Mutagenetix > Incidental Mutation

Incidental Mutation 'R5065:Slc39a7'

388309

Institutional Source

Beutler Lab

Gene Symbol

Slc39a7

Ensembl Gene

ENSMUSG00000024327

Gene Name

solute carrier family 39 (zinc transporter), member 7

Synonyms

KE4, Ke-4, H-2Ke4, Ring5, H2-Ke4, Zip7

MMRRC Submission

042655-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5065 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34247243-34250656 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 34250033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025186] [ENSMUST00000044858] [ENSMUST00000045467] [ENSMUST00000114303] [ENSMUST00000116612] [ENSMUST00000171872] [ENSMUST00000169397] [ENSMUST00000173554] [ENSMUST00000173354]

AlphaFold

Q31125

Predicted Effect

unknown
Transcript: ENSMUST00000025186
AA Change: F67S

SMART Domains

Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327
AA Change: F67S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	2.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044858

SMART Domains

Protein: ENSMUSP00000036585
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	66	85	N/A	INTRINSIC
low complexity region	94	121	N/A	INTRINSIC
low complexity region	124	147	N/A	INTRINSIC
low complexity region	179	186	N/A	INTRINSIC
ZnF_C4	189	260	3.98e-39	SMART
low complexity region	269	282	N/A	INTRINSIC
low complexity region	305	316	N/A	INTRINSIC
HOLI	328	491	1.91e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000045467

SMART Domains

Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422

Domain	Start	End	E-Value	Type
Pfam:KR	10	201	1.5e-16	PFAM
Pfam:adh_short	10	213	4.5e-52	PFAM
Pfam:adh_short_C2	16	258	8.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114303

SMART Domains

Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422

Domain	Start	End	E-Value	Type
Pfam:KR	10	202	5.5e-16	PFAM
Pfam:adh_short	22	193	2.7e-30	PFAM
Pfam:adh_short_C2	23	234	1.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116612

SMART Domains

Protein: ENSMUSP00000112311
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	377	1.35e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168978

Predicted Effect

unknown
Transcript: ENSMUST00000171872
AA Change: F67S

SMART Domains

Protein: ENSMUSP00000133146
Gene: ENSMUSG00000024327
AA Change: F67S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	246	4.7e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170491

Predicted Effect

unknown
Transcript: ENSMUST00000169397
AA Change: F67S

SMART Domains

Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327
AA Change: F67S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	1.9e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

Predicted Effect

probably benign
Transcript: ENSMUST00000174299

SMART Domains

Protein: ENSMUSP00000133775
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	25	52	N/A	INTRINSIC
low complexity region	55	78	N/A	INTRINSIC
low complexity region	110	117	N/A	INTRINSIC
ZnF_C4	120	191	3.98e-39	SMART
low complexity region	200	213	N/A	INTRINSIC
low complexity region	236	247	N/A	INTRINSIC
HOLI	259	418	1.35e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173554

SMART Domains

Protein: ENSMUSP00000134299
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.9e-11	PFAM
ZnF_C4	79	150	3.98e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173354

SMART Domains

Protein: ENSMUSP00000133661
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	381	1.91e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174740

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (36/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a conditional allele activated in intestinal epithelial cells exhibit premature death, loss of epithelial integrity, reduced enterocyte proliferation and increased enterocyte apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,779,893 (GRCm39)	N120Y	probably damaging	Het
A930011G23Rik	G	A	5: 99,382,432 (GRCm39)	T272M	probably benign	Het
Aldh9a1	A	G	1: 167,180,128 (GRCm39)	E74G	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Bcl2l10	A	T	9: 75,255,261 (GRCm39)	E26V	possibly damaging	Het
Cspg4b	T	A	13: 113,457,453 (GRCm39)	H1166Q	probably benign	Het
Dennd2a	C	A	6: 39,472,110 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,832,883 (GRCm39)	F129L	probably damaging	Het
Gm4847	A	T	1: 166,462,359 (GRCm39)	I377N	probably damaging	Het
Gm8674	T	C	13: 50,056,613 (GRCm39)		noncoding transcript	Het
Hhipl2	A	T	1: 183,207,580 (GRCm39)	H433L	probably benign	Het
Hsfy2	G	A	1: 56,675,626 (GRCm39)	Q304*	probably null	Het
Ighg2c	T	C	12: 113,251,708 (GRCm39)	I140V	unknown	Het
Kmt2a	T	C	9: 44,753,997 (GRCm39)		probably benign	Het
Map3k5	A	G	10: 19,958,213 (GRCm39)	E671G	probably damaging	Het
Map6	A	G	7: 98,985,917 (GRCm39)	D607G	probably benign	Het
Mroh4	C	T	15: 74,500,119 (GRCm39)		probably null	Het
Or10g6	A	G	9: 39,934,546 (GRCm39)	I286V	probably benign	Het
Pcsk6	A	G	7: 65,560,047 (GRCm39)	D124G	possibly damaging	Het
Pkhd1l1	T	A	15: 44,445,689 (GRCm39)	N3790K	possibly damaging	Het
Polr3b	C	A	10: 84,468,402 (GRCm39)	N129K	probably benign	Het
Ptpn23	A	T	9: 110,227,256 (GRCm39)	L31Q	possibly damaging	Het
Sema3c	A	G	5: 17,932,615 (GRCm39)	N706S	possibly damaging	Het
Sipa1l2	T	C	8: 126,218,324 (GRCm39)	I338V	probably benign	Het
Snd1	C	A	6: 28,888,239 (GRCm39)	N891K	probably damaging	Het
Sntg1	A	G	1: 8,433,663 (GRCm39)		probably benign	Het
Stxbp5	A	T	10: 9,646,295 (GRCm39)	L780Q	probably damaging	Het
Tacr1	G	A	6: 82,531,859 (GRCm39)	V252M	possibly damaging	Het
Tdrp	T	C	8: 14,003,791 (GRCm39)	E182G	probably damaging	Het
Vmn1r58	A	G	7: 5,413,834 (GRCm39)	I132T	probably benign	Het
Wap	A	T	11: 6,586,840 (GRCm39)	N86K	probably damaging	Het

Other mutations in Slc39a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02004:Slc39a7	APN	17	34,250,095 (GRCm39)	unclassified	probably benign
R0313:Slc39a7	UTSW	17	34,248,518 (GRCm39)	missense	probably damaging	1.00
R0326:Slc39a7	UTSW	17	34,247,924 (GRCm39)	missense	probably damaging	1.00
R0496:Slc39a7	UTSW	17	34,248,512 (GRCm39)	missense	probably damaging	1.00
R1812:Slc39a7	UTSW	17	34,247,789 (GRCm39)	missense	probably damaging	1.00
R2276:Slc39a7	UTSW	17	34,250,241 (GRCm39)	unclassified	probably benign
R5753:Slc39a7	UTSW	17	34,249,150 (GRCm39)	missense	probably damaging	1.00
R6720:Slc39a7	UTSW	17	34,249,082 (GRCm39)	missense	probably benign	0.01
R7664:Slc39a7	UTSW	17	34,248,551 (GRCm39)	missense	probably damaging	1.00
R8302:Slc39a7	UTSW	17	34,249,686 (GRCm39)	missense	probably damaging	1.00
R8372:Slc39a7	UTSW	17	34,249,639 (GRCm39)	missense	probably damaging	1.00
R8929:Slc39a7	UTSW	17	34,249,964 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATGGCTATGTTCACGATGGG -3'
(R):5'- AAGTCGAGTCGTCTCTTGTTC -3'

Sequencing Primer
(F):5'- TCACGATGGGCATGTCCATGTC -3'
(R):5'- TCAGCGTGATGACCATGG -3'

Posted On

2016-06-06