Incidental Mutation 'R2914:Cryl1'
ID |
254816 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cryl1
|
Ensembl Gene |
ENSMUSG00000021947 |
Gene Name |
crystallin, lambda 1 |
Synonyms |
1110025H08Rik, A230106J09Rik |
MMRRC Submission |
040501-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R2914 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
57512491-57635940 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57513375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 282
(E282G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022517]
|
AlphaFold |
Q99KP3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022517
AA Change: E282G
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022517 Gene: ENSMUSG00000021947 AA Change: E282G
Domain | Start | End | E-Value | Type |
Pfam:3HCDH_N
|
8 |
190 |
3.4e-53 |
PFAM |
Pfam:3HCDH
|
192 |
282 |
8.9e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (41/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
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 |
G5030:Cryl1
|
UTSW |
14 |
57,579,595 (GRCm39) |
intron |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCAAAACGAGCTGCTGG -3'
(R):5'- CCCAGGATAGACTCTTCTGCAG -3'
Sequencing Primer
(F):5'- GCTGGTCGCCATCACCTTG -3'
(R):5'- CTTCTGCAGAGGTCTCAGCTG -3'
|
Posted On |
2014-12-29 |