Incidental Mutation 'R6741:Slc39a4'
| ID |
530465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a4
|
| Ensembl Gene |
ENSMUSG00000063354 |
| Gene Name |
solute carrier family 39 (zinc transporter), member 4 |
| Synonyms |
AWMS2, 1600025H15Rik, zip4 |
| MMRRC Submission |
044858-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6741 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76496583-76501579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76498283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 385
(D385N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073428]
[ENSMUST00000230977]
|
| AlphaFold |
Q78IQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073428
AA Change: D385N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073134
Gene: ENSMUSG00000063354
AA Change: D385N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
253 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
335 |
652 |
3.5e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230317
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230977
AA Change: D385N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5181 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic letahlity around E10. Mice heterozygous for a null allele exhibit developmental defects similar to the teratology of zinc deficiency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt3 |
A |
C |
3: 30,652,663 (GRCm39) |
F144V |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,883,503 (GRCm39) |
I1342T |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,629,350 (GRCm39) |
|
probably null |
Het |
| Defb12 |
T |
C |
8: 19,164,757 (GRCm39) |
E27G |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,144,304 (GRCm39) |
Y534H |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,000,289 (GRCm39) |
H537L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,824,761 (GRCm39) |
S2359T |
unknown |
Het |
| Epha5 |
T |
C |
5: 84,254,557 (GRCm39) |
I572V |
possibly damaging |
Het |
| Grb10 |
C |
A |
11: 11,886,717 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
T |
C |
19: 36,589,759 (GRCm39) |
I628T |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,722,293 (GRCm39) |
Q246L |
possibly damaging |
Het |
| Knop1 |
C |
T |
7: 118,445,061 (GRCm39) |
R301Q |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,136,001 (GRCm39) |
I1770M |
possibly damaging |
Het |
| Mgst1 |
A |
C |
6: 138,127,836 (GRCm39) |
D66A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,037,718 (GRCm39) |
D237G |
possibly damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,995,182 (GRCm39) |
Q122L |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,362,458 (GRCm39) |
P1389Q |
probably benign |
Het |
| Or5ac25 |
A |
G |
16: 59,181,918 (GRCm39) |
L221P |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,306,249 (GRCm39) |
I607N |
probably damaging |
Het |
| Plekho2 |
C |
A |
9: 65,471,197 (GRCm39) |
R84L |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,614,434 (GRCm39) |
M1329L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,631,771 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,565 (GRCm39) |
S1230P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,211,624 (GRCm39) |
I648T |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,786,803 (GRCm39) |
L1256R |
possibly damaging |
Het |
| Sesn3 |
T |
C |
9: 14,231,636 (GRCm39) |
I189T |
possibly damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Tnfsf13b |
T |
C |
8: 10,057,314 (GRCm39) |
F128S |
possibly damaging |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,195 (GRCm39) |
V269A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,724 (GRCm39) |
E83D |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,560 (GRCm39) |
N247D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,808,878 (GRCm39) |
S390P |
possibly damaging |
Het |
|
| Other mutations in Slc39a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02558:Slc39a4
|
APN |
15 |
76,498,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02597:Slc39a4
|
APN |
15 |
76,497,824 (GRCm39) |
missense |
probably benign |
|
|
IGL02798:Slc39a4
|
APN |
15 |
76,499,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
texline
|
UTSW |
15 |
76,498,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0519:Slc39a4
|
UTSW |
15 |
76,499,338 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0815:Slc39a4
|
UTSW |
15 |
76,496,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Slc39a4
|
UTSW |
15 |
76,500,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1547:Slc39a4
|
UTSW |
15 |
76,498,347 (GRCm39) |
nonsense |
probably null |
|
|
R2919:Slc39a4
|
UTSW |
15 |
76,500,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4634:Slc39a4
|
UTSW |
15 |
76,498,693 (GRCm39) |
missense |
probably benign |
|
|
R5029:Slc39a4
|
UTSW |
15 |
76,498,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Slc39a4
|
UTSW |
15 |
76,498,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5669:Slc39a4
|
UTSW |
15 |
76,498,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6020:Slc39a4
|
UTSW |
15 |
76,500,342 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6920:Slc39a4
|
UTSW |
15 |
76,497,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7072:Slc39a4
|
UTSW |
15 |
76,497,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Slc39a4
|
UTSW |
15 |
76,498,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Slc39a4
|
UTSW |
15 |
76,498,126 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9300:Slc39a4
|
UTSW |
15 |
76,498,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Slc39a4
|
UTSW |
15 |
76,497,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9720:Slc39a4
|
UTSW |
15 |
76,500,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9722:Slc39a4
|
UTSW |
15 |
76,500,211 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
RF035:Slc39a4
|
UTSW |
15 |
76,499,066 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Slc39a4
|
UTSW |
15 |
76,499,071 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Slc39a4
|
UTSW |
15 |
76,499,070 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Slc39a4
|
UTSW |
15 |
76,499,066 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Slc39a4
|
UTSW |
15 |
76,499,066 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Slc39a4
|
UTSW |
15 |
76,499,071 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Slc39a4
|
UTSW |
15 |
76,499,070 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Slc39a4
|
UTSW |
15 |
76,499,070 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Slc39a4
|
UTSW |
15 |
76,498,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGAAGCCTCCAAGTACAGC -3'
(R):5'- TCAGTGTAGACTCACCCACAG -3'
Sequencing Primer
(F):5'- CCTCCTCATGGGTGTGACC -3'
(R):5'- CACAGGGTATCTCTATGGCTCG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation