Incidental Mutation 'R8979:Cntln'
ID |
683618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntln
|
Ensembl Gene |
ENSMUSG00000038070 |
Gene Name |
centlein, centrosomal protein |
Synonyms |
D530005L17Rik, B430108F07Rik |
MMRRC Submission |
068812-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
R8979 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
84802546-85050158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85048910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 240
(V240E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047023]
[ENSMUST00000107190]
[ENSMUST00000169371]
|
AlphaFold |
A2AM05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047023
AA Change: V1375E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044138 Gene: ENSMUSG00000038070 AA Change: V1375E
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: ENSMUST00000107190
AA Change: V240E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102808 Gene: ENSMUSG00000038070 AA Change: V240E
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 damaging
Transcript: ENSMUST00000169371
AA Change: V1374E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130491 Gene: ENSMUSG00000038070 AA Change: V1374E
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 |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
C |
3: 59,932,545 (GRCm39) |
R353S |
probably damaging |
Het |
Ablim3 |
C |
T |
18: 61,982,397 (GRCm39) |
V183I |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,527,115 (GRCm39) |
Q607L |
probably benign |
Het |
Adgrl1 |
A |
G |
8: 84,665,015 (GRCm39) |
D1234G |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,598,009 (GRCm39) |
Y945C |
probably damaging |
Het |
Arhgef26 |
T |
A |
3: 62,246,969 (GRCm39) |
W18R |
possibly damaging |
Het |
Caskin1 |
G |
T |
17: 24,717,899 (GRCm39) |
A229S |
possibly damaging |
Het |
Celsr1 |
A |
T |
15: 85,847,340 (GRCm39) |
S1466T |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,227,947 (GRCm39) |
Y380H |
probably benign |
Het |
Ciapin1 |
A |
T |
8: 95,549,753 (GRCm39) |
L301Q |
probably damaging |
Het |
Clec1b |
A |
G |
6: 129,380,537 (GRCm39) |
E151G |
probably benign |
Het |
Cngb1 |
G |
A |
8: 96,004,913 (GRCm39) |
|
probably benign |
Het |
Cog5 |
A |
G |
12: 31,840,894 (GRCm39) |
T240A |
probably benign |
Het |
Col5a3 |
G |
A |
9: 20,686,597 (GRCm39) |
P1343S |
unknown |
Het |
Cspp1 |
T |
A |
1: 10,134,630 (GRCm39) |
S127T |
probably benign |
Het |
Dnah9 |
T |
G |
11: 65,895,978 (GRCm39) |
M2466L |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
Fbxw13 |
A |
T |
9: 109,013,197 (GRCm39) |
W247R |
probably damaging |
Het |
Gbp4 |
G |
A |
5: 105,267,248 (GRCm39) |
T557M |
probably benign |
Het |
Ide |
G |
A |
19: 37,302,711 (GRCm39) |
A133V |
|
Het |
Il2rb |
C |
A |
15: 78,376,052 (GRCm39) |
|
probably benign |
Het |
Itgb1 |
A |
G |
8: 129,448,951 (GRCm39) |
E519G |
probably benign |
Het |
Kifc1 |
A |
G |
17: 34,102,228 (GRCm39) |
Y462H |
possibly damaging |
Het |
Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
Llgl1 |
C |
T |
11: 60,601,129 (GRCm39) |
A689V |
probably benign |
Het |
Lrrc37a |
C |
A |
11: 103,393,833 (GRCm39) |
V531L |
possibly damaging |
Het |
Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
Mid1 |
G |
A |
X: 168,768,009 (GRCm39) |
A386T |
probably benign |
Het |
Mms22l |
C |
T |
4: 24,580,070 (GRCm39) |
L760F |
probably benign |
Het |
Mplkipl1 |
A |
G |
19: 61,164,169 (GRCm39) |
Y89H |
probably damaging |
Het |
Mst1r |
C |
T |
9: 107,792,478 (GRCm39) |
R951C |
probably damaging |
Het |
Naalad2 |
G |
A |
9: 18,242,146 (GRCm39) |
T586M |
probably damaging |
Het |
Or4c108 |
C |
T |
2: 88,804,173 (GRCm39) |
V21I |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,011,169 (GRCm39) |
N363S |
probably benign |
Het |
Padi6 |
T |
G |
4: 140,466,474 (GRCm39) |
N145T |
probably benign |
Het |
Plcl2 |
T |
A |
17: 50,947,145 (GRCm39) |
M1008K |
possibly damaging |
Het |
Plekha5 |
T |
C |
6: 140,496,818 (GRCm39) |
S435P |
probably damaging |
Het |
Prkacb |
C |
A |
3: 146,518,411 (GRCm39) |
G10C |
probably benign |
Het |
Psg29 |
A |
T |
7: 16,937,544 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
Ptpro |
A |
G |
6: 137,345,140 (GRCm39) |
I49V |
probably benign |
Het |
Rassf1 |
A |
G |
9: 107,429,004 (GRCm39) |
D70G |
probably benign |
Het |
Rbm24 |
A |
T |
13: 46,572,531 (GRCm39) |
T9S |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,218,937 (GRCm39) |
T948A |
unknown |
Het |
Ryr2 |
A |
T |
13: 11,609,924 (GRCm39) |
C4301S |
probably benign |
Het |
S100pbp |
T |
C |
4: 129,076,133 (GRCm39) |
D64G |
probably damaging |
Het |
Samd3 |
A |
G |
10: 26,120,428 (GRCm39) |
K141E |
possibly damaging |
Het |
Scgb1b29 |
A |
T |
7: 32,141,277 (GRCm39) |
K65* |
probably null |
Het |
Shoc1 |
T |
C |
4: 59,047,276 (GRCm39) |
T1448A |
possibly damaging |
Het |
Slc51b |
T |
C |
9: 65,320,210 (GRCm39) |
N86D |
probably benign |
Het |
Slc6a3 |
G |
A |
13: 73,715,720 (GRCm39) |
V452I |
probably benign |
Het |
Sobp |
A |
G |
10: 42,896,976 (GRCm39) |
|
probably null |
Het |
Spats2 |
T |
C |
15: 99,110,123 (GRCm39) |
S507P |
possibly damaging |
Het |
Spns3 |
C |
T |
11: 72,420,416 (GRCm39) |
A357T |
probably damaging |
Het |
Suox |
A |
T |
10: 128,507,367 (GRCm39) |
H220Q |
probably damaging |
Het |
Tbc1d9b |
A |
T |
11: 50,061,809 (GRCm39) |
S1106C |
probably benign |
Het |
Tbx1 |
T |
C |
16: 18,406,745 (GRCm39) |
D9G |
unknown |
Het |
Tcaf2 |
A |
T |
6: 42,601,404 (GRCm39) |
F885Y |
probably damaging |
Het |
Tgoln1 |
T |
C |
6: 72,593,262 (GRCm39) |
T73A |
probably benign |
Het |
Tigd3 |
G |
A |
19: 5,941,853 (GRCm39) |
P426S |
probably benign |
Het |
Tmem233 |
T |
A |
5: 116,221,260 (GRCm39) |
|
probably benign |
Het |
Tnfrsf11a |
A |
G |
1: 105,754,825 (GRCm39) |
D299G |
possibly damaging |
Het |
Trim32 |
T |
C |
4: 65,531,692 (GRCm39) |
V83A |
possibly damaging |
Het |
Unc13a |
A |
T |
8: 72,113,125 (GRCm39) |
M242K |
probably benign |
Het |
Vat1 |
C |
T |
11: 101,353,041 (GRCm39) |
G293D |
probably damaging |
Het |
Vmn1r174 |
T |
A |
7: 23,453,892 (GRCm39) |
V186D |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 102,096,764 (GRCm39) |
Y345H |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,766,003 (GRCm39) |
T1510I |
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 |
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'- TAGGGTCCCATTATGACTTGAAAG -3'
(R):5'- TTATTTGGCTGGAGCTGCCC -3'
Sequencing Primer
(F):5'- GTCAGATGACAACTTTAGTCATCCG -3'
(R):5'- TGGAGCTGCCCATTGCTAG -3'
|
Posted On |
2021-10-11 |