Incidental Mutation 'BB005:Cntrob'
| ID |
642318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrob
|
| Ensembl Gene |
ENSMUSG00000032782 |
| Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
| Synonyms |
Nip2, 9830165K03Rik, Lip8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
BB005
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69191121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 831
(L831P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092973]
[ENSMUST00000123176]
[ENSMUST00000130780]
|
| AlphaFold |
Q8CB62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092973
AA Change: L831P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: L831P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
191 |
218 |
N/A |
INTRINSIC |
|
coiled coil region
|
249 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123176
|
| Predicted Effect |
silent
Transcript: ENSMUST00000130780
|
| SMART Domains |
Protein: ENSMUSP00000134842
Gene: ENSMUSG00000032782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
64 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176938
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
A |
15: 74,410,170 (GRCm39) |
W270R |
probably damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| App |
A |
T |
16: 84,775,134 (GRCm39) |
V501D |
probably benign |
Het |
| Cnot6l |
A |
G |
5: 96,278,927 (GRCm39) |
V97A |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,639,620 (GRCm39) |
S53P |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,321,661 (GRCm39) |
D3833G |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,838,302 (GRCm39) |
L1081P |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,889,335 (GRCm39) |
N185D |
|
Het |
| Dsn1 |
T |
C |
2: 156,847,932 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,359 (GRCm39) |
T1444A |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,094,459 (GRCm39) |
L1130P |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,898 (GRCm39) |
D1118G |
unknown |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gm11596 |
A |
G |
11: 99,683,622 (GRCm39) |
V166A |
unknown |
Het |
| Gm2696 |
A |
T |
10: 77,650,723 (GRCm39) |
T70S |
unknown |
Het |
| Gm5773 |
A |
G |
3: 93,680,997 (GRCm39) |
E223G |
probably damaging |
Het |
| Madd |
T |
A |
2: 91,007,233 (GRCm39) |
D293V |
probably damaging |
Het |
| Odam |
A |
G |
5: 88,035,269 (GRCm39) |
T78A |
possibly damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,390,397 (GRCm39) |
I17F |
probably damaging |
Het |
| Rassf3 |
A |
G |
10: 121,252,984 (GRCm39) |
|
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,159,898 (GRCm39) |
Y826C |
possibly damaging |
Het |
| Rnf13 |
C |
A |
3: 57,671,729 (GRCm39) |
Q14K |
probably benign |
Het |
| Sec13 |
A |
G |
6: 113,706,601 (GRCm39) |
S271P |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,079,620 (GRCm39) |
L638P |
probably damaging |
Het |
| Sgsh |
T |
G |
11: 119,238,561 (GRCm39) |
H301P |
probably benign |
Het |
| Shh |
T |
C |
5: 28,666,404 (GRCm39) |
M161V |
possibly damaging |
Het |
| Stil |
C |
T |
4: 114,887,198 (GRCm39) |
H764Y |
probably damaging |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,705 (GRCm39) |
T162I |
probably benign |
Het |
| Zfp950 |
G |
T |
19: 61,107,938 (GRCm39) |
P382T |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,712,722 (GRCm39) |
M214T |
probably damaging |
Het |
|
| Other mutations in Cntrob |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02975:Cntrob
|
APN |
11 |
69,210,199 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03173:Cntrob
|
APN |
11 |
69,200,853 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
groats
|
UTSW |
11 |
69,200,317 (GRCm39) |
nonsense |
probably null |
|
|
BB015:Cntrob
|
UTSW |
11 |
69,191,121 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0270:Cntrob
|
UTSW |
11 |
69,202,167 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0501:Cntrob
|
UTSW |
11 |
69,213,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1749:Cntrob
|
UTSW |
11 |
69,213,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1775:Cntrob
|
UTSW |
11 |
69,211,693 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1900:Cntrob
|
UTSW |
11 |
69,198,880 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1967:Cntrob
|
UTSW |
11 |
69,211,789 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2495:Cntrob
|
UTSW |
11 |
69,213,749 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3121:Cntrob
|
UTSW |
11 |
69,213,526 (GRCm39) |
nonsense |
probably null |
|
|
R3780:Cntrob
|
UTSW |
11 |
69,193,708 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4449:Cntrob
|
UTSW |
11 |
69,196,375 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4696:Cntrob
|
UTSW |
11 |
69,211,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Cntrob
|
UTSW |
11 |
69,206,220 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4842:Cntrob
|
UTSW |
11 |
69,206,220 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4908:Cntrob
|
UTSW |
11 |
69,211,732 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4982:Cntrob
|
UTSW |
11 |
69,202,188 (GRCm39) |
splice site |
probably null |
|
|
R5168:Cntrob
|
UTSW |
11 |
69,190,816 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5187:Cntrob
|
UTSW |
11 |
69,212,717 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5307:Cntrob
|
UTSW |
11 |
69,205,576 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5473:Cntrob
|
UTSW |
11 |
69,213,579 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5903:Cntrob
|
UTSW |
11 |
69,200,201 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6643:Cntrob
|
UTSW |
11 |
69,202,248 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6742:Cntrob
|
UTSW |
11 |
69,213,749 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6964:Cntrob
|
UTSW |
11 |
69,200,317 (GRCm39) |
nonsense |
probably null |
|
|
R7020:Cntrob
|
UTSW |
11 |
69,193,918 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7425:Cntrob
|
UTSW |
11 |
69,205,560 (GRCm39) |
nonsense |
probably null |
|
|
R7928:Cntrob
|
UTSW |
11 |
69,191,121 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7946:Cntrob
|
UTSW |
11 |
69,206,047 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8348:Cntrob
|
UTSW |
11 |
69,190,679 (GRCm39) |
missense |
unknown |
|
|
R8448:Cntrob
|
UTSW |
11 |
69,190,679 (GRCm39) |
missense |
unknown |
|
|
R8539:Cntrob
|
UTSW |
11 |
69,211,652 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9259:Cntrob
|
UTSW |
11 |
69,211,665 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9415:Cntrob
|
UTSW |
11 |
69,193,741 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9553:Cntrob
|
UTSW |
11 |
69,205,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9626:Cntrob
|
UTSW |
11 |
69,202,167 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9628:Cntrob
|
UTSW |
11 |
69,213,782 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9801:Cntrob
|
UTSW |
11 |
69,212,233 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1177:Cntrob
|
UTSW |
11 |
69,202,275 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1186:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1186:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1187:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1188:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1189:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1190:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1191:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1192:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGGGACTGAAGCAAGGC -3'
(R):5'- ACTAGAAGGCTCTCCCAGAC -3'
Sequencing Primer
(F):5'- CATGGTGTACGGAGAGGCTC -3'
(R):5'- GACACGATTTCTAAGTATAGCCCTGG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation