Incidental Mutation 'IGL02596:Cryzl2'
ID |
299874 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cryzl2
|
Ensembl Gene |
ENSMUSG00000033488 |
Gene Name |
crystallin zeta like 2 |
Synonyms |
quinone reductase-like 2, BC026585 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02596
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
157286147-157320208 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 157292539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 107
(D107V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113664
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046743]
[ENSMUST00000119891]
[ENSMUST00000193791]
|
AlphaFold |
Q3UNZ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046743
AA Change: D107V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044945 Gene: ENSMUSG00000033488 AA Change: D107V
Domain | Start | End | E-Value | Type |
Pfam:ADH_N
|
51 |
174 |
4.1e-14 |
PFAM |
Pfam:ADH_zinc_N
|
175 |
309 |
2.5e-23 |
PFAM |
Pfam:ADH_zinc_N_2
|
208 |
347 |
2.8e-16 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119891
AA Change: D107V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113664 Gene: ENSMUSG00000033488 AA Change: D107V
Domain | Start | End | E-Value | Type |
Pfam:ADH_N
|
51 |
159 |
1.1e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193791
AA Change: D107V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141717 Gene: ENSMUSG00000033488 AA Change: D107V
Domain | Start | End | E-Value | Type |
Pfam:ADH_N
|
51 |
159 |
1.9e-15 |
PFAM |
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000195702
AA Change: D34V
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
T |
G |
4: 73,868,904 (GRCm39) |
Q11H |
possibly damaging |
Het |
Armcx5 |
T |
A |
X: 134,647,268 (GRCm39) |
I448K |
probably damaging |
Het |
Atp4b |
T |
A |
8: 13,443,471 (GRCm39) |
Y69F |
possibly damaging |
Het |
Ccdc7b |
T |
A |
8: 129,798,959 (GRCm39) |
V12E |
probably benign |
Het |
Cdc5l |
C |
A |
17: 45,735,530 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
C |
T |
13: 73,761,785 (GRCm39) |
R330C |
probably benign |
Het |
Cpq |
C |
T |
15: 33,213,160 (GRCm39) |
R60W |
probably damaging |
Het |
Cpvl |
T |
C |
6: 53,908,995 (GRCm39) |
Y256C |
probably damaging |
Het |
Cyp2e1 |
G |
A |
7: 140,350,031 (GRCm39) |
V239M |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,103,659 (GRCm39) |
D292V |
possibly damaging |
Het |
Dcaf1 |
A |
G |
9: 106,740,220 (GRCm39) |
Y1202C |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,538,137 (GRCm39) |
N3616S |
probably benign |
Het |
Enam |
A |
G |
5: 88,650,885 (GRCm39) |
D723G |
probably benign |
Het |
Eps8l1 |
G |
A |
7: 4,473,871 (GRCm39) |
R226H |
probably damaging |
Het |
Erich2 |
A |
G |
2: 70,343,147 (GRCm39) |
|
probably benign |
Het |
Esyt3 |
A |
C |
9: 99,210,068 (GRCm39) |
L271V |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,881,052 (GRCm39) |
N838S |
probably benign |
Het |
Gad1 |
T |
C |
2: 70,425,028 (GRCm39) |
Y441H |
probably damaging |
Het |
Gja1 |
G |
T |
10: 56,264,348 (GRCm39) |
V236F |
possibly damaging |
Het |
Gpr156 |
T |
C |
16: 37,799,086 (GRCm39) |
I100T |
probably benign |
Het |
Hace1 |
A |
G |
10: 45,576,736 (GRCm39) |
T803A |
possibly damaging |
Het |
Jagn1 |
G |
A |
6: 113,424,562 (GRCm39) |
V145I |
probably benign |
Het |
Kdm4b |
C |
A |
17: 56,706,706 (GRCm39) |
T899K |
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,602,187 (GRCm39) |
V40M |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mast1 |
G |
T |
8: 85,644,400 (GRCm39) |
A843E |
probably benign |
Het |
Mbd1 |
T |
A |
18: 74,409,868 (GRCm39) |
|
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,051,379 (GRCm39) |
|
probably benign |
Het |
Mlh3 |
A |
G |
12: 85,287,732 (GRCm39) |
|
probably null |
Het |
Or10ag53 |
C |
A |
2: 87,082,473 (GRCm39) |
T64K |
probably damaging |
Het |
Or5b109 |
A |
T |
19: 13,211,763 (GRCm39) |
I50F |
probably damaging |
Het |
Pwp1 |
A |
G |
10: 85,707,882 (GRCm39) |
|
probably null |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Slc12a7 |
T |
A |
13: 73,933,242 (GRCm39) |
V100E |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,723,083 (GRCm39) |
H699L |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tgfb1i1 |
T |
A |
7: 127,848,068 (GRCm39) |
M1K |
probably null |
Het |
Tubgcp6 |
T |
A |
15: 88,985,117 (GRCm39) |
E1657V |
probably damaging |
Het |
Zfp770 |
A |
G |
2: 114,026,308 (GRCm39) |
V587A |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,350,691 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cryzl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00808:Cryzl2
|
APN |
1 |
157,298,246 (GRCm39) |
missense |
probably benign |
|
IGL01481:Cryzl2
|
APN |
1 |
157,298,309 (GRCm39) |
splice site |
probably null |
|
IGL01878:Cryzl2
|
APN |
1 |
157,299,970 (GRCm39) |
missense |
possibly damaging |
0.70 |
G5030:Cryzl2
|
UTSW |
1 |
157,292,580 (GRCm39) |
nonsense |
probably null |
|
R0399:Cryzl2
|
UTSW |
1 |
157,289,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R0402:Cryzl2
|
UTSW |
1 |
157,292,014 (GRCm39) |
missense |
probably benign |
0.00 |
R0518:Cryzl2
|
UTSW |
1 |
157,292,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R0761:Cryzl2
|
UTSW |
1 |
157,293,294 (GRCm39) |
missense |
probably benign |
0.15 |
R1104:Cryzl2
|
UTSW |
1 |
157,298,174 (GRCm39) |
splice site |
probably benign |
|
R1471:Cryzl2
|
UTSW |
1 |
157,298,291 (GRCm39) |
missense |
probably benign |
0.01 |
R1773:Cryzl2
|
UTSW |
1 |
157,298,292 (GRCm39) |
missense |
probably benign |
0.01 |
R4752:Cryzl2
|
UTSW |
1 |
157,286,219 (GRCm39) |
splice site |
probably null |
|
R5046:Cryzl2
|
UTSW |
1 |
157,292,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R5389:Cryzl2
|
UTSW |
1 |
157,289,546 (GRCm39) |
nonsense |
probably null |
|
R5778:Cryzl2
|
UTSW |
1 |
157,298,357 (GRCm39) |
missense |
probably benign |
0.00 |
R6928:Cryzl2
|
UTSW |
1 |
157,298,357 (GRCm39) |
missense |
probably benign |
0.00 |
R7037:Cryzl2
|
UTSW |
1 |
157,298,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R7099:Cryzl2
|
UTSW |
1 |
157,316,154 (GRCm39) |
critical splice donor site |
probably benign |
|
R7911:Cryzl2
|
UTSW |
1 |
157,299,925 (GRCm39) |
missense |
probably benign |
|
R8854:Cryzl2
|
UTSW |
1 |
157,286,370 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9618:Cryzl2
|
UTSW |
1 |
157,289,578 (GRCm39) |
missense |
probably benign |
0.00 |
R9667:Cryzl2
|
UTSW |
1 |
157,316,038 (GRCm39) |
missense |
probably benign |
|
Z1088:Cryzl2
|
UTSW |
1 |
157,293,359 (GRCm39) |
missense |
probably benign |
0.22 |
|
Posted On |
2015-04-16 |