Incidental Mutation 'R4689:Slc40a1'
ID |
354748 |
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 |
041940-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4689 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 45951473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 228
(Q228L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
|
AlphaFold |
Q9JHI9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027137
AA Change: Q228L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000027137 Gene: ENSMUSG00000025993 AA Change: Q228L
Domain | Start | End | E-Value | Type |
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191247
|
Meta Mutation Damage Score |
0.1095 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
97% (72/74) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
A |
17: 46,634,996 (GRCm39) |
V336L |
probably benign |
Het |
Acbd4 |
T |
C |
11: 102,996,194 (GRCm39) |
L165P |
possibly damaging |
Het |
Adam10 |
T |
C |
9: 70,673,236 (GRCm39) |
S456P |
possibly damaging |
Het |
Adgre4 |
T |
C |
17: 56,109,096 (GRCm39) |
F368L |
probably damaging |
Het |
Ahcyl1 |
G |
T |
3: 107,572,834 (GRCm39) |
Y528* |
probably null |
Het |
Aldh3b3 |
G |
A |
19: 4,014,516 (GRCm39) |
V84M |
probably damaging |
Het |
Cdca8 |
C |
T |
4: 124,824,896 (GRCm39) |
G78E |
probably damaging |
Het |
Cry2 |
T |
C |
2: 92,254,899 (GRCm39) |
D152G |
probably benign |
Het |
Cyp2c67 |
T |
C |
19: 39,627,032 (GRCm39) |
Y266C |
probably benign |
Het |
Dkk4 |
T |
C |
8: 23,115,336 (GRCm39) |
F62S |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,427,994 (GRCm39) |
V207I |
probably benign |
Het |
Dthd1 |
T |
C |
5: 63,000,255 (GRCm39) |
C526R |
probably damaging |
Het |
Dubr |
A |
T |
16: 50,552,866 (GRCm39) |
|
noncoding transcript |
Het |
F5 |
T |
C |
1: 163,979,542 (GRCm39) |
|
probably benign |
Het |
Flcn |
A |
C |
11: 59,691,870 (GRCm39) |
W260G |
possibly damaging |
Het |
Fmnl1 |
G |
A |
11: 103,084,562 (GRCm39) |
|
probably null |
Het |
Frem2 |
A |
T |
3: 53,455,056 (GRCm39) |
D2173E |
probably benign |
Het |
Fstl4 |
C |
T |
11: 52,959,477 (GRCm39) |
Q173* |
probably null |
Het |
Gfra3 |
G |
A |
18: 34,823,640 (GRCm39) |
P381S |
unknown |
Het |
Gm28308 |
C |
A |
6: 52,190,291 (GRCm39) |
|
probably benign |
Het |
Gm8730 |
T |
A |
8: 103,592,379 (GRCm39) |
|
noncoding transcript |
Het |
Gzmd |
T |
C |
14: 56,368,683 (GRCm39) |
|
probably null |
Het |
Hexb |
A |
G |
13: 97,317,600 (GRCm39) |
Y366H |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,322,046 (GRCm39) |
H4566L |
probably benign |
Het |
Ifi213 |
G |
A |
1: 173,417,986 (GRCm39) |
T142I |
possibly damaging |
Het |
Kif13b |
T |
A |
14: 65,010,513 (GRCm39) |
C1271S |
probably damaging |
Het |
Krtap9-5 |
G |
T |
11: 99,840,286 (GRCm39) |
C329F |
unknown |
Het |
Larp1 |
G |
T |
11: 57,932,439 (GRCm39) |
G207W |
probably damaging |
Het |
Lfng |
A |
G |
5: 140,600,194 (GRCm39) |
D368G |
probably damaging |
Het |
Mbd5 |
G |
A |
2: 49,148,291 (GRCm39) |
V834I |
possibly damaging |
Het |
Mterf1b |
T |
A |
5: 4,247,263 (GRCm39) |
Y301* |
probably null |
Het |
Myh7b |
T |
C |
2: 155,472,434 (GRCm39) |
I1305T |
possibly damaging |
Het |
Myo16 |
T |
C |
8: 10,488,890 (GRCm39) |
V687A |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,285,320 (GRCm39) |
I1292N |
probably damaging |
Het |
Nmral1 |
A |
G |
16: 4,532,422 (GRCm39) |
F130L |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,017,450 (GRCm39) |
N271S |
probably benign |
Het |
Nrap |
A |
G |
19: 56,374,458 (GRCm39) |
S23P |
probably damaging |
Het |
Or12d16-ps1 |
A |
T |
17: 37,705,662 (GRCm39) |
N77I |
probably damaging |
Het |
Or2aj4 |
A |
T |
16: 19,385,263 (GRCm39) |
Y123* |
probably null |
Het |
Or4e2 |
T |
C |
14: 52,688,671 (GRCm39) |
I267T |
probably benign |
Het |
Or6c210 |
T |
C |
10: 129,496,185 (GRCm39) |
V170A |
probably benign |
Het |
Pkdcc |
C |
G |
17: 83,523,290 (GRCm39) |
C132W |
probably damaging |
Het |
Plekhg6 |
G |
A |
6: 125,350,144 (GRCm39) |
L265F |
probably benign |
Het |
Prkaa1 |
A |
G |
15: 5,208,177 (GRCm39) |
T473A |
probably benign |
Het |
Prpf3 |
G |
A |
3: 95,743,801 (GRCm39) |
Q451* |
probably null |
Het |
Psma5-ps |
T |
A |
10: 85,150,065 (GRCm39) |
|
noncoding transcript |
Het |
Ptprh |
T |
A |
7: 4,600,996 (GRCm39) |
D127V |
possibly damaging |
Het |
Rab36 |
T |
C |
10: 74,877,765 (GRCm39) |
|
probably null |
Het |
Rasa1 |
A |
T |
13: 85,386,282 (GRCm39) |
Y427* |
probably null |
Het |
Rgs11 |
T |
C |
17: 26,423,521 (GRCm39) |
|
probably null |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Shank2 |
G |
A |
7: 143,974,342 (GRCm39) |
V1087I |
probably benign |
Het |
Slc39a10 |
A |
C |
1: 46,875,173 (GRCm39) |
M43R |
probably benign |
Het |
Slc45a1 |
A |
T |
4: 150,722,996 (GRCm39) |
L296Q |
probably benign |
Het |
Stambpl1 |
A |
G |
19: 34,213,691 (GRCm39) |
T307A |
probably benign |
Het |
Stt3a |
T |
C |
9: 36,644,225 (GRCm39) |
T705A |
possibly damaging |
Het |
Tec |
G |
A |
5: 72,980,980 (GRCm39) |
|
probably benign |
Het |
Trp63 |
A |
T |
16: 25,684,012 (GRCm39) |
T300S |
possibly damaging |
Het |
Vmn1r235 |
A |
G |
17: 21,482,623 (GRCm39) |
H316R |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 64,012,074 (GRCm39) |
H645R |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,831,505 (GRCm39) |
I907T |
possibly damaging |
Het |
Zcchc10 |
A |
G |
11: 53,218,151 (GRCm39) |
T33A |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,710,560 (GRCm39) |
V761D |
probably damaging |
Het |
Zfp358 |
T |
C |
8: 3,546,146 (GRCm39) |
|
probably null |
Het |
Zfp661 |
G |
A |
2: 127,419,468 (GRCm39) |
P224L |
probably damaging |
Het |
Zfp937 |
T |
C |
2: 150,078,706 (GRCm39) |
M33T |
probably damaging |
Het |
Zfp955a |
T |
C |
17: 33,461,040 (GRCm39) |
H364R |
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 |
|
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 |
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'- ACCCACAGTTCTTTCCAGAATCTG -3'
(R):5'- GCACCTACCTGTGTAGACATG -3'
Sequencing Primer
(F):5'- AGATGATATTCCAACTCATCTAGGC -3'
(R):5'- CCTACCTGTGTAGACATGAATGC -3'
|
Posted On |
2015-10-21 |