Incidental Mutation 'IGL00772:Slc48a1'
| ID |
14102 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc48a1
|
| Ensembl Gene |
ENSMUSG00000081534 |
| Gene Name |
solute carrier family 48 (heme transporter), member 1 |
| Synonyms |
4930570C03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL00772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97682246-97690573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97687835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 63
(Y63C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079838]
[ENSMUST00000088402]
[ENSMUST00000116408]
[ENSMUST00000116409]
[ENSMUST00000117892]
[ENSMUST00000118294]
[ENSMUST00000119670]
[ENSMUST00000135073]
[ENSMUST00000121514]
[ENSMUST00000120683]
|
| AlphaFold |
Q9D8M3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079838
|
| SMART Domains |
Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
498 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
523 |
853 |
2.5e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088402
|
| SMART Domains |
Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
492 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
517 |
847 |
2.5e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116408
|
| SMART Domains |
Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
470 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
495 |
825 |
2.3e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116409
|
| SMART Domains |
Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
507 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
532 |
862 |
9.1e-83 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117892
AA Change: Y63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112644
Gene: ENSMUSG00000081534
AA Change: Y63C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HRG
|
8 |
67 |
5.3e-11 |
PFAM |
|
Pfam:HRG
|
71 |
122 |
3.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118294
|
| SMART Domains |
Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
500 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
525 |
855 |
2.6e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119670
|
| SMART Domains |
Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
471 |
801 |
2.3e-91 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151334
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135073
|
| SMART Domains |
Protein: ENSMUSP00000122485
Gene: ENSMUSG00000081534
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121514
|
| SMART Domains |
Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
405 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
430 |
760 |
9e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228466
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120683
|
| SMART Domains |
Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
470 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
495 |
623 |
7.9e-9 |
PFAM |
|
Pfam:Hist_deacetyl
|
623 |
777 |
3.5e-50 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
T |
1: 59,209,055 (GRCm39) |
C1501* |
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,121,697 (GRCm39) |
E513G |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,876,982 (GRCm39) |
D119G |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,735,060 (GRCm39) |
|
probably benign |
Het |
| Cobl |
A |
G |
11: 12,216,985 (GRCm39) |
M419T |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,203,977 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,342,083 (GRCm39) |
Y2968D |
probably damaging |
Het |
| Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,380,992 (GRCm39) |
S494P |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,783,971 (GRCm39) |
I825N |
probably benign |
Het |
| Grk1 |
A |
G |
8: 13,455,349 (GRCm39) |
T78A |
probably benign |
Het |
| Lipi |
A |
T |
16: 75,347,254 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,209,296 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,430,199 (GRCm39) |
E636G |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,017,920 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
G |
A |
14: 65,908,011 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
A |
G |
4: 111,796,120 (GRCm39) |
I265V |
probably benign |
Het |
| Slc4a2 |
G |
T |
5: 24,640,194 (GRCm39) |
V598L |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,758,893 (GRCm39) |
K565* |
probably null |
Het |
| Spink5 |
A |
G |
18: 44,139,487 (GRCm39) |
I617V |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
| Tro |
A |
G |
X: 149,438,321 (GRCm39) |
V112A |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
|
| Other mutations in Slc48a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02751:Slc48a1
|
APN |
15 |
97,687,961 (GRCm39) |
intron |
probably benign |
|
|
R0173:Slc48a1
|
UTSW |
15 |
97,688,555 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5202:Slc48a1
|
UTSW |
15 |
97,688,581 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6057:Slc48a1
|
UTSW |
15 |
97,687,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9047:Slc48a1
|
UTSW |
15 |
97,687,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Slc48a1
|
UTSW |
15 |
97,688,562 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation