Incidental Mutation 'R0519:Cntln'
ID |
48374 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntln
|
Ensembl Gene |
ENSMUSG00000038070 |
Gene Name |
centlein, centrosomal protein |
Synonyms |
D530005L17Rik, B430108F07Rik |
MMRRC Submission |
038712-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
R0519 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
84802546-85050158 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 84923290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130491
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047023]
[ENSMUST00000169371]
|
AlphaFold |
A2AM05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047023
|
SMART Domains |
Protein: ENSMUSP00000044138 Gene: ENSMUSG00000038070
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
|
SMART Domains |
Protein: ENSMUSP00000130491 Gene: ENSMUSG00000038070
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: 99.6%
- 3x: 98.8%
- 10x: 96.6%
- 20x: 93.2%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
G |
5: 107,696,067 (GRCm39) |
R168G |
probably benign |
Het |
2810004N23Rik |
C |
T |
8: 125,566,668 (GRCm39) |
G251R |
possibly damaging |
Het |
3425401B19Rik |
A |
G |
14: 32,384,919 (GRCm39) |
S349P |
possibly damaging |
Het |
Ackr4 |
A |
G |
9: 103,976,650 (GRCm39) |
V99A |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Asxl3 |
A |
G |
18: 22,656,577 (GRCm39) |
Q1529R |
possibly damaging |
Het |
Atg12 |
T |
C |
18: 46,874,477 (GRCm39) |
E46G |
probably benign |
Het |
Cdcp2 |
A |
G |
4: 106,964,389 (GRCm39) |
|
probably benign |
Het |
Clasrp |
A |
G |
7: 19,318,089 (GRCm39) |
|
probably benign |
Het |
Clip2 |
A |
G |
5: 134,545,005 (GRCm39) |
V383A |
probably benign |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Csmd2 |
A |
C |
4: 128,380,798 (GRCm39) |
Y2118S |
possibly damaging |
Het |
Dip2c |
T |
A |
13: 9,613,244 (GRCm39) |
V415E |
probably damaging |
Het |
Dpy19l2 |
C |
T |
9: 24,469,391 (GRCm39) |
R755Q |
probably benign |
Het |
Dsn1 |
A |
T |
2: 156,840,633 (GRCm39) |
|
probably benign |
Het |
Dtd2 |
T |
C |
12: 52,051,742 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
A |
G |
6: 6,027,399 (GRCm39) |
T602A |
probably benign |
Het |
Ercc6 |
A |
C |
14: 32,248,799 (GRCm39) |
D450A |
probably damaging |
Het |
Fgf12 |
A |
T |
16: 28,008,380 (GRCm39) |
V104D |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,888,870 (GRCm39) |
|
probably null |
Het |
Gcgr |
G |
T |
11: 120,426,982 (GRCm39) |
W88L |
probably damaging |
Het |
Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
Hapln1 |
A |
G |
13: 89,732,835 (GRCm39) |
|
probably benign |
Het |
Hmgn3 |
T |
C |
9: 82,994,301 (GRCm39) |
E40G |
probably damaging |
Het |
Hsdl1 |
G |
A |
8: 120,292,450 (GRCm39) |
A255V |
probably damaging |
Het |
Hyls1 |
T |
C |
9: 35,472,499 (GRCm39) |
K306E |
probably damaging |
Het |
Jcad |
C |
T |
18: 4,649,122 (GRCm39) |
|
probably benign |
Het |
Kif14 |
C |
A |
1: 136,396,885 (GRCm39) |
A397E |
probably damaging |
Het |
Lcmt2 |
A |
T |
2: 120,969,825 (GRCm39) |
|
probably null |
Het |
Lifr |
T |
C |
15: 7,207,061 (GRCm39) |
L524P |
probably damaging |
Het |
Ly6g6f |
T |
C |
17: 35,301,828 (GRCm39) |
K209E |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,365,113 (GRCm39) |
T1651I |
probably benign |
Het |
Mapk4 |
T |
C |
18: 74,103,392 (GRCm39) |
D39G |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,522 (GRCm39) |
M137V |
probably damaging |
Het |
Mcm10 |
G |
A |
2: 5,013,356 (GRCm39) |
S92L |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,828,383 (GRCm39) |
K265R |
possibly damaging |
Het |
Mxra7 |
A |
G |
11: 116,701,612 (GRCm39) |
|
probably null |
Het |
Neu3 |
G |
A |
7: 99,472,524 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,460,648 (GRCm39) |
T2395A |
probably benign |
Het |
Or1j1 |
T |
A |
2: 36,702,627 (GRCm39) |
H159L |
probably damaging |
Het |
Or5m9 |
A |
T |
2: 85,877,411 (GRCm39) |
Y195F |
probably benign |
Het |
Or6s1 |
T |
A |
14: 51,308,614 (GRCm39) |
I79F |
probably damaging |
Het |
Or7g34 |
A |
T |
9: 19,478,245 (GRCm39) |
I145N |
probably benign |
Het |
Osgepl1 |
T |
C |
1: 53,360,255 (GRCm39) |
V327A |
probably damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,649,085 (GRCm39) |
V738A |
possibly damaging |
Het |
Plekha8 |
A |
T |
6: 54,599,092 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
C |
10: 107,374,781 (GRCm39) |
|
probably benign |
Het |
Pus10 |
T |
A |
11: 23,661,201 (GRCm39) |
F263Y |
probably benign |
Het |
Rad54b |
A |
T |
4: 11,599,809 (GRCm39) |
I338F |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,585,498 (GRCm39) |
F756L |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,619,185 (GRCm39) |
L719P |
probably damaging |
Het |
Slc2a2 |
G |
A |
3: 28,772,965 (GRCm39) |
V253I |
possibly damaging |
Het |
Slc39a4 |
A |
T |
15: 76,499,338 (GRCm39) |
N192K |
probably benign |
Het |
Soat1 |
T |
A |
1: 156,268,816 (GRCm39) |
I245F |
probably damaging |
Het |
Sorcs2 |
G |
A |
5: 36,188,534 (GRCm39) |
A858V |
probably benign |
Het |
Tcim |
T |
C |
8: 24,928,651 (GRCm39) |
T88A |
possibly damaging |
Het |
Tecta |
G |
A |
9: 42,259,188 (GRCm39) |
|
probably benign |
Het |
Tgm5 |
C |
A |
2: 120,879,376 (GRCm39) |
L553F |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,952,669 (GRCm39) |
V1555A |
probably benign |
Het |
Tmem214 |
A |
C |
5: 31,027,012 (GRCm39) |
M1L |
probably null |
Het |
Togaram1 |
T |
C |
12: 65,012,776 (GRCm39) |
|
probably benign |
Het |
Topaz1 |
C |
A |
9: 122,578,544 (GRCm39) |
L485I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,548,626 (GRCm39) |
|
probably benign |
Het |
Ube2o |
A |
G |
11: 116,437,285 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
A |
12: 102,734,465 (GRCm39) |
D246E |
probably benign |
Het |
Vcpkmt |
T |
C |
12: 69,629,102 (GRCm39) |
D132G |
probably benign |
Het |
Vmn2r111 |
T |
A |
17: 22,792,102 (GRCm39) |
Q51H |
probably benign |
Het |
Vmn2r95 |
C |
T |
17: 18,659,765 (GRCm39) |
P170S |
probably damaging |
Het |
Zbtb38 |
A |
G |
9: 96,567,826 (GRCm39) |
I1086T |
probably damaging |
Het |
Zfp444 |
G |
A |
7: 6,191,172 (GRCm39) |
A118T |
probably benign |
Het |
Zp2 |
A |
G |
7: 119,737,372 (GRCm39) |
I272T |
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 |
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 |
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'- GGCTCAAGCAAGCCTGTTTGTTC -3'
(R):5'- AATCACCTTCTGCCAGTGACATCTG -3'
Sequencing Primer
(F):5'- CCAGTCATCCCTAGATGAGTG -3'
(R):5'- CTGCCAGTGACATCTGTAAATG -3'
|
Posted On |
2013-06-12 |