Incidental Mutation 'RF043:Slc39a4'
| ID |
604936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a4
|
| Ensembl Gene |
ENSMUSG00000063354 |
| Gene Name |
solute carrier family 39 (zinc transporter), member 4 |
| Synonyms |
AWMS2, 1600025H15Rik, zip4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF043 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76496583-76501579 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (12 aa in frame mutation) |
| DNA Base Change (assembly) |
GTC to GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC
at 76499070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073428]
[ENSMUST00000230977]
|
| AlphaFold |
Q78IQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073428
|
| SMART Domains |
Protein: ENSMUSP00000073134
Gene: ENSMUSG00000063354
| 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 |
probably benign
Transcript: ENSMUST00000230977
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGTGGCGG |
18: 36,693,970 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
CAAA |
CAAAAAA |
11: 58,814,752 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,464 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
AGACACACTGCCCAGGGA |
AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA |
9: 86,922,484 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGCAGGAG |
9: 99,465,750 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
| Emid1 |
G |
T |
11: 5,094,322 (GRCm39) |
P63Q |
probably damaging |
Het |
| Gabre |
GCTCCG |
GCTCCGACTCCG |
X: 71,313,654 (GRCm39) |
|
probably benign |
Het |
| Gar1 |
AACTGCC |
A |
3: 129,624,337 (GRCm39) |
|
probably benign |
Het |
| Gm10181 |
GAGAGAGAGAGAGA |
G |
9: 25,000,755 (GRCm39) |
|
probably null |
Het |
| Hic1 |
GGGA |
G |
11: 75,060,281 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
CTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT |
9: 106,447,812 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Krtap4-2 |
AGGGGCGGCAGC |
A |
11: 99,525,547 (GRCm39) |
|
probably null |
Het |
| Lmx1b |
CATCTTGATGCCGTCCAA |
CA |
2: 33,530,521 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
TGGTGGTG |
T |
14: 75,185,015 (GRCm39) |
|
probably null |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCTGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
GAAC |
GAACAAC |
7: 47,671,257 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGTGAGGAGCAAGCTGAGA |
AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA |
2: 119,458,073 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
GGTGTTG |
GG |
11: 54,001,076 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Het |
| Ptms |
TCCTCCTC |
TCCTCCTCCTC |
6: 124,891,411 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
AATGGGGATTC |
AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC |
5: 90,756,791 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CAAAAAAAAAAAA |
15: 36,010,982 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
TCTC |
TCTCTCTCTCTCTCGCTC |
12: 26,364,013 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
GAG |
GAGAAG |
14: 52,386,852 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
ACACAC |
A |
12: 75,769,399 (GRCm39) |
|
probably null |
Het |
| Spaca1 |
TCTCGC |
TCTCGCGCTCGC |
4: 34,049,846 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GGA |
GGATGA |
X: 98,110,126 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GA |
GAGCA |
X: 98,110,133 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGATCCCCTTGGC |
AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC |
18: 60,966,644 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
TGGGCTTG |
TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tmed6 |
AGC |
AGCTCGC |
8: 107,788,228 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,154 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
probably null |
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 |
|
R6741:Slc39a4
|
UTSW |
15 |
76,498,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- AACAGACCCATGGAAGGTTG -3'
(R):5'- GGACTTTGTGTTCAGGCTACAC -3'
Sequencing Primer
(F):5'- GTCTTCTTTCTCCAGAATGGCATGAG -3'
(R):5'- CAATATCACGCTGCATGGTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation