Mutagenetix > Incidental Mutation

Incidental Mutation 'R9456:Slc30a3'

714576

Institutional Source

Beutler Lab

Gene Symbol

Slc30a3

Ensembl Gene

ENSMUSG00000029151

Gene Name

solute carrier family 30 (zinc transporter), member 3

Synonyms

Znt3

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9456 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

31243450-31265581 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AGGGCTTACCTGAGCGG to AGG at 31246889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031037 (fasta)

Gene Model

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

AlphaFold

P97441

Predicted Effect

probably null
Transcript: ENSMUST00000031037

SMART Domains

Protein: ENSMUSP00000031037
Gene: ENSMUSG00000029151

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 null
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 null
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

SMART Domains

Protein: ENSMUSP00000144566
Gene: ENSMUSG00000029151

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	C	18: 10,645,121 (GRCm39)	D391G	probably benign	Het
Arhgdia	A	C	11: 120,470,068 (GRCm39)	W202G	probably damaging	Het
Atp2a3	A	T	11: 72,871,131 (GRCm39)	D575V	probably benign	Het
Cep350	C	A	1: 155,744,457 (GRCm39)	V2121L	probably benign	Het
Clcn2	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 20,534,702 (GRCm39)		probably benign	Het
Cldn9	A	T	17: 23,902,556 (GRCm39)	V23E	probably damaging	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Cmbl	A	G	15: 31,589,948 (GRCm39)	D226G	probably damaging	Het
Dennd4b	C	T	3: 90,178,515 (GRCm39)	T537I	probably damaging	Het
Dnah7b	C	A	1: 46,165,953 (GRCm39)	D539E	possibly damaging	Het
Fam219a	T	C	4: 41,521,871 (GRCm39)	T70A	probably damaging	Het
Fat4	T	A	3: 38,942,571 (GRCm39)	V488E	possibly damaging	Het
Gm3336	A	G	8: 71,174,740 (GRCm39)	*96W	probably null	Het
Hectd1	A	G	12: 51,832,584 (GRCm39)	I930T	probably benign	Het
Hmcn1	A	T	1: 150,506,053 (GRCm39)	C3824*	probably null	Het
Ift140	T	C	17: 25,254,758 (GRCm39)	F413L	probably benign	Het
Itfg1	A	G	8: 86,565,566 (GRCm39)	V90A	probably benign	Het
Jph4	A	T	14: 55,351,090 (GRCm39)	W309R	probably damaging	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Klhl5	T	C	5: 65,305,939 (GRCm39)	F302S	probably damaging	Het
Klk1b8	T	C	7: 43,453,177 (GRCm39)	M256T	probably benign	Het
Klre1	A	T	6: 129,559,368 (GRCm39)	R99S	probably benign	Het
Krt79	T	C	15: 101,839,904 (GRCm39)	T364A	probably benign	Het
Lin7a	C	T	10: 107,218,483 (GRCm39)	P131L	possibly damaging	Het
Lrrc49	A	G	9: 60,594,699 (GRCm39)	Y9H	probably benign	Het
Lrrc8a	T	A	2: 30,145,663 (GRCm39)	I159N	probably damaging	Het
Mdga2	T	C	12: 66,615,532 (GRCm39)	S692G	probably benign	Het
Myo15a	G	A	11: 60,392,668 (GRCm39)	V1017M		Het
Nol4	T	C	18: 23,172,897 (GRCm39)	D68G	probably benign	Het
Or4f53	T	C	2: 111,088,348 (GRCm39)	V296A	probably benign	Het
Or6c75	T	C	10: 129,337,515 (GRCm39)	V254A	probably damaging	Het
Pigw	C	A	11: 84,768,040 (GRCm39)	A430S	probably benign	Het
Pla2g4c	T	C	7: 13,077,900 (GRCm39)	L356P	probably damaging	Het
Prorp	T	C	12: 55,385,015 (GRCm39)	V410A	probably damaging	Het
Prr5	A	G	15: 84,585,682 (GRCm39)	T226A	probably benign	Het
Pygo1	C	T	9: 72,833,056 (GRCm39)		probably benign	Het
Rnf214	A	G	9: 45,779,286 (GRCm39)	I333T	possibly damaging	Het
Septin3	A	G	15: 82,167,352 (GRCm39)	I86V	probably benign	Het
Socs5	C	A	17: 87,442,266 (GRCm39)	T402K	probably damaging	Het
Speer3	T	A	5: 13,846,368 (GRCm39)	N229K		Het
Stk16	T	C	1: 75,187,804 (GRCm39)		probably benign	Het
Taar7d	T	A	10: 23,903,287 (GRCm39)	F56L	probably benign	Het
Tmprss2	C	T	16: 97,392,669 (GRCm39)	V93I	probably benign	Het
Tnpo2	G	A	8: 85,774,015 (GRCm39)	E350K	probably benign	Het
Tor1aip2	C	T	1: 155,937,525 (GRCm39)	P87S	possibly damaging	Het
Trgv7	A	T	13: 19,362,385 (GRCm39)	R25*	probably null	Het
Ush2a	A	G	1: 188,558,589 (GRCm39)	E3606G	probably benign	Het
Zeb1	C	T	18: 5,766,709 (GRCm39)	Q407*	probably null	Het
Zfp609	A	G	9: 65,611,125 (GRCm39)	S613P		Het
Zfp735	A	G	11: 73,602,403 (GRCm39)	N449S	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ATTGGCACAGACAGCGATGC -3'
(R):5'- AGGCTATACATTTCCCCTTGCAG -3'

Sequencing Primer
(F):5'- ACCCGCCTCAATGTGATAGTC -3'
(R):5'- CAGGTGGGTATTTAGCACACAGC -3'

Posted On

2022-06-15