Incidental Mutation 'R6815:Ccdc158'
| ID |
537269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc158
|
| Ensembl Gene |
ENSMUSG00000050050 |
| Gene Name |
coiled-coil domain containing 158 |
| Synonyms |
4932413O14Rik |
| MMRRC Submission |
044927-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R6815 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92760345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1035
(Y1035F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
|
| AlphaFold |
Q8CDI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060930
AA Change: Y1035F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
AA Change: Y1035F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
G |
14: 54,828,610 (GRCm39) |
N297T |
probably damaging |
Het |
| 6820408C15Rik |
A |
G |
2: 152,282,975 (GRCm39) |
N251S |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,152,380 (GRCm39) |
T1389A |
probably damaging |
Het |
| Acad11 |
A |
G |
9: 103,958,526 (GRCm39) |
T265A |
probably benign |
Het |
| Ace3 |
C |
T |
11: 105,888,084 (GRCm39) |
Q302* |
probably null |
Het |
| Aip |
A |
T |
19: 4,166,066 (GRCm39) |
H128Q |
probably benign |
Het |
| Akr1b7 |
A |
T |
6: 34,389,269 (GRCm39) |
|
probably null |
Het |
| Arid4a |
T |
A |
12: 71,063,856 (GRCm39) |
|
probably null |
Het |
| Armh1 |
T |
A |
4: 117,087,134 (GRCm39) |
H177L |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,407,880 (GRCm39) |
T2256A |
probably benign |
Het |
| Bco1 |
A |
T |
8: 117,840,261 (GRCm39) |
M260L |
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,395,024 (GRCm39) |
N305S |
probably benign |
Het |
| Cd180 |
C |
T |
13: 102,841,937 (GRCm39) |
L328F |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,039,503 (GRCm39) |
L1121P |
probably damaging |
Het |
| Cyp2u1 |
A |
C |
3: 131,091,659 (GRCm39) |
I287S |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,570,950 (GRCm39) |
M2195I |
probably benign |
Het |
| Dnajc21 |
C |
T |
15: 10,447,777 (GRCm39) |
|
probably null |
Het |
| Dock10 |
C |
T |
1: 80,516,576 (GRCm39) |
V1398M |
possibly damaging |
Het |
| Dpy19l3 |
T |
A |
7: 35,449,272 (GRCm39) |
I44F |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
| Ercc4 |
T |
C |
16: 12,941,299 (GRCm39) |
I139T |
probably damaging |
Het |
| Gpr4 |
T |
A |
7: 18,956,560 (GRCm39) |
F161I |
probably damaging |
Het |
| Gucy2e |
A |
C |
11: 69,122,827 (GRCm39) |
L516R |
possibly damaging |
Het |
| Hdhd5 |
A |
G |
6: 120,498,170 (GRCm39) |
V143A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,026,501 (GRCm39) |
Q252L |
probably damaging |
Het |
| Heatr5a |
T |
G |
12: 52,002,291 (GRCm39) |
D215A |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,795,777 (GRCm39) |
A164D |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,243 (GRCm39) |
I46V |
probably benign |
Het |
| Iqgap1 |
C |
T |
7: 80,416,632 (GRCm39) |
|
probably null |
Het |
| Lrig1 |
A |
G |
6: 94,602,010 (GRCm39) |
L281P |
probably damaging |
Het |
| Or10p22 |
A |
G |
10: 128,826,191 (GRCm39) |
S137G |
probably benign |
Het |
| Or7g32 |
G |
T |
9: 19,389,061 (GRCm39) |
H159N |
probably benign |
Het |
| Pcdha7 |
A |
G |
18: 37,108,174 (GRCm39) |
T400A |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,618,573 (GRCm39) |
T629A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,426,051 (GRCm39) |
D3204G |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,577,718 (GRCm39) |
F57S |
probably benign |
Het |
| Prr15l |
T |
C |
11: 96,825,433 (GRCm39) |
V21A |
probably damaging |
Het |
| Rag2 |
T |
A |
2: 101,460,900 (GRCm39) |
N403K |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
A |
12: 109,560,937 (GRCm39) |
D301Y |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,770,051 (GRCm39) |
N215S |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,024,824 (GRCm39) |
D1061E |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,574,324 (GRCm39) |
|
probably null |
Het |
| Stox2 |
A |
T |
8: 47,646,136 (GRCm39) |
D441E |
probably damaging |
Het |
| Tmem52b |
G |
A |
6: 129,493,705 (GRCm39) |
|
probably null |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,292 (GRCm39) |
E62G |
probably benign |
Het |
| Trim54 |
G |
T |
5: 31,291,424 (GRCm39) |
V182L |
probably damaging |
Het |
| Trmt6 |
A |
C |
2: 132,651,778 (GRCm39) |
V214G |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,057,134 (GRCm39) |
S613G |
probably benign |
Het |
| Ttll4 |
C |
A |
1: 74,718,508 (GRCm39) |
R120S |
possibly damaging |
Het |
| Wdr41 |
A |
T |
13: 95,154,682 (GRCm39) |
K354N |
probably damaging |
Het |
| Zfp652 |
A |
T |
11: 95,640,230 (GRCm39) |
K52* |
probably null |
Het |
|
| Other mutations in Ccdc158 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Ccdc158
|
APN |
5 |
92,805,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00926:Ccdc158
|
APN |
5 |
92,798,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01533:Ccdc158
|
APN |
5 |
92,757,815 (GRCm39) |
splice site |
probably null |
|
|
IGL01551:Ccdc158
|
APN |
5 |
92,814,620 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01591:Ccdc158
|
APN |
5 |
92,809,900 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01722:Ccdc158
|
APN |
5 |
92,810,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02250:Ccdc158
|
APN |
5 |
92,756,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Ccdc158
|
APN |
5 |
92,797,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02570:Ccdc158
|
APN |
5 |
92,796,885 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02951:Ccdc158
|
APN |
5 |
92,797,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03275:Ccdc158
|
APN |
5 |
92,777,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0238:Ccdc158
|
UTSW |
5 |
92,809,977 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0238:Ccdc158
|
UTSW |
5 |
92,809,977 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0747:Ccdc158
|
UTSW |
5 |
92,781,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1219:Ccdc158
|
UTSW |
5 |
92,802,040 (GRCm39) |
splice site |
probably benign |
|
|
R1480:Ccdc158
|
UTSW |
5 |
92,796,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Ccdc158
|
UTSW |
5 |
92,798,647 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2172:Ccdc158
|
UTSW |
5 |
92,780,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2245:Ccdc158
|
UTSW |
5 |
92,757,811 (GRCm39) |
unclassified |
probably benign |
|
|
R3004:Ccdc158
|
UTSW |
5 |
92,796,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3147:Ccdc158
|
UTSW |
5 |
92,805,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3693:Ccdc158
|
UTSW |
5 |
92,757,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3694:Ccdc158
|
UTSW |
5 |
92,757,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Ccdc158
|
UTSW |
5 |
92,780,283 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3736:Ccdc158
|
UTSW |
5 |
92,780,283 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3912:Ccdc158
|
UTSW |
5 |
92,796,794 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4026:Ccdc158
|
UTSW |
5 |
92,791,666 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4080:Ccdc158
|
UTSW |
5 |
92,771,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4463:Ccdc158
|
UTSW |
5 |
92,782,159 (GRCm39) |
missense |
probably null |
0.99 |
|
R4483:Ccdc158
|
UTSW |
5 |
92,781,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4859:Ccdc158
|
UTSW |
5 |
92,781,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5016:Ccdc158
|
UTSW |
5 |
92,805,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5050:Ccdc158
|
UTSW |
5 |
92,814,738 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5372:Ccdc158
|
UTSW |
5 |
92,780,419 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5427:Ccdc158
|
UTSW |
5 |
92,796,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Ccdc158
|
UTSW |
5 |
92,775,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5966:Ccdc158
|
UTSW |
5 |
92,797,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6106:Ccdc158
|
UTSW |
5 |
92,775,325 (GRCm39) |
missense |
probably benign |
|
|
R6185:Ccdc158
|
UTSW |
5 |
92,814,713 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6562:Ccdc158
|
UTSW |
5 |
92,810,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6743:Ccdc158
|
UTSW |
5 |
92,810,005 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6914:Ccdc158
|
UTSW |
5 |
92,809,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6975:Ccdc158
|
UTSW |
5 |
92,814,579 (GRCm39) |
nonsense |
probably null |
|
|
R7252:Ccdc158
|
UTSW |
5 |
92,798,647 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7477:Ccdc158
|
UTSW |
5 |
92,798,555 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7782:Ccdc158
|
UTSW |
5 |
92,793,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8014:Ccdc158
|
UTSW |
5 |
92,796,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Ccdc158
|
UTSW |
5 |
92,771,260 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8028:Ccdc158
|
UTSW |
5 |
92,782,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Ccdc158
|
UTSW |
5 |
92,809,871 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc158
|
UTSW |
5 |
92,756,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATCCTACAATCCCCTGGA -3'
(R):5'- GTGTTTCTTTATTAAGTGCAGTGCA -3'
Sequencing Primer
(F):5'- TTATCTGCCTCAGTACAGGGGAAC -3'
(R):5'- AGCAAGTCCATCTGGGAA -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation