Mutagenetix > Incidental Mutation

Incidental Mutation 'R1812:Slc39a7'

202516

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

039840-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34247243-34250656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34247789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 471 (L471P)

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: L471P

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

SMART Domains

Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327
AA Change: L471P

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: L471P

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

SMART Domains

Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327
AA Change: L471P

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: ENSMUST00000172739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174029

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: ENSMUST00000174740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174399

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: 97.3%
3x: 96.3%
10x: 93.2%
20x: 85.7%

Validation Efficiency

100% (1/1)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,164,740 (GRCm39)	Q545*	probably null	Het
Aadacl2	T	C	3: 59,932,498 (GRCm39)	C338R	probably damaging	Het
Abcb4	G	A	5: 8,978,578 (GRCm39)		probably null	Het
Adam17	T	C	12: 21,411,768 (GRCm39)	D41G	probably damaging	Het
Angptl7	T	A	4: 148,582,540 (GRCm39)	I119F	probably damaging	Het
Arid1b	T	A	17: 5,387,304 (GRCm39)	S1586T	probably benign	Het
Arid4b	C	T	13: 14,370,014 (GRCm39)	A1170V	probably damaging	Het
Atad5	A	G	11: 80,023,873 (GRCm39)	T1659A	probably damaging	Het
Bub1b	T	G	2: 118,462,902 (GRCm39)	D754E	probably benign	Het
Cdkn1a	T	C	17: 29,317,539 (GRCm39)	V53A	probably benign	Het
Chsy1	T	G	7: 65,821,565 (GRCm39)	V600G	probably benign	Het
Cntrl	G	A	2: 35,039,481 (GRCm39)	V561M	probably damaging	Het
Col6a5	A	G	9: 105,805,253 (GRCm39)	C1218R	unknown	Het
Crhr1	T	C	11: 104,059,973 (GRCm39)	L140P	probably damaging	Het
Cyb5b	CAGAG	CAG	8: 107,897,020 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,039,621 (GRCm39)	Q298L	probably damaging	Het
Dctn1	A	G	6: 83,169,500 (GRCm39)	E638G	possibly damaging	Het
Ddx41	A	G	13: 55,683,767 (GRCm39)	I88T	probably benign	Het
Dennd11	A	G	6: 40,386,365 (GRCm39)	I288T	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Dip2b	C	A	15: 100,096,819 (GRCm39)		probably null	Het
Dscaml1	G	A	9: 45,662,584 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,629,334 (GRCm39)	A4246V	possibly damaging	Het
Epb41l1	T	C	2: 156,338,431 (GRCm39)	I158T	probably damaging	Het
Fat1	A	G	8: 45,489,840 (GRCm39)	Y3584C	probably damaging	Het
Fxyd5	T	A	7: 30,737,355 (GRCm39)		probably null	Het
Gapvd1	T	A	2: 34,615,076 (GRCm39)	K336*	probably null	Het
Gm9637	G	A	14: 19,402,395 (GRCm38)		noncoding transcript	Het
Gpr65	C	T	12: 98,242,001 (GRCm39)	T218M	probably damaging	Het
Gsdma3	T	C	11: 98,523,219 (GRCm39)	V203A	probably damaging	Het
Helb	T	A	10: 119,925,471 (GRCm39)	K969*	probably null	Het
Hipk2	G	A	6: 38,675,098 (GRCm39)	A1188V	probably benign	Het
Itpk1	T	A	12: 102,540,317 (GRCm39)	E255D	probably benign	Het
Kif21a	T	C	15: 90,855,969 (GRCm39)	D596G	possibly damaging	Het
Kif5a	A	T	10: 127,077,879 (GRCm39)	I405N	probably benign	Het
Klk1b11	T	A	7: 43,427,179 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,269,642 (GRCm39)	L622M	probably benign	Het
Macf1	T	A	4: 123,325,817 (GRCm39)	I5227F	probably damaging	Het
Mapk10	A	C	5: 103,061,128 (GRCm39)	S470A	probably damaging	Het
Morc2a	C	T	11: 3,635,831 (GRCm39)	T897I	probably damaging	Het
Nmbr	A	G	10: 14,636,283 (GRCm39)		probably null	Het
Nosip	T	A	7: 44,725,998 (GRCm39)	M214K	probably damaging	Het
Or13c7d	G	T	4: 43,770,230 (GRCm39)	Y260*	probably null	Het
Or52m2	A	T	7: 102,263,577 (GRCm39)	N206K	possibly damaging	Het
Or52r1	T	C	7: 102,537,285 (GRCm39)	Y25C	probably benign	Het
Or5w13	A	G	2: 87,523,447 (GRCm39)	F260L	probably benign	Het
Pik3c2a	A	T	7: 116,016,899 (GRCm39)	V286E	probably damaging	Het
Ppfia4	T	A	1: 134,252,311 (GRCm39)	I388F	probably benign	Het
Ppm1f	A	G	16: 16,735,651 (GRCm39)	H289R	probably damaging	Het
Ptprz1	T	A	6: 22,959,711 (GRCm39)	D69E	probably benign	Het
Rad54b	A	T	4: 11,612,770 (GRCm39)	T801S	probably damaging	Het
Ramp1	A	T	1: 91,124,579 (GRCm39)	N47Y	probably damaging	Het
Rnf32	T	A	5: 29,411,258 (GRCm39)	H181Q	possibly damaging	Het
Rpa2	T	C	4: 132,495,996 (GRCm39)	F6L	probably benign	Het
Ryr2	C	A	13: 11,575,472 (GRCm39)	R4842L	probably damaging	Het
Scn11a	G	T	9: 119,609,931 (GRCm39)	C972*	probably null	Het
Setd2	C	T	9: 110,379,170 (GRCm39)	T995I	probably damaging	Het
Slc6a21	C	G	7: 44,932,371 (GRCm39)	S350R	probably damaging	Het
Slx4ip	A	G	2: 136,910,115 (GRCm39)	N300S	probably benign	Het
Spef2	G	A	15: 9,679,435 (GRCm39)	P634L	probably damaging	Het
Stk32b	G	A	5: 37,624,102 (GRCm39)	A215V	probably damaging	Het
Svil	A	T	18: 5,097,545 (GRCm39)	Y1676F	probably damaging	Het
Tanc1	G	A	2: 59,622,023 (GRCm39)	V381M	probably damaging	Het
Tanc2	T	C	11: 105,777,212 (GRCm39)	F797L	probably benign	Het
Tas2r120	T	G	6: 132,634,564 (GRCm39)	C215W	probably benign	Het
Tenm4	G	A	7: 96,545,147 (GRCm39)	D2388N	probably damaging	Het
Thsd4	C	T	9: 59,964,220 (GRCm39)	S64N	probably damaging	Het
Thsd7b	C	T	1: 129,686,347 (GRCm39)	R630C	probably damaging	Het
Top3a	A	G	11: 60,650,188 (GRCm39)	I145T	probably damaging	Het
Vmn2r78	A	G	7: 86,569,995 (GRCm39)	D171G	probably benign	Het
Vmn2r82	A	G	10: 79,215,046 (GRCm39)	E343G	probably benign	Het
Wdr70	T	C	15: 8,108,663 (GRCm39)	D161G	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
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
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'- TTTTCCAAAAGCAACAACGCTG -3'
(R):5'- CAATTGGAGCATTGGCAGGC -3'

Sequencing Primer
(F):5'- CAACAACGCTGCTGGGC -3'
(R):5'- TGTGCCCTTCTCACCGAGG -3'

Posted On

2014-06-23