Incidental Mutation 'R6643:Cntrob'
| ID |
525947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrob
|
| Ensembl Gene |
ENSMUSG00000032782 |
| Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
| Synonyms |
Nip2, 9830165K03Rik, Lip8 |
| MMRRC Submission |
044764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R6643 (G1)
|
| Quality Score |
211.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69202248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 448
(V448A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092973]
[ENSMUST00000123176]
|
| AlphaFold |
Q8CB62 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092973
AA Change: V448A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: V448A
| 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 |
noncoding transcript
Transcript: ENSMUST00000125777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176938
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,183,644 (GRCm39) |
S140P |
probably damaging |
Het |
| Atp5mc1 |
A |
C |
11: 95,964,854 (GRCm39) |
C17W |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,417,470 (GRCm39) |
S161P |
unknown |
Het |
| Col22a1 |
T |
C |
15: 71,693,886 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,877,830 (GRCm39) |
Y2049C |
probably damaging |
Het |
| Cpn1 |
C |
T |
19: 43,948,472 (GRCm39) |
D395N |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,266,390 (GRCm39) |
T769A |
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,349,607 (GRCm39) |
H62L |
probably damaging |
Het |
| Ddx42 |
G |
T |
11: 106,119,646 (GRCm39) |
V144F |
probably benign |
Het |
| E130308A19Rik |
A |
G |
4: 59,720,561 (GRCm39) |
S698G |
possibly damaging |
Het |
| Eif2b3 |
T |
C |
4: 116,927,954 (GRCm39) |
L391P |
probably damaging |
Het |
| Gm1043 |
T |
C |
5: 37,330,895 (GRCm39) |
I525T |
probably benign |
Het |
| Kifc1 |
C |
T |
17: 34,104,829 (GRCm39) |
G59S |
probably benign |
Het |
| Lancl1 |
T |
C |
1: 67,043,542 (GRCm39) |
E360G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,332,340 (GRCm39) |
L1679S |
probably benign |
Het |
| Mroh9 |
T |
A |
1: 162,903,130 (GRCm39) |
D91V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ntsr1 |
T |
C |
2: 180,142,719 (GRCm39) |
I170T |
probably damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,340,911 (GRCm39) |
I77F |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,351,776 (GRCm39) |
I273T |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,611 (GRCm39) |
L249P |
probably damaging |
Het |
| Or6z5 |
G |
A |
7: 6,477,720 (GRCm39) |
D204N |
probably benign |
Het |
| Pcolce |
T |
A |
5: 137,607,165 (GRCm39) |
T109S |
probably damaging |
Het |
| Reg3b |
C |
A |
6: 78,349,905 (GRCm39) |
S148R |
possibly damaging |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,731 (GRCm39) |
S365P |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,702,860 (GRCm39) |
E563G |
probably benign |
Het |
| Slc4a10 |
C |
T |
2: 62,059,054 (GRCm39) |
T187M |
possibly damaging |
Het |
| Slc5a7 |
G |
T |
17: 54,583,644 (GRCm39) |
Q549K |
probably benign |
Het |
| Stxbp3 |
A |
G |
3: 108,701,150 (GRCm39) |
L573P |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,687,001 (GRCm39) |
S120T |
possibly damaging |
Het |
| Tnni2 |
G |
T |
7: 141,998,016 (GRCm39) |
G163V |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,923,262 (GRCm39) |
I201T |
possibly damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,945 (GRCm39) |
T263A |
probably benign |
Het |
| Wdr1 |
A |
T |
5: 38,697,521 (GRCm39) |
D262E |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,343,667 (GRCm39) |
E682G |
possibly 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 |
|
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'- ACAGGACTGGAAGTACACCG -3'
(R):5'- GCATCTGAGTCACTGTCCAAGG -3'
Sequencing Primer
(F):5'- CTGGAAGTACACCGGGAGTC -3'
(R):5'- AGTCACTGTCCAAGGCAGAGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation