Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Slc30a3'

229143

Institutional Source

Beutler Lab

Gene Symbol

Slc30a3

Ensembl Gene

ENSMUSG00000029151

Gene Name

solute carrier family 30 (zinc transporter), member 3

Synonyms

Znt3

MMRRC Submission

040081-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R2076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31243450-31265581 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 31244165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 323 (Y323*)

Ref Sequence

ENSEMBL: ENSMUSP00000144566 (fasta)

Gene Model

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

AlphaFold

P97441

Predicted Effect

probably null
Transcript: ENSMUST00000031037
AA Change: Y372*

SMART Domains

Protein: ENSMUSP00000031037
Gene: ENSMUSG00000029151
AA Change: Y372*

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

probably null
Transcript: ENSMUST00000202740
AA Change: Y323*

SMART Domains

Protein: ENSMUSP00000144566
Gene: ENSMUSG00000029151
AA Change: Y323*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,178,478 (GRCm39)	V1165D	probably benign	Het
Acot11	T	C	4: 106,627,910 (GRCm39)	H103R	probably damaging	Het
Apba1	G	T	19: 23,870,587 (GRCm39)	E140*	probably null	Het
Bicdl1	A	T	5: 115,793,987 (GRCm39)	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,840,802 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,197,177 (GRCm39)	R160G	probably damaging	Het
Cct7	A	T	6: 85,445,122 (GRCm39)	I458F	probably damaging	Het
Cd3g	T	A	9: 44,885,595 (GRCm39)	D50V	probably damaging	Het
Ces2h	T	C	8: 105,745,660 (GRCm39)	L461P	probably benign	Het
Cplane1	T	A	15: 8,248,741 (GRCm39)	D1763E	possibly damaging	Het
Csn2	A	G	5: 87,844,033 (GRCm39)	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,816,576 (GRCm39)	V4D	probably benign	Het
Ddx3y	A	G	Y: 1,266,593 (GRCm39)		probably null	Het
Dipk1c	G	T	18: 84,755,033 (GRCm39)	D170Y	probably damaging	Het
Dlgap1	C	T	17: 71,093,826 (GRCm39)	Q716*	probably null	Het
Dlx6	A	G	6: 6,867,098 (GRCm39)	S234G	probably benign	Het
Dnah7a	T	C	1: 53,542,968 (GRCm39)	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,281,481 (GRCm39)	Y2847*	probably null	Het
Dpysl2	A	G	14: 67,102,571 (GRCm39)	S30P	probably damaging	Het
Elp1	T	C	4: 56,786,620 (GRCm39)	D441G	probably damaging	Het
Ezh2	A	T	6: 47,553,567 (GRCm39)	L50*	probably null	Het
Fam135b	T	A	15: 71,350,092 (GRCm39)	E349D	probably damaging	Het
Foxl3	A	G	5: 138,807,022 (GRCm39)	D100G	probably benign	Het
Frat2	T	C	19: 41,836,242 (GRCm39)	T37A	probably benign	Het
Hivep1	G	A	13: 42,317,869 (GRCm39)		probably null	Het
Ift25	T	C	4: 107,136,964 (GRCm39)	S121P	possibly damaging	Het
Impdh1	G	A	6: 29,205,162 (GRCm39)	A213V	probably damaging	Het
Irf2	G	T	8: 47,298,962 (GRCm39)	W252L	probably damaging	Het
Irx4	A	G	13: 73,416,384 (GRCm39)	D260G	probably damaging	Het
Kalrn	T	A	16: 34,152,513 (GRCm39)	H338L	probably benign	Het
Kif9	T	A	9: 110,314,100 (GRCm39)		probably null	Het
Klhl24	T	C	16: 19,936,628 (GRCm39)	V412A	probably damaging	Het
Lgals8	T	A	13: 12,469,750 (GRCm39)	K70*	probably null	Het
Mrtfb	T	C	16: 13,219,246 (GRCm39)	S631P	probably benign	Het
Myo1e	T	A	9: 70,291,159 (GRCm39)	N983K	probably benign	Het
Nipbl	T	C	15: 8,340,691 (GRCm39)	R2010G	probably benign	Het
Npw	A	T	17: 24,876,413 (GRCm39)	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,262,881 (GRCm39)	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,178,479 (GRCm39)	Y579H	probably damaging	Het
Pde8a	A	G	7: 80,958,693 (GRCm39)	T330A	probably benign	Het
Plxnb2	C	T	15: 89,042,229 (GRCm39)	V1592M	probably damaging	Het
Ppp2r3d	A	C	9: 101,021,570 (GRCm39)	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,465,364 (GRCm39)	I1349K	probably damaging	Het
Rad52	C	T	6: 119,888,040 (GRCm39)	H9Y	probably benign	Het
Rapgef1	A	G	2: 29,592,520 (GRCm39)	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,320,262 (GRCm39)	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,164,088 (GRCm39)	M273V	probably benign	Het
Shoc1	A	G	4: 59,082,410 (GRCm39)	V406A	possibly damaging	Het
Slc5a9	T	C	4: 111,742,770 (GRCm39)	I441V	possibly damaging	Het
Spast	G	C	17: 74,659,026 (GRCm39)	G131A	probably damaging	Het
Syne1	C	G	10: 4,990,897 (GRCm39)	W8444S	probably damaging	Het
Tgm4	G	T	9: 122,880,160 (GRCm39)	A211S	probably benign	Het
Themis2	T	C	4: 132,513,113 (GRCm39)	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Uba3	G	T	6: 97,176,241 (GRCm39)	D88E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,144 (GRCm39)	M111K	probably damaging	Het
Wdr35	C	T	12: 9,074,281 (GRCm39)	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,005,032 (GRCm39)	H356Q	possibly damaging	Het
Zfp180	A	G	7: 23,804,528 (GRCm39)	K316E	probably damaging	Het
Zfp518a	T	C	19: 40,902,771 (GRCm39)	L900P	probably damaging	Het
Zfp655	A	G	5: 145,181,410 (GRCm39)	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,157,334 (GRCm39)	Q344R	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
R2432:Slc30a3	UTSW	5	31,246,038 (GRCm39)	missense	probably damaging	1.00
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'- ACTTTGGTCTTGGCCACCAG -3'
(R):5'- AGGAAAATCAGGAGCCCTATTTG -3'

Sequencing Primer
(F):5'- CCAGGGCATGGGCTAGG -3'
(R):5'- GGCCTGGCCCCTTCACTC -3'

Posted On

2014-09-17