Mutagenetix > Incidental Mutation

Incidental Mutation 'R4850:Slc30a7'

373449

Institutional Source

Beutler Lab

Gene Symbol

Slc30a7

Ensembl Gene

ENSMUSG00000054414

Gene Name

solute carrier family 30 (zinc transporter), member 7

Synonyms

2610034N15Rik, 4833428C12Rik, 1810059J10Rik, ZnT-7, ZnT7

MMRRC Submission

042462-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R4850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115938973-116007406 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115993008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 72 (F72L)

Ref Sequence

ENSEMBL: ENSMUSP00000065254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067485]

AlphaFold

Q9JKN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000067485
AA Change: F72L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414
AA Change: F72L

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	38	296	3.3e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197847

Meta Mutation Damage Score

0.2362

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a low body zinc status, reduced food intake and poor body weight gain, and are lean due to a significant reduction in body fat accumulation; however, no signs of hair growth abnormalities or dermatitis are observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,982,690 (GRCm38)	A42T	probably benign	Het
Acsf3	T	C	8: 122,817,436 (GRCm38)	V551A	probably damaging	Het
Adgrl2	G	A	3: 148,859,020 (GRCm38)	T304I	probably damaging	Het
Akr1d1	A	G	6: 37,554,587 (GRCm38)		probably null	Het
Ankrd17	A	T	5: 90,264,786 (GRCm38)	H1226Q	probably damaging	Het
Arap1	T	C	7: 101,398,791 (GRCm38)	I847T	probably damaging	Het
Atad2b	G	A	12: 4,943,251 (GRCm38)	G257S	probably benign	Het
Cand2	A	T	6: 115,801,948 (GRCm38)	T1158S	probably benign	Het
Cic	G	A	7: 25,272,902 (GRCm38)	R686H	probably damaging	Het
Cldn1	T	A	16: 26,363,163 (GRCm38)	T99S	probably benign	Het
Cnga3	G	T	1: 37,258,006 (GRCm38)	E173*	probably null	Het
Cplane1	T	C	15: 8,262,938 (GRCm38)	S3012P	unknown	Het
Cryge	G	T	1: 65,051,052 (GRCm38)		probably benign	Het
Dsp	T	A	13: 38,192,469 (GRCm38)	L1410H	probably damaging	Het
Dync2h1	T	C	9: 7,134,364 (GRCm38)	T1548A	probably benign	Het
Dysf	C	A	6: 84,097,715 (GRCm38)	D499E	probably damaging	Het
Eml5	T	C	12: 98,790,619 (GRCm38)	D1917G	probably damaging	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fn3krp	A	T	11: 121,425,053 (GRCm38)	H90L	possibly damaging	Het
Garin2	A	G	12: 78,715,153 (GRCm38)	D197G	probably damaging	Het
Gm10718	A	T	9: 3,023,716 (GRCm38)	T56S	probably benign	Het
Gm4847	A	T	1: 166,642,339 (GRCm38)	I55K	probably damaging	Het
Gsn	T	A	2: 35,283,900 (GRCm38)		probably null	Het
H2bc11	G	T	13: 22,043,251 (GRCm38)		probably benign	Het
Haghl	T	C	17: 25,783,006 (GRCm38)		probably benign	Het
Hmg20b	T	A	10: 81,346,927 (GRCm38)	E139V	probably damaging	Het
Hsd3b6	G	A	3: 98,807,905 (GRCm38)	T57I	probably benign	Het
Igkv5-48	A	G	6: 69,726,796 (GRCm38)	S42P	probably damaging	Het
Igsf23	T	C	7: 19,953,934 (GRCm38)		probably benign	Het
Kcnt1	T	C	2: 25,908,100 (GRCm38)	F874L	probably damaging	Het
Maf1	T	C	15: 76,352,962 (GRCm38)	F110L	possibly damaging	Het
Mtpap	C	T	18: 4,387,044 (GRCm38)	R365W	probably damaging	Het
Mtus1	A	C	8: 41,084,470 (GRCm38)	S70A	possibly damaging	Het
Nfatc1	T	A	18: 80,697,865 (GRCm38)	T307S	probably benign	Het
Nphs1	T	G	7: 30,463,232 (GRCm38)	S379A	possibly damaging	Het
Nup205	A	G	6: 35,230,530 (GRCm38)	T1506A	probably benign	Het
Or13f5	T	C	4: 52,825,450 (GRCm38)	S18P	possibly damaging	Het
Or8u9	T	A	2: 86,171,671 (GRCm38)	I49F	probably damaging	Het
Pcdhga8	A	T	18: 37,727,709 (GRCm38)	Y606F	probably damaging	Het
Pde7a	A	G	3: 19,243,117 (GRCm38)	V123A	probably benign	Het
Pex1	C	T	5: 3,624,426 (GRCm38)	T809I	probably benign	Het
Prdm13	C	A	4: 21,678,243 (GRCm38)	R749L	possibly damaging	Het
Prkcd	A	G	14: 30,599,743 (GRCm38)	L498P	probably damaging	Het
Pros1	A	T	16: 62,885,524 (GRCm38)	E67V	probably damaging	Het
Rab44	A	G	17: 29,140,089 (GRCm38)	E417G	possibly damaging	Het
Rangrf	A	G	11: 68,973,640 (GRCm38)		probably null	Het
Rp1	T	A	1: 4,348,675 (GRCm38)	K738M	probably damaging	Het
Ryr2	A	T	13: 11,668,820 (GRCm38)	D3119E	probably damaging	Het
Ryr2	G	A	13: 11,745,752 (GRCm38)	R1482C	probably damaging	Het
Sbspon	T	A	1: 15,858,968 (GRCm38)	T200S	probably damaging	Het
Sfxn5	T	C	6: 85,332,376 (GRCm38)		probably benign	Het
Slc26a8	T	A	17: 28,654,883 (GRCm38)	I377F	probably benign	Het
Slc32a1	T	C	2: 158,614,192 (GRCm38)	F256L	possibly damaging	Het
Slco6b1	T	C	1: 96,911,833 (GRCm38)		noncoding transcript	Het
Smpd1	A	G	7: 105,555,985 (GRCm38)	H357R	probably benign	Het
Sncaip	A	T	18: 52,871,384 (GRCm38)	H361L	probably damaging	Het
Tenm2	A	C	11: 36,023,488 (GRCm38)	Y2406*	probably null	Het
Terb1	T	A	8: 104,485,425 (GRCm38)	H308L	probably benign	Het
Trim61	A	T	8: 65,013,418 (GRCm38)	L397H	probably damaging	Het
Trp53bp1	T	A	2: 121,205,113 (GRCm38)		probably null	Het
Ttn	T	G	2: 76,781,555 (GRCm38)	E9007D	possibly damaging	Het
Urb1	A	T	16: 90,795,414 (GRCm38)	C319*	probably null	Het
Vmn2r95	T	C	17: 18,451,653 (GRCm38)	Y551H	probably damaging	Het
Vwde	A	T	6: 13,196,048 (GRCm38)	V326D	possibly damaging	Het
Xdh	A	G	17: 73,898,335 (GRCm38)	L1045P	probably damaging	Het
Zfp638	T	C	6: 83,979,475 (GRCm38)	I1688T	possibly damaging	Het
Zwint	T	A	10: 72,655,956 (GRCm38)		probably benign	Het

Other mutations in Slc30a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Slc30a7	APN	3	115,946,720 (GRCm38)	splice site	probably null
IGL01161:Slc30a7	APN	3	115,954,110 (GRCm38)	missense	possibly damaging	0.54
IGL01360:Slc30a7	APN	3	115,990,116 (GRCm38)	missense	probably damaging	1.00
IGL02573:Slc30a7	APN	3	115,990,147 (GRCm38)	splice site	probably benign
R0833:Slc30a7	UTSW	3	115,990,140 (GRCm38)	critical splice acceptor site	probably null
R0836:Slc30a7	UTSW	3	115,990,140 (GRCm38)	critical splice acceptor site	probably null
R1381:Slc30a7	UTSW	3	115,956,870 (GRCm38)	critical splice donor site	probably null
R2445:Slc30a7	UTSW	3	115,978,653 (GRCm38)	missense	probably damaging	1.00
R4072:Slc30a7	UTSW	3	115,946,680 (GRCm38)	missense	probably damaging	0.96
R5429:Slc30a7	UTSW	3	116,006,925 (GRCm38)	missense	possibly damaging	0.90
R5586:Slc30a7	UTSW	3	115,990,051 (GRCm38)	missense	probably benign	0.36
R6170:Slc30a7	UTSW	3	115,990,743 (GRCm38)	missense	probably damaging	1.00
R6813:Slc30a7	UTSW	3	115,981,811 (GRCm38)	missense	probably benign	0.01
R6889:Slc30a7	UTSW	3	115,954,153 (GRCm38)	missense	probably damaging	1.00
R8445:Slc30a7	UTSW	3	116,007,346 (GRCm38)	unclassified	probably benign
R8872:Slc30a7	UTSW	3	115,946,668 (GRCm38)	missense	possibly damaging	0.69
X0023:Slc30a7	UTSW	3	115,990,025 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGGAAGTTAACAGGTCACCC -3'
(R):5'- GGGCTTTCGTTAGCAGGATC -3'

Sequencing Primer
(F):5'- AGTCTCAGGAGCTCAGACC -3'
(R):5'- CTTTCGTTAGCAGGATCTTTCTG -3'

Posted On

2016-03-01