Incidental Mutation 'R0324:Cntln'
ID |
26337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntln
|
Ensembl Gene |
ENSMUSG00000038070 |
Gene Name |
centlein, centrosomal protein |
Synonyms |
D530005L17Rik, B430108F07Rik |
MMRRC Submission |
038534-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
R0324 (G1)
|
Quality Score |
174 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
84802546-85050158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85010932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1049
(V1049E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047023]
[ENSMUST00000169371]
|
AlphaFold |
A2AM05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047023
AA Change: V1049E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044138 Gene: ENSMUSG00000038070 AA Change: V1049E
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
low complexity region
|
58 |
86 |
N/A |
INTRINSIC |
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
internal_repeat_1
|
198 |
219 |
1.25e-5 |
PROSPERO |
low complexity region
|
242 |
251 |
N/A |
INTRINSIC |
internal_repeat_1
|
321 |
342 |
1.25e-5 |
PROSPERO |
low complexity region
|
346 |
358 |
N/A |
INTRINSIC |
coiled coil region
|
404 |
433 |
N/A |
INTRINSIC |
low complexity region
|
434 |
446 |
N/A |
INTRINSIC |
coiled coil region
|
458 |
481 |
N/A |
INTRINSIC |
coiled coil region
|
516 |
584 |
N/A |
INTRINSIC |
coiled coil region
|
606 |
648 |
N/A |
INTRINSIC |
coiled coil region
|
674 |
780 |
N/A |
INTRINSIC |
low complexity region
|
815 |
829 |
N/A |
INTRINSIC |
coiled coil region
|
973 |
1114 |
N/A |
INTRINSIC |
low complexity region
|
1206 |
1217 |
N/A |
INTRINSIC |
Blast:HisKA
|
1270 |
1326 |
1e-24 |
BLAST |
low complexity region
|
1327 |
1348 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169371
AA Change: V1048E
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130491 Gene: ENSMUSG00000038070 AA Change: V1048E
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
low complexity region
|
58 |
86 |
N/A |
INTRINSIC |
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
internal_repeat_1
|
198 |
219 |
1.24e-5 |
PROSPERO |
low complexity region
|
242 |
251 |
N/A |
INTRINSIC |
internal_repeat_1
|
321 |
342 |
1.24e-5 |
PROSPERO |
low complexity region
|
346 |
358 |
N/A |
INTRINSIC |
coiled coil region
|
404 |
433 |
N/A |
INTRINSIC |
low complexity region
|
434 |
446 |
N/A |
INTRINSIC |
coiled coil region
|
458 |
481 |
N/A |
INTRINSIC |
coiled coil region
|
516 |
584 |
N/A |
INTRINSIC |
coiled coil region
|
606 |
648 |
N/A |
INTRINSIC |
coiled coil region
|
674 |
780 |
N/A |
INTRINSIC |
low complexity region
|
815 |
829 |
N/A |
INTRINSIC |
coiled coil region
|
972 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1205 |
1216 |
N/A |
INTRINSIC |
Blast:HisKA
|
1269 |
1325 |
1e-24 |
BLAST |
low complexity region
|
1326 |
1347 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.1%
- 20x: 93.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,219,989 (GRCm39) |
L357S |
probably benign |
Het |
1700129C05Rik |
C |
T |
14: 59,380,256 (GRCm39) |
R14H |
probably damaging |
Het |
Aatf |
A |
G |
11: 84,402,965 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,247,669 (GRCm39) |
M2472K |
possibly damaging |
Het |
Abcd3 |
C |
A |
3: 121,562,816 (GRCm39) |
Q540H |
probably null |
Het |
Adam17 |
C |
T |
12: 21,399,939 (GRCm39) |
V156I |
probably benign |
Het |
Adam26a |
A |
G |
8: 44,021,490 (GRCm39) |
S667P |
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,391,818 (GRCm39) |
K1333E |
probably benign |
Het |
Apob |
G |
A |
12: 8,060,521 (GRCm39) |
R2968Q |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,106,278 (GRCm39) |
P1522S |
possibly damaging |
Het |
Catsper1 |
A |
T |
19: 5,386,573 (GRCm39) |
S269C |
probably damaging |
Het |
Cd209d |
A |
T |
8: 3,928,258 (GRCm39) |
S42R |
probably benign |
Het |
Cracr2b |
T |
C |
7: 141,043,659 (GRCm39) |
F87L |
probably damaging |
Het |
Crb3 |
T |
C |
17: 57,372,133 (GRCm39) |
L60P |
probably damaging |
Het |
Crispld1 |
T |
C |
1: 17,819,815 (GRCm39) |
V271A |
probably benign |
Het |
Cyp2c66 |
G |
T |
19: 39,165,135 (GRCm39) |
R372L |
probably benign |
Het |
Deup1 |
G |
A |
9: 15,493,829 (GRCm39) |
R438W |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,150,541 (GRCm39) |
E741K |
possibly damaging |
Het |
Epha4 |
T |
C |
1: 77,360,188 (GRCm39) |
E703G |
probably damaging |
Het |
Evc2 |
G |
A |
5: 37,550,443 (GRCm39) |
R819H |
probably damaging |
Het |
Fam217a |
A |
C |
13: 35,094,944 (GRCm39) |
C272G |
possibly damaging |
Het |
Fndc7 |
T |
C |
3: 108,784,015 (GRCm39) |
|
probably null |
Het |
Foxs1 |
C |
T |
2: 152,774,607 (GRCm39) |
G149S |
probably benign |
Het |
Galnt13 |
T |
C |
2: 54,744,628 (GRCm39) |
V109A |
probably benign |
Het |
Hmgxb4 |
G |
A |
8: 75,725,556 (GRCm39) |
M7I |
probably benign |
Het |
Klk1b1 |
T |
A |
7: 43,620,165 (GRCm39) |
C209* |
probably null |
Het |
Klra10 |
A |
G |
6: 130,249,613 (GRCm39) |
|
probably null |
Het |
Kntc1 |
A |
T |
5: 123,916,175 (GRCm39) |
K701N |
probably damaging |
Het |
Lpgat1 |
T |
A |
1: 191,481,754 (GRCm39) |
L114Q |
probably damaging |
Het |
Mecom |
T |
A |
3: 30,017,261 (GRCm39) |
Q468L |
probably damaging |
Het |
Med15 |
T |
C |
16: 17,515,476 (GRCm39) |
T70A |
probably damaging |
Het |
Msh6 |
T |
A |
17: 88,294,048 (GRCm39) |
Y934* |
probably null |
Het |
Mtus1 |
T |
C |
8: 41,537,432 (GRCm39) |
T95A |
probably benign |
Het |
Mylk3 |
C |
A |
8: 86,079,535 (GRCm39) |
R444S |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,965,369 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
T |
C |
1: 60,332,032 (GRCm39) |
V2242A |
probably damaging |
Het |
Nhp2 |
A |
G |
11: 51,513,334 (GRCm39) |
T85A |
possibly damaging |
Het |
Nlk |
A |
G |
11: 78,463,257 (GRCm39) |
S413P |
possibly damaging |
Het |
Nmbr |
A |
G |
10: 14,636,192 (GRCm39) |
I54V |
possibly damaging |
Het |
Nmur2 |
A |
T |
11: 55,931,346 (GRCm39) |
C122S |
probably damaging |
Het |
Nudt13 |
G |
T |
14: 20,361,583 (GRCm39) |
V220L |
probably damaging |
Het |
Or5m13 |
G |
A |
2: 85,748,295 (GRCm39) |
V9M |
probably benign |
Het |
Pclo |
G |
A |
5: 14,719,447 (GRCm39) |
G1195R |
unknown |
Het |
Pcsk7 |
A |
G |
9: 45,824,309 (GRCm39) |
H276R |
possibly damaging |
Het |
Pdss2 |
T |
C |
10: 43,269,924 (GRCm39) |
S256P |
probably damaging |
Het |
Pgf |
G |
T |
12: 85,218,198 (GRCm39) |
H116N |
probably benign |
Het |
Pglyrp2 |
T |
C |
17: 32,637,302 (GRCm39) |
D242G |
probably benign |
Het |
Plk2 |
G |
A |
13: 110,534,242 (GRCm39) |
R274K |
probably benign |
Het |
Ppp6r3 |
G |
T |
19: 3,514,693 (GRCm39) |
P141T |
probably benign |
Het |
Prss54 |
T |
C |
8: 96,292,295 (GRCm39) |
T95A |
probably benign |
Het |
Rab3il1 |
A |
G |
19: 10,005,653 (GRCm39) |
D149G |
probably damaging |
Het |
Rasgef1c |
T |
C |
11: 49,852,057 (GRCm39) |
|
probably null |
Het |
Rhpn1 |
T |
C |
15: 75,583,437 (GRCm39) |
M334T |
probably damaging |
Het |
Rigi |
T |
C |
4: 40,213,766 (GRCm39) |
T586A |
probably benign |
Het |
Robo2 |
C |
T |
16: 73,764,739 (GRCm39) |
V630M |
probably damaging |
Het |
Rptor |
C |
T |
11: 119,783,467 (GRCm39) |
R1154W |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,339,778 (GRCm39) |
I192M |
possibly damaging |
Het |
Sit1 |
G |
A |
4: 43,482,815 (GRCm39) |
Q115* |
probably null |
Het |
Slc13a2 |
T |
C |
11: 78,295,350 (GRCm39) |
N141S |
probably damaging |
Het |
Slc19a2 |
C |
A |
1: 164,084,344 (GRCm39) |
T78K |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,287,291 (GRCm39) |
|
probably null |
Het |
Stil |
T |
A |
4: 114,896,346 (GRCm39) |
C944S |
probably benign |
Het |
Tex56 |
A |
G |
13: 35,108,596 (GRCm39) |
N26S |
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,419,893 (GRCm39) |
N675S |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,032,516 (GRCm39) |
I270T |
possibly damaging |
Het |
Ugt2a3 |
C |
T |
5: 87,474,932 (GRCm39) |
|
probably null |
Het |
Vmn1r213 |
A |
T |
13: 23,195,588 (GRCm39) |
|
probably benign |
Het |
Vmn2r8 |
A |
C |
5: 108,945,807 (GRCm39) |
|
probably null |
Het |
Vps13c |
T |
C |
9: 67,871,591 (GRCm39) |
F3253L |
possibly damaging |
Het |
Zbtb16 |
G |
T |
9: 48,576,575 (GRCm39) |
Q502K |
possibly damaging |
Het |
Zfp143 |
A |
G |
7: 109,676,354 (GRCm39) |
K218E |
possibly damaging |
Het |
Zfp946 |
A |
G |
17: 22,673,417 (GRCm39) |
N57S |
probably benign |
Het |
Zfp985 |
T |
C |
4: 147,667,314 (GRCm39) |
Y61H |
probably benign |
Het |
Zkscan1 |
G |
A |
5: 138,095,785 (GRCm39) |
R246Q |
probably damaging |
Het |
Zpld1 |
A |
G |
16: 55,071,978 (GRCm39) |
F94L |
probably damaging |
Het |
Zswim5 |
G |
T |
4: 116,844,103 (GRCm39) |
W1047L |
probably damaging |
Het |
|
Other mutations in Cntln |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00639:Cntln
|
APN |
4 |
84,924,671 (GRCm39) |
missense |
probably benign |
0.25 |
IGL00743:Cntln
|
APN |
4 |
84,897,652 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01014:Cntln
|
APN |
4 |
84,968,145 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02217:Cntln
|
APN |
4 |
85,018,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02323:Cntln
|
APN |
4 |
84,968,026 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02353:Cntln
|
APN |
4 |
84,968,087 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02360:Cntln
|
APN |
4 |
84,968,087 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02616:Cntln
|
APN |
4 |
85,033,689 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4696001:Cntln
|
UTSW |
4 |
84,892,237 (GRCm39) |
missense |
probably damaging |
0.99 |
R0110:Cntln
|
UTSW |
4 |
85,014,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Cntln
|
UTSW |
4 |
84,914,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R0519:Cntln
|
UTSW |
4 |
84,923,290 (GRCm39) |
splice site |
probably benign |
|
R0529:Cntln
|
UTSW |
4 |
84,986,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R0582:Cntln
|
UTSW |
4 |
84,802,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R1077:Cntln
|
UTSW |
4 |
84,914,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R1345:Cntln
|
UTSW |
4 |
84,892,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1457:Cntln
|
UTSW |
4 |
85,015,076 (GRCm39) |
missense |
probably benign |
0.33 |
R1571:Cntln
|
UTSW |
4 |
84,865,823 (GRCm39) |
nonsense |
probably null |
|
R1622:Cntln
|
UTSW |
4 |
84,981,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R1681:Cntln
|
UTSW |
4 |
84,865,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R1777:Cntln
|
UTSW |
4 |
85,048,916 (GRCm39) |
missense |
probably benign |
0.23 |
R1808:Cntln
|
UTSW |
4 |
85,015,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R1882:Cntln
|
UTSW |
4 |
85,019,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R2056:Cntln
|
UTSW |
4 |
84,967,911 (GRCm39) |
missense |
probably benign |
|
R2965:Cntln
|
UTSW |
4 |
84,892,264 (GRCm39) |
critical splice donor site |
probably null |
|
R2968:Cntln
|
UTSW |
4 |
84,875,504 (GRCm39) |
missense |
probably benign |
0.27 |
R3104:Cntln
|
UTSW |
4 |
84,875,406 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3106:Cntln
|
UTSW |
4 |
84,875,406 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3121:Cntln
|
UTSW |
4 |
84,923,289 (GRCm39) |
splice site |
probably benign |
|
R3617:Cntln
|
UTSW |
4 |
84,923,214 (GRCm39) |
nonsense |
probably null |
|
R4009:Cntln
|
UTSW |
4 |
84,981,452 (GRCm39) |
missense |
probably benign |
0.45 |
R4036:Cntln
|
UTSW |
4 |
84,924,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R4548:Cntln
|
UTSW |
4 |
85,015,079 (GRCm39) |
missense |
probably benign |
0.27 |
R4592:Cntln
|
UTSW |
4 |
84,889,419 (GRCm39) |
missense |
probably benign |
0.00 |
R4666:Cntln
|
UTSW |
4 |
84,889,453 (GRCm39) |
missense |
probably benign |
0.13 |
R4826:Cntln
|
UTSW |
4 |
84,923,281 (GRCm39) |
missense |
probably benign |
0.03 |
R4836:Cntln
|
UTSW |
4 |
84,967,957 (GRCm39) |
nonsense |
probably null |
|
R4856:Cntln
|
UTSW |
4 |
84,889,466 (GRCm39) |
missense |
probably benign |
0.35 |
R4886:Cntln
|
UTSW |
4 |
84,889,466 (GRCm39) |
missense |
probably benign |
0.35 |
R4995:Cntln
|
UTSW |
4 |
84,968,120 (GRCm39) |
missense |
probably benign |
0.00 |
R5090:Cntln
|
UTSW |
4 |
84,865,830 (GRCm39) |
missense |
probably damaging |
0.98 |
R5202:Cntln
|
UTSW |
4 |
84,889,466 (GRCm39) |
missense |
probably benign |
0.35 |
R5905:Cntln
|
UTSW |
4 |
84,889,410 (GRCm39) |
missense |
probably benign |
0.03 |
R5953:Cntln
|
UTSW |
4 |
84,968,156 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6028:Cntln
|
UTSW |
4 |
84,889,410 (GRCm39) |
missense |
probably benign |
0.03 |
R6298:Cntln
|
UTSW |
4 |
85,014,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R6351:Cntln
|
UTSW |
4 |
85,033,591 (GRCm39) |
missense |
probably damaging |
0.99 |
R6371:Cntln
|
UTSW |
4 |
84,802,816 (GRCm39) |
missense |
probably damaging |
0.98 |
R6481:Cntln
|
UTSW |
4 |
84,985,747 (GRCm39) |
missense |
probably benign |
0.00 |
R6864:Cntln
|
UTSW |
4 |
85,015,029 (GRCm39) |
missense |
probably damaging |
0.99 |
R6874:Cntln
|
UTSW |
4 |
84,985,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R6919:Cntln
|
UTSW |
4 |
85,033,605 (GRCm39) |
missense |
probably benign |
0.04 |
R7071:Cntln
|
UTSW |
4 |
85,018,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R7113:Cntln
|
UTSW |
4 |
84,968,064 (GRCm39) |
missense |
probably damaging |
0.98 |
R7152:Cntln
|
UTSW |
4 |
84,802,937 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7253:Cntln
|
UTSW |
4 |
85,036,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R7289:Cntln
|
UTSW |
4 |
84,964,540 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7440:Cntln
|
UTSW |
4 |
84,981,453 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7670:Cntln
|
UTSW |
4 |
84,897,577 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7707:Cntln
|
UTSW |
4 |
84,802,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R7895:Cntln
|
UTSW |
4 |
84,981,561 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8176:Cntln
|
UTSW |
4 |
84,806,926 (GRCm39) |
missense |
probably damaging |
0.99 |
R8247:Cntln
|
UTSW |
4 |
85,019,017 (GRCm39) |
missense |
probably benign |
0.39 |
R8264:Cntln
|
UTSW |
4 |
85,016,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R8293:Cntln
|
UTSW |
4 |
84,952,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R8536:Cntln
|
UTSW |
4 |
84,875,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R8844:Cntln
|
UTSW |
4 |
84,892,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R8924:Cntln
|
UTSW |
4 |
84,806,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Cntln
|
UTSW |
4 |
84,986,110 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8960:Cntln
|
UTSW |
4 |
85,018,961 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8979:Cntln
|
UTSW |
4 |
85,048,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R9255:Cntln
|
UTSW |
4 |
85,019,103 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9314:Cntln
|
UTSW |
4 |
84,924,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R9353:Cntln
|
UTSW |
4 |
84,802,597 (GRCm39) |
unclassified |
probably benign |
|
R9361:Cntln
|
UTSW |
4 |
84,968,151 (GRCm39) |
missense |
probably benign |
0.23 |
R9376:Cntln
|
UTSW |
4 |
84,875,258 (GRCm39) |
missense |
probably benign |
0.24 |
R9382:Cntln
|
UTSW |
4 |
84,968,318 (GRCm39) |
missense |
probably benign |
0.13 |
R9471:Cntln
|
UTSW |
4 |
84,968,019 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9478:Cntln
|
UTSW |
4 |
84,897,630 (GRCm39) |
missense |
probably benign |
0.00 |
R9527:Cntln
|
UTSW |
4 |
84,892,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R9788:Cntln
|
UTSW |
4 |
84,968,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R9793:Cntln
|
UTSW |
4 |
84,985,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCATGTAGATGTGAAAGCAATGGTC -3'
(R):5'- TGTTGCAAGACACCGAGAACATTAGG -3'
Sequencing Primer
(F):5'- CTGACACTAATTAAAACCTGGGAG -3'
(R):5'- GGTGGCCTCTATTGAACTAAATCAG -3'
|
Posted On |
2013-04-16 |