Incidental Mutation 'IGL02139:Cryzl1'
| ID |
281463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cryzl1
|
| Ensembl Gene |
ENSMUSG00000058240 |
| Gene Name |
crystallin zeta like 1 |
| Synonyms |
2210407J23Rik, 2410006O11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL02139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
91486210-91525690 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91509139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 54
(K54R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073466]
[ENSMUST00000114023]
[ENSMUST00000117644]
[ENSMUST00000122254]
[ENSMUST00000123751]
[ENSMUST00000124282]
[ENSMUST00000159295]
[ENSMUST00000231499]
|
| AlphaFold |
Q921W4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073466
AA Change: K54R
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073171
Gene: ENSMUSG00000058240
AA Change: K54R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
30 |
142 |
3.7e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114023
AA Change: K54R
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109656
Gene: ENSMUSG00000058240
AA Change: K54R
| 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
AA Change: K54R
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113227
Gene: ENSMUSG00000058240
AA Change: K54R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
141 |
212 |
1.3e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122254
AA Change: K54R
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112734
Gene: ENSMUSG00000058240
AA Change: K54R
| 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: ENSMUST00000123751
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124282
AA Change: K54R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115686
Gene: ENSMUSG00000058240
AA Change: K54R
| 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: ENSMUST00000128975
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141664
AA Change: K70R
|
| 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 |
possibly damaging
Transcript: ENSMUST00000231499
AA Change: K28R
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232491
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
A |
4: 124,504,369 (GRCm39) |
T61M |
unknown |
Het |
| Adam34l |
T |
A |
8: 44,078,615 (GRCm39) |
R536S |
probably benign |
Het |
| Ambn |
T |
C |
5: 88,613,149 (GRCm39) |
F217L |
probably benign |
Het |
| Cast |
T |
C |
13: 74,876,484 (GRCm39) |
D121G |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,747,358 (GRCm39) |
I730V |
probably benign |
Het |
| Cyp3a16 |
A |
G |
5: 145,392,290 (GRCm39) |
S222P |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,020,243 (GRCm39) |
D906G |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,602,081 (GRCm39) |
T428A |
probably benign |
Het |
| Fbxw16 |
T |
G |
9: 109,265,754 (GRCm39) |
D355A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,047,291 (GRCm39) |
|
probably null |
Het |
| Ftsj3 |
G |
A |
11: 106,145,489 (GRCm39) |
P82S |
possibly damaging |
Het |
| Grwd1 |
A |
T |
7: 45,476,667 (GRCm39) |
H307Q |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,134,307 (GRCm39) |
F289S |
probably damaging |
Het |
| Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,646 (GRCm39) |
F100S |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,882,871 (GRCm39) |
F572S |
probably benign |
Het |
| Mrps17 |
T |
A |
5: 129,793,860 (GRCm39) |
I18N |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,687,275 (GRCm39) |
V127I |
probably benign |
Het |
| Or2l13b |
T |
C |
16: 19,349,640 (GRCm39) |
D10G |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,773 (GRCm39) |
V217A |
possibly damaging |
Het |
| Or5g23 |
T |
A |
2: 85,438,574 (GRCm39) |
K227* |
probably null |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,299 (GRCm39) |
D476G |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,545,768 (GRCm39) |
Y56* |
probably null |
Het |
| Pld1 |
C |
A |
3: 28,174,961 (GRCm39) |
D86E |
probably damaging |
Het |
| Plpp1 |
A |
G |
13: 112,993,433 (GRCm39) |
T122A |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,779,883 (GRCm39) |
I484T |
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,896,066 (GRCm39) |
I104F |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,984,876 (GRCm39) |
S1540P |
probably damaging |
Het |
| Pyroxd1 |
T |
G |
6: 142,300,457 (GRCm39) |
S196A |
probably benign |
Het |
| Rbm42 |
G |
A |
7: 30,345,130 (GRCm39) |
P185S |
unknown |
Het |
| Ror2 |
T |
A |
13: 53,265,200 (GRCm39) |
I619F |
probably damaging |
Het |
| Slitrk4 |
T |
G |
X: 63,314,555 (GRCm39) |
E704A |
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,772,430 (GRCm39) |
V626A |
probably benign |
Het |
| Trmt44 |
T |
A |
5: 35,726,143 (GRCm39) |
K345* |
probably null |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,527 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,970,897 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
G |
T |
4: 63,051,773 (GRCm39) |
K758N |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,261,534 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cryzl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation