Incidental Mutation 'R8247:Cntln'
ID |
640690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntln
|
Ensembl Gene |
ENSMUSG00000038070 |
Gene Name |
centlein, centrosomal protein |
Synonyms |
D530005L17Rik, B430108F07Rik |
MMRRC Submission |
067674-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
R8247 (G1)
|
Quality Score |
215.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
84802546-85050158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85019017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 102
(T102A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047023]
[ENSMUST00000107190]
[ENSMUST00000169371]
|
AlphaFold |
A2AM05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047023
AA Change: T1237A
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000044138 Gene: ENSMUSG00000038070 AA Change: T1237A
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: ENSMUST00000107190
AA Change: T102A
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102808 Gene: ENSMUSG00000038070 AA Change: T102A
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
Blast:HisKA
|
135 |
191 |
8e-27 |
BLAST |
low complexity region
|
192 |
213 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169371
AA Change: T1236A
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000130491 Gene: ENSMUSG00000038070 AA Change: T1236A
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 |
0.0703 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
T |
C |
6: 52,155,942 (GRCm39) |
S3P |
unknown |
Het |
Abca15 |
A |
T |
7: 119,936,445 (GRCm39) |
Y170F |
possibly damaging |
Het |
Alpl |
C |
T |
4: 137,473,764 (GRCm39) |
V313M |
probably damaging |
Het |
Ankrd44 |
T |
C |
1: 54,792,102 (GRCm39) |
H311R |
probably damaging |
Het |
Atm |
A |
T |
9: 53,361,870 (GRCm39) |
L2749Q |
|
Het |
Bicd2 |
C |
T |
13: 49,533,462 (GRCm39) |
R683W |
probably damaging |
Het |
Brat1 |
C |
A |
5: 140,698,893 (GRCm39) |
P342T |
possibly damaging |
Het |
Camta1 |
T |
A |
4: 151,159,721 (GRCm39) |
T482S |
probably damaging |
Het |
Carhsp1 |
A |
G |
16: 8,481,535 (GRCm39) |
V67A |
probably damaging |
Het |
Carmil1 |
T |
A |
13: 24,282,998 (GRCm39) |
N512I |
probably damaging |
Het |
Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
Cd274 |
C |
T |
19: 29,362,795 (GRCm39) |
Q286* |
probably null |
Het |
Cep192 |
T |
A |
18: 67,974,188 (GRCm39) |
I1097N |
probably benign |
Het |
Cimip4 |
A |
C |
15: 78,262,992 (GRCm39) |
S221A |
probably benign |
Het |
Clvs1 |
A |
T |
4: 9,281,885 (GRCm39) |
N110Y |
possibly damaging |
Het |
Cp |
A |
C |
3: 20,020,570 (GRCm39) |
I188L |
possibly damaging |
Het |
Crh |
A |
G |
3: 19,748,291 (GRCm39) |
L117P |
probably benign |
Het |
Dcaf1 |
A |
T |
9: 106,731,427 (GRCm39) |
I635F |
possibly damaging |
Het |
Dennd2c |
A |
G |
3: 103,059,637 (GRCm39) |
D521G |
probably damaging |
Het |
E2f2 |
C |
T |
4: 135,900,126 (GRCm39) |
T12M |
possibly damaging |
Het |
Eid2 |
G |
A |
7: 27,967,972 (GRCm39) |
R198H |
probably damaging |
Het |
Exosc4 |
G |
T |
15: 76,213,279 (GRCm39) |
C74F |
probably damaging |
Het |
Fanca |
A |
T |
8: 124,010,694 (GRCm39) |
|
probably benign |
Het |
Ganc |
A |
T |
2: 120,267,181 (GRCm39) |
Q499L |
probably null |
Het |
Gfy |
T |
C |
7: 44,827,710 (GRCm39) |
T129A |
possibly damaging |
Het |
Gli3 |
G |
T |
13: 15,901,360 (GRCm39) |
M1582I |
possibly damaging |
Het |
Gm4744 |
A |
G |
6: 40,926,402 (GRCm39) |
S63P |
|
Het |
Htr2b |
T |
C |
1: 86,027,817 (GRCm39) |
T230A |
probably benign |
Het |
Iqcb1 |
T |
A |
16: 36,678,836 (GRCm39) |
N383K |
probably benign |
Het |
Lpcat1 |
A |
T |
13: 73,662,071 (GRCm39) |
I471F |
probably damaging |
Het |
Lrch3 |
T |
G |
16: 32,829,713 (GRCm39) |
L781* |
probably null |
Het |
Lrif1 |
T |
A |
3: 106,641,692 (GRCm39) |
S3T |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,261,431 (GRCm39) |
R4503S |
possibly damaging |
Het |
Lrrc8c |
T |
C |
5: 105,756,310 (GRCm39) |
I695T |
probably damaging |
Het |
Mak |
G |
A |
13: 41,193,146 (GRCm39) |
T473M |
possibly damaging |
Het |
Map2k5 |
A |
T |
9: 63,279,019 (GRCm39) |
Y62N |
probably damaging |
Het |
Mbd3l2 |
T |
C |
9: 18,356,299 (GRCm39) |
L208P |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,840,062 (GRCm39) |
E2577G |
probably damaging |
Het |
Nfia |
A |
T |
4: 97,953,644 (GRCm39) |
T461S |
probably benign |
Het |
Oaz3 |
A |
G |
3: 94,343,741 (GRCm39) |
Y41H |
probably damaging |
Het |
Or10ab5 |
T |
A |
7: 108,245,370 (GRCm39) |
I138F |
probably damaging |
Het |
Or1p1 |
C |
A |
11: 74,180,315 (GRCm39) |
T281K |
noncoding transcript |
Het |
Or2ad1 |
A |
G |
13: 21,326,295 (GRCm39) |
S311P |
probably benign |
Het |
Or51m1 |
T |
C |
7: 103,578,783 (GRCm39) |
V251A |
possibly damaging |
Het |
Pin1rt1 |
T |
C |
2: 104,544,892 (GRCm39) |
E80G |
probably damaging |
Het |
Pmpcb |
T |
C |
5: 21,961,852 (GRCm39) |
Y457H |
probably damaging |
Het |
Polr2b |
T |
C |
5: 77,468,062 (GRCm39) |
S121P |
possibly damaging |
Het |
Ppm1e |
C |
T |
11: 87,122,101 (GRCm39) |
G619R |
probably benign |
Het |
Pramel5 |
T |
A |
4: 143,999,395 (GRCm39) |
M231L |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,270,194 (GRCm39) |
C1293F |
probably benign |
Het |
Psg20 |
A |
G |
7: 18,416,562 (GRCm39) |
F185L |
probably benign |
Het |
Psg28 |
A |
G |
7: 18,156,864 (GRCm39) |
V457A |
probably benign |
Het |
Pxmp2 |
A |
G |
5: 110,422,445 (GRCm39) |
L188P |
probably damaging |
Het |
Scd3 |
A |
T |
19: 44,227,003 (GRCm39) |
N279I |
possibly damaging |
Het |
Scg2 |
T |
G |
1: 79,414,236 (GRCm39) |
K162N |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,149,372 (GRCm39) |
E1629G |
probably benign |
Het |
Slc27a2 |
T |
A |
2: 126,395,515 (GRCm39) |
F147L |
probably benign |
Het |
Smco1 |
T |
C |
16: 32,092,557 (GRCm39) |
V76A |
probably benign |
Het |
Spic |
T |
C |
10: 88,511,923 (GRCm39) |
K111R |
probably damaging |
Het |
Spidr |
A |
G |
16: 15,786,390 (GRCm39) |
|
probably null |
Het |
Sptbn1 |
T |
A |
11: 30,063,906 (GRCm39) |
I1971F |
possibly damaging |
Het |
Stard8 |
C |
T |
X: 98,109,570 (GRCm39) |
S155L |
probably benign |
Het |
Tiam1 |
G |
A |
16: 89,695,037 (GRCm39) |
T140M |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Ufl1 |
T |
C |
4: 25,250,606 (GRCm39) |
E749G |
probably benign |
Het |
Vmn1r168 |
G |
T |
7: 23,240,487 (GRCm39) |
V115F |
possibly damaging |
Het |
Wars2 |
G |
A |
3: 99,094,965 (GRCm39) |
V87I |
probably benign |
Het |
Zdhhc14 |
T |
A |
17: 5,736,031 (GRCm39) |
C170S |
probably damaging |
Het |
Zfp113 |
C |
T |
5: 138,143,296 (GRCm39) |
C318Y |
possibly damaging |
Het |
Zfp367 |
A |
G |
13: 64,300,482 (GRCm39) |
S108P |
probably benign |
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 |
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 |
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'- CCAAATGAAAGTAGGTTGCACG -3'
(R):5'- AGTGAGGTCGTCTCTATGCAG -3'
Sequencing Primer
(F):5'- GTTGCACGTATAGAACAATGCAGTC -3'
(R):5'- GAGGTCGTCTCTATGCAGTAACATC -3'
|
Posted On |
2020-07-28 |