Incidental Mutation 'IGL01796:Igfals'
| ID |
155350 |
| 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 # |
IGL01796
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25096818-25100985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25099056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 49
(Y49C)
|
| 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: Y49C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070
AA Change: Y49C
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,590,273 (GRCm39) |
Y511H |
probably damaging |
Het |
| Abca7 |
T |
G |
10: 79,849,743 (GRCm39) |
Y1948D |
probably damaging |
Het |
| Adgrl2 |
C |
A |
3: 148,564,611 (GRCm39) |
G319V |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,715,461 (GRCm39) |
D909V |
probably benign |
Het |
| Anapc16 |
T |
C |
10: 59,824,579 (GRCm39) |
E119G |
possibly damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,886 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cbr1 |
A |
C |
16: 93,405,119 (GRCm39) |
N89T |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,146,916 (GRCm39) |
Q2778L |
probably benign |
Het |
| Clca4c-ps |
A |
G |
3: 144,595,340 (GRCm39) |
|
noncoding transcript |
Het |
| Cst9 |
T |
C |
2: 148,677,269 (GRCm39) |
F47L |
probably damaging |
Het |
| Dqx1 |
T |
C |
6: 83,043,408 (GRCm39) |
|
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,692,794 (GRCm39) |
S150G |
probably benign |
Het |
| E2f2 |
A |
T |
4: 135,907,728 (GRCm39) |
K142* |
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,276,785 (GRCm39) |
H169Q |
probably benign |
Het |
| Fmo9 |
C |
T |
1: 166,490,904 (GRCm39) |
A525T |
probably benign |
Het |
| Gm42878 |
T |
C |
5: 121,683,247 (GRCm39) |
D6G |
probably benign |
Het |
| Il22b |
T |
C |
10: 118,126,069 (GRCm39) |
N176S |
possibly damaging |
Het |
| Ipo7 |
T |
C |
7: 109,629,055 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,121,657 (GRCm39) |
E784G |
probably damaging |
Het |
| Jcad |
G |
T |
18: 4,672,855 (GRCm39) |
E206* |
probably null |
Het |
| Kif24 |
A |
T |
4: 41,392,978 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,809,886 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
G |
17: 75,534,240 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
C |
T |
9: 57,045,244 (GRCm39) |
T451I |
possibly damaging |
Het |
| Manba |
T |
A |
3: 135,248,150 (GRCm39) |
N346K |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,825,964 (GRCm39) |
|
probably benign |
Het |
| Nfat5 |
T |
C |
8: 108,094,273 (GRCm39) |
V744A |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,985,192 (GRCm39) |
M98T |
possibly damaging |
Het |
| Nos1 |
A |
T |
5: 118,076,339 (GRCm39) |
K1120* |
probably null |
Het |
| Or11g25 |
C |
A |
14: 50,722,998 (GRCm39) |
Q28K |
probably benign |
Het |
| Plekho1 |
C |
T |
3: 95,898,147 (GRCm39) |
R172H |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,976,750 (GRCm39) |
C391S |
possibly damaging |
Het |
| Scn1a |
G |
A |
2: 66,162,645 (GRCm39) |
|
probably benign |
Het |
| Sgce |
T |
G |
6: 4,711,326 (GRCm39) |
N149H |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,728,426 (GRCm39) |
W126R |
probably damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,147,404 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
T |
A |
3: 83,845,362 (GRCm39) |
K423* |
probably null |
Het |
| Tnrc18 |
C |
T |
5: 142,750,642 (GRCm39) |
E1444K |
possibly damaging |
Het |
| Tpp1 |
T |
C |
7: 105,396,857 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
C |
1: 84,705,999 (GRCm39) |
S610R |
probably benign |
Het |
| Ushbp1 |
G |
T |
8: 71,840,076 (GRCm39) |
A525E |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,314 (GRCm39) |
M695K |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,915,585 (GRCm39) |
I455T |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,370,621 (GRCm39) |
F686S |
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 |
|
IGL02448:Igfals
|
APN |
17 |
25,099,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation