Incidental Mutation 'R0501:Cntrob'
| ID |
47143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrob
|
| Ensembl Gene |
ENSMUSG00000032782 |
| Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
| Synonyms |
Nip2, 9830165K03Rik, Lip8 |
| MMRRC Submission |
038696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R0501 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69213694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 32
(S32F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018614]
[ENSMUST00000060956]
[ENSMUST00000092973]
[ENSMUST00000102601]
[ENSMUST00000102602]
[ENSMUST00000108662]
[ENSMUST00000123176]
|
| AlphaFold |
Q8CB62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018614
|
| SMART Domains |
Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
Pfam:Aldo_ket_red
|
92 |
396 |
1.6e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060956
|
| SMART Domains |
Protein: ENSMUSP00000050153
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
109 |
2.2e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092973
AA Change: S32F
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: S32F
| 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: ENSMUST00000102601
|
| SMART Domains |
Protein: ENSMUSP00000099661
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
137 |
1.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102602
|
| SMART Domains |
Protein: ENSMUSP00000099662
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
137 |
1.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108662
|
| SMART Domains |
Protein: ENSMUSP00000104302
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
127 |
2.2e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123176
AA Change: S32F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176938
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,209,216 (GRCm39) |
S415P |
probably benign |
Het |
| Adam19 |
C |
T |
11: 46,013,957 (GRCm39) |
P316S |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,558,972 (GRCm39) |
D229G |
probably benign |
Het |
| Adcy10 |
C |
T |
1: 165,337,959 (GRCm39) |
P191L |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,707,269 (GRCm39) |
Y1379C |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,020,685 (GRCm39) |
L1132P |
probably damaging |
Het |
| Aoah |
A |
G |
13: 21,189,243 (GRCm39) |
T489A |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,150,958 (GRCm39) |
L1975P |
probably damaging |
Het |
| Bpifa5 |
A |
T |
2: 154,005,616 (GRCm39) |
D66V |
probably benign |
Het |
| C230029F24Rik |
T |
C |
1: 49,374,629 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1h |
A |
T |
17: 25,607,641 (GRCm39) |
V892E |
probably damaging |
Het |
| Car4 |
G |
A |
11: 84,854,268 (GRCm39) |
V72I |
probably benign |
Het |
| Cfap91 |
C |
G |
16: 38,155,997 (GRCm39) |
M75I |
probably damaging |
Het |
| Chst3 |
A |
G |
10: 60,022,049 (GRCm39) |
L266P |
probably damaging |
Het |
| Ckap2l |
G |
A |
2: 129,127,411 (GRCm39) |
R256W |
possibly damaging |
Het |
| Cntn4 |
A |
T |
6: 106,595,296 (GRCm39) |
D471V |
probably damaging |
Het |
| Cpne7 |
T |
A |
8: 123,852,994 (GRCm39) |
N200K |
possibly damaging |
Het |
| Creb3l3 |
C |
A |
10: 80,922,416 (GRCm39) |
M271I |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,077,339 (GRCm39) |
Q106L |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 133,896,701 (GRCm39) |
T563I |
probably damaging |
Het |
| Dmac1 |
T |
G |
4: 75,196,413 (GRCm39) |
N26H |
unknown |
Het |
| Dop1b |
T |
C |
16: 93,549,750 (GRCm39) |
F230L |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,930,604 (GRCm39) |
I812N |
probably damaging |
Het |
| Fabp12 |
T |
C |
3: 10,315,203 (GRCm39) |
D48G |
probably benign |
Het |
| Fbn1 |
G |
A |
2: 125,143,669 (GRCm39) |
T2820M |
probably benign |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,901,023 (GRCm39) |
S277R |
possibly damaging |
Het |
| Fmo2 |
A |
G |
1: 162,704,497 (GRCm39) |
S470P |
probably benign |
Het |
| Gm17541 |
T |
G |
12: 4,739,730 (GRCm39) |
|
probably benign |
Het |
| Gm4353 |
A |
T |
7: 115,682,706 (GRCm39) |
Y292N |
probably benign |
Het |
| Igkv4-71 |
A |
T |
6: 69,220,290 (GRCm39) |
I69N |
probably damaging |
Het |
| Insrr |
G |
T |
3: 87,717,991 (GRCm39) |
A871S |
probably benign |
Het |
| Irs2 |
C |
T |
8: 11,056,396 (GRCm39) |
V679M |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,326,263 (GRCm39) |
H1344Q |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,361,784 (GRCm39) |
M1074V |
possibly damaging |
Het |
| Kif1a |
G |
A |
1: 92,983,967 (GRCm39) |
R602W |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,090,837 (GRCm39) |
D1215V |
probably benign |
Het |
| Mapk13 |
G |
A |
17: 28,995,327 (GRCm39) |
V183M |
probably damaging |
Het |
| Mbp |
C |
T |
18: 82,593,322 (GRCm39) |
S100F |
probably damaging |
Het |
| Mcm6 |
A |
G |
1: 128,283,373 (GRCm39) |
I44T |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,264,148 (GRCm39) |
D418V |
possibly damaging |
Het |
| Nid2 |
T |
A |
14: 19,839,736 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
T |
C |
19: 46,067,359 (GRCm39) |
V80A |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,635,439 (GRCm39) |
T26S |
probably benign |
Het |
| Or10ak14 |
C |
A |
4: 118,611,027 (GRCm39) |
C238F |
probably benign |
Het |
| Or12e9 |
A |
T |
2: 87,201,896 (GRCm39) |
R7W |
probably damaging |
Het |
| Or13e8 |
A |
C |
4: 43,697,079 (GRCm39) |
C31W |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,702,492 (GRCm39) |
L204* |
probably null |
Het |
| Or2ag1 |
A |
T |
7: 106,313,810 (GRCm39) |
M26K |
probably benign |
Het |
| Or2ag18 |
G |
A |
7: 106,405,018 (GRCm39) |
S217F |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,270,060 (GRCm39) |
T188A |
probably benign |
Het |
| Or4e1 |
T |
A |
14: 52,701,383 (GRCm39) |
M1L |
possibly damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,815 (GRCm39) |
I51N |
probably damaging |
Het |
| Or5m12 |
A |
G |
2: 85,735,348 (GRCm39) |
F17L |
probably damaging |
Het |
| Or7g35 |
T |
A |
9: 19,495,914 (GRCm39) |
I27N |
probably damaging |
Het |
| Pcgf3 |
T |
A |
5: 108,622,978 (GRCm39) |
C38S |
probably damaging |
Het |
| Pdia4 |
A |
T |
6: 47,777,936 (GRCm39) |
V352E |
probably damaging |
Het |
| Pik3c2a |
C |
A |
7: 115,953,290 (GRCm39) |
V1202L |
probably damaging |
Het |
| Rbm15 |
G |
T |
3: 107,239,846 (GRCm39) |
A184E |
possibly damaging |
Het |
| Rsph3a |
T |
A |
17: 8,197,952 (GRCm39) |
L442* |
probably null |
Het |
| Scg2 |
G |
C |
1: 79,413,320 (GRCm39) |
L468V |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,923,473 (GRCm39) |
I365L |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,246,140 (GRCm39) |
V595A |
probably benign |
Het |
| Skic3 |
A |
C |
13: 76,295,925 (GRCm39) |
M1063L |
probably benign |
Het |
| Slc22a22 |
T |
A |
15: 57,113,046 (GRCm39) |
T398S |
probably benign |
Het |
| Stk11 |
C |
A |
10: 79,962,119 (GRCm39) |
P217Q |
probably damaging |
Het |
| Tes |
G |
A |
6: 17,097,557 (GRCm39) |
D222N |
probably benign |
Het |
| Tmem132e |
T |
A |
11: 82,325,894 (GRCm39) |
I206N |
possibly damaging |
Het |
| Tmem214 |
G |
T |
5: 31,029,876 (GRCm39) |
R251L |
probably damaging |
Het |
| Tmem253 |
T |
A |
14: 52,256,036 (GRCm39) |
I105N |
probably damaging |
Het |
| Toe1 |
A |
G |
4: 116,664,682 (GRCm39) |
V12A |
probably benign |
Het |
| Top1 |
C |
A |
2: 160,556,079 (GRCm39) |
H513N |
probably damaging |
Het |
| Tph1 |
G |
T |
7: 46,299,412 (GRCm39) |
Y376* |
probably null |
Het |
| Trim45 |
T |
A |
3: 100,830,535 (GRCm39) |
L103Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,774,518 (GRCm39) |
|
probably null |
Het |
| Twnk |
T |
C |
19: 44,996,185 (GRCm39) |
V206A |
probably damaging |
Het |
| Ube2z |
A |
G |
11: 95,941,114 (GRCm39) |
S343P |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,951,049 (GRCm39) |
D132G |
probably benign |
Het |
| Wdr20rt |
A |
T |
12: 65,272,581 (GRCm39) |
T15S |
probably benign |
Het |
| Wdr59 |
C |
T |
8: 112,185,579 (GRCm39) |
R841Q |
possibly damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,036,151 (GRCm39) |
F130L |
possibly damaging |
Het |
| Wnk1 |
C |
T |
6: 119,939,764 (GRCm39) |
R43Q |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,236 (GRCm39) |
L461P |
probably damaging |
Het |
| Zcchc2 |
T |
G |
1: 105,943,821 (GRCm39) |
F462C |
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 |
|
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'- GCATGAAAGCCCTGTGTGCTTG -3'
(R):5'- TGGAGTCAGTGGACACTCCTCTAAC -3'
Sequencing Primer
(F):5'- GCCCAGGAACCTAATGCTTTC -3'
(R):5'- GCTCATTTGTTGAGGACCCAAAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation