Incidental Mutation 'R8085:Slc40a1'
| ID |
629562 |
| 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 |
067518-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8085 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45957528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 152
(I152N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
[ENSMUST00000186804]
[ENSMUST00000187406]
[ENSMUST00000187420]
|
| AlphaFold |
Q9JHI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027137
AA Change: I152N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: I152N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186804
|
| SMART Domains |
Protein: ENSMUSP00000140969
Gene: ENSMUSG00000025993
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPN1
|
22 |
70 |
4.9e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187406
|
| SMART Domains |
Protein: ENSMUSP00000140734
Gene: ENSMUSG00000025993
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPN1
|
22 |
70 |
4.9e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187420
|
| SMART Domains |
Protein: ENSMUSP00000140549
Gene: ENSMUSG00000025993
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPN1
|
22 |
70 |
4.9e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.0%
|
| Validation Efficiency |
99% (81/82) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
G |
T |
9: 30,854,611 (GRCm39) |
R160L |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,895,185 (GRCm39) |
S908P |
probably benign |
Het |
| AW146154 |
C |
T |
7: 41,130,621 (GRCm39) |
G165D |
possibly damaging |
Het |
| AW146154 |
C |
A |
7: 41,130,622 (GRCm39) |
G165C |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,845,361 (GRCm39) |
G951D |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,435,683 (GRCm39) |
N250D |
probably benign |
Het |
| Coch |
G |
C |
12: 51,650,031 (GRCm39) |
G340A |
possibly damaging |
Het |
| Col18a1 |
A |
G |
10: 76,924,741 (GRCm39) |
V226A |
unknown |
Het |
| Crocc2 |
G |
A |
1: 93,130,578 (GRCm39) |
R953Q |
possibly damaging |
Het |
| Dgkh |
A |
T |
14: 78,824,558 (GRCm39) |
|
probably null |
Het |
| Disp2 |
C |
T |
2: 118,617,452 (GRCm39) |
L149F |
possibly damaging |
Het |
| Dpt |
T |
C |
1: 164,650,756 (GRCm39) |
F186S |
probably damaging |
Het |
| Eif3l |
T |
G |
15: 78,961,066 (GRCm39) |
Y40D |
probably damaging |
Het |
| Epha3 |
A |
C |
16: 63,403,873 (GRCm39) |
Y743D |
probably damaging |
Het |
| Ercc6l2 |
A |
T |
13: 63,992,367 (GRCm39) |
Y272F |
probably benign |
Het |
| Exoc2 |
G |
A |
13: 31,124,686 (GRCm39) |
L9F |
probably damaging |
Het |
| Fkbp9 |
A |
G |
6: 56,833,289 (GRCm39) |
T259A |
probably benign |
Het |
| Gm5622 |
A |
T |
14: 51,895,201 (GRCm39) |
K120M |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,679 (GRCm39) |
F2250Y |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,879,427 (GRCm39) |
I4682V |
probably benign |
Het |
| Hnf1a |
T |
C |
5: 115,108,732 (GRCm39) |
T58A |
probably benign |
Het |
| Kctd1 |
T |
A |
18: 15,140,901 (GRCm39) |
I610F |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,075,178 (GRCm39) |
D478E |
probably benign |
Het |
| Klf13 |
G |
T |
7: 63,541,497 (GRCm39) |
A210E |
probably damaging |
Het |
| Klhl20 |
C |
A |
1: 160,921,354 (GRCm39) |
G543C |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,855,715 (GRCm39) |
T699A |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,311,102 (GRCm39) |
D231E |
probably benign |
Het |
| Lonrf1 |
C |
A |
8: 36,715,769 (GRCm39) |
G289W |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,808,894 (GRCm39) |
L188P |
probably damaging |
Het |
| Mab21l2 |
T |
C |
3: 86,455,393 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,303,875 (GRCm39) |
V209A |
possibly damaging |
Het |
| Mctp1 |
A |
C |
13: 76,972,972 (GRCm39) |
R658S |
probably benign |
Het |
| Mdfi |
T |
C |
17: 48,127,042 (GRCm39) |
T178A |
probably damaging |
Het |
| Msln |
T |
A |
17: 25,971,942 (GRCm39) |
K92* |
probably null |
Het |
| Msx3 |
T |
C |
7: 139,627,998 (GRCm39) |
H113R |
unknown |
Het |
| Muc6 |
T |
A |
7: 141,226,729 (GRCm39) |
T1433S |
unknown |
Het |
| Musk |
T |
A |
4: 58,373,110 (GRCm39) |
S693R |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,225,613 (GRCm39) |
K296R |
probably benign |
Het |
| Mylip |
A |
T |
13: 45,563,928 (GRCm39) |
H427L |
possibly damaging |
Het |
| Nradd |
G |
T |
9: 110,451,179 (GRCm39) |
T63K |
possibly damaging |
Het |
| Ntaq1 |
T |
G |
15: 58,015,983 (GRCm39) |
|
probably null |
Het |
| Or5h17 |
A |
G |
16: 58,820,432 (GRCm39) |
N128S |
probably benign |
Het |
| Or5p66 |
G |
T |
7: 107,885,620 (GRCm39) |
Q238K |
probably benign |
Het |
| Osbp2 |
A |
G |
11: 3,662,521 (GRCm39) |
L187P |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,158,350 (GRCm39) |
D428G |
probably damaging |
Het |
| Oxsm |
G |
T |
14: 16,242,439 (GRCm38) |
S110* |
probably null |
Het |
| Pard6a |
A |
G |
8: 106,429,642 (GRCm39) |
Q230R |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,683,639 (GRCm39) |
W38L |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,905,384 (GRCm39) |
N1093D |
probably damaging |
Het |
| Rttn |
C |
T |
18: 89,071,672 (GRCm39) |
Q1240* |
probably null |
Het |
| Serpina1d |
T |
C |
12: 103,730,087 (GRCm39) |
E365G |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,814,462 (GRCm39) |
H1589Q |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,928,414 (GRCm39) |
P59S |
probably damaging |
Het |
| Smarca4 |
T |
A |
9: 21,570,108 (GRCm39) |
|
probably null |
Het |
| Smim33 |
A |
T |
18: 35,861,573 (GRCm39) |
D19V |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,989,870 (GRCm39) |
Y930C |
probably benign |
Het |
| Speg |
A |
G |
1: 75,391,997 (GRCm39) |
E1593G |
probably damaging |
Het |
| St3gal5 |
G |
T |
6: 72,074,925 (GRCm39) |
A62S |
unknown |
Het |
| Stx1a |
T |
C |
5: 135,066,431 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
A |
10: 5,178,021 (GRCm39) |
I4818F |
possibly damaging |
Het |
| Tango6 |
A |
G |
8: 107,447,366 (GRCm39) |
H588R |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,336,307 (GRCm39) |
Y454C |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,066,753 (GRCm39) |
Y2282H |
probably benign |
Het |
| Tle6 |
A |
T |
10: 81,431,792 (GRCm39) |
W151R |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,834,438 (GRCm39) |
M715K |
possibly damaging |
Het |
| Ubr1 |
T |
A |
2: 120,764,898 (GRCm39) |
R519* |
probably null |
Het |
| Usp1 |
A |
T |
4: 98,816,578 (GRCm39) |
N93I |
probably damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,953 (GRCm39) |
M238K |
probably damaging |
Het |
| Vmn1r238 |
A |
G |
18: 3,123,151 (GRCm39) |
Y88H |
probably damaging |
Het |
| Vmn2r62 |
A |
G |
7: 42,437,270 (GRCm39) |
Y405H |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,998 (GRCm39) |
I725M |
probably benign |
Het |
| Zfp12 |
C |
T |
5: 143,230,681 (GRCm39) |
T368M |
probably 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 |
|
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 |
|
R8427:Slc40a1
|
UTSW |
1 |
45,951,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AACTCTGTGCTTTCCATGGG -3'
(R):5'- CCACAGATCGTTTTGATTCTCTGATG -3'
Sequencing Primer
(F):5'- CCATGGGTTGTTCTGAAAACC -3'
(R):5'- CTCCTTTCTATGAACTGTCACATAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation