Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Slc39a14'

381672

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

042554-MU

Accession Numbers

Essential gene?

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

Stock #

R4957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70540918-70588874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70553260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 158 (S158R)

Ref Sequence

ENSEMBL: ENSMUSP00000117010 (fasta)

Gene Model

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

AlphaFold

Q75N73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022688
AA Change: S158R

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022688
Gene: ENSMUSG00000022094
AA Change: S158R

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

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 benign
Transcript: ENSMUST00000139284

SMART Domains

Protein: ENSMUSP00000122615
Gene: ENSMUSG00000022094

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 damaging
Transcript: ENSMUST00000152442
AA Change: S158R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117010
Gene: ENSMUSG00000022094
AA Change: S158R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152202

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152067
AA Change: S158R

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119040
Gene: ENSMUSG00000022094
AA Change: S158R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155825

Predicted Effect

probably benign
Transcript: ENSMUST00000151011

SMART Domains

Protein: ENSMUSP00000118319
Gene: ENSMUSG00000022094

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

Meta Mutation Damage Score

0.4361

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
6820408C15Rik	T	A	2: 152,286,013 (GRCm39)	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,231,786 (GRCm39)	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,448,303 (GRCm39)	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,404,027 (GRCm39)		probably benign	Het
Cd74	A	G	18: 60,942,109 (GRCm39)	N113D	probably benign	Het
Cdc25b	T	C	2: 131,035,525 (GRCm39)	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,759,315 (GRCm39)	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,760,547 (GRCm39)	I310T	probably damaging	Het
Creb5	A	T	6: 53,670,907 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,935,231 (GRCm39)	Q460R	probably benign	Het
Dnah17	A	T	11: 117,965,124 (GRCm39)	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,289,120 (GRCm39)	H215L	probably damaging	Het
Enkd1	A	G	8: 106,431,121 (GRCm39)	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892 (GRCm39)	A407V	probably damaging	Het
Ercc3	G	T	18: 32,376,170 (GRCm39)	G130W	probably damaging	Het
Fbxl8	A	G	8: 105,994,827 (GRCm39)	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099 (GRCm39)	N339K	probably damaging	Het
Frrs1	G	A	3: 116,678,897 (GRCm39)	D240N	probably benign	Het
Gemin2	A	G	12: 59,063,954 (GRCm39)	S105G	probably benign	Het
Glra1	T	A	11: 55,418,224 (GRCm39)	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,687,503 (GRCm39)	P354S	probably damaging	Het
Gpr15	G	T	16: 58,538,537 (GRCm39)	A184E	probably damaging	Het
Grm7	G	A	6: 111,335,824 (GRCm39)	G745E	probably damaging	Het
H2-T10	T	A	17: 36,428,308 (GRCm39)		probably benign	Het
Hdac5	C	A	11: 102,096,082 (GRCm39)		probably benign	Het
Ift22	G	A	5: 136,937,070 (GRCm39)		probably benign	Het
Ighg3	T	C	12: 113,324,750 (GRCm39)	E34G	unknown	Het
Itga11	A	T	9: 62,674,930 (GRCm39)	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,871 (GRCm39)	V282A	possibly damaging	Het
Maml2	A	G	9: 13,531,572 (GRCm39)	K262R	probably damaging	Het
Mme	T	A	3: 63,250,910 (GRCm39)		probably benign	Het
Mnat1	A	G	12: 73,170,652 (GRCm39)	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,281 (GRCm39)	T34S	possibly damaging	Het
Ncaph	T	C	2: 126,963,177 (GRCm39)	D352G	possibly damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4f17-ps1	C	A	2: 111,358,569 (GRCm39)	N321K	probably benign	Het
Or5m9b	T	A	2: 85,905,854 (GRCm39)	Y257N	probably damaging	Het
Or9g8	T	C	2: 85,607,459 (GRCm39)	F177S	probably damaging	Het
Pcdhb13	T	A	18: 37,577,837 (GRCm39)	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,130,980 (GRCm39)	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,763,577 (GRCm39)	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,281 (GRCm39)	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,583,469 (GRCm39)	T772I	probably benign	Het
Ryr2	T	C	13: 11,799,966 (GRCm39)	Q927R	probably damaging	Het
Scarf1	A	G	11: 75,416,460 (GRCm39)	E634G	probably benign	Het
Scart1	T	C	7: 139,808,435 (GRCm39)	V782A	probably damaging	Het
Skic3	T	G	13: 76,333,232 (GRCm39)		probably null	Het
Slc9c1	A	T	16: 45,365,194 (GRCm39)	T176S	probably benign	Het
Srsf10	T	C	4: 135,583,541 (GRCm39)	S2P	probably damaging	Het
Tcam1	T	A	11: 106,173,705 (GRCm39)	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,919,864 (GRCm39)		probably null	Het
Tdrd3	T	A	14: 87,743,223 (GRCm39)	H390Q	probably benign	Het
Tlk2	T	C	11: 105,144,185 (GRCm39)		probably null	Het
Tnc	G	C	4: 63,894,793 (GRCm39)	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 144,973,327 (GRCm39)	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 144,973,328 (GRCm39)	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,889,266 (GRCm39)	E264V	probably damaging	Het
Ugt3a1	G	A	15: 9,365,274 (GRCm39)	V296I	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,947,129 (GRCm39)	E541A	probably benign	Het
Ybx1	A	T	4: 119,136,135 (GRCm39)		probably benign	Het
Zfp39	T	A	11: 58,782,057 (GRCm39)	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,603,904 (GRCm39)	K32*	probably null	Het
Zpbp2	T	A	11: 98,442,150 (GRCm39)		probably null	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
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
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'- TCAGCCCAGGAAAAGTGAAC -3'
(R):5'- ACCATGTTGCGTCTCCAGTC -3'

Sequencing Primer
(F):5'- AACGCGCGCCTGTTCTAC -3'
(R):5'- TCCTCTAAAGGGTAAGCTGCTCAG -3'

Posted On

2016-04-27