Mutagenetix > Incidental Mutation

Incidental Mutation 'R0313:Slc39a7'

25353

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

038523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0313 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34247243-34250656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34248518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 375 (A375V)

Ref Sequence

ENSEMBL: ENSMUSP00000130102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025183] [ENSMUST00000025186] [ENSMUST00000044858] [ENSMUST00000045467] [ENSMUST00000114303] [ENSMUST00000116612] [ENSMUST00000169397] [ENSMUST00000171872] [ENSMUST00000173354] [ENSMUST00000173554]

AlphaFold

Q31125

Predicted Effect

probably benign
Transcript: ENSMUST00000025183

SMART Domains

Protein: ENSMUSP00000025183
Gene: ENSMUSG00000024325

Domain	Start	End	E-Value	Type
RING	48	87	7.92e-8	SMART
low complexity region	171	229	N/A	INTRINSIC
low complexity region	236	261	N/A	INTRINSIC
Pfam:RAWUL	272	400	4.8e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000025186
AA Change: A375V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327
AA Change: A375V

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

noncoding transcript
Transcript: ENSMUST00000083621

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

probably damaging
Transcript: ENSMUST00000169397
AA Change: A375V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327
AA Change: A375V

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: ENSMUST00000173894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170491

Predicted Effect

probably benign
Transcript: ENSMUST00000171872

SMART Domains

Protein: ENSMUSP00000133146
Gene: ENSMUSG00000024327

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

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

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

noncoding transcript
Transcript: ENSMUST00000199860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174130

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

Meta Mutation Damage Score

0.6529

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.9%
20x: 88.5%

Validation Efficiency

98% (40/41)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	A	G	6: 58,649,082 (GRCm39)	E309G	probably benign	Het
Ankmy1	C	T	1: 92,813,943 (GRCm39)	G412D	probably damaging	Het
Cc2d1a	G	A	8: 84,863,598 (GRCm39)	T542I	probably benign	Het
Cldn18	T	C	9: 99,580,967 (GRCm39)	I94V	probably benign	Het
Cobll1	G	A	2: 64,926,088 (GRCm39)	R1195*	probably null	Het
Dnah7b	A	G	1: 46,246,803 (GRCm39)	T1660A	probably damaging	Het
Dzip3	G	T	16: 48,757,424 (GRCm39)	Q870K	probably damaging	Het
Ebf4	T	C	2: 130,148,707 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,811,892 (GRCm39)	I1411T	probably benign	Het
Esyt2	T	C	12: 116,311,428 (GRCm39)	L439P	probably damaging	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Haspin	A	G	11: 73,027,124 (GRCm39)	V655A	probably damaging	Het
Kmt2c	T	C	5: 25,549,928 (GRCm39)	E1351G	probably damaging	Het
Lama2	C	A	10: 26,869,394 (GRCm39)		probably null	Het
Lcp1	A	G	14: 75,436,873 (GRCm39)	E73G	probably damaging	Het
Ltv1	C	T	10: 13,058,604 (GRCm39)		probably null	Het
Mcmdc2	A	G	1: 10,002,366 (GRCm39)	Y529C	probably damaging	Het
Myo3b	T	A	2: 70,179,303 (GRCm39)	Y1172*	probably null	Het
Ncf1	T	C	5: 134,258,421 (GRCm39)	M1V	probably null	Het
Or4k47	C	T	2: 111,451,945 (GRCm39)	S158N	possibly damaging	Het
Or6c8b	A	G	10: 128,882,695 (GRCm39)	V79A	possibly damaging	Het
Or8c10	T	C	9: 38,279,600 (GRCm39)	S243P	probably damaging	Het
Pcif1	A	T	2: 164,726,339 (GRCm39)	H80L	probably damaging	Het
Pclo	T	C	5: 14,728,887 (GRCm39)		probably benign	Het
Polr2a	T	C	11: 69,625,906 (GRCm39)	Y1710C	unknown	Het
Ppp1r37	G	A	7: 19,267,923 (GRCm39)	T324I	probably damaging	Het
Prmt1	T	C	7: 44,628,172 (GRCm39)	D176G	probably benign	Het
Scn5a	T	C	9: 119,363,637 (GRCm39)	D501G	probably damaging	Het
Ska2	A	G	11: 87,008,640 (GRCm39)	I89M	possibly damaging	Het
Ssrp1	T	A	2: 84,871,898 (GRCm39)	I374N	probably damaging	Het
Stox2	C	T	8: 47,645,169 (GRCm39)	G828R	probably damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Uqcrc1	C	A	9: 108,777,642 (GRCm39)	R114S	possibly damaging	Het
Usp38	A	T	8: 81,711,071 (GRCm39)	L988*	probably null	Het
Vmn2r5	T	A	3: 64,411,248 (GRCm39)	H440L	probably benign	Het
Wdr12	A	T	1: 60,121,738 (GRCm39)	I271N	possibly damaging	Het
Xylt2	C	T	11: 94,560,720 (GRCm39)		probably benign	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
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
R5065:Slc39a7	UTSW	17	34,250,033 (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'- TCAATGACTCTGCCTCAGGACCAC -3'
(R):5'- ATGTGAACCGGCTTGATGGACACC -3'

Sequencing Primer
(F):5'- GGAGTACTAGAACAGACATCTCCTG -3'
(R):5'- GCTTGATGGACACCCTCAATC -3'

Posted On

2013-04-16