Incidental Mutation 'R9553:Cntrob'
| ID |
720620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrob
|
| Ensembl Gene |
ENSMUSG00000032782 |
| Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
| Synonyms |
Nip2, 9830165K03Rik, Lip8 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R9553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69205679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 385
(N385S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092973]
[ENSMUST00000123176]
|
| AlphaFold |
Q8CB62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092973
AA Change: N385S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: N385S
| 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: ENSMUST00000176938
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
C |
T |
7: 43,900,334 (GRCm39) |
R80W |
probably damaging |
Het |
| Ankdd1b |
G |
T |
13: 96,591,294 (GRCm39) |
N68K |
possibly damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,619,115 (GRCm39) |
E452G |
probably damaging |
Het |
| Cbx8 |
T |
G |
11: 118,930,964 (GRCm39) |
E45D |
probably damaging |
Het |
| Ceacam15 |
T |
C |
7: 16,407,316 (GRCm39) |
Y67C |
probably damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,723,926 (GRCm39) |
Y570C |
probably damaging |
Het |
| Cnga4 |
A |
G |
7: 105,054,977 (GRCm39) |
Y187C |
probably damaging |
Het |
| Coro7 |
A |
G |
16: 4,486,624 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,264,956 (GRCm39) |
Y2150C |
probably damaging |
Het |
| E2f8 |
A |
G |
7: 48,528,394 (GRCm39) |
S25P |
probably damaging |
Het |
| Eif1ad7 |
A |
G |
12: 88,238,476 (GRCm39) |
Y95H |
probably damaging |
Het |
| Eif3d |
T |
C |
15: 77,843,837 (GRCm39) |
E503G |
probably damaging |
Het |
| Elp6 |
T |
A |
9: 110,144,965 (GRCm39) |
V157D |
probably damaging |
Het |
| Entpd3 |
T |
C |
9: 120,387,546 (GRCm39) |
Y248H |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,844,561 (GRCm39) |
E561G |
unknown |
Het |
| Fbxl13 |
C |
T |
5: 21,728,151 (GRCm39) |
G519S |
probably damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,309,228 (GRCm39) |
S422A |
probably damaging |
Het |
| Flg2 |
G |
A |
3: 93,121,901 (GRCm39) |
C1357Y |
unknown |
Het |
| Fpr3 |
T |
A |
17: 18,191,612 (GRCm39) |
N294K |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,525,048 (GRCm39) |
Q312R |
possibly damaging |
Het |
| Glg1 |
C |
T |
8: 111,926,770 (GRCm39) |
E182K |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,087 (GRCm39) |
D374G |
probably damaging |
Het |
| Ifrd2 |
C |
T |
9: 107,468,285 (GRCm39) |
T251I |
possibly damaging |
Het |
| Igkv4-91 |
C |
T |
6: 68,745,632 (GRCm39) |
G89R |
possibly damaging |
Het |
| Kcnk1 |
C |
A |
8: 126,756,322 (GRCm39) |
Y281* |
probably null |
Het |
| Kcp |
G |
T |
6: 29,485,100 (GRCm39) |
F1217L |
probably null |
Het |
| Lama3 |
G |
A |
18: 12,563,019 (GRCm39) |
G514D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,008,800 (GRCm39) |
L34P |
probably damaging |
Het |
| Mak |
T |
A |
13: 41,183,595 (GRCm39) |
T562S |
probably benign |
Het |
| Nfatc4 |
A |
G |
14: 56,070,259 (GRCm39) |
E879G |
probably damaging |
Het |
| Or5w14 |
A |
T |
2: 87,541,992 (GRCm39) |
V86E |
probably benign |
Het |
| Pcdhb19 |
C |
T |
18: 37,631,848 (GRCm39) |
R548C |
probably damaging |
Het |
| Peli2 |
A |
G |
14: 48,488,150 (GRCm39) |
I165V |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,753,977 (GRCm39) |
M148L |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,637,014 (GRCm39) |
G172R |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,928,310 (GRCm39) |
V537A |
probably damaging |
Het |
| Rnf135 |
T |
A |
11: 80,074,758 (GRCm39) |
S6T |
probably benign |
Het |
| Sirpb1a |
C |
T |
3: 15,476,320 (GRCm39) |
C226Y |
probably damaging |
Het |
| Speg |
A |
C |
1: 75,394,645 (GRCm39) |
I1785L |
probably benign |
Het |
| Spry4 |
T |
C |
18: 38,723,070 (GRCm39) |
N231S |
probably damaging |
Het |
| Tchh |
C |
T |
3: 93,355,125 (GRCm39) |
Q1522* |
probably null |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Trav7d-3 |
G |
T |
14: 52,981,820 (GRCm39) |
|
probably benign |
Het |
| Vmn2r49 |
A |
C |
7: 9,720,849 (GRCm39) |
V214G |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,743 (GRCm39) |
Y32H |
probably benign |
Het |
| Vwf |
A |
C |
6: 125,577,662 (GRCm39) |
D501A |
|
Het |
| Zfp428 |
A |
G |
7: 24,214,866 (GRCm39) |
T161A |
possibly damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
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 |
|
|
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 |
|
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'- TGTGTGCTCAAACCTGCTTT -3'
(R):5'- TTGAGGACCAGTGTGAAGGT -3'
Sequencing Primer
(F):5'- TGCTTTCTCAACTGCAGAACAC -3'
(R):5'- CCAGTGTGAAGGTCTGGGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation