Incidental Mutation 'R1127:Igfals'
ID |
96359 |
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 |
039200-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1127 (G1)
|
Quality Score |
112 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25096818-25100985 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 25099455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 182
(L182R)
|
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: L182R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060169 Gene: ENSMUSG00000046070 AA Change: L182R
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: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
Aplf |
T |
C |
6: 87,623,273 (GRCm39) |
T269A |
probably benign |
Het |
Cavin4 |
T |
C |
4: 48,663,637 (GRCm39) |
S6P |
probably damaging |
Het |
Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,759,127 (GRCm39) |
S41P |
possibly damaging |
Het |
Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
Fam110b |
T |
A |
4: 5,799,434 (GRCm39) |
L284Q |
probably damaging |
Het |
Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nxn |
A |
T |
11: 76,164,895 (GRCm39) |
C205* |
probably null |
Het |
Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
Pamr1 |
A |
T |
2: 102,469,698 (GRCm39) |
I415F |
possibly damaging |
Het |
Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
Pramel29 |
G |
A |
4: 143,933,694 (GRCm39) |
T471I |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
Pus7 |
G |
A |
5: 23,973,793 (GRCm39) |
H234Y |
probably benign |
Het |
Rd3l |
A |
G |
12: 111,946,717 (GRCm39) |
Y20H |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCATCTGCACCTGGAACGGAAC -3'
(R):5'- TTGTGTGACAGGTCCAGCCAAC -3'
Sequencing Primer
(F):5'- CTGGAACGGAACCTGCTC -3'
(R):5'- AACGCAGTGCCTTCATGC -3'
|
Posted On |
2014-01-05 |