Incidental Mutation 'R4682:Slc46a1'
| ID |
350085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc46a1
|
| Ensembl Gene |
ENSMUSG00000020829 |
| Gene Name |
solute carrier family 46, member 1 |
| Synonyms |
HCP1, heme carrier protein 1, D11Ertd18e, 1110002C08Rik, PCFT |
| MMRRC Submission |
041934-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4682 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78356527-78362771 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78359502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 378
(K378R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001126]
[ENSMUST00000061174]
[ENSMUST00000108287]
[ENSMUST00000146431]
|
| AlphaFold |
Q6PEM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001126
AA Change: K378R
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001126
Gene: ENSMUSG00000020829
AA Change: K378R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
29 |
443 |
5.8e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061174
|
| SMART Domains |
Protein: ENSMUSP00000051059
Gene: ENSMUSG00000050132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
339 |
N/A |
INTRINSIC |
|
SAM
|
409 |
476 |
1.46e-19 |
SMART |
|
SAM
|
479 |
548 |
9.5e-10 |
SMART |
|
TIR
|
561 |
702 |
6.73e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108287
|
| SMART Domains |
Protein: ENSMUSP00000103922
Gene: ENSMUSG00000050132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
339 |
N/A |
INTRINSIC |
|
SAM
|
409 |
476 |
1.46e-19 |
SMART |
|
SAM
|
479 |
548 |
2.15e-8 |
SMART |
|
TIR
|
601 |
742 |
6.73e-20 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146431
AA Change: S94G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180786
|
| Meta Mutation Damage Score |
0.4328 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (45/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating and liver levels of N-homocysteine and total homocysteine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
| Aurkc |
G |
A |
7: 6,998,538 (GRCm39) |
V33M |
probably null |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
| Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
| Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
| Grhl1 |
T |
G |
12: 24,658,432 (GRCm39) |
V359G |
probably benign |
Het |
| Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,659,800 (GRCm39) |
A279S |
probably damaging |
Het |
| Mad1l1 |
A |
T |
5: 140,286,007 (GRCm39) |
M296K |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
A |
7: 100,198,576 (GRCm39) |
D192V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,108,879 (GRCm39) |
T731A |
noncoding transcript |
Het |
| Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
| Slc36a4 |
C |
A |
9: 15,638,144 (GRCm39) |
S190* |
probably null |
Het |
| Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
| Traf7 |
T |
C |
17: 24,732,348 (GRCm39) |
K159E |
probably damaging |
Het |
| Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
probably damaging |
Het |
|
| Other mutations in Slc46a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0242:Slc46a1
|
UTSW |
11 |
78,359,493 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0242:Slc46a1
|
UTSW |
11 |
78,359,493 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0255:Slc46a1
|
UTSW |
11 |
78,361,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1356:Slc46a1
|
UTSW |
11 |
78,361,550 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2088:Slc46a1
|
UTSW |
11 |
78,359,471 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2273:Slc46a1
|
UTSW |
11 |
78,357,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2274:Slc46a1
|
UTSW |
11 |
78,357,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2275:Slc46a1
|
UTSW |
11 |
78,357,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4627:Slc46a1
|
UTSW |
11 |
78,357,715 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5513:Slc46a1
|
UTSW |
11 |
78,357,376 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5739:Slc46a1
|
UTSW |
11 |
78,357,975 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6033:Slc46a1
|
UTSW |
11 |
78,356,833 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6033:Slc46a1
|
UTSW |
11 |
78,356,833 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6351:Slc46a1
|
UTSW |
11 |
78,357,985 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6807:Slc46a1
|
UTSW |
11 |
78,357,790 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6885:Slc46a1
|
UTSW |
11 |
78,357,805 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7454:Slc46a1
|
UTSW |
11 |
78,357,337 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8425:Slc46a1
|
UTSW |
11 |
78,359,471 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8772:Slc46a1
|
UTSW |
11 |
78,356,777 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTCTCATTCAAAAGATTGGGC -3'
(R):5'- TCCACAGCATCTGTCTCCAG -3'
Sequencing Primer
(F):5'- TTCAAAAGATTGGGCAGAAAGCTTC -3'
(R):5'- TGTCTCCAGCCAGCTCTGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation