Mutagenetix > Incidental Mutation

Incidental Mutation 'R9765:Slc30a4'

733187

Institutional Source

Beutler Lab

Gene Symbol

Slc30a4

Ensembl Gene

ENSMUSG00000005802

Gene Name

solute carrier family 30 (zinc transporter), member 4

Synonyms

Znt4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9765 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122523153-122544583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122536456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 133 (Y133N)

Ref Sequence

ENSEMBL: ENSMUSP00000005952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005952] [ENSMUST00000099457]

AlphaFold

O35149

Predicted Effect

probably damaging
Transcript: ENSMUST00000005952
AA Change: Y133N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000005952
Gene: ENSMUSG00000005802
AA Change: Y133N

Domain	Start	End	E-Value	Type
low complexity region	67	83	N/A	INTRINSIC
Pfam:Cation_efflux	114	333	1.3e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099457

SMART Domains

Protein: ENSMUSP00000097056
Gene: ENSMUSG00000005802

Domain	Start	End	E-Value	Type
low complexity region	67	83	N/A	INTRINSIC
Pfam:Cation_efflux	124	368	4.6e-46	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant dams produce zinc-deficient milk that is lethal to all nursing pups. Pleiotropic defects observed in mutant males and females include otolith degeneration, impaired motor coordination, alopecia, and dermatitis. [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
4930505A04Rik	C	T	11: 30,404,829 (GRCm39)	V25I	probably benign	Het
Actr1b	T	A	1: 36,741,677 (GRCm39)	H65L	probably benign	Het
Adgrf5	G	A	17: 43,748,491 (GRCm39)	G440E	probably damaging	Het
Ash1l	T	A	3: 88,930,500 (GRCm39)	D1992E	probably damaging	Het
Cacng4	A	G	11: 107,632,809 (GRCm39)	F81S	probably damaging	Het
Cdca8	A	G	4: 124,814,122 (GRCm39)	I223T	probably benign	Het
Cdh19	A	G	1: 110,823,111 (GRCm39)		probably null	Het
Ces2f	A	G	8: 105,676,678 (GRCm39)	D124G	probably damaging	Het
Cks1brt	A	G	8: 85,898,234 (GRCm39)	Y29C	probably damaging	Het
Cntnap4	T	C	8: 113,484,110 (GRCm39)	S388P	probably benign	Het
Cntnap4	T	C	8: 113,568,496 (GRCm39)	I844T	probably damaging	Het
Col4a3	G	A	1: 82,646,678 (GRCm39)	W396*	probably null	Het
Cul9	A	T	17: 46,850,224 (GRCm39)	S449T	probably benign	Het
Cux2	G	A	5: 122,007,195 (GRCm39)	P822L	probably benign	Het
Cyp3a13	G	C	5: 137,909,883 (GRCm39)	P147A	probably damaging	Het
Dennd2a	C	T	6: 39,473,907 (GRCm39)		probably null	Het
Dgkg	T	C	16: 22,298,157 (GRCm39)	M743V	possibly damaging	Het
Dhx35	C	T	2: 158,671,501 (GRCm39)	R311W	probably benign	Het
Dnase1l2	A	T	17: 24,660,049 (GRCm39)	V273E	probably damaging	Het
Dock8	T	G	19: 25,146,832 (GRCm39)	I1437S	possibly damaging	Het
Dpy19l3	T	C	7: 35,408,056 (GRCm39)	D450G	probably benign	Het
Dsg4	G	A	18: 20,604,334 (GRCm39)	V934I	probably benign	Het
Eef2	T	A	10: 81,015,010 (GRCm39)	F236L	possibly damaging	Het
Eml4	A	G	17: 83,747,498 (GRCm39)	I247V	probably damaging	Het
Evi5	A	C	5: 107,947,120 (GRCm39)	C451G	probably benign	Het
Fam124a	T	G	14: 62,824,883 (GRCm39)	W126G	probably damaging	Het
Fbxw21	A	G	9: 108,975,625 (GRCm39)	I257T	possibly damaging	Het
Fn3krp	A	G	11: 121,312,304 (GRCm39)	K6E	probably benign	Het
Gcn1	G	A	5: 115,735,131 (GRCm39)	W1149*	probably null	Het
Glud1	C	T	14: 34,060,795 (GRCm39)	R453*	probably null	Het
Gtf2f1	G	A	17: 57,318,125 (GRCm39)		probably benign	Het
Gtpbp4	T	A	13: 9,024,994 (GRCm39)	D532V	probably benign	Het
Ifnar2	G	A	16: 91,184,975 (GRCm39)	R122H	possibly damaging	Het
Ift70b	A	T	2: 75,768,467 (GRCm39)	Y95*	probably null	Het
Ipo11	A	G	13: 107,061,556 (GRCm39)	W35R	probably damaging	Het
Iqgap3	G	A	3: 88,017,361 (GRCm39)	R1115Q	possibly damaging	Het
Kifc5b	A	G	17: 27,142,239 (GRCm39)	E239G	probably damaging	Het
Map3k7	A	T	4: 32,019,519 (GRCm39)	E553D	probably damaging	Het
Mdh1	G	T	11: 21,512,926 (GRCm39)	S146*	probably null	Het
Muc16	C	A	9: 18,548,494 (GRCm39)	W5933L	probably benign	Het
Myo16	C	A	8: 10,620,401 (GRCm39)	P1651T	probably damaging	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Noxo1	G	T	17: 24,915,386 (GRCm39)		probably benign	Het
Or4k49	T	A	2: 111,495,230 (GRCm39)	Y220N	probably benign	Het
Pcdhgb6	A	T	18: 37,876,054 (GRCm39)	N254I	possibly damaging	Het
Peli3	A	T	19: 4,991,850 (GRCm39)	C30*	probably null	Het
Plb1	T	A	5: 32,512,731 (GRCm39)	M1363K	probably damaging	Het
Ppp4r4	G	T	12: 103,550,346 (GRCm39)	E257*	probably null	Het
Rbm20	T	G	19: 53,840,060 (GRCm39)	S1016R	probably benign	Het
Rcn1	A	T	2: 105,225,026 (GRCm39)	L143Q	possibly damaging	Het
Retreg1	G	A	15: 25,940,985 (GRCm39)	G3D	unknown	Het
Rrm2	A	G	12: 24,758,956 (GRCm39)	N65D	probably benign	Het
Samhd1	G	T	2: 156,965,219 (GRCm39)	H199N	probably damaging	Het
Slain2	T	A	5: 73,114,969 (GRCm39)	L400*	probably null	Het
Slc26a7	A	T	4: 14,522,862 (GRCm39)	M486K	probably benign	Het
Spef2	A	T	15: 9,601,945 (GRCm39)	F1439Y	unknown	Het
Srpra	T	C	9: 35,122,670 (GRCm39)	V29A	possibly damaging	Het
St3gal1	T	C	15: 66,981,499 (GRCm39)	T226A	possibly damaging	Het
Tas2r136	T	A	6: 132,754,813 (GRCm39)	I105F	probably benign	Het
Tmem208	A	G	8: 106,061,506 (GRCm39)	*177W	probably null	Het
Utrn	T	A	10: 12,610,921 (GRCm39)	N478I	probably damaging	Het
Zbtb37	T	C	1: 160,859,432 (GRCm39)	Y291C	probably damaging	Het
Zc3h3	T	G	15: 75,709,459 (GRCm39)	H470P	probably benign	Het
Zfp40	A	T	17: 23,395,863 (GRCm39)	Y241*	probably null	Het
Zfp457	T	C	13: 67,440,874 (GRCm39)	N567S	probably benign	Het
Zfp458	C	T	13: 67,408,217 (GRCm39)	V33M	probably damaging	Het
Zfp953	A	T	13: 67,491,478 (GRCm39)	I158N	possibly damaging	Het

Other mutations in Slc30a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Slc30a4	APN	2	122,544,308 (GRCm39)	missense	possibly damaging	0.87
IGL01583:Slc30a4	APN	2	122,527,137 (GRCm39)	missense	probably benign
IGL01823:Slc30a4	APN	2	122,544,012 (GRCm39)	missense	probably damaging	1.00
IGL02086:Slc30a4	APN	2	122,543,947 (GRCm39)	splice site	probably benign
F5770:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
R0060:Slc30a4	UTSW	2	122,527,104 (GRCm39)	missense	probably benign
R0060:Slc30a4	UTSW	2	122,527,104 (GRCm39)	missense	probably benign
R0373:Slc30a4	UTSW	2	122,531,319 (GRCm39)	missense	probably damaging	0.99
R0591:Slc30a4	UTSW	2	122,527,160 (GRCm39)	missense	probably damaging	1.00
R1514:Slc30a4	UTSW	2	122,531,334 (GRCm39)	missense	probably damaging	1.00
R1552:Slc30a4	UTSW	2	122,527,936 (GRCm39)	missense	probably benign	0.05
R3847:Slc30a4	UTSW	2	122,544,192 (GRCm39)	missense	probably damaging	1.00
R4195:Slc30a4	UTSW	2	122,527,190 (GRCm39)	missense	probably damaging	1.00
R4501:Slc30a4	UTSW	2	122,527,136 (GRCm39)	missense	probably benign
R5558:Slc30a4	UTSW	2	122,528,903 (GRCm39)	missense	probably damaging	1.00
R6379:Slc30a4	UTSW	2	122,531,469 (GRCm39)	missense	probably damaging	1.00
R6393:Slc30a4	UTSW	2	122,527,966 (GRCm39)	missense	probably damaging	1.00
R7394:Slc30a4	UTSW	2	122,527,224 (GRCm39)	missense	possibly damaging	0.93
R9464:Slc30a4	UTSW	2	122,527,200 (GRCm39)	missense	probably damaging	1.00
V7580:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
V7581:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
V7582:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
V7583:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGGGTCATAGTTTATTATGGC -3'
(R):5'- CACAGGTGCTACATCTATGTTTC -3'

Sequencing Primer
(F):5'- TTGAGGACAGCCACAAAG -3'
(R):5'- GAGCATGCACAGATTTTGATACC -3'

Posted On

2022-11-14