Incidental Mutation 'R2284:Cryzl1'
| ID |
243266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cryzl1
|
| Ensembl Gene |
ENSMUSG00000058240 |
| Gene Name |
crystallin zeta like 1 |
| Synonyms |
2210407J23Rik, 2410006O11Rik |
| MMRRC Submission |
040283-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R2284 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91486210-91525690 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 91491193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073466]
[ENSMUST00000114023]
[ENSMUST00000117644]
[ENSMUST00000122254]
[ENSMUST00000124282]
[ENSMUST00000144877]
[ENSMUST00000231499]
[ENSMUST00000159295]
|
| AlphaFold |
Q921W4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073466
|
| SMART Domains |
Protein: ENSMUSP00000073171
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
30 |
142 |
3.7e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114023
|
| SMART Domains |
Protein: ENSMUSP00000109656
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
30 |
140 |
2e-8 |
PFAM |
|
Pfam:ADH_zinc_N
|
156 |
231 |
5.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117644
|
| SMART Domains |
Protein: ENSMUSP00000113227
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
141 |
212 |
1.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122254
|
| SMART Domains |
Protein: ENSMUSP00000112734
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PKS_ER
|
71 |
150 |
1e-9 |
BLAST |
|
SCOP:d1heta1
|
73 |
137 |
4e-12 |
SMART |
|
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124282
|
| SMART Domains |
Protein: ENSMUSP00000115686
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
30 |
150 |
1.7e-8 |
PFAM |
|
Pfam:ADH_zinc_N
|
156 |
227 |
3.9e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144472
|
| SMART Domains |
Protein: ENSMUSP00000116833
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PKS_ER
|
2 |
152 |
8e-13 |
BLAST |
|
PDB:3SLK|B
|
2 |
152 |
3e-10 |
PDB |
|
SCOP:d1heta1
|
24 |
103 |
1e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231499
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159295
|
| SMART Domains |
Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OSCP
|
1 |
89 |
1.1e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
C |
T |
16: 22,976,237 (GRCm39) |
Q213* |
probably null |
Het |
| Adsl |
C |
T |
15: 80,848,096 (GRCm39) |
P278L |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,085,678 (GRCm39) |
S187P |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,444,099 (GRCm39) |
|
probably null |
Het |
| Csl |
T |
A |
10: 99,594,321 (GRCm39) |
D248V |
possibly damaging |
Het |
| Dip2a |
A |
C |
10: 76,149,027 (GRCm39) |
V247G |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,186 (GRCm39) |
D2509G |
probably damaging |
Het |
| Gldn |
G |
A |
9: 54,193,849 (GRCm39) |
W14* |
probably null |
Het |
| Gm5698 |
C |
T |
1: 31,016,964 (GRCm39) |
R29Q |
possibly damaging |
Het |
| Gm5830 |
A |
T |
1: 78,945,415 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird2 |
A |
G |
5: 134,246,025 (GRCm39) |
D761G |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,011,607 (GRCm39) |
Q159R |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,618,648 (GRCm39) |
Y118C |
probably damaging |
Het |
| Iho1 |
C |
T |
9: 108,298,672 (GRCm39) |
E49K |
probably damaging |
Het |
| Klrd1 |
A |
G |
6: 129,575,344 (GRCm39) |
H127R |
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,081 (GRCm39) |
Q95* |
probably null |
Het |
| Map2 |
C |
T |
1: 66,453,227 (GRCm39) |
P548S |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,301,674 (GRCm39) |
V1120A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,245,097 (GRCm39) |
M204K |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,837 (GRCm39) |
T2279A |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,047,110 (GRCm39) |
S1084P |
probably benign |
Het |
| Nr2f1 |
C |
A |
13: 78,343,581 (GRCm39) |
V81F |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,477,135 (GRCm39) |
N803K |
probably damaging |
Het |
| Or5l14 |
A |
G |
2: 87,793,137 (GRCm39) |
L33P |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,271,510 (GRCm39) |
H375R |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,555,109 (GRCm39) |
V200I |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,681 (GRCm39) |
I296T |
probably benign |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,600 (GRCm39) |
H288L |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,765 (GRCm39) |
N88K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,666 (GRCm39) |
T511A |
probably benign |
Het |
|
| Other mutations in Cryzl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02139:Cryzl1
|
APN |
16 |
91,509,139 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02937:Cryzl1
|
APN |
16 |
91,487,619 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0360:Cryzl1
|
UTSW |
16 |
91,504,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0364:Cryzl1
|
UTSW |
16 |
91,504,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0513:Cryzl1
|
UTSW |
16 |
91,496,175 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0630:Cryzl1
|
UTSW |
16 |
91,504,107 (GRCm39) |
splice site |
probably benign |
|
|
R1355:Cryzl1
|
UTSW |
16 |
91,489,546 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1370:Cryzl1
|
UTSW |
16 |
91,489,546 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1709:Cryzl1
|
UTSW |
16 |
91,509,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5321:Cryzl1
|
UTSW |
16 |
91,504,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5768:Cryzl1
|
UTSW |
16 |
91,492,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Cryzl1
|
UTSW |
16 |
91,489,413 (GRCm39) |
splice site |
probably null |
|
|
R7372:Cryzl1
|
UTSW |
16 |
91,509,085 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8319:Cryzl1
|
UTSW |
16 |
91,489,251 (GRCm39) |
missense |
probably benign |
|
|
R8481:Cryzl1
|
UTSW |
16 |
91,504,161 (GRCm39) |
nonsense |
probably null |
|
|
R8830:Cryzl1
|
UTSW |
16 |
91,509,092 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8886:Cryzl1
|
UTSW |
16 |
91,492,188 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9684:Cryzl1
|
UTSW |
16 |
91,487,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTGCTCTTTGCTAATGGC -3'
(R):5'- TATCATGAGACATACCTTGCTTGC -3'
Sequencing Primer
(F):5'- AATGGCATTCCCTTGGTGTAATAGC -3'
(R):5'- GCCTTTTCCAAAGAAAAGTG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation