Mutagenetix > Incidental Mutation

Incidental Mutation 'R1741:Slc39a14'

200376

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

039773-MU

Accession Numbers

Essential gene?

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

Stock #

R1741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70540918-70588874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70556193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 61 (K61R)

Ref Sequence

ENSEMBL: ENSMUSP00000118319 (fasta)

Gene Model

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

AlphaFold

Q75N73

Predicted Effect

probably benign
Transcript: ENSMUST00000022688
AA Change: K61R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022688
Gene: ENSMUSG00000022094
AA Change: K61R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068044
AA Change: K61R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066108
Gene: ENSMUSG00000022094
AA Change: K61R

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
AA Change: K61R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117792
Gene: ENSMUSG00000022094
AA Change: K61R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000139284
AA Change: K61R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122615
Gene: ENSMUSG00000022094
AA Change: K61R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146453

Predicted Effect

probably benign
Transcript: ENSMUST00000152067
AA Change: K61R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119040
Gene: ENSMUSG00000022094
AA Change: K61R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152442
AA Change: K61R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117010
Gene: ENSMUSG00000022094
AA Change: K61R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151011
AA Change: K61R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118319
Gene: ENSMUSG00000022094
AA Change: K61R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152202

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,793,578 (GRCm39)	N37S	probably damaging	Het
Acad10	T	C	5: 121,785,899 (GRCm39)	K230R	probably damaging	Het
Actl7a	A	G	4: 56,744,252 (GRCm39)	N260D	probably benign	Het
Adam24	T	C	8: 41,132,642 (GRCm39)	Y37H	probably benign	Het
Ahcy	G	A	2: 154,906,154 (GRCm39)	A229V	probably benign	Het
Ap3b2	A	G	7: 81,117,347 (GRCm39)	V563A	possibly damaging	Het
Bcl9l	T	A	9: 44,420,986 (GRCm39)	M1427K	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Btg4	A	T	9: 51,027,910 (GRCm39)	I27L	probably benign	Het
Ccdc171	A	G	4: 83,539,076 (GRCm39)	Y366C	probably damaging	Het
Chd3	A	G	11: 69,246,480 (GRCm39)	Y1085H	probably damaging	Het
Cnot10	T	C	9: 114,426,892 (GRCm39)	D616G	possibly damaging	Het
Crlf1	C	A	8: 70,953,556 (GRCm39)	D243E	probably damaging	Het
Cyp2b23	A	G	7: 26,372,502 (GRCm39)	V371A	possibly damaging	Het
Dennd2a	A	G	6: 39,470,091 (GRCm39)	S534P	probably damaging	Het
Eln	A	G	5: 134,758,038 (GRCm39)	V185A	unknown	Het
Epor	C	T	9: 21,871,067 (GRCm39)	G301D	probably damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fbxl21	A	T	13: 56,684,915 (GRCm39)	T340S	probably benign	Het
Fcgbpl1	G	T	7: 27,857,279 (GRCm39)	C2209F	probably damaging	Het
Fez1	T	A	9: 36,755,029 (GRCm39)	D9E	probably damaging	Het
Fsip2	T	C	2: 82,820,256 (GRCm39)	F5330L	probably benign	Het
Glis1	G	A	4: 107,425,544 (GRCm39)	R197Q	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gpr158	A	G	2: 21,832,359 (GRCm39)	N1153S	probably benign	Het
Gramd4	T	C	15: 85,975,730 (GRCm39)		probably null	Het
Hhatl	T	A	9: 121,618,125 (GRCm39)	Y210F	possibly damaging	Het
Hltf	T	C	3: 20,140,352 (GRCm39)	W422R	probably damaging	Het
Hspa5	T	C	2: 34,662,704 (GRCm39)	S87P	possibly damaging	Het
Il21	T	C	3: 37,281,811 (GRCm39)	H111R	probably benign	Het
Ip6k1	G	A	9: 107,918,183 (GRCm39)	G73S	probably benign	Het
Kdm5b	A	G	1: 134,545,755 (GRCm39)	D972G	possibly damaging	Het
Kif21b	C	T	1: 136,083,880 (GRCm39)	A709V	probably damaging	Het
Kmt2d	T	C	15: 98,743,115 (GRCm39)		probably benign	Het
Lrrc14b	A	G	13: 74,511,705 (GRCm39)	L125P	probably damaging	Het
Mapk8ip3	A	G	17: 25,118,828 (GRCm39)	S1169P	probably damaging	Het
Me3	A	T	7: 89,501,041 (GRCm39)	Y584F	probably damaging	Het
Mxra7	T	G	11: 116,707,070 (GRCm39)		probably null	Het
Nf1	T	C	11: 79,334,757 (GRCm39)	S870P	probably benign	Het
Npr2	G	A	4: 43,643,350 (GRCm39)	G525S	probably damaging	Het
Nyap1	A	T	5: 137,731,387 (GRCm39)	S726T	probably damaging	Het
Padi4	A	G	4: 140,473,481 (GRCm39)	V652A	probably damaging	Het
Pclo	A	G	5: 14,726,524 (GRCm39)		probably benign	Het
Pgm1	G	A	4: 99,822,062 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,154,244 (GRCm39)	S2512P	probably damaging	Het
Ptbp3	A	T	4: 59,482,624 (GRCm39)	D386E	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpn3	A	G	4: 57,254,922 (GRCm39)	V154A	probably damaging	Het
Rassf4	T	C	6: 116,616,450 (GRCm39)	E287G	probably damaging	Het
Rnh1	C	T	7: 140,743,936 (GRCm39)	R174H	probably benign	Het
Scn9a	T	A	2: 66,317,938 (GRCm39)	I1517F	probably damaging	Het
Sftpb	C	A	6: 72,282,797 (GRCm39)	A90E	probably benign	Het
Tmem132d	A	C	5: 127,861,922 (GRCm39)	M733R	probably benign	Het
Tmem248	A	G	5: 130,265,664 (GRCm39)	I156V	probably benign	Het
Traf2	T	C	2: 25,414,495 (GRCm39)	D339G	probably damaging	Het
Trappc11	A	G	8: 47,982,362 (GRCm39)		probably null	Het
Tuba8	T	A	6: 121,199,727 (GRCm39)	I137N	possibly damaging	Het
Txlnb	A	G	10: 17,714,695 (GRCm39)	T376A	probably damaging	Het
Usp34	A	G	11: 23,314,103 (GRCm39)	T663A	probably benign	Het
Vmn2r26	T	A	6: 124,038,431 (GRCm39)	F669I	probably damaging	Het
Wdr95	G	A	5: 149,518,861 (GRCm39)		probably null	Het
Wfdc8	T	G	2: 164,450,789 (GRCm39)		probably benign	Het
Zfp64	A	C	2: 168,768,238 (GRCm39)	V458G	probably benign	Het
Zfp868	C	T	8: 70,064,519 (GRCm39)	G272D	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
R2437:Slc39a14	UTSW	14	70,553,885 (GRCm39)	critical splice donor site	probably null
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'- GCCTCCCTGAGGATGAAGAATATGC -3'
(R):5'- AGATAGAGACCTTGCCTTCACCTGG -3'

Sequencing Primer
(F):5'- TATGCTGACCCCAGTGAAGATG -3'
(R):5'- TGGTCACCATGAAGCGG -3'

Posted On

2014-05-23