Incidental Mutation 'R5811:Cryba4'
ID |
447513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cryba4
|
Ensembl Gene |
ENSMUSG00000066975 |
Gene Name |
crystallin, beta A4 |
Synonyms |
|
MMRRC Submission |
043213-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R5811 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
112394359-112400384 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 112398937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 36
(V36I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031286]
[ENSMUST00000086629]
[ENSMUST00000112375]
[ENSMUST00000112383]
[ENSMUST00000112385]
[ENSMUST00000131673]
|
AlphaFold |
Q9JJV0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031286
|
SMART Domains |
Protein: ENSMUSP00000031286 Gene: ENSMUSG00000029343
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
47 |
N/A |
INTRINSIC |
XTALbg
|
58 |
140 |
9.71e-40 |
SMART |
XTALbg
|
148 |
230 |
5.8e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086629
AA Change: V36I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083826 Gene: ENSMUSG00000066975 AA Change: V36I
Domain | Start | End | E-Value | Type |
XTALbg
|
13 |
97 |
1.08e-37 |
SMART |
XTALbg
|
106 |
194 |
2.59e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112375
|
SMART Domains |
Protein: ENSMUSP00000107994 Gene: ENSMUSG00000029343
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
47 |
N/A |
INTRINSIC |
XTALbg
|
58 |
140 |
9.71e-40 |
SMART |
XTALbg
|
148 |
230 |
5.8e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112383
AA Change: V23I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108002 Gene: ENSMUSG00000066975 AA Change: V23I
Domain | Start | End | E-Value | Type |
XTALbg
|
1 |
84 |
1.71e-35 |
SMART |
XTALbg
|
93 |
181 |
2.59e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112385
AA Change: V36I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108004 Gene: ENSMUSG00000066975 AA Change: V36I
Domain | Start | End | E-Value | Type |
XTALbg
|
13 |
97 |
1.08e-37 |
SMART |
XTALbg
|
106 |
194 |
2.59e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131673
|
SMART Domains |
Protein: ENSMUSP00000118399 Gene: ENSMUSG00000029343
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
47 |
N/A |
INTRINSIC |
XTALbg
|
58 |
140 |
9.71e-40 |
SMART |
XTALbg
|
148 |
230 |
5.8e-38 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the crystallin family of proteins that contribute to the transparency and refractive properties of the ocular lens. Certain mutations in the human ortholog of this gene are associated with cataract and bilateral microphthalmia. This gene is located adjacent to a related crystallin gene on chromosome 5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btnl1 |
A |
T |
17: 34,604,503 (GRCm39) |
K428M |
probably damaging |
Het |
Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
Clnk |
A |
G |
5: 38,870,490 (GRCm39) |
V356A |
probably damaging |
Het |
Dct |
A |
G |
14: 118,250,600 (GRCm39) |
V466A |
probably benign |
Het |
Dnmt3l |
A |
G |
10: 77,887,929 (GRCm39) |
D146G |
possibly damaging |
Het |
Epas1 |
A |
G |
17: 87,131,203 (GRCm39) |
N328D |
probably damaging |
Het |
Fat4 |
C |
T |
3: 38,945,936 (GRCm39) |
R1610W |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,390,657 (GRCm39) |
V415A |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,896,911 (GRCm39) |
L576P |
probably damaging |
Het |
Gjd3 |
A |
T |
11: 98,873,226 (GRCm39) |
V206E |
possibly damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,641 (GRCm39) |
D375E |
possibly damaging |
Het |
Gsdme |
T |
A |
6: 50,222,925 (GRCm39) |
Q130L |
probably benign |
Het |
Hcls1 |
A |
G |
16: 36,777,702 (GRCm39) |
M274V |
probably null |
Het |
Kcnn4 |
T |
C |
7: 24,077,030 (GRCm39) |
V193A |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,391,505 (GRCm39) |
V31A |
probably damaging |
Het |
Lamc2 |
C |
T |
1: 153,041,999 (GRCm39) |
R45Q |
possibly damaging |
Het |
Lrrc66 |
T |
A |
5: 73,772,860 (GRCm39) |
I203F |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,182,564 (GRCm39) |
D91G |
probably damaging |
Het |
Mcm6 |
A |
T |
1: 128,263,465 (GRCm39) |
|
probably benign |
Het |
Mecom |
C |
T |
3: 30,015,149 (GRCm39) |
S602N |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,352,721 (GRCm39) |
V736A |
possibly damaging |
Het |
Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
Or2h2c |
C |
A |
17: 37,422,649 (GRCm39) |
C75F |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,269,790 (GRCm39) |
M173K |
possibly damaging |
Het |
Pih1d2 |
T |
C |
9: 50,532,374 (GRCm39) |
L144P |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,077,024 (GRCm39) |
E577K |
possibly damaging |
Het |
Samd4b |
T |
C |
7: 28,107,445 (GRCm39) |
S275G |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,822,495 (GRCm39) |
V668A |
probably benign |
Het |
Sema3c |
T |
A |
5: 17,880,188 (GRCm39) |
|
probably null |
Het |
Slc9a8 |
C |
T |
2: 167,313,307 (GRCm39) |
R390* |
probably null |
Het |
Vmn2r89 |
A |
T |
14: 51,693,565 (GRCm39) |
N305I |
probably benign |
Het |
Wdr33 |
T |
C |
18: 32,035,673 (GRCm39) |
F1164L |
unknown |
Het |
Zfp873 |
T |
A |
10: 81,896,567 (GRCm39) |
C470S |
probably damaging |
Het |
|
Other mutations in Cryba4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02088:Cryba4
|
APN |
5 |
112,398,875 (GRCm39) |
unclassified |
probably benign |
|
R0741:Cryba4
|
UTSW |
5 |
112,394,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5622:Cryba4
|
UTSW |
5 |
112,398,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R6644:Cryba4
|
UTSW |
5 |
112,394,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R7008:Cryba4
|
UTSW |
5 |
112,399,648 (GRCm39) |
missense |
probably benign |
|
R7554:Cryba4
|
UTSW |
5 |
112,398,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R7556:Cryba4
|
UTSW |
5 |
112,398,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R7671:Cryba4
|
UTSW |
5 |
112,396,039 (GRCm39) |
critical splice donor site |
probably null |
|
R7888:Cryba4
|
UTSW |
5 |
112,398,918 (GRCm39) |
missense |
probably benign |
0.01 |
R9161:Cryba4
|
UTSW |
5 |
112,396,039 (GRCm39) |
critical splice donor site |
probably null |
|
R9393:Cryba4
|
UTSW |
5 |
112,394,632 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TACAGTGCAAGCCTGGAAAG -3'
(R):5'- AAATTGTGCTGTCCAGGATCCC -3'
Sequencing Primer
(F):5'- GATGTACCTAGGATCATACACAGGC -3'
(R):5'- CCTGGAGGCATGTGACCTCTG -3'
|
Posted On |
2016-12-15 |