Mutagenetix > Incidental Mutation

Incidental Mutation 'R2437:Slc39a14'

249683

Institutional Source

Beutler Lab

Gene Symbol

Slc39a14

Ensembl Gene

ENSMUSG00000022094

Gene Name

solute carrier family 39 (zinc transporter), member 14

Synonyms

Zip14, G630015O18Rik

MMRRC Submission

040398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70540918-70588874 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 70553885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022688] [ENSMUST00000068044] [ENSMUST00000127000] [ENSMUST00000139284] [ENSMUST00000143153] [ENSMUST00000152067] [ENSMUST00000151011] [ENSMUST00000152442]

AlphaFold

Q75N73

Predicted Effect

probably null
Transcript: ENSMUST00000022688

SMART Domains

Protein: ENSMUSP00000022688
Gene: ENSMUSG00000022094

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Zip	149	480	4.4e-72	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000068044

SMART Domains

Protein: ENSMUSP00000066108
Gene: ENSMUSG00000022094

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Zip	149	480	5.4e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127000

SMART Domains

Protein: ENSMUSP00000117792
Gene: ENSMUSG00000022094

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000139284

SMART Domains

Protein: ENSMUSP00000122615
Gene: ENSMUSG00000022094

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000143153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146453

Predicted Effect

probably null
Transcript: ENSMUST00000152067

SMART Domains

Protein: ENSMUSP00000119040
Gene: ENSMUSG00000022094

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Zip	149	480	3.3e-69	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000151011

SMART Domains

Protein: ENSMUSP00000118319
Gene: ENSMUSG00000022094

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000152442

SMART Domains

Protein: ENSMUSP00000117010
Gene: ENSMUSG00000022094

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152202

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A14 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a null allele show dwarfism, scoliosis, osteopenia, short long bones, altered gluconeogenesis and chondrocyte differentiation, low plasma IGF-I and liver zinc levels. Homozygotes for another null allele show reduced liver zinc levels and hepatocyte proliferation after hepatectomy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,031,075 (GRCm39)	*635W	probably null	Het
Anxa2	A	G	9: 69,397,046 (GRCm39)	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,340,002 (GRCm39)	S675P	probably damaging	Het
Bltp1	T	A	3: 37,012,834 (GRCm39)		probably null	Het
Camk2d	A	G	3: 126,628,277 (GRCm39)	N53S	probably damaging	Het
Carns1	A	T	19: 4,215,782 (GRCm39)	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,996,767 (GRCm39)		probably null	Het
Chrne	T	A	11: 70,506,086 (GRCm39)	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035 (GRCm39)	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,758 (GRCm39)	C63*	probably null	Het
Col12a1	G	A	9: 79,599,501 (GRCm39)	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,537 (GRCm39)		probably null	Het
Dnajc2	A	T	5: 21,965,389 (GRCm39)	S537R	probably benign	Het
Dnajc25	T	C	4: 59,020,234 (GRCm39)	I100T	probably damaging	Het
Ephx1	C	A	1: 180,823,661 (GRCm39)	G149C	probably damaging	Het
Fam163b	G	T	2: 27,002,698 (GRCm39)	P100T	probably damaging	Het
Fbxl9	A	G	8: 106,039,675 (GRCm39)		probably null	Het
Fgd5	A	T	6: 92,039,850 (GRCm39)	R1017*	probably null	Het
Fibin	A	T	2: 110,192,848 (GRCm39)	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,505,481 (GRCm39)	L929H	probably damaging	Het
Frem1	T	A	4: 82,918,410 (GRCm39)	S512C	probably damaging	Het
Gm4922	T	A	10: 18,659,829 (GRCm39)	M298L	probably benign	Het
Gstm2	G	A	3: 107,891,369 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,317,042 (GRCm39)		probably null	Het
Ibtk	A	C	9: 85,590,178 (GRCm39)	L1026V	probably benign	Het
Il9	T	A	13: 56,629,684 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,432,037 (GRCm39)	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,264,435 (GRCm39)		probably benign	Het
Mgat4c	T	C	10: 102,224,436 (GRCm39)	S217P	probably damaging	Het
Mr1	T	C	1: 155,008,277 (GRCm39)	M233V	probably benign	Het
Ncoa2	G	A	1: 13,218,584 (GRCm39)	T1415I	probably damaging	Het
Oasl2	G	A	5: 115,049,357 (GRCm39)	D486N	probably benign	Het
Or1j14	A	T	2: 36,418,258 (GRCm39)	Y278F	probably damaging	Het
Or9a7	G	A	6: 40,521,856 (GRCm39)	T19I	probably benign	Het
Or9s27	T	C	1: 92,516,688 (GRCm39)	I212T	possibly damaging	Het
Pcnx4	T	C	12: 72,588,587 (GRCm39)	F132L	probably damaging	Het
Pde5a	T	A	3: 122,636,702 (GRCm39)	L717Q	probably damaging	Het
Peli2	A	T	14: 48,465,389 (GRCm39)		probably benign	Het
Phf14	A	G	6: 11,962,657 (GRCm39)	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,913,564 (GRCm39)	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,893,907 (GRCm39)		probably null	Het
Plekho1	T	G	3: 95,899,497 (GRCm39)	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,742,395 (GRCm39)	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,322 (GRCm39)	E864G	probably benign	Het
Prkab2	T	A	3: 97,574,715 (GRCm39)	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptger3	T	A	3: 157,273,207 (GRCm39)	C185S	probably damaging	Het
Ptprk	T	C	10: 28,230,709 (GRCm39)	Y267H	probably damaging	Het
Pum2	A	G	12: 8,794,654 (GRCm39)	I715V	probably benign	Het
R3hdm1	T	C	1: 128,114,573 (GRCm39)	V518A	probably damaging	Het
Rab3d	T	C	9: 21,827,147 (GRCm39)	I28V	probably damaging	Het
Rad54b	T	C	4: 11,606,272 (GRCm39)	L560P	probably damaging	Het
Rgs20	A	G	1: 5,140,370 (GRCm39)		probably null	Het
Sesn1	T	A	10: 41,781,315 (GRCm39)	L460H	probably damaging	Het
Slco6c1	T	A	1: 96,990,201 (GRCm39)	H663L	probably benign	Het
Snx13	T	A	12: 35,132,926 (GRCm39)	C63S	probably benign	Het
Spmip4	T	A	6: 50,560,959 (GRCm39)	D212V	probably damaging	Het
Strip2	T	C	6: 29,941,940 (GRCm39)		probably null	Het
Syncrip	A	G	9: 88,361,620 (GRCm39)		probably benign	Het
Taf15	A	G	11: 83,395,579 (GRCm39)		probably benign	Het
Tbc1d8	T	C	1: 39,444,368 (GRCm39)		probably null	Het
Tgm4	T	A	9: 122,877,614 (GRCm39)	C205*	probably null	Het
Tmem212	A	T	3: 27,940,628 (GRCm39)	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,790,054 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,636,298 (GRCm39)	V525L	probably benign	Het
Ttn	A	G	2: 76,537,171 (GRCm39)	L34919P	probably damaging	Het
Ttn	T	C	2: 76,694,619 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,194,069 (GRCm39)	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,200,853 (GRCm39)	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,003,445 (GRCm39)	V448G	probably damaging	Het
Usp3	A	G	9: 66,453,024 (GRCm39)		probably null	Het
Zfp341	T	A	2: 154,470,721 (GRCm39)	V246E	probably damaging	Het

Other mutations in Slc39a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Slc39a14	APN	14	70,544,134 (GRCm39)	missense	possibly damaging	0.91
IGL02348:Slc39a14	APN	14	70,553,885 (GRCm39)	critical splice donor site	probably null
IGL03108:Slc39a14	APN	14	70,556,368 (GRCm39)	missense	probably damaging	0.98
IGL03391:Slc39a14	APN	14	70,547,291 (GRCm39)	missense	probably damaging	1.00
R1741:Slc39a14	UTSW	14	70,556,193 (GRCm39)	missense	probably damaging	1.00
R4726:Slc39a14	UTSW	14	70,551,048 (GRCm39)	critical splice donor site	probably null
R4808:Slc39a14	UTSW	14	70,553,250 (GRCm39)	missense	probably damaging	1.00
R4911:Slc39a14	UTSW	14	70,547,371 (GRCm39)	missense	probably benign	0.00
R4957:Slc39a14	UTSW	14	70,553,260 (GRCm39)	missense	probably damaging	0.99
R5815:Slc39a14	UTSW	14	70,544,194 (GRCm39)	missense	probably damaging	1.00
R6393:Slc39a14	UTSW	14	70,547,262 (GRCm39)	missense	probably benign	0.02
R6464:Slc39a14	UTSW	14	70,544,177 (GRCm39)	missense	probably damaging	0.98
R6466:Slc39a14	UTSW	14	70,547,335 (GRCm39)	missense	probably damaging	1.00
R6757:Slc39a14	UTSW	14	70,548,333 (GRCm39)	missense	probably damaging	1.00
R6969:Slc39a14	UTSW	14	70,546,275 (GRCm39)	missense	probably damaging	0.99
R7569:Slc39a14	UTSW	14	70,547,276 (GRCm39)	missense	possibly damaging	0.66
R7711:Slc39a14	UTSW	14	70,551,124 (GRCm39)	missense	probably damaging	1.00
R7830:Slc39a14	UTSW	14	70,547,566 (GRCm39)	missense	probably benign	0.00
R8075:Slc39a14	UTSW	14	70,546,247 (GRCm39)	missense	possibly damaging	0.87
R9171:Slc39a14	UTSW	14	70,547,687 (GRCm39)	missense	probably benign	0.01
R9371:Slc39a14	UTSW	14	70,547,569 (GRCm39)	missense	probably benign
R9576:Slc39a14	UTSW	14	70,556,235 (GRCm39)	missense	probably benign
R9653:Slc39a14	UTSW	14	70,547,248 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGACTTACTCAGACAGGGTG -3'
(R):5'- AGCTCTGGAGACCTCTTTGC -3'

Sequencing Primer
(F):5'- GGTCATAAAGATTGGCACTCTTACAG -3'
(R):5'- TTTGCGGCGCACAACTTGAG -3'

Posted On

2014-11-12