Incidental Mutation 'R5417:Igfals'
ID |
427809 |
Institutional Source |
Beutler Lab
|
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 # |
R5417 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25096818-25100985 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 25099290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 127
(L127R)
|
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: L127R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060169 Gene: ENSMUSG00000046070 AA Change: L127R
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap39 |
A |
G |
15: 76,619,301 (GRCm39) |
V761A |
possibly damaging |
Het |
Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
Cfap65 |
T |
C |
1: 74,964,259 (GRCm39) |
E563G |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Col17a1 |
C |
A |
19: 47,650,829 (GRCm39) |
G732C |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,233,579 (GRCm39) |
I812V |
probably null |
Het |
Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
Dgkg |
A |
T |
16: 22,407,081 (GRCm39) |
M168K |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dolpp1 |
T |
C |
2: 30,286,249 (GRCm39) |
L18P |
probably damaging |
Het |
Eif3e |
A |
T |
15: 43,128,917 (GRCm39) |
D234E |
probably benign |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
Fbxw10 |
G |
A |
11: 62,767,990 (GRCm39) |
R942Q |
possibly damaging |
Het |
Flvcr2 |
T |
G |
12: 85,793,965 (GRCm39) |
F114V |
probably damaging |
Het |
Gm14443 |
A |
T |
2: 175,011,796 (GRCm39) |
C217S |
probably damaging |
Het |
Gphb5 |
A |
T |
12: 75,459,746 (GRCm39) |
V83E |
possibly damaging |
Het |
Gpsm1 |
T |
C |
2: 26,214,045 (GRCm39) |
|
probably null |
Het |
Grik4 |
A |
G |
9: 42,582,544 (GRCm39) |
F134S |
probably benign |
Het |
Ibsp |
G |
A |
5: 104,458,335 (GRCm39) |
E291K |
possibly damaging |
Het |
Igsf9b |
CGGCCCCGGCCCAG |
CGGCCCCGGCCCAGGCCCCGGCCCAG |
9: 27,245,572 (GRCm39) |
|
probably benign |
Het |
Iqcf3 |
T |
A |
9: 106,431,413 (GRCm39) |
D63V |
probably damaging |
Het |
Klc4 |
A |
G |
17: 46,942,957 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mapk8ip2 |
C |
A |
15: 89,341,642 (GRCm39) |
D284E |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,411,781 (GRCm39) |
T1576S |
unknown |
Het |
Nlrp3 |
G |
A |
11: 59,439,889 (GRCm39) |
G489S |
probably damaging |
Het |
Nr5a1 |
T |
A |
2: 38,598,098 (GRCm39) |
Q233L |
possibly damaging |
Het |
Nusap1 |
G |
A |
2: 119,477,624 (GRCm39) |
V345I |
probably damaging |
Het |
Or10q1 |
A |
G |
19: 13,727,217 (GRCm39) |
H249R |
probably benign |
Het |
Or4k51 |
A |
G |
2: 111,585,265 (GRCm39) |
T224A |
possibly damaging |
Het |
Or51aa2 |
A |
T |
7: 103,187,970 (GRCm39) |
V157E |
possibly damaging |
Het |
Oxr1 |
A |
G |
15: 41,683,767 (GRCm39) |
T378A |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,569,087 (GRCm39) |
F78L |
probably benign |
Het |
Pgm2l1 |
A |
T |
7: 99,921,583 (GRCm39) |
I605L |
probably benign |
Het |
Pik3c2g |
A |
G |
6: 139,682,669 (GRCm39) |
I17V |
probably benign |
Het |
Prss39 |
A |
G |
1: 34,539,209 (GRCm39) |
S150G |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scg3 |
T |
A |
9: 75,576,538 (GRCm39) |
Y279F |
probably benign |
Het |
Skic2 |
C |
T |
17: 35,065,574 (GRCm39) |
V327I |
probably damaging |
Het |
Srfbp1 |
T |
C |
18: 52,621,697 (GRCm39) |
C253R |
probably benign |
Het |
Tcirg1 |
C |
T |
19: 3,953,509 (GRCm39) |
|
probably null |
Het |
Trim37 |
A |
G |
11: 87,057,505 (GRCm39) |
Y313C |
probably damaging |
Het |
Ttll9 |
A |
T |
2: 152,844,912 (GRCm39) |
M427L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTACACAGATGAGCTCAGC -3'
(R):5'- ACCACTAGGCTGTTCCAACC -3'
Sequencing Primer
(F):5'- CACAGATGAGCTCAGCGTCTTTTG -3'
(R):5'- ACCCAGGTTGAGGTCCCAAAG -3'
|
Posted On |
2016-09-01 |