Incidental Mutation 'R8707:Igfals'
ID |
669318 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igfals
|
Ensembl Gene |
ENSMUSG00000046070 |
Gene Name |
insulin-like growth factor binding protein, acid labile subunit |
Synonyms |
Albs, ALS |
MMRRC Submission |
068561-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8707 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25096818-25100985 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 25099185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 92
(A92E)
|
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 |
possibly damaging
Transcript: ENSMUST00000050714
AA Change: A92E
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000060169 Gene: ENSMUSG00000046070 AA Change: A92E
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 |
|
Meta Mutation Damage Score |
0.1118 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb18 |
A |
G |
1: 89,920,857 (GRCm39) |
L140P |
probably damaging |
Het |
Ccdc8 |
C |
T |
7: 16,729,975 (GRCm39) |
A488V |
unknown |
Het |
Cfap57 |
C |
A |
4: 118,450,203 (GRCm39) |
V640F |
probably benign |
Het |
Cx3cl1 |
A |
T |
8: 95,506,375 (GRCm39) |
T127S |
probably benign |
Het |
Dars2 |
A |
G |
1: 160,884,081 (GRCm39) |
C263R |
probably damaging |
Het |
Dnajc13 |
T |
C |
9: 104,069,847 (GRCm39) |
M1135V |
probably damaging |
Het |
Echdc2 |
G |
A |
4: 108,031,028 (GRCm39) |
R169Q |
probably damaging |
Het |
Fcgbp |
C |
T |
7: 27,819,920 (GRCm39) |
A2549V |
probably benign |
Het |
Fermt1 |
G |
A |
2: 132,766,881 (GRCm39) |
T362I |
probably benign |
Het |
Fev |
A |
G |
1: 74,924,316 (GRCm39) |
|
probably null |
Het |
Gm57858 |
T |
A |
3: 36,073,070 (GRCm39) |
D404V |
probably damaging |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Inppl1 |
G |
A |
7: 101,478,903 (GRCm39) |
A33V |
|
Het |
Kcnc4 |
A |
G |
3: 107,355,449 (GRCm39) |
V333A |
possibly damaging |
Het |
Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
Lmntd2 |
G |
A |
7: 140,791,234 (GRCm39) |
R393* |
probably null |
Het |
Lrrc14 |
T |
A |
15: 76,597,416 (GRCm39) |
C109S |
probably benign |
Het |
Ms4a12 |
A |
G |
19: 11,192,736 (GRCm39) |
V200A |
possibly damaging |
Het |
Mtnr1b |
C |
A |
9: 15,785,809 (GRCm39) |
|
probably benign |
Het |
Myh15 |
G |
A |
16: 48,973,450 (GRCm39) |
C1240Y |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,552,875 (GRCm39) |
Y199C |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,510,359 (GRCm39) |
L47P |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,313,039 (GRCm39) |
T358I |
probably damaging |
Het |
Pop1 |
C |
T |
15: 34,529,349 (GRCm39) |
T823I |
probably benign |
Het |
Rad54l |
A |
G |
4: 115,954,533 (GRCm39) |
V690A |
probably benign |
Het |
Setdb2 |
G |
A |
14: 59,660,907 (GRCm39) |
Q79* |
probably null |
Het |
Svep1 |
C |
A |
4: 58,070,197 (GRCm39) |
E2530* |
probably null |
Het |
Synj1 |
T |
C |
16: 90,752,319 (GRCm39) |
D1012G |
probably benign |
Het |
Thbs2 |
C |
T |
17: 14,911,645 (GRCm39) |
G11D |
probably damaging |
Het |
Tmem177 |
G |
A |
1: 119,838,070 (GRCm39) |
A203V |
probably benign |
Het |
Trappc3l |
A |
G |
10: 33,978,727 (GRCm39) |
Y177C |
unknown |
Het |
Ube2d1 |
T |
C |
10: 71,092,478 (GRCm39) |
D122G |
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,412,965 (GRCm39) |
T116A |
probably benign |
Het |
Wasf2 |
T |
A |
4: 132,917,540 (GRCm39) |
V213E |
unknown |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTACCTGCAGGGGACAGATC -3'
(R):5'- GGTTGTTGCCCAAACTGAGTG -3'
Sequencing Primer
(F):5'- GACAGATCCTGGAGCATCAGC -3'
(R):5'- GTTGCCCAAACTGAGTGAAGCC -3'
|
Posted On |
2021-04-30 |