Mutagenetix > Incidental Mutation

Incidental Mutation 'R7711:Slc39a14'

594640

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

045769-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70540918-70588874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70551124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 183 (R183W)

Ref Sequence

ENSEMBL: ENSMUSP00000066108 (fasta)

Gene Model

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

AlphaFold

Q75N73

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000068044
AA Change: R183W

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

SMART Domains

Protein: ENSMUSP00000066108
Gene: ENSMUSG00000022094
AA Change: R183W

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: ENSMUST00000143153

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

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000152442

SMART Domains

Protein: ENSMUSP00000117010
Gene: ENSMUSG00000022094

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,886,723 (GRCm39)	E342K	possibly damaging	Het
9430015G10Rik	T	G	4: 156,203,649 (GRCm39)	V34G	probably damaging	Het
Alkbh3	T	C	2: 93,838,437 (GRCm39)	S44G	probably benign	Het
Alpk2	A	T	18: 65,439,555 (GRCm39)	C613S	probably benign	Het
Aplp2	G	A	9: 31,072,645 (GRCm39)	R488C	probably damaging	Het
Arid1b	A	G	17: 5,387,095 (GRCm39)	N1463S	probably benign	Het
Atxn2l	A	T	7: 126,100,441 (GRCm39)	L125Q	probably damaging	Het
Cd3d	A	G	9: 44,897,634 (GRCm39)	K172E	probably benign	Het
Chd7	T	A	4: 8,805,234 (GRCm39)	D764E	probably benign	Het
Col19a1	T	C	1: 24,569,089 (GRCm39)	I220V	unknown	Het
Cpq	T	C	15: 33,497,493 (GRCm39)	I411T	probably benign	Het
Crybg2	C	A	4: 133,792,844 (GRCm39)	H160N	probably benign	Het
Cryl1	A	T	14: 57,513,013 (GRCm39)	C285S	probably benign	Het
Dapk1	A	G	13: 60,909,365 (GRCm39)	D1326G	probably damaging	Het
Dgkh	A	G	14: 78,962,459 (GRCm39)	V24A	probably benign	Het
Dnajb4	A	C	3: 151,892,154 (GRCm39)	S226R	probably benign	Het
Dnm3	A	T	1: 161,819,622 (GRCm39)	I850N	possibly damaging	Het
Dtna	G	T	18: 23,758,253 (GRCm39)		probably null	Het
Efcab6	G	T	15: 83,834,125 (GRCm39)	D494E	probably benign	Het
Fam169a	G	T	13: 97,263,196 (GRCm39)	E550*	probably null	Het
Fbxw7	A	G	3: 84,832,988 (GRCm39)	N10S	probably benign	Het
Flrt2	T	C	12: 95,747,528 (GRCm39)	F622S	probably damaging	Het
Gprc5d	G	A	6: 135,093,355 (GRCm39)	T184I	possibly damaging	Het
Grem2	A	G	1: 174,664,693 (GRCm39)	V52A	probably damaging	Het
Gtf3c2	G	T	5: 31,327,533 (GRCm39)	T310N	probably damaging	Het
H2-T13	T	A	17: 36,394,770 (GRCm39)	N51I	probably damaging	Het
Hyou1	A	G	9: 44,295,759 (GRCm39)	D338G	possibly damaging	Het
Ifna6	T	C	4: 88,745,971 (GRCm39)	S107P	probably benign	Het
Kif14	G	T	1: 136,399,191 (GRCm39)	G451C	probably benign	Het
Kit	T	A	5: 75,798,019 (GRCm39)	F436I	probably damaging	Het
Lonp2	G	A	8: 87,440,636 (GRCm39)	C751Y	probably damaging	Het
Lonrf1	C	A	8: 36,716,375 (GRCm39)	G87C	probably damaging	Het
Lrp2	T	C	2: 69,309,687 (GRCm39)		probably null	Het
Lrrc37	G	T	11: 103,505,738 (GRCm39)	Q2077K	probably benign	Het
Mkln1	A	G	6: 31,469,584 (GRCm39)	H598R	probably damaging	Het
Mmaa	T	C	8: 79,994,774 (GRCm39)	H344R	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myh7b	T	G	2: 155,462,323 (GRCm39)	L342R	probably damaging	Het
Or12e8	A	G	2: 87,187,871 (GRCm39)	N28D	probably benign	Het
Or2h2b-ps1	C	T	17: 37,480,847 (GRCm39)	G129R	probably damaging	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Or7e178	A	T	9: 20,225,319 (GRCm39)	V299E	possibly damaging	Het
Pcsk5	T	A	19: 17,416,444 (GRCm39)	Y1668F	possibly damaging	Het
Pfn4	C	T	12: 4,824,414 (GRCm39)	T47I	possibly damaging	Het
Pklr	T	C	3: 89,048,649 (GRCm39)	L104P	probably damaging	Het
Plcxd2	A	G	16: 45,800,693 (GRCm39)	V177A	probably benign	Het
Pramel16	T	C	4: 143,675,822 (GRCm39)	S335G	probably benign	Het
Prdm10	G	T	9: 31,268,528 (GRCm39)	A826S	probably damaging	Het
Prrt4	A	G	6: 29,177,455 (GRCm39)	S105P	probably benign	Het
Prss51	T	A	14: 64,334,937 (GRCm39)	V164E	probably damaging	Het
Psap	T	C	10: 60,135,634 (GRCm39)	V360A	probably damaging	Het
Psg22	T	C	7: 18,452,267 (GRCm39)		probably null	Het
Qrfprl	A	G	6: 65,418,357 (GRCm39)	H23R		Het
Rad51	A	G	2: 118,962,071 (GRCm39)	Q206R	probably benign	Het
Rap1gds1	T	C	3: 138,664,874 (GRCm39)	K277R	probably benign	Het
Rassf2	T	A	2: 131,847,297 (GRCm39)	T103S	probably benign	Het
Rbm15b	T	A	9: 106,763,142 (GRCm39)	H342L	possibly damaging	Het
Rsf1	G	GACCGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Scaf8	T	C	17: 3,237,909 (GRCm39)	F561L	probably damaging	Het
Scn1a	G	A	2: 66,134,004 (GRCm39)	A130V	probably benign	Het
Scn7a	T	C	2: 66,531,221 (GRCm39)	E552G	probably damaging	Het
Slfn1	A	T	11: 83,012,089 (GRCm39)	K68N	possibly damaging	Het
Slx4ip	A	G	2: 136,909,914 (GRCm39)	D303G	probably damaging	Het
Snx17	T	A	5: 31,352,804 (GRCm39)	F101Y	probably damaging	Het
Spata31e3	T	G	13: 50,401,131 (GRCm39)	R398S	probably benign	Het
Specc1l	C	A	10: 75,066,642 (GRCm39)	N30K	probably benign	Het
Spmip2	A	G	3: 79,313,167 (GRCm39)	I80M	probably damaging	Het
Tbx19	A	G	1: 164,966,768 (GRCm39)	S369P	probably benign	Het
Usp17ld	T	C	7: 102,899,489 (GRCm39)	H481R	probably damaging	Het
Wnt2	A	G	6: 17,990,036 (GRCm39)	L287P	probably benign	Het
Zfhx4	G	T	3: 5,462,016 (GRCm39)	M1230I	probably damaging	Het
Zfp1	T	C	8: 112,396,794 (GRCm39)	C272R	not run	Het
Zfp458	A	G	13: 67,407,664 (GRCm39)	S64P	possibly 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
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
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'- GCCAGTCCCTGTAACTTCCATG -3'
(R):5'- GAAGGAAATTGCATCAGACCC -3'

Sequencing Primer
(F):5'- CCCTGTAACTTCCATGTACATAGAGG -3'
(R):5'- GGAAATTGCATCAGACCCAAATC -3'

Posted On

2019-11-12