Incidental Mutation 'R7293:Cep162'
| ID |
566566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
045398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R7293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87085836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1163
(T1163A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: T1163A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: T1163A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
coiled coil region
|
630 |
674 |
N/A |
INTRINSIC |
|
coiled coil region
|
695 |
899 |
N/A |
INTRINSIC |
|
coiled coil region
|
953 |
1124 |
N/A |
INTRINSIC |
|
coiled coil region
|
1235 |
1386 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,795,492 (GRCm39) |
G416E |
probably damaging |
Het |
| Acsl5 |
G |
T |
19: 55,279,642 (GRCm39) |
W460L |
probably damaging |
Het |
| Adam2 |
A |
G |
14: 66,272,634 (GRCm39) |
F614S |
probably benign |
Het |
| Adamts5 |
G |
A |
16: 85,696,833 (GRCm39) |
T108I |
probably benign |
Het |
| Agmat |
C |
T |
4: 141,483,246 (GRCm39) |
Q227* |
probably null |
Het |
| Alg11 |
A |
G |
8: 22,555,395 (GRCm39) |
N219D |
probably damaging |
Het |
| Amhr2 |
A |
G |
15: 102,355,828 (GRCm39) |
T258A |
probably benign |
Het |
| Ankrd53 |
A |
G |
6: 83,740,178 (GRCm39) |
E82G |
probably null |
Het |
| Blzf1 |
T |
A |
1: 164,123,452 (GRCm39) |
T292S |
possibly damaging |
Het |
| Capza1 |
T |
C |
3: 104,748,151 (GRCm39) |
D71G |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,488,873 (GRCm39) |
F770L |
probably benign |
Het |
| Cckbr |
A |
T |
7: 105,083,852 (GRCm39) |
Q260L |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,760,707 (GRCm39) |
S2151P |
unknown |
Het |
| Clk1 |
T |
A |
1: 58,453,772 (GRCm39) |
T301S |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,229,305 (GRCm39) |
S1928C |
possibly damaging |
Het |
| Col24a1 |
C |
T |
3: 145,192,059 (GRCm39) |
Q1273* |
probably null |
Het |
| Col4a4 |
T |
C |
1: 82,501,664 (GRCm39) |
D363G |
unknown |
Het |
| Copb1 |
A |
T |
7: 113,818,837 (GRCm39) |
M827K |
probably damaging |
Het |
| Crocc |
C |
T |
4: 140,770,867 (GRCm39) |
A351T |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,879,428 (GRCm39) |
T587A |
probably damaging |
Het |
| Csrnp3 |
A |
G |
2: 65,779,344 (GRCm39) |
R19G |
probably damaging |
Het |
| Cyb5rl |
T |
C |
4: 106,938,143 (GRCm39) |
I165T |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,820 (GRCm39) |
I1916N |
probably damaging |
Het |
| Dvl1 |
T |
C |
4: 155,940,625 (GRCm39) |
M415T |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,001,454 (GRCm39) |
S3845P |
possibly damaging |
Het |
| Eif3b |
A |
G |
5: 140,405,183 (GRCm39) |
Q23R |
probably benign |
Het |
| Esam |
G |
T |
9: 37,449,020 (GRCm39) |
R376L |
probably damaging |
Het |
| Fat3 |
G |
C |
9: 15,826,336 (GRCm39) |
H391D |
|
Het |
| Fat3 |
A |
C |
9: 15,826,592 (GRCm39) |
S305R |
|
Het |
| Fgd3 |
T |
C |
13: 49,418,134 (GRCm39) |
D644G |
probably benign |
Het |
| Fgf7 |
T |
C |
2: 125,877,672 (GRCm39) |
L13P |
probably damaging |
Het |
| Gas2l1 |
A |
G |
11: 5,014,338 (GRCm39) |
Y41H |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,895,375 (GRCm39) |
I812N |
probably damaging |
Het |
| Glp1r |
C |
T |
17: 31,143,599 (GRCm39) |
H212Y |
probably benign |
Het |
| Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
| Gpr158 |
G |
A |
2: 21,581,750 (GRCm39) |
V410I |
possibly damaging |
Het |
| Ighv1-53 |
A |
T |
12: 115,122,441 (GRCm39) |
C5* |
probably null |
Het |
| Itgb2l |
A |
C |
16: 96,227,996 (GRCm39) |
Y502* |
probably null |
Het |
| Jakmip1 |
G |
A |
5: 37,284,817 (GRCm39) |
V635I |
probably benign |
Het |
| Kplce |
A |
T |
3: 92,776,126 (GRCm39) |
C186S |
probably benign |
Het |
| Krt23 |
C |
T |
11: 99,374,682 (GRCm39) |
M270I |
probably benign |
Het |
| Larp1b |
C |
T |
3: 40,939,879 (GRCm39) |
A344V |
|
Het |
| Lin28b |
T |
C |
10: 45,295,282 (GRCm39) |
M134V |
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,526,627 (GRCm39) |
Y310F |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,854,822 (GRCm39) |
D2397E |
probably benign |
Het |
| Map6 |
A |
G |
7: 98,985,740 (GRCm39) |
N751S |
possibly damaging |
Het |
| Mgrn1 |
G |
A |
16: 4,750,084 (GRCm39) |
D494N |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,184,631 (GRCm39) |
F1567L |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,778,549 (GRCm39) |
V461A |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,567,861 (GRCm39) |
S84T |
probably damaging |
Het |
| Nlrp9a |
G |
A |
7: 26,270,694 (GRCm39) |
C908Y |
probably damaging |
Het |
| Or4c3 |
A |
T |
2: 89,851,871 (GRCm39) |
Y180N |
probably damaging |
Het |
| Or4f4b |
A |
G |
2: 111,313,699 (GRCm39) |
|
probably null |
Het |
| Or52n20 |
T |
A |
7: 104,319,925 (GRCm39) |
N5K |
probably damaging |
Het |
| Or8g31-ps1 |
A |
T |
9: 39,276,130 (GRCm39) |
M92L |
probably benign |
Het |
| Parp4 |
CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC |
CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC |
14: 56,885,303 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
C |
A |
3: 28,141,435 (GRCm39) |
T666K |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
| Pramel7 |
A |
C |
2: 87,322,706 (GRCm39) |
N19K |
probably benign |
Het |
| Prh1 |
C |
G |
6: 132,548,721 (GRCm39) |
P76R |
unknown |
Het |
| Prkd2 |
T |
C |
7: 16,579,865 (GRCm39) |
V121A |
possibly damaging |
Het |
| Ptprq |
G |
A |
10: 107,471,367 (GRCm39) |
Q1345* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,732,948 (GRCm39) |
T653S |
probably benign |
Het |
| Sall2 |
G |
T |
14: 52,551,868 (GRCm39) |
Y442* |
probably null |
Het |
| Slc23a2 |
A |
C |
2: 131,931,026 (GRCm39) |
F158V |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,765,322 (GRCm39) |
R1954L |
unknown |
Het |
| Snx31 |
G |
A |
15: 36,523,596 (GRCm39) |
T362I |
probably damaging |
Het |
| Taf3 |
G |
T |
2: 9,956,901 (GRCm39) |
T422K |
probably damaging |
Het |
| Tcfl5 |
T |
C |
2: 180,283,958 (GRCm39) |
D142G |
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,507,325 (GRCm39) |
T188A |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,735,866 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,871,375 (GRCm39) |
C640S |
possibly damaging |
Het |
| Ulk4 |
T |
G |
9: 121,084,190 (GRCm39) |
N427T |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,872 (GRCm39) |
M182V |
probably benign |
Het |
| Vmn1r214 |
C |
T |
13: 23,218,839 (GRCm39) |
A111V |
probably benign |
Het |
|
| Other mutations in Cep162 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Cep162
|
APN |
9 |
87,109,220 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL00584:Cep162
|
APN |
9 |
87,103,143 (GRCm39) |
splice site |
probably benign |
|
|
IGL01387:Cep162
|
APN |
9 |
87,093,864 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01862:Cep162
|
APN |
9 |
87,135,986 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02304:Cep162
|
APN |
9 |
87,109,200 (GRCm39) |
splice site |
probably benign |
|
|
IGL02558:Cep162
|
APN |
9 |
87,107,779 (GRCm39) |
missense |
probably benign |
|
|
IGL02558:Cep162
|
APN |
9 |
87,107,786 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02602:Cep162
|
APN |
9 |
87,128,206 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02636:Cep162
|
APN |
9 |
87,130,432 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02680:Cep162
|
APN |
9 |
87,128,797 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03195:Cep162
|
APN |
9 |
87,107,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
circus
|
UTSW |
9 |
87,088,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
moscow
|
UTSW |
9 |
87,075,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
smiley
|
UTSW |
9 |
87,099,134 (GRCm39) |
nonsense |
probably null |
|
|
PIT4378001:Cep162
|
UTSW |
9 |
87,099,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4431001:Cep162
|
UTSW |
9 |
87,126,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4434001:Cep162
|
UTSW |
9 |
87,075,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Cep162
|
UTSW |
9 |
87,119,878 (GRCm39) |
splice site |
probably benign |
|
|
R0218:Cep162
|
UTSW |
9 |
87,093,862 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0366:Cep162
|
UTSW |
9 |
87,102,537 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0468:Cep162
|
UTSW |
9 |
87,075,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0764:Cep162
|
UTSW |
9 |
87,083,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Cep162
|
UTSW |
9 |
87,103,255 (GRCm39) |
missense |
probably benign |
|
|
R1614:Cep162
|
UTSW |
9 |
87,094,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Cep162
|
UTSW |
9 |
87,085,736 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1831:Cep162
|
UTSW |
9 |
87,088,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Cep162
|
UTSW |
9 |
87,086,133 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1941:Cep162
|
UTSW |
9 |
87,082,048 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2228:Cep162
|
UTSW |
9 |
87,126,384 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2256:Cep162
|
UTSW |
9 |
87,088,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Cep162
|
UTSW |
9 |
87,088,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2936:Cep162
|
UTSW |
9 |
87,109,467 (GRCm39) |
missense |
probably benign |
|
|
R3005:Cep162
|
UTSW |
9 |
87,114,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3508:Cep162
|
UTSW |
9 |
87,114,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3689:Cep162
|
UTSW |
9 |
87,107,747 (GRCm39) |
nonsense |
probably null |
|
|
R3743:Cep162
|
UTSW |
9 |
87,099,230 (GRCm39) |
splice site |
probably benign |
|
|
R4118:Cep162
|
UTSW |
9 |
87,086,229 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4380:Cep162
|
UTSW |
9 |
87,082,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4450:Cep162
|
UTSW |
9 |
87,107,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Cep162
|
UTSW |
9 |
87,094,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4598:Cep162
|
UTSW |
9 |
87,085,848 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4700:Cep162
|
UTSW |
9 |
87,088,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Cep162
|
UTSW |
9 |
87,108,022 (GRCm39) |
intron |
probably benign |
|
|
R5356:Cep162
|
UTSW |
9 |
87,088,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Cep162
|
UTSW |
9 |
87,109,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5579:Cep162
|
UTSW |
9 |
87,085,724 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5859:Cep162
|
UTSW |
9 |
87,086,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Cep162
|
UTSW |
9 |
87,085,763 (GRCm39) |
missense |
probably benign |
|
|
R6143:Cep162
|
UTSW |
9 |
87,094,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6422:Cep162
|
UTSW |
9 |
87,114,069 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6517:Cep162
|
UTSW |
9 |
87,104,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6576:Cep162
|
UTSW |
9 |
87,099,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6782:Cep162
|
UTSW |
9 |
87,093,737 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6867:Cep162
|
UTSW |
9 |
87,099,134 (GRCm39) |
nonsense |
probably null |
|
|
R7355:Cep162
|
UTSW |
9 |
87,136,008 (GRCm39) |
nonsense |
probably null |
|
|
R7391:Cep162
|
UTSW |
9 |
87,130,547 (GRCm39) |
nonsense |
probably null |
|
|
R7426:Cep162
|
UTSW |
9 |
87,074,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Cep162
|
UTSW |
9 |
87,086,250 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7710:Cep162
|
UTSW |
9 |
87,114,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Cep162
|
UTSW |
9 |
87,126,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7949:Cep162
|
UTSW |
9 |
87,088,901 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8351:Cep162
|
UTSW |
9 |
87,074,903 (GRCm39) |
nonsense |
probably null |
|
|
R8451:Cep162
|
UTSW |
9 |
87,074,903 (GRCm39) |
nonsense |
probably null |
|
|
R8552:Cep162
|
UTSW |
9 |
87,126,361 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8755:Cep162
|
UTSW |
9 |
87,114,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8762:Cep162
|
UTSW |
9 |
87,109,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9640:Cep162
|
UTSW |
9 |
87,126,352 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0063:Cep162
|
UTSW |
9 |
87,104,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Cep162
|
UTSW |
9 |
87,082,033 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCGAGCTTCTTTTGGTTC -3'
(R):5'- CTCAATGAAGAGCTGGCAGC -3'
Sequencing Primer
(F):5'- AAACCGAGCTTCTTTTGGTTCTCATG -3'
(R):5'- AGAGATACAAGACCTTACAAAGACCG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation