Incidental Mutation 'G5030:Cryl1'
| ID |
491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cryl1
|
| Ensembl Gene |
ENSMUSG00000021947 |
| Gene Name |
crystallin, lambda 1 |
| Synonyms |
1110025H08Rik, A230106J09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
G5030 (G3)
of strain
560
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57512491-57635940 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 57579595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022517]
|
| AlphaFold |
Q99KP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022517
|
| SMART Domains |
Protein: ENSMUSP00000022517
Gene: ENSMUSG00000021947
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:3HCDH_N
|
8 |
190 |
3.4e-53 |
PFAM |
|
Pfam:3HCDH
|
192 |
282 |
8.9e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225765
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
35.6% |
| Validation Efficiency |
87% (206/237) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3) |
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,961,165 (GRCm39) |
I585F |
probably damaging |
Het |
| Adam18 |
C |
G |
8: 25,141,872 (GRCm39) |
L232F |
probably benign |
Homo |
| Atp13a4 |
A |
G |
16: 29,274,306 (GRCm39) |
I385T |
probably damaging |
Homo |
| Ccdc17 |
T |
A |
4: 116,455,699 (GRCm39) |
S277T |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,629 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,000,847 (GRCm39) |
D99G |
probably benign |
Het |
| Clec16a |
G |
A |
16: 10,389,425 (GRCm39) |
R187Q |
probably damaging |
Homo |
| Cryzl2 |
C |
T |
1: 157,292,580 (GRCm39) |
Q48* |
probably null |
Het |
| Dtx4 |
A |
G |
19: 12,446,943 (GRCm39) |
L583P |
probably benign |
Het |
| Ephx4 |
A |
T |
5: 107,577,693 (GRCm39) |
D339V |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,601 (GRCm39) |
V300E |
possibly damaging |
Het |
| F3 |
T |
A |
3: 121,518,648 (GRCm39) |
N37K |
probably damaging |
Homo |
| Fpr1 |
A |
T |
17: 18,097,068 (GRCm39) |
L307H |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,618 (GRCm39) |
N61K |
possibly damaging |
Het |
| Gm5548 |
T |
C |
3: 112,961,512 (GRCm39) |
|
noncoding transcript |
Homo |
| Il1r1 |
A |
G |
1: 40,352,323 (GRCm39) |
K498E |
possibly damaging |
Homo |
| Myh11 |
T |
C |
16: 14,068,443 (GRCm39) |
I192M |
probably damaging |
Homo |
| Nckap5 |
T |
C |
1: 125,953,591 (GRCm39) |
K923R |
probably damaging |
Het |
| Nmbr |
A |
T |
10: 14,642,747 (GRCm39) |
Y102F |
possibly damaging |
Het |
| Or6c75 |
A |
G |
10: 129,337,406 (GRCm39) |
T218A |
probably benign |
Homo |
| Pde1a |
C |
T |
2: 79,718,180 (GRCm39) |
|
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,026,382 (GRCm39) |
|
probably benign |
Het |
| Rtn2 |
T |
C |
7: 19,027,099 (GRCm39) |
S305P |
probably damaging |
Homo |
| Saal1 |
G |
A |
7: 46,342,207 (GRCm39) |
T412I |
probably damaging |
Homo |
| Slc46a2 |
A |
T |
4: 59,913,867 (GRCm39) |
I352N |
probably damaging |
Het |
| Trim37 |
A |
T |
11: 87,033,967 (GRCm39) |
H99L |
probably damaging |
Het |
| Tubgcp4 |
C |
T |
2: 121,014,815 (GRCm39) |
R242C |
probably damaging |
Het |
| Twf2 |
C |
A |
9: 106,084,141 (GRCm39) |
L27I |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,941 (GRCm39) |
H307Q |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,678,091 (GRCm39) |
V3047G |
possibly damaging |
Het |
|
| Other mutations in Cryl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Cryl1
|
APN |
14 |
57,523,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02117:Cryl1
|
APN |
14 |
57,523,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Cryl1
|
APN |
14 |
57,513,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02749:Cryl1
|
APN |
14 |
57,541,181 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03108:Cryl1
|
APN |
14 |
57,550,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Cryl1
|
UTSW |
14 |
57,541,232 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2087:Cryl1
|
UTSW |
14 |
57,513,402 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2155:Cryl1
|
UTSW |
14 |
57,635,880 (GRCm39) |
missense |
unknown |
|
|
R2263:Cryl1
|
UTSW |
14 |
57,523,865 (GRCm39) |
nonsense |
probably null |
|
|
R2913:Cryl1
|
UTSW |
14 |
57,513,375 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2914:Cryl1
|
UTSW |
14 |
57,513,375 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4747:Cryl1
|
UTSW |
14 |
57,550,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5482:Cryl1
|
UTSW |
14 |
57,550,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5977:Cryl1
|
UTSW |
14 |
57,620,236 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6792:Cryl1
|
UTSW |
14 |
57,620,224 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7134:Cryl1
|
UTSW |
14 |
57,512,956 (GRCm39) |
missense |
probably benign |
|
|
R7409:Cryl1
|
UTSW |
14 |
57,523,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Cryl1
|
UTSW |
14 |
57,513,428 (GRCm39) |
missense |
probably benign |
|
|
R7653:Cryl1
|
UTSW |
14 |
57,541,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7711:Cryl1
|
UTSW |
14 |
57,513,013 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7785:Cryl1
|
UTSW |
14 |
57,512,938 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a G to A transition at position 412 of the Cryl1 transcript using Ensembl record ENSMUST00000089502 in exon 3 of 4 total exons. Two transcripts of the Cryl1gene are displayed on Ensembl. The cDNA of this Ensembl record only partially matches the Genbank record and the altered base pair is located only in the Ensembl record. The mutated nucleotide causes a valine to isoleucine substitution at amino acid 113 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Cryl1 gene encodes a 319 amino acid protein that belongs to the 3-hydroxyacyl-CoA dehydrogenase family. The protein is widely expressed with highest levels in the liver, but is undetectable in skeletal muscle (Uniprot Q99KP3).
The protein encoded by the Ensembl record only partially matches the protein sequence on Uniprot. The V113I change occurs outside this region and may be translated from an intron. It is predicted to be benign by the PolyPhen program.
|
| Posted On |
2010-10-26 |
Incidental Mutation