Mutagenetix > Incidental Mutation

Incidental Mutation 'R0326:Slc39a7'

25923

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

038536-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34247243-34250656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34247924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 426 (V426D)

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: V426D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327
AA Change: V426D

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: V426D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327
AA Change: V426D

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: ENSMUST00000167145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173894

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: ENSMUST00000174130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174851

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.8%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,670,635 (GRCm39)	P286S	possibly damaging	Het
Aagab	T	A	9: 63,526,444 (GRCm39)	S156T	probably damaging	Het
Abca14	T	G	7: 119,823,642 (GRCm39)	Y390D	probably damaging	Het
Abcc2	T	A	19: 43,814,386 (GRCm39)	I1122N	possibly damaging	Het
Adamts16	T	C	13: 70,927,730 (GRCm39)	E503G	possibly damaging	Het
Adamts9	A	T	6: 92,835,038 (GRCm39)	C697*	probably null	Het
Adgrv1	T	C	13: 81,623,112 (GRCm39)	D3837G	possibly damaging	Het
Ahcyl	T	A	16: 45,974,246 (GRCm39)	D377V	probably benign	Het
Aire	T	A	10: 77,878,433 (GRCm39)	R128S	probably damaging	Het
Alkbh2	A	C	5: 114,262,011 (GRCm39)	*240E	probably null	Het
Als2	T	C	1: 59,219,742 (GRCm39)	Y1191C	probably damaging	Het
Anapc5	A	T	5: 122,952,667 (GRCm39)	V186E	probably benign	Het
Apob	C	T	12: 8,040,307 (GRCm39)	A548V	probably damaging	Het
B3galt4	A	T	17: 34,169,722 (GRCm39)	V172E	probably damaging	Het
Bbs7	A	C	3: 36,646,525 (GRCm39)	C432G	possibly damaging	Het
Cacna2d3	T	A	14: 28,767,601 (GRCm39)	E758V	probably damaging	Het
Cactin	T	G	10: 81,158,496 (GRCm39)	L154R	probably benign	Het
Ccdc88a	A	C	11: 29,411,021 (GRCm39)	R502S	probably benign	Het
Ccnf	A	T	17: 24,450,784 (GRCm39)	I398N	possibly damaging	Het
Chd1	A	T	17: 15,988,828 (GRCm39)	D1527V	probably damaging	Het
Chd1	A	T	17: 15,988,830 (GRCm39)	M1528L	probably benign	Het
Chrac1	G	A	15: 72,964,675 (GRCm39)		probably null	Het
Cln3	T	G	7: 126,182,217 (GRCm39)	M1L	probably damaging	Het
Cnot6	T	C	11: 49,568,263 (GRCm39)	Y442C	probably damaging	Het
Col19a1	A	T	1: 24,324,132 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,537,838 (GRCm39)	F1116L	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cops4	T	G	5: 100,676,408 (GRCm39)	V53G	probably damaging	Het
Crnkl1	A	G	2: 145,761,875 (GRCm39)	S561P	probably benign	Het
Ctnnb1	C	A	9: 120,780,778 (GRCm39)	Q99K	probably benign	Het
Cxcr5	T	C	9: 44,424,578 (GRCm39)	S360G	probably benign	Het
Dab2	G	A	15: 6,447,797 (GRCm39)	V60M	probably damaging	Het
Ddx3y	A	T	Y: 1,263,321 (GRCm39)	Y648*	probably null	Het
Dennd2a	T	A	6: 39,474,044 (GRCm39)	D430V	probably damaging	Het
Dsp	G	T	13: 38,376,846 (GRCm39)	E1544*	probably null	Het
Efcab7	A	T	4: 99,719,631 (GRCm39)	M38L	possibly damaging	Het
Fto	A	G	8: 92,136,155 (GRCm39)	N141S	probably damaging	Het
Gabrp	A	G	11: 33,504,362 (GRCm39)	F318L	probably damaging	Het
Gmeb1	A	C	4: 131,969,663 (GRCm39)	C103W	probably damaging	Het
Heatr9	T	C	11: 83,405,365 (GRCm39)	D365G	probably damaging	Het
Hif3a	G	A	7: 16,778,325 (GRCm39)	R436W	probably benign	Het
Hint2	A	G	4: 43,654,378 (GRCm39)	V145A	probably damaging	Het
Hmcn2	T	A	2: 31,313,237 (GRCm39)	L3482*	probably null	Het
Hsd3b1	A	T	3: 98,760,590 (GRCm39)	Y134N	probably damaging	Het
Impg2	T	A	16: 56,080,848 (GRCm39)	V775E	probably damaging	Het
Ipo5	A	G	14: 121,159,635 (GRCm39)	I154M	probably benign	Het
Itgad	T	A	7: 127,797,550 (GRCm39)	F893Y	probably benign	Het
Itprid1	A	T	6: 55,875,228 (GRCm39)	M393L	possibly damaging	Het
Kdm4a	T	C	4: 118,018,903 (GRCm39)	R438G	probably benign	Het
Klk1b11	T	A	7: 43,425,943 (GRCm39)	M1K	probably null	Het
Lama5	A	T	2: 179,824,219 (GRCm39)	V2602D	possibly damaging	Het
Lrch3	T	C	16: 32,799,870 (GRCm39)	S35P	probably damaging	Het
Mfn2	A	G	4: 147,967,745 (GRCm39)	L441P	probably damaging	Het
Mgat4c	A	T	10: 102,224,565 (GRCm39)	I260F	probably damaging	Het
Mon1b	T	A	8: 114,364,375 (GRCm39)	S51T	probably benign	Het
Myh11	T	C	16: 14,036,744 (GRCm39)	D993G	probably benign	Het
Myo1a	A	G	10: 127,552,166 (GRCm39)	N762D	probably benign	Het
Nacc2	A	T	2: 25,950,345 (GRCm39)	Y464N	probably damaging	Het
Nckap1	A	G	2: 80,383,714 (GRCm39)	I150T	probably benign	Het
Ndufv2	G	T	17: 66,387,816 (GRCm39)	P119T	probably damaging	Het
Noc4l	G	A	5: 110,800,241 (GRCm39)	R95*	probably null	Het
Ntng1	A	T	3: 110,042,819 (GRCm39)	Y2*	probably null	Het
Oog4	T	C	4: 143,165,773 (GRCm39)	N53D	probably benign	Het
Or10ak11	A	T	4: 118,687,022 (GRCm39)	V205D	possibly damaging	Het
Or4d11	C	T	19: 12,013,525 (GRCm39)	V194I	probably benign	Het
Or6c6c	A	G	10: 129,541,638 (GRCm39)	E297G	possibly damaging	Het
Or9i1b	C	T	19: 13,896,873 (GRCm39)	T163I	probably benign	Het
Phkg2	T	G	7: 127,173,075 (GRCm39)	L11R	probably damaging	Het
Pogz	A	G	3: 94,777,424 (GRCm39)	D368G	probably damaging	Het
Prex2	T	A	1: 11,355,289 (GRCm39)	L1530Q	probably damaging	Het
Prmt1	C	T	7: 44,628,878 (GRCm39)	E144K	probably damaging	Het
Prss8	T	A	7: 127,526,348 (GRCm39)	I121F	probably benign	Het
Psmd13	T	C	7: 140,477,624 (GRCm39)	L314P	probably damaging	Het
Ptch2	G	A	4: 116,966,081 (GRCm39)	G467D	probably damaging	Het
Rbm20	C	A	19: 53,852,596 (GRCm39)	P1192Q	probably damaging	Het
Rpl19	T	A	11: 97,919,200 (GRCm39)	D45E	probably benign	Het
Rsph10b	C	T	5: 143,903,946 (GRCm39)	A219V	probably damaging	Het
Rtraf	C	T	14: 19,864,600 (GRCm39)		probably null	Het
Scaf1	T	A	7: 44,658,175 (GRCm39)	T235S	probably damaging	Het
Shank1	T	A	7: 43,968,594 (GRCm39)	C296S	unknown	Het
Slc41a2	A	T	10: 83,119,610 (GRCm39)	V384D	probably damaging	Het
Slco1c1	T	C	6: 141,505,499 (GRCm39)	L475P	probably benign	Het
Slco6d1	A	C	1: 98,418,359 (GRCm39)	K515T	probably benign	Het
Sos2	T	C	12: 69,682,459 (GRCm39)	E253G	probably damaging	Het
Sp6	G	T	11: 96,912,361 (GRCm39)	D25Y	possibly damaging	Het
Syt11	A	C	3: 88,669,855 (GRCm39)	D12E	possibly damaging	Het
Taf2	A	G	15: 54,910,856 (GRCm39)	L606P	probably damaging	Het
Tbc1d5	A	G	17: 51,273,764 (GRCm39)	Y116H	probably damaging	Het
Tnfrsf8	A	G	4: 145,015,029 (GRCm39)	I243T	possibly damaging	Het
Tnxb	A	G	17: 34,917,153 (GRCm39)	S2183G	probably benign	Het
Trim66	T	C	7: 109,059,379 (GRCm39)	Y853C	probably benign	Het
Ttn	T	A	2: 76,567,839 (GRCm39)	T27685S	probably damaging	Het
Ttn	T	C	2: 76,573,466 (GRCm39)	E25809G	probably damaging	Het
Uvssa	G	A	5: 33,566,191 (GRCm39)	G445S	probably benign	Het
Zfp326	T	C	5: 106,058,141 (GRCm39)	S427P	probably damaging	Het
Zfp592	A	G	7: 80,674,637 (GRCm39)	T534A	possibly damaging	Het
Zfp672	A	G	11: 58,207,173 (GRCm39)	S383P	possibly damaging	Het
Zfp799	A	G	17: 33,039,700 (GRCm39)	S188P	possibly damaging	Het
Zyg11b	A	C	4: 108,129,450 (GRCm39)	V54G	possibly 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
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'- CTGACACTCCTTCTGGCATTAGCAC -3'
(R):5'- AGGCGACAGCTATCTGACTGCTTC -3'

Sequencing Primer
(F):5'- GGACTACCAACTGCCTTTATTAGGAG -3'
(R):5'- gtccttctccccagaccc -3'

Posted On

2013-04-16