Incidental Mutation 'R5880:Cby2'
| ID |
454386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cby2
|
| Ensembl Gene |
ENSMUSG00000034913 |
| Gene Name |
chibby family member 2 |
| Synonyms |
Spert, Nurit, 1700086N05Rik |
| MMRRC Submission |
043235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
75820317-75830556 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75821243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 119
(V119I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035243]
[ENSMUST00000164082]
[ENSMUST00000165569]
[ENSMUST00000169658]
|
| AlphaFold |
Q32MG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035243
AA Change: V161I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000046259
Gene: ENSMUSG00000034913
AA Change: V161I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chibby
|
40 |
176 |
1e-13 |
PFAM |
|
coiled coil region
|
200 |
228 |
N/A |
INTRINSIC |
|
coiled coil region
|
317 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164082
AA Change: V197I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127439
Gene: ENSMUSG00000034913
AA Change: V197I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chibby
|
77 |
200 |
4.9e-15 |
PFAM |
|
coiled coil region
|
236 |
264 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
397 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165569
AA Change: V119I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000131347
Gene: ENSMUSG00000034913
AA Change: V119I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chibby
|
1 |
135 |
2.1e-13 |
PFAM |
|
coiled coil region
|
158 |
186 |
N/A |
INTRINSIC |
|
coiled coil region
|
275 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169658
AA Change: V170I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000129616
Gene: ENSMUSG00000034913
AA Change: V170I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chibby
|
49 |
185 |
2.4e-14 |
PFAM |
|
coiled coil region
|
209 |
237 |
N/A |
INTRINSIC |
|
coiled coil region
|
326 |
370 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 93.4%
- 20x: 74.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
G |
A |
18: 74,937,072 (GRCm39) |
V319M |
probably damaging |
Het |
| Actrt2 |
T |
A |
4: 154,751,747 (GRCm39) |
T130S |
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,340,157 (GRCm39) |
S392P |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,220,713 (GRCm39) |
N1344Y |
probably damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,965,918 (GRCm39) |
H469Q |
possibly damaging |
Het |
| Dhodh |
T |
A |
8: 110,321,409 (GRCm39) |
T326S |
probably benign |
Het |
| Ebf3 |
T |
G |
7: 136,800,367 (GRCm39) |
N529T |
probably benign |
Het |
| Echdc2 |
A |
C |
4: 108,030,097 (GRCm39) |
I133L |
possibly damaging |
Het |
| Fbn2 |
A |
T |
18: 58,156,354 (GRCm39) |
C2488* |
probably null |
Het |
| Fndc3b |
T |
A |
3: 27,483,052 (GRCm39) |
T1049S |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,252 (GRCm39) |
Y643C |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,735,426 (GRCm39) |
*104W |
probably null |
Het |
| Iqgap3 |
T |
A |
3: 88,024,509 (GRCm39) |
S628R |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 41,231,826 (GRCm39) |
V1215M |
probably benign |
Het |
| Mmp20 |
G |
A |
9: 7,655,002 (GRCm39) |
R370Q |
probably benign |
Het |
| Or10al4 |
T |
C |
17: 38,037,545 (GRCm39) |
V219A |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,543 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or4k6 |
A |
G |
14: 50,476,172 (GRCm39) |
S57P |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,299,382 (GRCm39) |
H168L |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,114,894 (GRCm39) |
I319N |
probably damaging |
Het |
| Rgs20 |
A |
T |
1: 4,994,104 (GRCm39) |
C93S |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,016,263 (GRCm39) |
V733A |
possibly damaging |
Het |
| Tet3 |
G |
C |
6: 83,347,532 (GRCm39) |
P1154R |
probably damaging |
Het |
|
| Other mutations in Cby2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Cby2
|
APN |
14 |
75,830,085 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01556:Cby2
|
APN |
14 |
75,821,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02653:Cby2
|
APN |
14 |
75,820,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03366:Cby2
|
APN |
14 |
75,820,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0071:Cby2
|
UTSW |
14 |
75,821,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1645:Cby2
|
UTSW |
14 |
75,821,089 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1738:Cby2
|
UTSW |
14 |
75,830,497 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R1844:Cby2
|
UTSW |
14 |
75,820,850 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4773:Cby2
|
UTSW |
14 |
75,820,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Cby2
|
UTSW |
14 |
75,830,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5201:Cby2
|
UTSW |
14 |
75,821,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5274:Cby2
|
UTSW |
14 |
75,820,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6915:Cby2
|
UTSW |
14 |
75,830,098 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7399:Cby2
|
UTSW |
14 |
75,830,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8054:Cby2
|
UTSW |
14 |
75,821,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8062:Cby2
|
UTSW |
14 |
75,830,046 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8172:Cby2
|
UTSW |
14 |
75,829,241 (GRCm39) |
splice site |
probably null |
|
|
R8998:Cby2
|
UTSW |
14 |
75,820,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Cby2
|
UTSW |
14 |
75,820,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9550:Cby2
|
UTSW |
14 |
75,820,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Cby2
|
UTSW |
14 |
75,820,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCTGCATTCTCTTCTGC -3'
(R):5'- CAGCTCAGCGATGAGATGTTTG -3'
Sequencing Primer
(F):5'- AGTAGGCCTGCCTCTGCTC -3'
(R):5'- TGAATGAGAGCTGCCGCCTAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation