Incidental Mutation 'R8176:Cntln'
| ID |
634336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntln
|
| Ensembl Gene |
ENSMUSG00000038070 |
| Gene Name |
centlein, centrosomal protein |
| Synonyms |
D530005L17Rik, B430108F07Rik |
| MMRRC Submission |
067601-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R8176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
84802546-85050158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84806926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 136
(T136I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047023]
[ENSMUST00000102819]
[ENSMUST00000169371]
|
| AlphaFold |
A2AM05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047023
AA Change: T136I
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: T136I
| 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 damaging
Transcript: ENSMUST00000102819
AA Change: T136I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099883
Gene: ENSMUSG00000038070
AA Change: T136I
| 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 |
|
coiled coil region
|
166 |
277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169371
AA Change: T136I
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: T136I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
T |
A |
12: 31,235,135 (GRCm39) |
F172I |
noncoding transcript |
Het |
| Aatk |
A |
G |
11: 119,907,241 (GRCm39) |
V154A |
probably damaging |
Het |
| Abca6 |
A |
C |
11: 110,135,020 (GRCm39) |
V255G |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,568,786 (GRCm39) |
K211E |
probably benign |
Het |
| Alg12 |
A |
G |
15: 88,690,084 (GRCm39) |
V470A |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 89,905,353 (GRCm39) |
H231Q |
probably damaging |
Het |
| Bcl2 |
T |
C |
1: 106,640,528 (GRCm39) |
Y28C |
probably damaging |
Het |
| Bms1 |
G |
T |
6: 118,395,411 (GRCm39) |
F45L |
probably damaging |
Het |
| Btd |
T |
A |
14: 31,384,073 (GRCm39) |
F20I |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,844 (GRCm39) |
S51P |
probably benign |
Het |
| Capn7 |
C |
A |
14: 31,069,729 (GRCm39) |
F184L |
probably benign |
Het |
| Cd300lg |
A |
T |
11: 101,932,390 (GRCm39) |
|
probably benign |
Het |
| Cdc34 |
T |
C |
10: 79,518,362 (GRCm39) |
Y39H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,935,851 (GRCm39) |
K429E |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,784,114 (GRCm39) |
N473S |
probably benign |
Het |
| Cyfip1 |
A |
T |
7: 55,574,175 (GRCm39) |
L1032F |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,153,916 (GRCm39) |
V392I |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,484,598 (GRCm39) |
S1590L |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,376,786 (GRCm39) |
Y1524H |
possibly damaging |
Het |
| Dusp13b |
T |
C |
14: 21,797,549 (GRCm39) |
I103V |
possibly damaging |
Het |
| Eeig1 |
A |
G |
2: 32,453,624 (GRCm39) |
T158A |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,707,874 (GRCm39) |
Y763C |
probably damaging |
Het |
| Fam117a |
G |
T |
11: 95,227,965 (GRCm39) |
R25L |
unknown |
Het |
| Fcgbp |
T |
C |
7: 27,791,174 (GRCm39) |
S812P |
possibly damaging |
Het |
| Fgd5 |
T |
A |
6: 91,964,965 (GRCm39) |
N399K |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,017 (GRCm39) |
I168N |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,562,761 (GRCm39) |
I582K |
possibly damaging |
Het |
| Gm21915 |
T |
A |
9: 40,582,266 (GRCm39) |
S120T |
probably benign |
Het |
| Gtf3c5 |
A |
G |
2: 28,460,429 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
A |
T |
13: 14,422,286 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
A |
10: 57,381,290 (GRCm39) |
Y293* |
probably null |
Het |
| Ints10 |
T |
A |
8: 69,255,603 (GRCm39) |
Y198N |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,001,957 (GRCm39) |
E399G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,645,597 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,285,122 (GRCm39) |
S1031P |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,597,387 (GRCm39) |
T279A |
probably benign |
Het |
| Ly6a |
C |
T |
15: 74,868,300 (GRCm39) |
|
probably null |
Het |
| Marchf4 |
T |
C |
1: 72,573,998 (GRCm39) |
E100G |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,084,456 (GRCm39) |
E84G |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,467,886 (GRCm39) |
Y808C |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,317,858 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,126,977 (GRCm39) |
S428P |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,931 (GRCm39) |
T161S |
possibly damaging |
Het |
| Or10j27 |
C |
T |
1: 172,958,383 (GRCm39) |
V134I |
probably benign |
Het |
| Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
| Or6c5 |
T |
G |
10: 129,074,747 (GRCm39) |
M243R |
probably benign |
Het |
| Pdp2 |
A |
G |
8: 105,321,687 (GRCm39) |
D512G |
probably damaging |
Het |
| Pex11b |
G |
T |
3: 96,551,027 (GRCm39) |
V171L |
probably benign |
Het |
| Potefam2 |
T |
C |
7: 62,432,783 (GRCm39) |
|
probably null |
Het |
| Ppil3 |
A |
T |
1: 58,480,078 (GRCm39) |
C32* |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,095,656 (GRCm39) |
Y387H |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,605 (GRCm39) |
H518N |
possibly damaging |
Het |
| Rhot2 |
T |
C |
17: 26,063,068 (GRCm39) |
Y58C |
probably damaging |
Het |
| Sec16b |
C |
A |
1: 157,362,981 (GRCm39) |
H271N |
probably damaging |
Het |
| Sgo2a |
A |
G |
1: 58,056,252 (GRCm39) |
D812G |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,884,878 (GRCm39) |
E261G |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,865,117 (GRCm39) |
N755S |
probably benign |
Het |
| Stat5a |
T |
A |
11: 100,767,689 (GRCm39) |
M419K |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,270,465 (GRCm39) |
C1281Y |
probably damaging |
Het |
| Tm9sf2 |
T |
G |
14: 122,374,913 (GRCm39) |
S196R |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,292,837 (GRCm39) |
H946L |
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 |
|
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'- ACATTAGAGTGTAGGCTTTCAGTG -3'
(R):5'- TTGTGCTTGACAGTCACTTAGAAG -3'
Sequencing Primer
(F):5'- GAAGAGCGCCAAGTGTTCTTATCC -3'
(R):5'- AAGTAAATCAATCTTTTGGGGGCG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation