Incidental Mutation 'R5768:Cryzl1'
| ID |
446405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cryzl1
|
| Ensembl Gene |
ENSMUSG00000058240 |
| Gene Name |
crystallin zeta like 1 |
| Synonyms |
2210407J23Rik, 2410006O11Rik |
| MMRRC Submission |
043368-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R5768 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91486210-91525690 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91492242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 195
(V195M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073466]
[ENSMUST00000114023]
[ENSMUST00000117644]
[ENSMUST00000122254]
[ENSMUST00000124282]
[ENSMUST00000144877]
[ENSMUST00000159295]
[ENSMUST00000231499]
|
| AlphaFold |
Q921W4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073466
AA Change: V195M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073171
Gene: ENSMUSG00000058240
AA Change: V195M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
30 |
142 |
3.7e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114023
AA Change: V195M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109656
Gene: ENSMUSG00000058240
AA Change: V195M
| 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 damaging
Transcript: ENSMUST00000117644
AA Change: V180M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113227
Gene: ENSMUSG00000058240
AA Change: V180M
| 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 damaging
Transcript: ENSMUST00000124282
AA Change: V195M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115686
Gene: ENSMUSG00000058240
AA Change: V195M
| 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 |
unknown
Transcript: ENSMUST00000144472
AA Change: V122M
|
| SMART Domains |
Protein: ENSMUSP00000116833
Gene: ENSMUSG00000058240
AA Change: V122M
| 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 damaging
Transcript: ENSMUST00000144877
AA Change: V40M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156242
|
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231499
AA Change: V169M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232491
|
| Meta Mutation Damage Score |
0.3631 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (59/60) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,177,426 (GRCm39) |
T561I |
probably benign |
Het |
| Akp3 |
T |
C |
1: 87,054,844 (GRCm39) |
I393T |
probably damaging |
Het |
| Atxn10 |
A |
T |
15: 85,277,621 (GRCm39) |
I363F |
probably benign |
Het |
| BC004004 |
A |
T |
17: 29,501,709 (GRCm39) |
S83C |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,559,264 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
A |
G |
6: 118,674,641 (GRCm39) |
I541T |
probably damaging |
Het |
| Cand1 |
A |
G |
10: 119,046,910 (GRCm39) |
V860A |
probably benign |
Het |
| Ccdc69 |
T |
C |
11: 54,945,856 (GRCm39) |
N50S |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,921,968 (GRCm39) |
T235S |
probably benign |
Het |
| Cdhr3 |
G |
T |
12: 33,096,685 (GRCm39) |
T591K |
possibly damaging |
Het |
| Cherp |
C |
T |
8: 73,216,957 (GRCm39) |
D658N |
probably damaging |
Het |
| Clip4 |
T |
A |
17: 72,113,494 (GRCm39) |
|
probably null |
Het |
| Cst11 |
A |
T |
2: 148,612,387 (GRCm39) |
Y83* |
probably null |
Het |
| Ddb2 |
T |
C |
2: 91,042,337 (GRCm39) |
S419G |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,412,901 (GRCm39) |
L4M |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,055,826 (GRCm39) |
P393T |
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,935,660 (GRCm39) |
|
probably null |
Het |
| Elf5 |
C |
T |
2: 103,279,367 (GRCm39) |
S196L |
probably damaging |
Het |
| Eps15 |
C |
G |
4: 109,220,373 (GRCm39) |
|
probably null |
Het |
| Fra10ac1 |
T |
C |
19: 38,195,734 (GRCm39) |
E163G |
probably benign |
Het |
| Gc |
T |
C |
5: 89,589,125 (GRCm39) |
T213A |
probably damaging |
Het |
| Grpel1 |
A |
T |
5: 36,622,503 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
G |
A |
6: 50,196,280 (GRCm39) |
Q377* |
probably null |
Het |
| Hira |
T |
C |
16: 18,753,768 (GRCm39) |
|
probably benign |
Het |
| Hsd11b1 |
T |
A |
1: 192,922,554 (GRCm39) |
I168F |
probably damaging |
Het |
| Htr6 |
G |
A |
4: 138,789,015 (GRCm39) |
R347W |
probably damaging |
Het |
| Ipp |
A |
C |
4: 116,367,967 (GRCm39) |
T67P |
probably damaging |
Het |
| Lrfn5 |
G |
A |
12: 61,886,509 (GRCm39) |
R99Q |
probably benign |
Het |
| Madd |
T |
A |
2: 90,998,174 (GRCm39) |
I649F |
probably damaging |
Het |
| Map2k7 |
T |
A |
8: 4,295,757 (GRCm39) |
D368E |
probably benign |
Het |
| Mppe1 |
T |
G |
18: 67,358,889 (GRCm39) |
T360P |
possibly damaging |
Het |
| Msi2 |
A |
G |
11: 88,608,564 (GRCm39) |
F2L |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,279,180 (GRCm39) |
Q266R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,532,883 (GRCm39) |
H691R |
probably benign |
Het |
| Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
| Or4c117 |
T |
C |
2: 88,955,793 (GRCm39) |
E94G |
probably benign |
Het |
| Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
| Papss2 |
G |
A |
19: 32,638,119 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,172,736 (GRCm39) |
K549E |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,208,116 (GRCm39) |
T596A |
probably benign |
Het |
| Polr2f |
A |
G |
15: 79,035,845 (GRCm39) |
D117G |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,301,178 (GRCm39) |
E381G |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,602,976 (GRCm39) |
R831H |
probably damaging |
Het |
| Rpp25l |
A |
T |
4: 41,712,649 (GRCm39) |
L42Q |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,442 (GRCm39) |
M2810V |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,129,626 (GRCm39) |
L1616I |
probably benign |
Het |
| Spock2 |
T |
A |
10: 59,962,029 (GRCm39) |
F215I |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,353,488 (GRCm39) |
E976V |
unknown |
Het |
| Tgfbr3 |
T |
C |
5: 107,297,761 (GRCm39) |
E213G |
probably benign |
Het |
| Tmed1 |
T |
C |
9: 21,420,619 (GRCm39) |
D71G |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,170,565 (GRCm39) |
K527N |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,311,822 (GRCm39) |
T291A |
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 |
|
R2284:Cryzl1
|
UTSW |
16 |
91,491,193 (GRCm39) |
unclassified |
probably benign |
|
|
R5321:Cryzl1
|
UTSW |
16 |
91,504,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CAGCGTTGAGGATGGGAATC -3'
(R):5'- GCCAACCCAGATTGAATTCC -3'
Sequencing Primer
(F):5'- AACATCCAACTTTATGAGTGCAG -3'
(R):5'- CCCCAATCTGTTTGTGTTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation