Incidental Mutation 'R9376:Cntln'
ID |
709609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntln
|
Ensembl Gene |
ENSMUSG00000038070 |
Gene Name |
centlein, centrosomal protein |
Synonyms |
D530005L17Rik, B430108F07Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
R9376 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
84802546-85050158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84875258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 231
(S231G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099883
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047023]
[ENSMUST00000102819]
[ENSMUST00000169371]
|
AlphaFold |
A2AM05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047023
AA Change: S231G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000044138 Gene: ENSMUSG00000038070 AA Change: S231G
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: ENSMUST00000102819
AA Change: S231G
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099883 Gene: ENSMUSG00000038070 AA Change: S231G
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 |
probably benign
Transcript: ENSMUST00000169371
AA Change: S231G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000130491 Gene: ENSMUSG00000038070 AA Change: S231G
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: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
A |
7: 119,893,438 (GRCm39) |
L1296H |
probably damaging |
Het |
Abcb4 |
A |
T |
5: 9,008,988 (GRCm39) |
D1215V |
probably damaging |
Het |
Ache |
A |
C |
5: 137,289,025 (GRCm39) |
I244L |
probably benign |
Het |
Ankrd13d |
A |
T |
19: 4,332,250 (GRCm39) |
V58D |
probably damaging |
Het |
Ano3 |
A |
G |
2: 110,496,782 (GRCm39) |
L789S |
probably damaging |
Het |
Atp2a3 |
T |
C |
11: 72,863,290 (GRCm39) |
V129A |
probably damaging |
Het |
Cldn11 |
T |
C |
3: 31,217,410 (GRCm39) |
S193P |
possibly damaging |
Het |
Clpb |
A |
T |
7: 101,360,625 (GRCm39) |
R218S |
probably benign |
Het |
Cntn4 |
T |
C |
6: 106,639,591 (GRCm39) |
Y574H |
probably damaging |
Het |
Col6a3 |
C |
T |
1: 90,709,523 (GRCm39) |
R2498H |
unknown |
Het |
Ctdnep1 |
T |
C |
11: 69,875,594 (GRCm39) |
V108A |
probably damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,627,178 (GRCm39) |
N217K |
probably damaging |
Het |
Dao |
T |
A |
5: 114,147,901 (GRCm39) |
M1K |
probably null |
Het |
Dchs1 |
A |
G |
7: 105,414,981 (GRCm39) |
|
probably null |
Het |
Dennd4a |
A |
T |
9: 64,819,974 (GRCm39) |
I1809L |
probably benign |
Het |
Dnah7a |
T |
A |
1: 53,568,058 (GRCm39) |
|
probably null |
Het |
Epn1 |
A |
T |
7: 5,086,720 (GRCm39) |
|
probably benign |
Het |
Erich1 |
A |
G |
8: 14,080,719 (GRCm39) |
S267P |
probably damaging |
Het |
Gm17732 |
G |
T |
18: 62,795,936 (GRCm39) |
V41L |
probably damaging |
Het |
Gpaa1 |
C |
A |
15: 76,218,826 (GRCm39) |
T556K |
possibly damaging |
Het |
Gpr65 |
T |
A |
12: 98,241,523 (GRCm39) |
S59T |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,124,695 (GRCm39) |
V568A |
possibly damaging |
Het |
Ifi205 |
T |
C |
1: 173,854,221 (GRCm39) |
D144G |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,107,112 (GRCm39) |
H993R |
probably benign |
Het |
Itgax |
T |
C |
7: 127,747,935 (GRCm39) |
L1075P |
possibly damaging |
Het |
Itpr1 |
T |
A |
6: 108,326,638 (GRCm39) |
V120E |
probably damaging |
Het |
Kdm3b |
T |
C |
18: 34,970,718 (GRCm39) |
S1762P |
probably damaging |
Het |
Krt80 |
T |
A |
15: 101,247,978 (GRCm39) |
T221S |
unknown |
Het |
Lama2 |
T |
C |
10: 26,994,620 (GRCm39) |
D1763G |
probably benign |
Het |
Lrp5 |
T |
C |
19: 3,670,286 (GRCm39) |
D606G |
probably benign |
Het |
Map6d1 |
T |
C |
16: 20,059,933 (GRCm39) |
D44G |
probably benign |
Het |
Mtmr11 |
T |
A |
3: 96,072,372 (GRCm39) |
I282K |
probably benign |
Het |
Nalcn |
G |
A |
14: 123,515,713 (GRCm39) |
T1696M |
possibly damaging |
Het |
Nup214 |
T |
C |
2: 31,924,244 (GRCm39) |
V1591A |
probably benign |
Het |
Oas1f |
C |
A |
5: 120,986,243 (GRCm39) |
Y65* |
probably null |
Het |
Or1x6 |
T |
A |
11: 50,939,662 (GRCm39) |
C243S |
probably damaging |
Het |
Or2t43 |
T |
A |
11: 58,457,683 (GRCm39) |
T163S |
possibly damaging |
Het |
Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
Or51f1e |
A |
T |
7: 102,746,971 (GRCm39) |
T8S |
probably benign |
Het |
Or5p58 |
A |
T |
7: 107,694,471 (GRCm39) |
I102K |
possibly damaging |
Het |
Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
Pigyl |
A |
G |
9: 22,069,324 (GRCm39) |
I12V |
probably benign |
Het |
Pno1 |
A |
T |
11: 17,158,791 (GRCm39) |
D202E |
probably benign |
Het |
Ppp5c |
A |
T |
7: 16,743,849 (GRCm39) |
M195K |
probably damaging |
Het |
Prrc2a |
A |
T |
17: 35,369,598 (GRCm39) |
F1905Y |
possibly damaging |
Het |
Ptpn11 |
C |
A |
5: 121,282,681 (GRCm39) |
D435Y |
probably damaging |
Het |
Rbm33 |
A |
G |
5: 28,544,164 (GRCm39) |
Y140C |
probably damaging |
Het |
Runx1t1 |
A |
G |
4: 13,865,225 (GRCm39) |
E339G |
possibly damaging |
Het |
Scube3 |
G |
T |
17: 28,383,670 (GRCm39) |
K480N |
possibly damaging |
Het |
Sephs1 |
T |
A |
2: 4,910,469 (GRCm39) |
M313K |
probably benign |
Het |
Tcaim |
T |
C |
9: 122,655,995 (GRCm39) |
W304R |
probably damaging |
Het |
Terf2ip |
C |
T |
8: 112,738,514 (GRCm39) |
T134I |
probably damaging |
Het |
Terf2ip |
A |
G |
8: 112,744,528 (GRCm39) |
T282A |
probably benign |
Het |
Tnfrsf18 |
G |
T |
4: 156,112,448 (GRCm39) |
A102S |
probably benign |
Het |
Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
Triqk |
A |
G |
4: 12,962,987 (GRCm39) |
T9A |
probably benign |
Het |
Tshz2 |
G |
A |
2: 169,726,013 (GRCm39) |
S203N |
probably benign |
Het |
Zc3h13 |
G |
A |
14: 75,561,128 (GRCm39) |
V573I |
unknown |
Het |
Zfhx4 |
A |
G |
3: 5,306,833 (GRCm39) |
K20E |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,465,395 (GRCm39) |
D1876G |
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 |
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 |
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'- ACCTGCATGAAAAGAGGGCC -3'
(R):5'- TCTTATATTCGGCTGCTGTAAGAAG -3'
Sequencing Primer
(F):5'- CCGATAAAGTACACAGGTGACCTTG -3'
(R):5'- GACAGCTCATGGACACAGGTC -3'
|
Posted On |
2022-04-18 |