Incidental Mutation 'R9628:Cntrob'
| ID |
725295 |
| 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 # |
R9628 (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 69213782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 3
(T3A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090651
(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: T3A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: T3A
| 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 benign
Transcript: ENSMUST00000123176
AA Change: T3A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,193 (GRCm39) |
N635D |
probably damaging |
Het |
| Ankrd13c |
G |
C |
3: 157,653,313 (GRCm39) |
K50N |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,838,025 (GRCm39) |
Y635C |
unknown |
Het |
| Avl9 |
T |
A |
6: 56,713,460 (GRCm39) |
Y239* |
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,097,961 (GRCm39) |
H1449Q |
|
Het |
| Ccdc141 |
G |
A |
2: 76,844,838 (GRCm39) |
P1410S |
probably damaging |
Het |
| Ccz1 |
G |
A |
5: 143,925,043 (GRCm39) |
T471M |
possibly damaging |
Het |
| Cdh26 |
T |
C |
2: 178,083,213 (GRCm39) |
S27P |
|
Het |
| Cdk11b |
T |
G |
4: 155,734,154 (GRCm39) |
D756E |
unknown |
Het |
| Celsr3 |
C |
A |
9: 108,703,559 (GRCm39) |
S14* |
probably null |
Het |
| Cracd |
A |
G |
5: 77,004,923 (GRCm39) |
E428G |
unknown |
Het |
| Csde1 |
T |
C |
3: 102,962,825 (GRCm39) |
V738A |
probably benign |
Het |
| Dazap1 |
T |
C |
10: 80,118,999 (GRCm39) |
Y230H |
unknown |
Het |
| Dip2a |
A |
G |
10: 76,142,993 (GRCm39) |
I264T |
probably damaging |
Het |
| Dleu7 |
C |
A |
14: 62,530,144 (GRCm39) |
A86S |
possibly damaging |
Het |
| Dnmbp |
T |
A |
19: 43,858,646 (GRCm39) |
D132V |
probably damaging |
Het |
| Dppa4 |
T |
C |
16: 48,111,672 (GRCm39) |
V219A |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
| Egr4 |
T |
C |
6: 85,489,292 (GRCm39) |
Y256C |
probably benign |
Het |
| Ess2 |
A |
T |
16: 17,720,757 (GRCm39) |
M363K |
probably damaging |
Het |
| Fam124a |
A |
G |
14: 62,825,010 (GRCm39) |
E168G |
probably damaging |
Het |
| Gata4 |
T |
C |
14: 63,478,545 (GRCm39) |
Y18C |
probably damaging |
Het |
| Gckr |
C |
A |
5: 31,457,934 (GRCm39) |
A147D |
probably damaging |
Het |
| H1f8 |
G |
A |
6: 115,924,700 (GRCm39) |
V69I |
probably damaging |
Het |
| Hook1 |
T |
C |
4: 95,901,560 (GRCm39) |
L506P |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Larp1b |
T |
C |
3: 40,916,103 (GRCm39) |
|
probably null |
Het |
| Ldhb |
T |
C |
6: 142,439,862 (GRCm39) |
E226G |
probably damaging |
Het |
| Lpar5 |
T |
G |
6: 125,058,948 (GRCm39) |
V223G |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,394,330 (GRCm39) |
V365A |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,776 (GRCm39) |
K464E |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,158,285 (GRCm39) |
I1000T |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,568,966 (GRCm39) |
L35P |
probably damaging |
Het |
| Nptx2 |
G |
A |
5: 144,490,261 (GRCm39) |
R230H |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,183,274 (GRCm39) |
R328H |
probably damaging |
Het |
| Or1e25 |
G |
A |
11: 73,493,864 (GRCm39) |
V153I |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,670 (GRCm39) |
V246A |
probably damaging |
Het |
| Or8b1 |
T |
G |
9: 38,399,871 (GRCm39) |
L182R |
probably benign |
Het |
| Padi6 |
G |
A |
4: 140,464,626 (GRCm39) |
T201I |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,354,985 (GRCm39) |
T13I |
possibly damaging |
Het |
| Ppp6r1 |
G |
A |
7: 4,636,112 (GRCm39) |
A782V |
probably benign |
Het |
| Rab18 |
G |
A |
18: 6,788,647 (GRCm39) |
V205M |
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,653 (GRCm39) |
V468A |
probably damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,398 (GRCm39) |
I722N |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,089,512 (GRCm39) |
V135A |
possibly damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,961,422 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
T |
C |
5: 31,197,746 (GRCm39) |
Y321C |
probably benign |
Het |
| Spag7 |
A |
T |
11: 70,555,186 (GRCm39) |
D178E |
probably benign |
Het |
| Swsap1 |
T |
G |
9: 21,867,172 (GRCm39) |
S39A |
|
Het |
| Tank |
A |
G |
2: 61,483,876 (GRCm39) |
T441A |
probably benign |
Het |
| Tor1aip1 |
C |
A |
1: 155,893,320 (GRCm39) |
G276* |
probably null |
Het |
| Usp47 |
G |
A |
7: 111,705,999 (GRCm39) |
M1220I |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r35 |
A |
G |
7: 7,815,702 (GRCm39) |
V489A |
probably benign |
Het |
| Wif1 |
T |
C |
10: 120,932,549 (GRCm39) |
V309A |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,842,630 (GRCm39) |
N434D |
probably damaging |
Het |
| Zfp462 |
A |
T |
4: 55,009,423 (GRCm39) |
H463L |
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 |
|
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 |
|
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'- TCTTGAGCCAAGCTGTCTAAG -3'
(R):5'- TCCATGGTCTCTGGAGTCAG -3'
Sequencing Primer
(F):5'- CTGTCTAAGCCCTCGTTAGG -3'
(R):5'- GGAGTCAGTGGACACTCCTCTAAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation