Incidental Mutation 'R8448:Cntrob'
ID |
654617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntrob
|
Ensembl Gene |
ENSMUSG00000032782 |
Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
Synonyms |
Nip2, 9830165K03Rik, Lip8 |
MMRRC Submission |
067828-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R8448 (G1)
|
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 69190679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 46
(F46L)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092973]
[ENSMUST00000123176]
[ENSMUST00000130780]
|
AlphaFold |
Q8CB62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092973
|
SMART Domains |
Protein: ENSMUSP00000090651 Gene: ENSMUSG00000032782
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 |
probably benign
Transcript: ENSMUST00000130780
|
SMART Domains |
Protein: ENSMUSP00000134842 Gene: ENSMUSG00000032782
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
64 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000176938
AA Change: F46L
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
C |
4: 62,461,022 (GRCm39) |
|
probably null |
Het |
Adamts6 |
T |
A |
13: 104,616,027 (GRCm39) |
C1030S |
probably damaging |
Het |
Adamtsl3 |
C |
A |
7: 82,253,007 (GRCm39) |
T1527K |
possibly damaging |
Het |
Akap9 |
G |
A |
5: 3,998,897 (GRCm39) |
|
probably null |
Het |
Ankle2 |
C |
A |
5: 110,389,909 (GRCm39) |
P457T |
possibly damaging |
Het |
Ankrd7 |
A |
G |
6: 18,868,007 (GRCm39) |
N91S |
probably damaging |
Het |
Ascc3 |
C |
A |
10: 50,494,173 (GRCm39) |
Q203K |
probably benign |
Het |
Baz2b |
A |
T |
2: 59,742,137 (GRCm39) |
D61E |
|
Het |
Bmpr1a |
T |
A |
14: 34,136,759 (GRCm39) |
K477N |
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,824,364 (GRCm39) |
I1040V |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,166,955 (GRCm39) |
F304L |
possibly damaging |
Het |
Cdkn2a |
C |
A |
4: 89,200,291 (GRCm39) |
V20L |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,445,173 (GRCm39) |
S385G |
probably damaging |
Het |
Cth |
T |
C |
3: 157,630,657 (GRCm39) |
D4G |
probably benign |
Het |
Cyld |
C |
T |
8: 89,456,197 (GRCm39) |
H416Y |
probably damaging |
Het |
Dennd6a |
C |
A |
14: 26,328,098 (GRCm39) |
H264Q |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,015,682 (GRCm39) |
Y1672C |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,892,814 (GRCm39) |
I800V |
probably benign |
Het |
Esrp2 |
A |
G |
8: 106,858,853 (GRCm39) |
Y595H |
probably damaging |
Het |
F12 |
T |
A |
13: 55,566,301 (GRCm39) |
Y497F |
probably benign |
Het |
Fggy |
A |
G |
4: 95,732,427 (GRCm39) |
T473A |
probably benign |
Het |
Garre1 |
A |
T |
7: 33,984,569 (GRCm39) |
L18Q |
probably damaging |
Het |
Gstt2 |
C |
A |
10: 75,668,526 (GRCm39) |
R107L |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,358,319 (GRCm39) |
|
probably benign |
Het |
Helb |
A |
G |
10: 119,938,791 (GRCm39) |
F561S |
probably damaging |
Het |
Ints2 |
T |
C |
11: 86,146,249 (GRCm39) |
T120A |
probably benign |
Het |
Kdm5d |
G |
A |
Y: 914,056 (GRCm39) |
R331H |
probably benign |
Het |
Krt6b |
A |
G |
15: 101,586,455 (GRCm39) |
Y345H |
probably damaging |
Het |
Limch1 |
A |
G |
5: 67,159,825 (GRCm39) |
K418E |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,511,726 (GRCm39) |
T81S |
unknown |
Het |
Med17 |
C |
T |
9: 15,173,735 (GRCm39) |
|
probably null |
Het |
Met |
A |
T |
6: 17,571,799 (GRCm39) |
I1373F |
probably benign |
Het |
Naip6 |
T |
A |
13: 100,436,894 (GRCm39) |
Q543L |
possibly damaging |
Het |
Nat9 |
T |
C |
11: 115,075,902 (GRCm39) |
T40A |
probably damaging |
Het |
Notch4 |
A |
T |
17: 34,805,763 (GRCm39) |
|
probably null |
Het |
Ogdh |
A |
G |
11: 6,292,619 (GRCm39) |
N455S |
probably damaging |
Het |
Or52k2 |
C |
A |
7: 102,254,207 (GRCm39) |
F215L |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,117,534 (GRCm39) |
F599L |
probably benign |
Het |
Pga5 |
T |
C |
19: 10,649,173 (GRCm39) |
Y249C |
probably damaging |
Het |
Plekha8 |
A |
T |
6: 54,607,539 (GRCm39) |
K382M |
probably damaging |
Het |
Plekhd1 |
A |
T |
12: 80,753,149 (GRCm39) |
E119V |
probably damaging |
Het |
Pnp |
A |
T |
14: 51,185,356 (GRCm39) |
H20L |
probably benign |
Het |
Polq |
A |
T |
16: 36,837,559 (GRCm39) |
|
probably null |
Het |
Psma3 |
T |
G |
12: 71,035,250 (GRCm39) |
I177R |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,240,784 (GRCm39) |
|
probably null |
Het |
Ptprt |
A |
T |
2: 161,400,806 (GRCm39) |
L1077Q |
probably damaging |
Het |
Ralgps2 |
A |
T |
1: 156,651,744 (GRCm39) |
|
probably null |
Het |
Rbm47 |
A |
T |
5: 66,184,573 (GRCm39) |
M10K |
possibly damaging |
Het |
Rere |
A |
G |
4: 150,703,653 (GRCm39) |
D186G |
probably damaging |
Het |
Rpl24 |
T |
C |
16: 55,787,453 (GRCm39) |
S38P |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,885,787 (GRCm39) |
F79L |
possibly damaging |
Het |
Sorl1 |
T |
A |
9: 41,903,041 (GRCm39) |
D1551V |
probably benign |
Het |
Sos1 |
C |
A |
17: 80,741,548 (GRCm39) |
M412I |
probably benign |
Het |
Spast |
G |
A |
17: 74,666,293 (GRCm39) |
V209I |
probably benign |
Het |
Spindoc |
G |
T |
19: 7,335,769 (GRCm39) |
Q340K |
possibly damaging |
Het |
Tlr6 |
T |
C |
5: 65,111,185 (GRCm39) |
Y574C |
probably damaging |
Het |
Tnrc6a |
A |
G |
7: 122,791,346 (GRCm39) |
N1748S |
possibly damaging |
Het |
Trbv13-2 |
A |
T |
6: 41,098,474 (GRCm39) |
K16N |
probably benign |
Het |
Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,225,933 (GRCm39) |
D659G |
possibly damaging |
Het |
Vmn2r88 |
T |
A |
14: 51,656,253 (GRCm39) |
C821S |
probably damaging |
Het |
Whamm |
T |
A |
7: 81,224,295 (GRCm39) |
V197D |
probably damaging |
Het |
Zfp777 |
A |
G |
6: 48,006,101 (GRCm39) |
F431S |
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 |
|
BB005:Cntrob
|
UTSW |
11 |
69,191,121 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
|
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'- CTAGGGCCACTCAGACATCTAG -3'
(R):5'- GAACTTGCTAGCATCCCCAC -3'
Sequencing Primer
(F):5'- TAGTCACACACCAGCCTCAAAGG -3'
(R):5'- GAGCCTCTCCGTACACCATG -3'
|
Posted On |
2020-10-20 |