Incidental Mutation 'IGL02448:Igfals'
| ID |
293590 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Igfals
|
| Ensembl Gene |
ENSMUSG00000046070 |
| Gene Name |
insulin-like growth factor binding protein, acid labile subunit |
| Synonyms |
Albs, ALS |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02448
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25096818-25100985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25099161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 84
(N84I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044252]
[ENSMUST00000050714]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044252
|
| SMART Domains |
Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ParA
|
16 |
267 |
3.2e-99 |
PFAM |
|
Pfam:ArsA_ATPase
|
19 |
66 |
1.7e-8 |
PFAM |
|
Pfam:AAA_31
|
19 |
79 |
1.5e-8 |
PFAM |
|
Pfam:MipZ
|
19 |
155 |
2.1e-10 |
PFAM |
|
Pfam:CbiA
|
21 |
199 |
2.2e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050714
AA Change: N84I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070
AA Change: N84I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
LRRNT
|
40 |
78 |
9.37e-10 |
SMART |
|
LRR
|
77 |
96 |
1.62e1 |
SMART |
|
LRR
|
97 |
120 |
1.41e1 |
SMART |
|
LRR_TYP
|
121 |
144 |
6.78e-3 |
SMART |
|
LRR
|
145 |
168 |
1.03e1 |
SMART |
|
LRR_TYP
|
169 |
192 |
1.1e-2 |
SMART |
|
LRR
|
193 |
216 |
2.17e-1 |
SMART |
|
LRR_TYP
|
217 |
240 |
2.4e-3 |
SMART |
|
LRR_TYP
|
241 |
264 |
1.82e-3 |
SMART |
|
LRR
|
265 |
288 |
5.72e-1 |
SMART |
|
LRR_TYP
|
289 |
312 |
6.23e-2 |
SMART |
|
LRR_TYP
|
313 |
336 |
6.32e-3 |
SMART |
|
LRR_TYP
|
337 |
360 |
2.2e-2 |
SMART |
|
LRR
|
361 |
384 |
1.89e-1 |
SMART |
|
LRR
|
385 |
408 |
3.87e1 |
SMART |
|
LRR
|
409 |
432 |
2.67e-1 |
SMART |
|
LRR_TYP
|
433 |
456 |
1.06e-4 |
SMART |
|
LRR_TYP
|
457 |
480 |
6.78e-3 |
SMART |
|
LRR
|
481 |
504 |
1.09e2 |
SMART |
|
LRR
|
505 |
530 |
2.68e1 |
SMART |
|
LRRCT
|
535 |
582 |
5.11e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene gain weight more slowly after birth and display less growth in long bones. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl6 |
T |
A |
9: 20,786,866 (GRCm39) |
I286F |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,609,123 (GRCm39) |
E1366G |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,123,350 (GRCm39) |
I326F |
possibly damaging |
Het |
| Cc2d2a |
A |
C |
5: 43,840,547 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
T |
C |
9: 21,051,147 (GRCm39) |
E366G |
possibly damaging |
Het |
| Cdh17 |
T |
C |
4: 11,784,680 (GRCm39) |
S279P |
probably benign |
Het |
| Cdh18 |
T |
C |
15: 23,173,875 (GRCm39) |
S30P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 68,002,518 (GRCm39) |
T2238A |
probably benign |
Het |
| Cpped1 |
C |
T |
16: 11,623,253 (GRCm39) |
E289K |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,184,044 (GRCm39) |
Y293N |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,369,493 (GRCm39) |
N20S |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,128,393 (GRCm39) |
C1304* |
probably null |
Het |
| Hsd3b5 |
C |
T |
3: 98,529,447 (GRCm39) |
G61E |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,057,862 (GRCm39) |
V190D |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,388,739 (GRCm39) |
L804Q |
probably damaging |
Het |
| Kcnj2 |
G |
T |
11: 110,963,108 (GRCm39) |
V167L |
probably benign |
Het |
| Kif20a |
T |
C |
18: 34,761,507 (GRCm39) |
V300A |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,741,991 (GRCm39) |
|
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,158,617 (GRCm39) |
F424L |
probably damaging |
Het |
| Mpeg1 |
A |
C |
19: 12,439,973 (GRCm39) |
D477A |
probably benign |
Het |
| Mtmr10 |
A |
T |
7: 63,957,898 (GRCm39) |
Y166F |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,422,226 (GRCm39) |
I4454S |
possibly damaging |
Het |
| Ntng1 |
G |
A |
3: 109,841,875 (GRCm39) |
|
probably benign |
Het |
| Or52r1b |
T |
C |
7: 102,691,604 (GRCm39) |
I306T |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,937 (GRCm39) |
L175* |
probably null |
Het |
| Pex11a |
A |
T |
7: 79,387,208 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,333,960 (GRCm39) |
D911G |
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,279,817 (GRCm39) |
T471A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,708 (GRCm39) |
L2214Q |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,977,830 (GRCm39) |
S120T |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,804,491 (GRCm39) |
|
probably benign |
Het |
| Sh3yl1 |
G |
T |
12: 30,989,666 (GRCm39) |
A129S |
probably damaging |
Het |
| Slc25a10 |
A |
G |
11: 120,387,879 (GRCm39) |
T191A |
probably benign |
Het |
| Slc8b1 |
T |
C |
5: 120,663,856 (GRCm39) |
S359P |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,866,349 (GRCm39) |
T136A |
possibly damaging |
Het |
| Stx1a |
G |
T |
5: 135,052,473 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
A |
9: 15,221,690 (GRCm39) |
C224* |
probably null |
Het |
| Tnik |
A |
G |
3: 28,675,226 (GRCm39) |
S700G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,773,331 (GRCm39) |
H2357R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,566,458 (GRCm39) |
E28145G |
probably damaging |
Het |
| Ush1c |
C |
A |
7: 45,858,561 (GRCm39) |
V576F |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,492,726 (GRCm39) |
E19G |
probably benign |
Het |
| Zdhhc25 |
G |
A |
15: 88,485,045 (GRCm39) |
V127M |
probably damaging |
Het |
|
| Other mutations in Igfals |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Igfals
|
APN |
17 |
25,100,634 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01796:Igfals
|
APN |
17 |
25,099,056 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1022:Igfals
|
UTSW |
17 |
25,099,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1024:Igfals
|
UTSW |
17 |
25,099,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1127:Igfals
|
UTSW |
17 |
25,099,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1653:Igfals
|
UTSW |
17 |
25,100,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1827:Igfals
|
UTSW |
17 |
25,099,278 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3872:Igfals
|
UTSW |
17 |
25,100,579 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3873:Igfals
|
UTSW |
17 |
25,100,579 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3874:Igfals
|
UTSW |
17 |
25,100,579 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4278:Igfals
|
UTSW |
17 |
25,100,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5360:Igfals
|
UTSW |
17 |
25,099,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5417:Igfals
|
UTSW |
17 |
25,099,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Igfals
|
UTSW |
17 |
25,100,439 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6261:Igfals
|
UTSW |
17 |
25,100,339 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7061:Igfals
|
UTSW |
17 |
25,099,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Igfals
|
UTSW |
17 |
25,100,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Igfals
|
UTSW |
17 |
25,098,962 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7699:Igfals
|
UTSW |
17 |
25,099,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7700:Igfals
|
UTSW |
17 |
25,099,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Igfals
|
UTSW |
17 |
25,099,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8707:Igfals
|
UTSW |
17 |
25,099,185 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8900:Igfals
|
UTSW |
17 |
25,099,014 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9071:Igfals
|
UTSW |
17 |
25,099,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9389:Igfals
|
UTSW |
17 |
25,100,600 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9655:Igfals
|
UTSW |
17 |
25,099,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation