Incidental Mutation 'R6028:Cntln'
ID |
480161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntln
|
Ensembl Gene |
ENSMUSG00000038070 |
Gene Name |
centlein, centrosomal protein |
Synonyms |
D530005L17Rik, B430108F07Rik |
MMRRC Submission |
044200-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R6028 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
84802546-85050158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84889410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 298
(S298T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130491
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047023]
[ENSMUST00000169371]
|
AlphaFold |
A2AM05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047023
AA Change: S298T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000044138 Gene: ENSMUSG00000038070 AA Change: S298T
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 |
probably benign
Transcript: ENSMUST00000169371
AA Change: S298T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000130491 Gene: ENSMUSG00000038070 AA Change: S298T
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
T |
A |
3: 36,533,718 (GRCm39) |
|
probably null |
Het |
Acat1 |
A |
T |
9: 53,503,366 (GRCm39) |
Y158N |
probably damaging |
Het |
Adamtsl1 |
C |
A |
4: 86,260,561 (GRCm39) |
A924E |
probably damaging |
Het |
Adck1 |
A |
T |
12: 88,368,902 (GRCm39) |
M127L |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alad |
G |
T |
4: 62,428,359 (GRCm39) |
T305K |
probably benign |
Het |
Ankrd33 |
T |
C |
15: 101,016,953 (GRCm39) |
F65S |
probably damaging |
Het |
Ap3d1 |
T |
C |
10: 80,558,761 (GRCm39) |
N281S |
possibly damaging |
Het |
Arhgap30 |
A |
G |
1: 171,235,888 (GRCm39) |
D754G |
probably benign |
Het |
Asah2 |
T |
C |
19: 31,993,914 (GRCm39) |
D438G |
probably damaging |
Het |
Cachd1 |
C |
A |
4: 100,840,753 (GRCm39) |
N905K |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,370,314 (GRCm39) |
D160E |
probably damaging |
Het |
Cplx3 |
A |
G |
9: 57,515,546 (GRCm39) |
I443T |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,387,979 (GRCm39) |
M3146K |
probably damaging |
Het |
Doc2b |
C |
A |
11: 75,663,412 (GRCm39) |
A347S |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,660,481 (GRCm39) |
|
probably null |
Het |
Eif1ad16 |
A |
T |
12: 87,985,131 (GRCm39) |
D137E |
possibly damaging |
Het |
Eps8l2 |
T |
C |
7: 140,937,746 (GRCm39) |
F422S |
possibly damaging |
Het |
Esm1 |
A |
G |
13: 113,353,201 (GRCm39) |
N161S |
possibly damaging |
Het |
Fbxw10 |
C |
T |
11: 62,764,345 (GRCm39) |
Q671* |
probably null |
Het |
Fnbp4 |
C |
A |
2: 90,581,478 (GRCm39) |
T177K |
probably benign |
Het |
Gpr137c |
C |
A |
14: 45,514,938 (GRCm39) |
Q266K |
probably damaging |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hk1 |
C |
A |
10: 62,188,837 (GRCm39) |
K25N |
probably null |
Het |
Klhl29 |
G |
T |
12: 5,140,995 (GRCm39) |
Y616* |
probably null |
Het |
Lmnb1 |
T |
G |
18: 56,876,348 (GRCm39) |
Y485* |
probably null |
Het |
Lrrc63 |
A |
G |
14: 75,323,614 (GRCm39) |
S537P |
possibly damaging |
Het |
Ltbp2 |
T |
A |
12: 84,831,626 (GRCm39) |
N1686I |
probably damaging |
Het |
Map9 |
T |
A |
3: 82,287,555 (GRCm39) |
|
probably null |
Het |
Marco |
T |
A |
1: 120,418,671 (GRCm39) |
Q194L |
probably damaging |
Het |
Mc3r |
A |
T |
2: 172,091,129 (GRCm39) |
D117V |
probably damaging |
Het |
Meltf |
T |
A |
16: 31,706,294 (GRCm39) |
D259E |
possibly damaging |
Het |
Mical1 |
A |
T |
10: 41,362,873 (GRCm39) |
M973L |
probably benign |
Het |
Mmp21 |
T |
C |
7: 133,280,443 (GRCm39) |
T176A |
probably benign |
Het |
Mterf1b |
T |
A |
5: 4,247,666 (GRCm39) |
|
probably null |
Het |
Muc16 |
G |
A |
9: 18,568,472 (GRCm39) |
S1349F |
unknown |
Het |
Nacc2 |
A |
G |
2: 25,951,590 (GRCm39) |
V415A |
probably damaging |
Het |
Ncl |
A |
G |
1: 86,283,855 (GRCm39) |
V322A |
probably benign |
Het |
Neb |
G |
A |
2: 52,083,243 (GRCm39) |
T1639I |
probably damaging |
Het |
Nfia |
A |
G |
4: 97,999,488 (GRCm39) |
H485R |
possibly damaging |
Het |
Nlrp9a |
C |
T |
7: 26,257,762 (GRCm39) |
T460I |
probably benign |
Het |
Or8g24 |
T |
A |
9: 38,989,379 (GRCm39) |
I221F |
probably damaging |
Het |
Or8k32 |
T |
A |
2: 86,369,113 (GRCm39) |
I49F |
possibly damaging |
Het |
Patl2 |
T |
A |
2: 121,956,618 (GRCm39) |
Q158L |
possibly damaging |
Het |
Pja2 |
T |
C |
17: 64,616,085 (GRCm39) |
D270G |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,786,267 (GRCm39) |
H1929R |
probably benign |
Het |
Plekhh3 |
A |
T |
11: 101,057,396 (GRCm39) |
M287K |
probably damaging |
Het |
Polb |
G |
T |
8: 23,130,011 (GRCm39) |
S187* |
probably null |
Het |
Popdc3 |
A |
G |
10: 45,194,015 (GRCm39) |
D272G |
probably benign |
Het |
Prkar2b |
A |
T |
12: 32,043,757 (GRCm39) |
D121E |
possibly damaging |
Het |
Psmd3 |
T |
A |
11: 98,576,491 (GRCm39) |
L131Q |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,875,392 (GRCm39) |
C197S |
probably damaging |
Het |
Ptprf |
A |
T |
4: 118,070,826 (GRCm39) |
V1391D |
probably benign |
Het |
Purb |
A |
G |
11: 6,425,150 (GRCm39) |
F246S |
probably damaging |
Het |
Rgs8 |
C |
A |
1: 153,566,734 (GRCm39) |
T95N |
probably damaging |
Het |
Slc2a13 |
T |
C |
15: 91,160,319 (GRCm39) |
N545S |
probably damaging |
Het |
Smpd2 |
A |
G |
10: 41,365,344 (GRCm39) |
W51R |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,664,635 (GRCm39) |
Q490R |
probably null |
Het |
Strbp |
G |
A |
2: 37,515,267 (GRCm39) |
T253I |
probably damaging |
Het |
Sult1d1 |
A |
T |
5: 87,707,685 (GRCm39) |
M145K |
probably damaging |
Het |
Taf5l |
A |
C |
8: 124,729,714 (GRCm39) |
|
probably null |
Het |
Tas2r131 |
T |
G |
6: 132,934,639 (GRCm39) |
I57L |
probably benign |
Het |
Tcf25 |
A |
G |
8: 124,108,176 (GRCm39) |
N77S |
possibly damaging |
Het |
Tmem253 |
A |
G |
14: 52,255,268 (GRCm39) |
T57A |
possibly damaging |
Het |
Tspan17 |
A |
G |
13: 54,941,111 (GRCm39) |
N130S |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,530,460 (GRCm39) |
S2118G |
probably benign |
Het |
Vmn2r3 |
T |
A |
3: 64,182,698 (GRCm39) |
T334S |
probably benign |
Het |
Wnk2 |
G |
T |
13: 49,229,821 (GRCm39) |
A901E |
probably damaging |
Het |
Zc3hav1 |
T |
C |
6: 38,284,275 (GRCm39) |
T947A |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,520,135 (GRCm39) |
P419L |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,819,549 (GRCm39) |
S258P |
probably damaging |
Het |
Zfp964 |
A |
G |
8: 70,116,563 (GRCm39) |
T388A |
unknown |
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 |
R0324:Cntln
|
UTSW |
4 |
85,010,932 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- TGTAGTTAAGTGTCTAGCAGGATAC -3'
(R):5'- CTAACTAGTGCCGCTTTAGTCAC -3'
Sequencing Primer
(F):5'- TACAGAGATGAATCCTGTACATTCCC -3'
(R):5'- GCCTATGGGAGACATACTGTTATC -3'
|
Posted On |
2017-06-26 |