 30 (zinc transporter), member 3

Synonyms

Znt3

MMRRC Submission

040393-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R2432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31243450-31265581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31246038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 231 (S231G)

Ref Sequence

ENSEMBL: ENSMUSP00000031037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031037] [ENSMUST00000200906] [ENSMUST00000201396] [ENSMUST00000201783] [ENSMUST00000202731] [ENSMUST00000202740]

AlphaFold

P97441

Predicted Effect

probably damaging
Transcript: ENSMUST00000031037
AA Change: S231G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031037
Gene: ENSMUSG00000029151
AA Change: S231G

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
Pfam:Cation_efflux	76	293	7.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200906

SMART Domains

Protein: ENSMUSP00000144098
Gene: ENSMUSG00000029151

Domain	Start	End	E-Value	Type
low complexity region	19	36	N/A	INTRINSIC
Pfam:Cation_efflux	64	173	2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201396

SMART Domains

Protein: ENSMUSP00000144295
Gene: ENSMUSG00000029151

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	27	124	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201783

Predicted Effect

probably benign
Transcript: ENSMUST00000202731

SMART Domains

Protein: ENSMUSP00000144574
Gene: ENSMUSG00000029151

Domain	Start	End	E-Value	Type
low complexity region	50	58	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202740
AA Change: S182G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144566
Gene: ENSMUSG00000029151
AA Change: S182G

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	27	244	3e-46	PFAM

Meta Mutation Damage Score

0.4312

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: While zinc is absent from synaptic vesicles in homozygous null mice, inactivation of this locus does not affect brain morphology. [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
Abca13	T	C	11: 9,401,333 (GRCm39)		probably benign	Het
Adamts6	A	T	13: 104,563,485 (GRCm39)	Y659F	probably benign	Het
Adamts9	C	A	6: 92,834,881 (GRCm39)	G750W	probably damaging	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Aspscr1	A	G	11: 120,593,392 (GRCm39)		probably benign	Het
Calr3	A	G	8: 73,192,270 (GRCm39)		probably benign	Het
Cpt2	A	T	4: 107,761,723 (GRCm39)	Y126*	probably null	Het
Cyp2d34	A	G	15: 82,503,212 (GRCm39)	L94P	probably damaging	Het
Def6	A	T	17: 28,447,043 (GRCm39)	D558V	probably benign	Het
Dnase1l2	G	A	17: 24,661,699 (GRCm39)	T20I	possibly damaging	Het
Eif5b	A	G	1: 38,058,423 (GRCm39)	K242E	unknown	Het
Golim4	T	C	3: 75,799,249 (GRCm39)	N478S	possibly damaging	Het
Helb	A	T	10: 119,941,442 (GRCm39)	D415E	probably benign	Het
Ifna12	T	A	4: 88,521,590 (GRCm39)		probably benign	Het
Jhy	T	A	9: 40,872,182 (GRCm39)	H109L	probably benign	Het
Krt87	A	T	15: 101,386,037 (GRCm39)	Y241*	probably null	Het
Macf1	G	T	4: 123,577,789 (GRCm39)	A65E	probably damaging	Het
Mug2	C	A	6: 122,061,335 (GRCm39)	N1418K	possibly damaging	Het
Myo1f	A	G	17: 33,794,823 (GRCm39)	D21G	probably damaging	Het
Myo5a	T	A	9: 75,120,155 (GRCm39)	I1651N	possibly damaging	Het
Notch3	A	T	17: 32,372,778 (GRCm39)	C598S	probably damaging	Het
Npat	A	T	9: 53,469,435 (GRCm39)	H307L	probably damaging	Het
Nr1h2	T	C	7: 44,200,791 (GRCm39)	Q279R	possibly damaging	Het
Or4k52	T	C	2: 111,611,016 (GRCm39)	V117A	probably benign	Het
Or6c6c	A	G	10: 129,540,794 (GRCm39)	T16A	possibly damaging	Het
Pcdhb16	A	T	18: 37,612,983 (GRCm39)	N648Y	probably damaging	Het
Pdzrn3	G	T	6: 101,127,752 (GRCm39)	S971R	probably damaging	Het
Plch2	A	G	4: 155,070,621 (GRCm39)	*494Q	probably null	Het
Plekhg4	T	A	8: 106,108,468 (GRCm39)	D1170E	probably benign	Het
Plekhm3	A	G	1: 64,977,015 (GRCm39)	S152P	probably damaging	Het
Ppargc1b	G	A	18: 61,440,870 (GRCm39)	P683S	possibly damaging	Het
Prdm12	T	G	2: 31,541,864 (GRCm39)	M191R	probably benign	Het
Prdm14	T	C	1: 13,195,857 (GRCm39)	D68G	probably benign	Het
Prp2	C	T	6: 132,576,874 (GRCm39)	P54S	unknown	Het
Prpf4b	A	G	13: 35,067,324 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,468,840 (GRCm39)	V1408E	probably damaging	Het
Rap1gds1	A	G	3: 138,662,011 (GRCm39)	M415T	probably damaging	Het
Rps6ka5	A	G	12: 100,520,664 (GRCm39)	F621S	probably damaging	Het
Rrm1	T	A	7: 102,092,279 (GRCm39)	D35E	probably benign	Het
Rxfp3	T	C	15: 11,036,226 (GRCm39)	H382R	probably damaging	Het
Slc11a1	A	G	1: 74,422,910 (GRCm39)		probably benign	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc44a2	A	T	9: 21,256,130 (GRCm39)	I274F	probably damaging	Het
Tas2r119	A	G	15: 32,178,165 (GRCm39)	I244V	possibly damaging	Het
Tenm2	C	A	11: 35,918,018 (GRCm39)	R1914L	probably damaging	Het
Tfdp2	T	C	9: 96,192,643 (GRCm39)	M242T	probably damaging	Het
Tmprss6	A	G	15: 78,349,304 (GRCm39)		probably benign	Het
Ttc6	C	T	12: 57,668,821 (GRCm39)	P421L	possibly damaging	Het
Usp16	T	A	16: 87,263,246 (GRCm39)		probably null	Het
Usp40	T	C	1: 87,909,804 (GRCm39)	E550G	probably benign	Het
Vmn2r28	T	C	7: 5,491,701 (GRCm39)	Y182C	probably damaging	Het
Zfp382	A	G	7: 29,833,174 (GRCm39)	D275G	probably benign	Het

Other mutations in Slc30a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00803:Slc30a3	APN	5	31,245,388 (GRCm39)	missense	probably damaging	1.00
IGL01411:Slc30a3	APN	5	31,247,424 (GRCm39)	missense	probably benign	0.00
IGL02678:Slc30a3	APN	5	31,245,676 (GRCm39)	nonsense	probably null
R0606:Slc30a3	UTSW	5	31,246,067 (GRCm39)	missense	probably benign	0.02
R1173:Slc30a3	UTSW	5	31,244,154 (GRCm39)	missense	probably damaging	1.00
R1184:Slc30a3	UTSW	5	31,247,510 (GRCm39)	missense	probably damaging	1.00
R1924:Slc30a3	UTSW	5	31,245,748 (GRCm39)	missense	probably damaging	1.00
R2076:Slc30a3	UTSW	5	31,244,165 (GRCm39)	nonsense	probably null
R3552:Slc30a3	UTSW	5	31,252,422 (GRCm39)	intron	probably benign
R4011:Slc30a3	UTSW	5	31,244,203 (GRCm39)	missense	probably damaging	1.00
R4731:Slc30a3	UTSW	5	31,250,638 (GRCm39)	missense	probably benign
R4956:Slc30a3	UTSW	5	31,244,247 (GRCm39)	missense	possibly damaging	0.92
R5469:Slc30a3	UTSW	5	31,246,004 (GRCm39)	missense	probably damaging	1.00
R6364:Slc30a3	UTSW	5	31,246,083 (GRCm39)	missense	possibly damaging	0.90
R6799:Slc30a3	UTSW	5	31,246,958 (GRCm39)	missense	probably damaging	1.00
R7182:Slc30a3	UTSW	5	31,247,014 (GRCm39)	missense	probably damaging	1.00
R7182:Slc30a3	UTSW	5	31,244,169 (GRCm39)	missense	probably benign
R7195:Slc30a3	UTSW	5	31,246,139 (GRCm39)	missense	probably benign	0.04
R7260:Slc30a3	UTSW	5	31,245,690 (GRCm39)	missense	probably damaging	0.99
R8057:Slc30a3	UTSW	5	31,247,395 (GRCm39)	splice site	probably benign
R8836:Slc30a3	UTSW	5	31,250,668 (GRCm39)	missense	possibly damaging	0.91
R8855:Slc30a3	UTSW	5	31,245,325 (GRCm39)	missense	possibly damaging	0.62
R8866:Slc30a3	UTSW	5	31,245,325 (GRCm39)	missense	possibly damaging	0.62
R9193:Slc30a3	UTSW	5	31,246,088 (GRCm39)	missense	probably damaging	1.00
R9456:Slc30a3	UTSW	5	31,246,889 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGCACCCTGGGACTCTTG -3'
(R):5'- TCTTTCTGGGACGGGAAAGAGG -3'

Sequencing Primer
(F):5'- CCAAAGCTAGGAGAGGCCCTG -3'
(R):5'- AGAGGTGGAGGTGGGTACTG -3'

Posted On

2014-11-12