Incidental Mutation 'R5103:Slc40a1'
ID |
392451 |
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 |
042691-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5103 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 45958155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 93
(Q93*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
[ENSMUST00000186804]
[ENSMUST00000187406]
[ENSMUST00000187420]
|
AlphaFold |
Q9JHI9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027137
AA Change: Q93*
|
SMART Domains |
Protein: ENSMUSP00000027137 Gene: ENSMUSG00000025993 AA Change: Q93*
Domain | Start | End | E-Value | Type |
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186755
|
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 |
noncoding transcript
Transcript: ENSMUST00000186822
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188252
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191247
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
99% (82/83) |
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 |
Agbl5 |
G |
A |
5: 31,051,345 (GRCm39) |
R518H |
probably damaging |
Het |
Agfg1 |
T |
C |
1: 82,871,288 (GRCm39) |
S486P |
probably damaging |
Het |
Arhgap18 |
A |
G |
10: 26,745,978 (GRCm39) |
D283G |
probably damaging |
Het |
Asb1 |
A |
G |
1: 91,480,066 (GRCm39) |
N162S |
possibly damaging |
Het |
Capn1 |
A |
G |
19: 6,059,140 (GRCm39) |
Y274H |
probably damaging |
Het |
Cdk5 |
A |
T |
5: 24,627,833 (GRCm39) |
V30E |
probably damaging |
Het |
Cep290 |
T |
G |
10: 100,374,882 (GRCm39) |
L1376W |
probably damaging |
Het |
Crybg1 |
T |
A |
10: 43,873,944 (GRCm39) |
T1055S |
probably damaging |
Het |
Cyp2c70 |
A |
G |
19: 40,149,076 (GRCm39) |
Y357H |
probably damaging |
Het |
Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
Eml6 |
T |
A |
11: 29,800,905 (GRCm39) |
E367V |
possibly damaging |
Het |
Emp1 |
A |
G |
6: 135,358,073 (GRCm39) |
T140A |
probably benign |
Het |
Ergic3 |
T |
C |
2: 155,850,545 (GRCm39) |
V74A |
probably benign |
Het |
Fancm |
A |
T |
12: 65,152,632 (GRCm39) |
L1029F |
probably damaging |
Het |
Fank1 |
C |
A |
7: 133,478,570 (GRCm39) |
C210* |
probably null |
Het |
Fbxo31 |
T |
C |
8: 122,279,101 (GRCm39) |
D462G |
probably damaging |
Het |
Frem1 |
G |
A |
4: 82,909,849 (GRCm39) |
A736V |
probably benign |
Het |
Fshr |
T |
C |
17: 89,404,796 (GRCm39) |
T56A |
possibly damaging |
Het |
Gm5901 |
A |
T |
7: 105,026,589 (GRCm39) |
|
probably null |
Het |
Golga2 |
A |
G |
2: 32,193,758 (GRCm39) |
E458G |
probably benign |
Het |
Grik2 |
T |
A |
10: 49,372,205 (GRCm39) |
I335F |
probably benign |
Het |
Grin1 |
T |
A |
2: 25,200,433 (GRCm39) |
M230L |
probably benign |
Het |
Gtf2f1 |
C |
T |
17: 57,311,519 (GRCm39) |
G297D |
probably damaging |
Het |
H2-T5 |
T |
C |
17: 36,472,577 (GRCm39) |
|
probably benign |
Het |
Hacd1 |
T |
C |
2: 14,045,724 (GRCm39) |
T136A |
probably damaging |
Het |
Hdac5 |
T |
A |
11: 102,087,109 (GRCm39) |
S24C |
probably damaging |
Het |
Jtb |
T |
C |
3: 90,139,394 (GRCm39) |
|
probably benign |
Het |
Kif1a |
C |
T |
1: 92,974,418 (GRCm39) |
G979E |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,261,868 (GRCm39) |
M345V |
probably damaging |
Het |
Mfsd14b |
A |
G |
13: 65,234,907 (GRCm39) |
V90A |
possibly damaging |
Het |
Micu1 |
T |
C |
10: 59,624,806 (GRCm39) |
Y283H |
possibly damaging |
Het |
Mmp2 |
C |
T |
8: 93,558,413 (GRCm39) |
R161* |
probably null |
Het |
Mrpl2 |
G |
A |
17: 46,960,964 (GRCm39) |
R286Q |
probably benign |
Het |
Msh5 |
T |
C |
17: 35,248,215 (GRCm39) |
I783V |
possibly damaging |
Het |
Myo3b |
T |
A |
2: 69,926,747 (GRCm39) |
F65I |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,587,605 (GRCm39) |
V37L |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 70,990,352 (GRCm39) |
T967S |
probably damaging |
Het |
Nolc1 |
A |
T |
19: 46,070,103 (GRCm39) |
K291* |
probably null |
Het |
Or1j18 |
A |
T |
2: 36,624,680 (GRCm39) |
T116S |
probably benign |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or8d2b |
G |
T |
9: 38,788,872 (GRCm39) |
M133I |
probably damaging |
Het |
Or8u8 |
C |
A |
2: 86,011,960 (GRCm39) |
R165L |
probably benign |
Het |
Paip1 |
A |
G |
13: 119,574,515 (GRCm39) |
E70G |
possibly damaging |
Het |
Palmd |
T |
A |
3: 116,721,070 (GRCm39) |
E127V |
probably damaging |
Het |
Paqr6 |
T |
A |
3: 88,275,024 (GRCm39) |
C262* |
probably null |
Het |
Pdcd11 |
A |
G |
19: 47,112,893 (GRCm39) |
H1301R |
probably benign |
Het |
Plce1 |
C |
A |
19: 38,755,659 (GRCm39) |
D1896E |
probably damaging |
Het |
Ppib |
A |
G |
9: 65,968,747 (GRCm39) |
|
probably null |
Het |
Pzp |
C |
T |
6: 128,479,192 (GRCm39) |
V654M |
probably benign |
Het |
Rab26 |
T |
C |
17: 24,753,071 (GRCm39) |
|
probably benign |
Het |
Recql4 |
A |
G |
15: 76,590,956 (GRCm39) |
L468P |
probably damaging |
Het |
Retreg1 |
C |
T |
15: 25,968,540 (GRCm39) |
Q65* |
probably null |
Het |
Rhpn1 |
C |
T |
15: 75,586,064 (GRCm39) |
T659I |
possibly damaging |
Het |
Rmc1 |
A |
G |
18: 12,322,319 (GRCm39) |
I591V |
probably benign |
Het |
Slc12a5 |
C |
A |
2: 164,834,353 (GRCm39) |
H791Q |
probably damaging |
Het |
Slc4a1 |
T |
C |
11: 102,244,087 (GRCm39) |
M681V |
possibly damaging |
Het |
Slc6a9 |
T |
A |
4: 117,725,352 (GRCm39) |
F493L |
probably benign |
Het |
Smc2 |
A |
G |
4: 52,459,033 (GRCm39) |
E476G |
probably damaging |
Het |
Smco4 |
G |
T |
9: 15,456,090 (GRCm39) |
E59* |
probably null |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,111,054 (GRCm39) |
L167Q |
probably damaging |
Het |
Sult1e1 |
C |
A |
5: 87,724,091 (GRCm39) |
V289L |
probably benign |
Het |
Tbc1d4 |
C |
A |
14: 101,696,318 (GRCm39) |
E877* |
probably null |
Het |
Tenm4 |
A |
T |
7: 96,492,164 (GRCm39) |
I1033F |
probably damaging |
Het |
Tppp2 |
T |
A |
14: 52,156,909 (GRCm39) |
F95L |
probably benign |
Het |
Trappc14 |
A |
G |
5: 138,260,562 (GRCm39) |
V288A |
probably benign |
Het |
Vmn2r41 |
G |
A |
7: 8,141,341 (GRCm39) |
L708F |
probably benign |
Het |
Washc5 |
G |
A |
15: 59,222,018 (GRCm39) |
P126L |
probably damaging |
Het |
Xkr4 |
T |
C |
1: 3,740,911 (GRCm39) |
I221V |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,983,659 (GRCm39) |
R628G |
probably benign |
Het |
Zfp207 |
T |
C |
11: 80,282,736 (GRCm39) |
L233P |
probably damaging |
Het |
Zfp827 |
T |
A |
8: 79,797,032 (GRCm39) |
C373S |
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 |
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 |
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'- AGGGTCTACATTTTCACTGCTG -3'
(R):5'- TGCAGATTTCACAGGTCTATGTACAG -3'
Sequencing Primer
(F):5'- AGCACTTATGAGATCCGGAGTTCC -3'
(R):5'- GTCTATGTACAGAAAATAACTGCGGC -3'
|
Posted On |
2016-06-15 |