Incidental Mutation 'R8891:Ccdc168'
| ID |
677661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
068753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R8891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44096284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1605
(I1605V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168641]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168641
AA Change: I1605V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: I1605V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC168_N
|
2 |
202 |
2.5e-83 |
PFAM |
|
Pfam:CCDC168_N
|
200 |
302 |
1.7e-26 |
PFAM |
|
Pfam:CCDC168_N
|
347 |
397 |
2.1e-4 |
PFAM |
|
Pfam:CCDC168_N
|
437 |
581 |
8.5e-8 |
PFAM |
|
Pfam:CCDC168_N
|
663 |
802 |
6.3e-5 |
PFAM |
|
Pfam:CCDC168_N
|
788 |
955 |
1e-9 |
PFAM |
|
low complexity region
|
1803 |
1819 |
N/A |
INTRINSIC |
|
low complexity region
|
1830 |
1847 |
N/A |
INTRINSIC |
|
low complexity region
|
1968 |
1984 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,772,520 (GRCm39) |
K570* |
probably null |
Het |
| Abi1 |
T |
C |
2: 22,861,262 (GRCm39) |
I99V |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,223,958 (GRCm39) |
G256R |
unknown |
Het |
| Adgrg7 |
T |
A |
16: 56,572,762 (GRCm39) |
E351D |
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,612,143 (GRCm39) |
K66T |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,162,144 (GRCm39) |
R34W |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,787,813 (GRCm39) |
T1469A |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,822,194 (GRCm39) |
R1708S |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,767,840 (GRCm39) |
E28D |
probably benign |
Het |
| Cldn24 |
A |
T |
8: 48,275,281 (GRCm39) |
N35I |
probably benign |
Het |
| Coa6 |
G |
C |
8: 127,149,570 (GRCm39) |
|
probably null |
Het |
| Copa |
C |
T |
1: 171,946,818 (GRCm39) |
R1009C |
probably damaging |
Het |
| Crybb2 |
G |
A |
5: 113,209,913 (GRCm39) |
T150M |
possibly damaging |
Het |
| Ctnnd2 |
A |
T |
15: 30,620,076 (GRCm39) |
T143S |
probably benign |
Het |
| Eid3 |
A |
G |
10: 82,702,992 (GRCm39) |
N151S |
probably damaging |
Het |
| Fbxo17 |
G |
T |
7: 28,434,733 (GRCm39) |
V173L |
possibly damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,415,433 (GRCm39) |
N240S |
probably damaging |
Het |
| Gck |
G |
T |
11: 5,851,733 (GRCm39) |
S445R |
probably damaging |
Het |
| Gm5114 |
C |
A |
7: 39,057,718 (GRCm39) |
V634F |
probably benign |
Het |
| Gnat2 |
G |
A |
3: 108,005,634 (GRCm39) |
D200N |
|
Het |
| H13 |
A |
G |
2: 152,546,049 (GRCm39) |
N390S |
probably benign |
Het |
| Helz |
T |
A |
11: 107,552,842 (GRCm39) |
M1206K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,387,439 (GRCm39) |
G371R |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,982,326 (GRCm39) |
T513A |
probably damaging |
Het |
| L3mbtl4 |
T |
C |
17: 68,762,781 (GRCm39) |
S105P |
possibly damaging |
Het |
| Lpo |
T |
A |
11: 87,697,848 (GRCm39) |
E653V |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,887,435 (GRCm39) |
D3088G |
possibly damaging |
Het |
| Man2b1 |
C |
A |
8: 85,811,084 (GRCm39) |
H72N |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,233,801 (GRCm39) |
H981Q |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,559,246 (GRCm39) |
I56N |
probably benign |
Het |
| Mul1 |
A |
C |
4: 138,162,164 (GRCm39) |
K32Q |
probably benign |
Het |
| Oas1c |
C |
T |
5: 120,946,126 (GRCm39) |
S124N |
probably benign |
Het |
| Omg |
T |
A |
11: 79,393,829 (GRCm39) |
K10* |
probably null |
Het |
| Or2a52 |
A |
G |
6: 43,144,750 (GRCm39) |
I253V |
probably benign |
Het |
| Or4k52 |
A |
T |
2: 111,611,186 (GRCm39) |
I174F |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,046 (GRCm39) |
H174R |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,692 (GRCm39) |
N599K |
probably damaging |
Het |
| Pcdhb18 |
C |
A |
18: 37,623,700 (GRCm39) |
N343K |
probably damaging |
Het |
| Phf7 |
C |
A |
14: 30,971,613 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
C |
T |
4: 144,099,397 (GRCm39) |
C456Y |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,604,982 (GRCm39) |
N42S |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,090,136 (GRCm39) |
D716E |
probably benign |
Het |
| Rprd2 |
A |
C |
3: 95,671,367 (GRCm39) |
H1345Q |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,814,768 (GRCm39) |
A668V |
probably damaging |
Het |
| Sag |
T |
A |
1: 87,759,683 (GRCm39) |
L307Q |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,603,734 (GRCm39) |
P1106L |
probably damaging |
Het |
| Sec16b |
T |
A |
1: 157,382,409 (GRCm39) |
I615N |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,628,993 (GRCm39) |
V600A |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,263 (GRCm39) |
T264A |
probably benign |
Het |
| Tbx3 |
A |
G |
5: 119,809,983 (GRCm39) |
|
probably benign |
Het |
| Tigd5 |
T |
C |
15: 75,783,069 (GRCm39) |
V477A |
possibly damaging |
Het |
| Tle7 |
T |
A |
8: 110,836,763 (GRCm39) |
S216R |
possibly damaging |
Het |
| Ttc17 |
G |
A |
2: 94,192,764 (GRCm39) |
A89V |
probably damaging |
Het |
| Twsg1 |
A |
G |
17: 66,255,657 (GRCm39) |
I39T |
|
Het |
| Zfp184 |
T |
C |
13: 22,143,512 (GRCm39) |
F406S |
probably damaging |
Het |
| Zfp429 |
A |
T |
13: 67,538,830 (GRCm39) |
C205S |
probably damaging |
Het |
| Zfp59 |
T |
A |
7: 27,554,313 (GRCm39) |
D588E |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,797,083 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Ccdc168 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
D3080:Ccdc168
|
UTSW |
1 |
44,106,495 (GRCm39) |
|
|
|
|
R0045:Ccdc168
|
UTSW |
1 |
44,096,365 (GRCm39) |
missense |
probably benign |
|
|
R0110:Ccdc168
|
UTSW |
1 |
44,098,384 (GRCm39) |
missense |
probably benign |
|
|
R0450:Ccdc168
|
UTSW |
1 |
44,100,257 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0469:Ccdc168
|
UTSW |
1 |
44,100,257 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0510:Ccdc168
|
UTSW |
1 |
44,100,257 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0602:Ccdc168
|
UTSW |
1 |
44,099,127 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0648:Ccdc168
|
UTSW |
1 |
44,095,723 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0928:Ccdc168
|
UTSW |
1 |
44,096,388 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1056:Ccdc168
|
UTSW |
1 |
44,100,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1217:Ccdc168
|
UTSW |
1 |
44,096,339 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1232:Ccdc168
|
UTSW |
1 |
44,095,752 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1399:Ccdc168
|
UTSW |
1 |
44,100,471 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1489:Ccdc168
|
UTSW |
1 |
44,100,667 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1489:Ccdc168
|
UTSW |
1 |
44,096,950 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1519:Ccdc168
|
UTSW |
1 |
44,096,130 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1664:Ccdc168
|
UTSW |
1 |
44,098,387 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1828:Ccdc168
|
UTSW |
1 |
44,096,234 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1944:Ccdc168
|
UTSW |
1 |
44,101,009 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2032:Ccdc168
|
UTSW |
1 |
44,100,900 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2094:Ccdc168
|
UTSW |
1 |
44,098,890 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2170:Ccdc168
|
UTSW |
1 |
44,095,168 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2185:Ccdc168
|
UTSW |
1 |
44,100,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2280:Ccdc168
|
UTSW |
1 |
44,095,620 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2281:Ccdc168
|
UTSW |
1 |
44,095,620 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2339:Ccdc168
|
UTSW |
1 |
44,100,023 (GRCm39) |
missense |
probably benign |
|
|
R3617:Ccdc168
|
UTSW |
1 |
44,100,114 (GRCm39) |
missense |
probably benign |
|
|
R3738:Ccdc168
|
UTSW |
1 |
44,098,026 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4012:Ccdc168
|
UTSW |
1 |
44,100,129 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4034:Ccdc168
|
UTSW |
1 |
44,098,026 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4344:Ccdc168
|
UTSW |
1 |
44,100,151 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4436:Ccdc168
|
UTSW |
1 |
44,095,276 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4485:Ccdc168
|
UTSW |
1 |
44,099,283 (GRCm39) |
missense |
probably benign |
|
|
R4735:Ccdc168
|
UTSW |
1 |
44,100,861 (GRCm39) |
missense |
probably benign |
|
|
R4782:Ccdc168
|
UTSW |
1 |
44,098,203 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4837:Ccdc168
|
UTSW |
1 |
44,100,594 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4862:Ccdc168
|
UTSW |
1 |
44,097,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5247:Ccdc168
|
UTSW |
1 |
44,096,166 (GRCm39) |
nonsense |
probably null |
|
|
R5347:Ccdc168
|
UTSW |
1 |
44,096,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5355:Ccdc168
|
UTSW |
1 |
44,097,139 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5559:Ccdc168
|
UTSW |
1 |
44,097,675 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5640:Ccdc168
|
UTSW |
1 |
44,101,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5681:Ccdc168
|
UTSW |
1 |
44,100,624 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5776:Ccdc168
|
UTSW |
1 |
44,095,665 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5919:Ccdc168
|
UTSW |
1 |
44,096,146 (GRCm39) |
missense |
probably benign |
|
|
R5987:Ccdc168
|
UTSW |
1 |
44,096,417 (GRCm39) |
missense |
probably benign |
|
|
R6616:Ccdc168
|
UTSW |
1 |
44,100,634 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6677:Ccdc168
|
UTSW |
1 |
44,097,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6830:Ccdc168
|
UTSW |
1 |
44,095,890 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6906:Ccdc168
|
UTSW |
1 |
44,095,173 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6909:Ccdc168
|
UTSW |
1 |
44,098,935 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6957:Ccdc168
|
UTSW |
1 |
44,096,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7008:Ccdc168
|
UTSW |
1 |
44,098,785 (GRCm39) |
missense |
probably benign |
|
|
R7052:Ccdc168
|
UTSW |
1 |
44,096,466 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7176:Ccdc168
|
UTSW |
1 |
44,099,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7190:Ccdc168
|
UTSW |
1 |
44,100,775 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7296:Ccdc168
|
UTSW |
1 |
44,100,076 (GRCm39) |
nonsense |
probably null |
|
|
R7347:Ccdc168
|
UTSW |
1 |
44,098,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7371:Ccdc168
|
UTSW |
1 |
44,100,537 (GRCm39) |
missense |
probably benign |
|
|
R7375:Ccdc168
|
UTSW |
1 |
44,099,694 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7442:Ccdc168
|
UTSW |
1 |
44,097,868 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7450:Ccdc168
|
UTSW |
1 |
44,097,933 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7574:Ccdc168
|
UTSW |
1 |
44,098,593 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7586:Ccdc168
|
UTSW |
1 |
44,099,173 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7739:Ccdc168
|
UTSW |
1 |
44,095,578 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7878:Ccdc168
|
UTSW |
1 |
44,095,174 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7959:Ccdc168
|
UTSW |
1 |
44,096,728 (GRCm39) |
missense |
probably benign |
|
|
R7991:Ccdc168
|
UTSW |
1 |
44,098,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8035:Ccdc168
|
UTSW |
1 |
44,100,711 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8281:Ccdc168
|
UTSW |
1 |
44,095,698 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8523:Ccdc168
|
UTSW |
1 |
44,099,994 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8804:Ccdc168
|
UTSW |
1 |
44,095,809 (GRCm39) |
missense |
probably benign |
|
|
R8869:Ccdc168
|
UTSW |
1 |
44,097,425 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9010:Ccdc168
|
UTSW |
1 |
44,100,633 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9082:Ccdc168
|
UTSW |
1 |
44,099,874 (GRCm39) |
missense |
unknown |
|
|
R9097:Ccdc168
|
UTSW |
1 |
44,098,049 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9157:Ccdc168
|
UTSW |
1 |
44,096,520 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9262:Ccdc168
|
UTSW |
1 |
44,096,269 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9313:Ccdc168
|
UTSW |
1 |
44,096,520 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9419:Ccdc168
|
UTSW |
1 |
44,096,935 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9433:Ccdc168
|
UTSW |
1 |
44,095,668 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9485:Ccdc168
|
UTSW |
1 |
44,095,399 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9511:Ccdc168
|
UTSW |
1 |
44,098,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9573:Ccdc168
|
UTSW |
1 |
44,095,307 (GRCm39) |
nonsense |
probably null |
|
|
R9748:Ccdc168
|
UTSW |
1 |
44,095,824 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
YA93:Ccdc168
|
UTSW |
1 |
44,104,245 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGACATTCGTCCCATCAG -3'
(R):5'- AAGCCTTCTGTCACTGTGG -3'
Sequencing Primer
(F):5'- TTGAGTTCCTGAAGCAGAATGC -3'
(R):5'- ACTGTGGTCTCTATGCCAAATG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation