Incidental Mutation 'R8427:Slc40a1'
| ID |
653499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc40a1
|
| Ensembl Gene |
ENSMUSG00000025993 |
| Gene Name |
solute carrier family 40 (iron-regulated transporter), member 1 |
| Synonyms |
ferroportin1, IREG1, MTP1, metal transporting protein 1, Pcm, Ol5, Slc11a3, Dusg, FPN1 |
| MMRRC Submission |
067821-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8427 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 45951498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 220
(Y220D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
|
| AlphaFold |
Q9JHI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027137
AA Change: Y220D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: Y220D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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 is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit embryonic lethality before embryo turning. Mice heterozygous for a targeted mutation display decreased thermal response latency. Mice heterozygous for an ENU induced mutation display abnormal iron homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
G |
T |
12: 72,950,060 (GRCm39) |
S271R |
possibly damaging |
Het |
| Adrb2 |
A |
G |
18: 62,312,345 (GRCm39) |
V160A |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,167,820 (GRCm39) |
D113G |
possibly damaging |
Het |
| B4galt7 |
T |
A |
13: 55,757,138 (GRCm39) |
V312D |
possibly damaging |
Het |
| Bccip |
A |
G |
7: 133,311,220 (GRCm39) |
D45G |
probably benign |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,860 (GRCm39) |
Y151C |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,604,790 (GRCm39) |
E16G |
unknown |
Het |
| Cdr2l |
C |
A |
11: 115,284,865 (GRCm39) |
D400E |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,299,949 (GRCm39) |
*2920E |
probably null |
Het |
| Cib1 |
A |
G |
7: 79,877,749 (GRCm39) |
F183L |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,460,952 (GRCm39) |
Y1716H |
probably benign |
Het |
| Copb1 |
A |
G |
7: 113,825,989 (GRCm39) |
V665A |
probably benign |
Het |
| Crmp1 |
C |
T |
5: 37,448,539 (GRCm39) |
T683I |
probably damaging |
Het |
| Cubn |
G |
C |
2: 13,433,567 (GRCm39) |
F1114L |
probably benign |
Het |
| Dab2 |
A |
T |
15: 6,458,840 (GRCm39) |
R251* |
probably null |
Het |
| Ddx28 |
A |
G |
8: 106,736,912 (GRCm39) |
V382A |
probably benign |
Het |
| Eml1 |
C |
A |
12: 108,496,580 (GRCm39) |
T612K |
probably damaging |
Het |
| Hoxb3 |
CGGCGGTGGCGG |
CGGCGGTGGCGGTGGCGG |
11: 96,236,415 (GRCm39) |
|
probably benign |
Het |
| Hoxb3 |
TGGCGG |
TGGCGGAGGCGG |
11: 96,236,421 (GRCm39) |
|
probably benign |
Het |
| Iapp |
T |
A |
6: 142,244,612 (GRCm39) |
I13N |
probably damaging |
Het |
| Ifit1bl1 |
A |
T |
19: 34,576,666 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
T |
A |
11: 115,882,544 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,124,934 (GRCm39) |
V128A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,756,720 (GRCm39) |
F1176L |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,220,462 (GRCm39) |
T1031A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,281,641 (GRCm39) |
D3910G |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,592,001 (GRCm39) |
S60T |
probably benign |
Het |
| Mdh1 |
C |
T |
11: 21,514,138 (GRCm39) |
R93K |
probably benign |
Het |
| Mical1 |
G |
T |
10: 41,354,591 (GRCm39) |
K142N |
probably damaging |
Het |
| Nf2 |
T |
A |
11: 4,741,118 (GRCm39) |
E365D |
probably benign |
Het |
| Nfrkb |
A |
G |
9: 31,330,323 (GRCm39) |
M1192V |
probably benign |
Het |
| Npas4 |
A |
C |
19: 5,036,108 (GRCm39) |
D685E |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,918,606 (GRCm39) |
I162F |
probably damaging |
Het |
| Or12k5 |
G |
T |
2: 36,894,794 (GRCm39) |
Y277* |
probably null |
Het |
| Or4f4-ps1 |
A |
G |
2: 111,330,310 (GRCm39) |
T238A |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,393,207 (GRCm39) |
T222I |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,142,795 (GRCm39) |
I668F |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ppa1 |
A |
G |
10: 61,496,704 (GRCm39) |
D64G |
possibly damaging |
Het |
| Rnf133 |
T |
C |
6: 23,649,405 (GRCm39) |
I175V |
probably benign |
Het |
| Rpp30 |
A |
G |
19: 36,071,812 (GRCm39) |
I127V |
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,399,797 (GRCm39) |
H913L |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,507,197 (GRCm39) |
S1045T |
probably benign |
Het |
| Skida1 |
A |
T |
2: 18,051,402 (GRCm39) |
N496K |
unknown |
Het |
| Slc29a2 |
A |
T |
19: 5,080,448 (GRCm39) |
I397F |
probably benign |
Het |
| Slc38a2 |
G |
T |
15: 96,590,294 (GRCm39) |
R316S |
probably damaging |
Het |
| Strc |
T |
G |
2: 121,208,012 (GRCm39) |
H453P |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,407,358 (GRCm39) |
I312F |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,958,256 (GRCm39) |
T529I |
probably damaging |
Het |
| Tnr |
A |
T |
1: 159,713,801 (GRCm39) |
D743V |
possibly damaging |
Het |
| Trim42 |
A |
T |
9: 97,245,174 (GRCm39) |
F542Y |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,747,236 (GRCm39) |
Y1421N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,576,901 (GRCm39) |
E24664G |
probably damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,092,250 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
T |
12: 103,045,297 (GRCm39) |
R824S |
probably benign |
Het |
| V1ra8 |
A |
G |
6: 90,180,559 (GRCm39) |
D254G |
probably damaging |
Het |
| Vmn1r173 |
A |
T |
7: 23,401,959 (GRCm39) |
I65F |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,138 (GRCm39) |
M337K |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,431 (GRCm39) |
G487C |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,242,926 (GRCm39) |
Y127C |
probably damaging |
Het |
| Zfp229 |
T |
C |
17: 21,965,815 (GRCm39) |
S682P |
probably damaging |
Het |
| Zscan4-ps1 |
A |
T |
7: 10,802,447 (GRCm39) |
D117E |
possibly damaging |
Het |
|
| Other mutations in Slc40a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Slc40a1
|
APN |
1 |
45,948,652 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01576:Slc40a1
|
APN |
1 |
45,948,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02113:Slc40a1
|
APN |
1 |
45,950,054 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02116:Slc40a1
|
APN |
1 |
45,950,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02220:Slc40a1
|
APN |
1 |
45,950,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02537:Slc40a1
|
APN |
1 |
45,950,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02574:Slc40a1
|
APN |
1 |
45,951,534 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02673:Slc40a1
|
APN |
1 |
45,957,576 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02794:Slc40a1
|
APN |
1 |
45,948,668 (GRCm39) |
nonsense |
probably null |
|
|
R0376:Slc40a1
|
UTSW |
1 |
45,951,651 (GRCm39) |
splice site |
probably benign |
|
|
R0417:Slc40a1
|
UTSW |
1 |
45,950,534 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1608:Slc40a1
|
UTSW |
1 |
45,950,457 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1723:Slc40a1
|
UTSW |
1 |
45,963,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Slc40a1
|
UTSW |
1 |
45,950,302 (GRCm39) |
nonsense |
probably null |
|
|
R2092:Slc40a1
|
UTSW |
1 |
45,948,614 (GRCm39) |
missense |
probably benign |
|
|
R2303:Slc40a1
|
UTSW |
1 |
45,950,044 (GRCm39) |
splice site |
probably benign |
|
|
R2365:Slc40a1
|
UTSW |
1 |
45,963,873 (GRCm39) |
splice site |
probably null |
|
|
R3718:Slc40a1
|
UTSW |
1 |
45,950,151 (GRCm39) |
missense |
probably benign |
|
|
R4689:Slc40a1
|
UTSW |
1 |
45,951,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4994:Slc40a1
|
UTSW |
1 |
45,948,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Slc40a1
|
UTSW |
1 |
45,958,155 (GRCm39) |
nonsense |
probably null |
|
|
R5151:Slc40a1
|
UTSW |
1 |
45,950,516 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5364:Slc40a1
|
UTSW |
1 |
45,964,383 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5404:Slc40a1
|
UTSW |
1 |
45,951,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Slc40a1
|
UTSW |
1 |
45,951,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Slc40a1
|
UTSW |
1 |
45,951,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:Slc40a1
|
UTSW |
1 |
45,964,422 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R6455:Slc40a1
|
UTSW |
1 |
45,958,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6975:Slc40a1
|
UTSW |
1 |
45,948,652 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7085:Slc40a1
|
UTSW |
1 |
45,950,688 (GRCm39) |
missense |
probably benign |
|
|
R7130:Slc40a1
|
UTSW |
1 |
45,960,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7502:Slc40a1
|
UTSW |
1 |
45,958,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7755:Slc40a1
|
UTSW |
1 |
45,950,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8085:Slc40a1
|
UTSW |
1 |
45,957,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Slc40a1
|
UTSW |
1 |
45,950,129 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8308:Slc40a1
|
UTSW |
1 |
45,950,180 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8333:Slc40a1
|
UTSW |
1 |
45,950,439 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8493:Slc40a1
|
UTSW |
1 |
45,950,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8515:Slc40a1
|
UTSW |
1 |
45,951,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8817:Slc40a1
|
UTSW |
1 |
45,948,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8981:Slc40a1
|
UTSW |
1 |
45,948,580 (GRCm39) |
missense |
probably benign |
|
|
R8987:Slc40a1
|
UTSW |
1 |
45,950,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Slc40a1
|
UTSW |
1 |
45,948,621 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9183:Slc40a1
|
UTSW |
1 |
45,948,671 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9242:Slc40a1
|
UTSW |
1 |
45,950,129 (GRCm39) |
missense |
probably benign |
|
|
R9522:Slc40a1
|
UTSW |
1 |
45,948,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9582:Slc40a1
|
UTSW |
1 |
45,950,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Slc40a1
|
UTSW |
1 |
45,951,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGACTAGAACTTGGTCTTCAC -3'
(R):5'- AGAGTGCCTTCAGGAGCAAC -3'
Sequencing Primer
(F):5'- GGTCTTCACAGAAAAGTTCAAGGTC -3'
(R):5'- CAAAGGTTGTAACTCTCACTTACCTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation