Incidental Mutation 'R5595:Cryz'
| ID |
437760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cryz
|
| Ensembl Gene |
ENSMUSG00000028199 |
| Gene Name |
crystallin, zeta |
| Synonyms |
SEZ9, Sez9, quinone reductase |
| MMRRC Submission |
043147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R5595 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
154302348-154328819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154312155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 84
(V84E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029850]
[ENSMUST00000135723]
[ENSMUST00000140644]
[ENSMUST00000144764]
[ENSMUST00000155232]
[ENSMUST00000155385]
[ENSMUST00000184537]
[ENSMUST00000192462]
[ENSMUST00000194876]
|
| AlphaFold |
P47199 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029850
AA Change: V84E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199
AA Change: V84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
131 |
3.3e-14 |
PFAM |
|
Pfam:ADH_zinc_N
|
160 |
290 |
1.3e-30 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
192 |
329 |
1.7e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135723
|
| SMART Domains |
Protein: ENSMUSP00000143311
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1YB5|B
|
1 |
38 |
5e-17 |
PDB |
|
SCOP:d1qora1
|
9 |
38 |
9e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140644
AA Change: V84E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115146
Gene: ENSMUSG00000028199
AA Change: V84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
98 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144764
AA Change: V84E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199
AA Change: V84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
132 |
2.6e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155232
AA Change: V84E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199
AA Change: V84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
135 |
3.5e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155385
AA Change: V84E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122619
Gene: ENSMUSG00000028199
AA Change: V84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
130 |
2.1e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184537
AA Change: V84E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199
AA Change: V84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
180 |
4.7e-17 |
PFAM |
|
Pfam:ADH_zinc_N
|
160 |
218 |
5.4e-13 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195103
AA Change: V24E
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192462
AA Change: V84E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199
AA Change: V84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
131 |
2.8e-16 |
PFAM |
|
Pfam:ADH_zinc_N
|
160 |
290 |
1.8e-29 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
192 |
329 |
4.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194876
AA Change: V84E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199
AA Change: V84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
139 |
2.2e-14 |
PFAM |
|
Pfam:ADH_zinc_N
|
160 |
290 |
1.4e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,682,143 (GRCm39) |
F991S |
probably benign |
Het |
| 4931406B18Rik |
A |
G |
7: 43,147,296 (GRCm39) |
I218T |
possibly damaging |
Het |
| 9930111J21Rik2 |
C |
T |
11: 48,910,538 (GRCm39) |
A632T |
possibly damaging |
Het |
| Akt1 |
A |
T |
12: 112,625,050 (GRCm39) |
L166Q |
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,399,319 (GRCm39) |
D2086E |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,043 (GRCm39) |
C915* |
probably null |
Het |
| Ankrd44 |
T |
C |
1: 54,801,506 (GRCm39) |
T274A |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,774,209 (GRCm39) |
I398K |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,550,283 (GRCm39) |
T663A |
probably benign |
Het |
| Btbd16 |
G |
A |
7: 130,425,033 (GRCm39) |
M471I |
possibly damaging |
Het |
| Btbd16 |
C |
A |
7: 130,425,034 (GRCm39) |
Q472K |
probably damaging |
Het |
| Cdc37 |
G |
A |
9: 21,054,509 (GRCm39) |
R39C |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,453,596 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cop1 |
T |
A |
1: 159,077,643 (GRCm39) |
D159E |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,402,390 (GRCm39) |
V73I |
probably benign |
Het |
| Ctnnd2 |
C |
T |
15: 30,669,689 (GRCm39) |
L433F |
probably benign |
Het |
| Ctsq |
C |
A |
13: 61,184,874 (GRCm39) |
D271Y |
probably benign |
Het |
| Cyp3a25 |
A |
C |
5: 145,931,673 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
C |
7: 130,655,797 (GRCm39) |
W412C |
probably benign |
Het |
| Eif4e1b |
G |
A |
13: 54,934,529 (GRCm39) |
V131I |
possibly damaging |
Het |
| Epha1 |
A |
G |
6: 42,341,568 (GRCm39) |
V494A |
possibly damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,433,641 (GRCm39) |
S593P |
probably damaging |
Het |
| Fbxo41 |
G |
A |
6: 85,456,883 (GRCm39) |
P429S |
probably benign |
Het |
| Fem1al |
T |
C |
11: 29,774,288 (GRCm39) |
N390D |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,887,347 (GRCm39) |
C204Y |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,272,861 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Htt |
T |
A |
5: 35,062,741 (GRCm39) |
V2825E |
probably damaging |
Het |
| Irs1 |
A |
T |
1: 82,267,646 (GRCm39) |
V190E |
probably damaging |
Het |
| Kics2 |
T |
C |
10: 121,576,052 (GRCm39) |
|
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,878,161 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,747,905 (GRCm39) |
|
probably benign |
Het |
| Meox1 |
T |
C |
11: 101,770,169 (GRCm39) |
E186G |
probably damaging |
Het |
| Micu2 |
G |
A |
14: 58,209,201 (GRCm39) |
R86W |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,432 (GRCm39) |
I160K |
probably damaging |
Het |
| Nckap1l |
T |
A |
15: 103,384,085 (GRCm39) |
M561K |
possibly damaging |
Het |
| Or4c104 |
A |
T |
2: 88,586,749 (GRCm39) |
I90N |
probably damaging |
Het |
| Or52s6 |
A |
T |
7: 103,091,635 (GRCm39) |
S232T |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,213 (GRCm39) |
M1L |
probably benign |
Het |
| Otoa |
T |
A |
7: 120,721,200 (GRCm39) |
L405H |
probably damaging |
Het |
| Phyhip |
A |
T |
14: 70,704,314 (GRCm39) |
M178L |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,382,152 (GRCm39) |
N1630I |
probably damaging |
Het |
| Plek2 |
T |
A |
12: 78,940,883 (GRCm39) |
T247S |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,228,409 (GRCm39) |
V293A |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,992,810 (GRCm39) |
F193Y |
probably damaging |
Het |
| Scn3a |
C |
T |
2: 65,291,057 (GRCm39) |
M1896I |
probably benign |
Het |
| Snrnp200 |
T |
C |
2: 127,067,933 (GRCm39) |
V810A |
probably damaging |
Het |
| Taar4 |
G |
A |
10: 23,836,639 (GRCm39) |
S83N |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tec |
T |
A |
5: 72,926,087 (GRCm39) |
I322F |
possibly damaging |
Het |
| Teddm2 |
T |
C |
1: 153,726,146 (GRCm39) |
I190V |
probably benign |
Het |
| Tmem117 |
A |
G |
15: 94,992,765 (GRCm39) |
E475G |
probably damaging |
Het |
| Trip10 |
T |
A |
17: 57,569,460 (GRCm39) |
Y495N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,638,695 (GRCm39) |
V4035A |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,558,062 (GRCm39) |
V1466M |
possibly damaging |
Het |
| Vasp |
A |
G |
7: 18,991,816 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,953,857 (GRCm39) |
M130L |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,034,036 (GRCm39) |
D495E |
possibly damaging |
Het |
| Zfp213 |
A |
G |
17: 23,780,160 (GRCm39) |
V120A |
possibly damaging |
Het |
|
| Other mutations in Cryz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Cryz
|
APN |
3 |
154,310,579 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00838:Cryz
|
APN |
3 |
154,324,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00969:Cryz
|
APN |
3 |
154,324,163 (GRCm39) |
nonsense |
probably null |
|
|
IGL01571:Cryz
|
APN |
3 |
154,327,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03082:Cryz
|
APN |
3 |
154,310,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Cryz
|
UTSW |
3 |
154,317,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Cryz
|
UTSW |
3 |
154,317,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1116:Cryz
|
UTSW |
3 |
154,327,240 (GRCm39) |
splice site |
probably benign |
|
|
R1470:Cryz
|
UTSW |
3 |
154,312,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Cryz
|
UTSW |
3 |
154,312,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1586:Cryz
|
UTSW |
3 |
154,317,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2018:Cryz
|
UTSW |
3 |
154,327,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2223:Cryz
|
UTSW |
3 |
154,324,191 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2334:Cryz
|
UTSW |
3 |
154,327,828 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4488:Cryz
|
UTSW |
3 |
154,324,094 (GRCm39) |
splice site |
probably benign |
|
|
R5547:Cryz
|
UTSW |
3 |
154,317,194 (GRCm39) |
nonsense |
probably null |
|
|
R5917:Cryz
|
UTSW |
3 |
154,327,403 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7197:Cryz
|
UTSW |
3 |
154,327,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7473:Cryz
|
UTSW |
3 |
154,312,157 (GRCm39) |
missense |
probably benign |
|
|
R8121:Cryz
|
UTSW |
3 |
154,327,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9215:Cryz
|
UTSW |
3 |
154,324,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9222:Cryz
|
UTSW |
3 |
154,317,203 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9651:Cryz
|
UTSW |
3 |
154,327,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cryz
|
UTSW |
3 |
154,327,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACAAACTGACGAGTGTTGTC -3'
(R):5'- AAACATCCTGACTGTGCAGG -3'
Sequencing Primer
(F):5'- GTCATTTCAGGTCCTAATCAAAGTCC -3'
(R):5'- CATCCTGACTGTGCAGGACAAAAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation