Incidental Mutation 'R1828:Ccdc168'
| ID |
206969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
039855-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R1828 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44096234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1621
(N1621K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168641]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168641
AA Change: N1621K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: N1621K
| 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: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
C |
17: 41,190,962 (GRCm39) |
T156A |
probably benign |
Het |
| 9230106D20Rik |
A |
T |
10: 19,536,065 (GRCm39) |
|
noncoding transcript |
Het |
| Abca3 |
A |
G |
17: 24,585,171 (GRCm39) |
D144G |
probably benign |
Het |
| Anxa2 |
T |
A |
9: 69,390,260 (GRCm39) |
L121Q |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,512,732 (GRCm39) |
I267N |
probably damaging |
Het |
| Asb14 |
A |
T |
14: 26,633,797 (GRCm39) |
D334V |
possibly damaging |
Het |
| Batf3 |
A |
G |
1: 190,830,714 (GRCm39) |
N20S |
probably benign |
Het |
| Bub1b |
A |
G |
2: 118,468,920 (GRCm39) |
H895R |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,160 (GRCm39) |
|
probably null |
Het |
| Cars1 |
T |
C |
7: 143,130,385 (GRCm39) |
I294V |
probably damaging |
Het |
| Ccdc142 |
G |
A |
6: 83,084,462 (GRCm39) |
A527T |
probably damaging |
Het |
| Ccdc92 |
T |
C |
5: 124,913,242 (GRCm39) |
N96D |
probably benign |
Het |
| Ceacam18 |
T |
A |
7: 43,288,880 (GRCm39) |
D210E |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,952,257 (GRCm39) |
T1373A |
probably damaging |
Het |
| Cfap161 |
T |
G |
7: 83,440,932 (GRCm39) |
|
probably null |
Het |
| Cimip4 |
T |
C |
15: 78,270,588 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Cldn19 |
A |
G |
4: 119,112,990 (GRCm39) |
D74G |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,330,762 (GRCm39) |
T115A |
probably damaging |
Het |
| Cox7a2l |
T |
A |
17: 83,811,397 (GRCm39) |
Q78L |
probably benign |
Het |
| Crot |
T |
C |
5: 9,019,080 (GRCm39) |
N491S |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,505,342 (GRCm39) |
L2157Q |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,643,165 (GRCm39) |
|
probably null |
Het |
| Cyp4f14 |
T |
G |
17: 33,130,209 (GRCm39) |
D190A |
probably damaging |
Het |
| D630039A03Rik |
C |
T |
4: 57,910,240 (GRCm39) |
V191I |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,838,343 (GRCm39) |
N1124I |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,177,861 (GRCm39) |
Y1548* |
probably null |
Het |
| Epdr1 |
G |
A |
13: 19,778,773 (GRCm39) |
Q6* |
probably null |
Het |
| Erbin |
A |
G |
13: 103,996,577 (GRCm39) |
|
probably null |
Het |
| Ero1a |
A |
T |
14: 45,525,217 (GRCm39) |
I436K |
probably damaging |
Het |
| Exph5 |
A |
T |
9: 53,287,941 (GRCm39) |
Q1674L |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,607 (GRCm39) |
Y3753F |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,174,098 (GRCm39) |
V763A |
probably damaging |
Het |
| Golim4 |
G |
A |
3: 75,809,745 (GRCm39) |
T216I |
probably damaging |
Het |
| Gpr83 |
G |
T |
9: 14,779,629 (GRCm39) |
C269F |
possibly damaging |
Het |
| Gtf2f2 |
A |
G |
14: 76,245,143 (GRCm39) |
|
probably null |
Het |
| Gtf3c5 |
T |
C |
2: 28,469,694 (GRCm39) |
Y70C |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,372,584 (GRCm39) |
R141S |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,965,182 (GRCm39) |
D548G |
probably benign |
Het |
| Hr |
G |
A |
14: 70,809,477 (GRCm39) |
|
probably null |
Het |
| Hrg |
A |
C |
16: 22,774,853 (GRCm39) |
E161A |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,237,526 (GRCm39) |
N1933I |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,229,830 (GRCm39) |
L1255P |
probably damaging |
Het |
| Kcnma1 |
C |
A |
14: 23,380,997 (GRCm39) |
D903Y |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,570,252 (GRCm39) |
|
probably null |
Het |
| Mgat5b |
C |
A |
11: 116,868,614 (GRCm39) |
H512Q |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,502,943 (GRCm39) |
V999A |
probably benign |
Het |
| Mttp |
G |
T |
3: 137,813,041 (GRCm39) |
Q545K |
probably damaging |
Het |
| Ncstn |
CAGCTCCACGAAG |
CAG |
1: 171,899,038 (GRCm39) |
|
probably null |
Het |
| Nexn |
A |
G |
3: 151,948,405 (GRCm39) |
I386T |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,365,763 (GRCm39) |
S85P |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,895 (GRCm39) |
N37S |
possibly damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,966 (GRCm39) |
A161V |
probably benign |
Het |
| Or4b1d |
A |
G |
2: 89,968,931 (GRCm39) |
L184S |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,402 (GRCm39) |
I296F |
probably benign |
Het |
| Or55b3 |
A |
G |
7: 102,126,720 (GRCm39) |
L119P |
probably damaging |
Het |
| Or5p80 |
G |
T |
7: 108,229,855 (GRCm39) |
V219F |
possibly damaging |
Het |
| Pax4 |
T |
C |
6: 28,443,446 (GRCm39) |
Y290C |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,038 (GRCm39) |
V337D |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,640,310 (GRCm39) |
Y187H |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,098,614 (GRCm39) |
M2017T |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,703,483 (GRCm39) |
T818A |
possibly damaging |
Het |
| Pxk |
C |
T |
14: 8,151,507 (GRCm38) |
R441* |
probably null |
Het |
| Pygm |
T |
C |
19: 6,447,637 (GRCm39) |
I648T |
possibly damaging |
Het |
| Rab4a |
A |
T |
8: 124,550,565 (GRCm39) |
K15I |
probably damaging |
Het |
| Rasa3 |
T |
C |
8: 13,635,035 (GRCm39) |
E428G |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,822,010 (GRCm39) |
W187* |
probably null |
Het |
| Rpl3 |
C |
T |
15: 79,964,591 (GRCm39) |
V222M |
possibly damaging |
Het |
| Rtl9 |
C |
T |
X: 141,886,011 (GRCm39) |
S1141F |
possibly damaging |
Het |
| S100a11 |
A |
T |
3: 93,433,428 (GRCm39) |
I91F |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,590,148 (GRCm39) |
T215I |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,461,372 (GRCm39) |
D1456G |
probably damaging |
Het |
| Tex19.2 |
C |
T |
11: 121,008,317 (GRCm39) |
V44I |
probably benign |
Het |
| Tmem127 |
G |
A |
2: 127,098,094 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
G |
T |
3: 9,012,579 (GRCm39) |
N59K |
probably damaging |
Het |
| Trpc3 |
G |
A |
3: 36,692,695 (GRCm39) |
P766S |
possibly damaging |
Het |
| Usp17la |
T |
A |
7: 104,510,331 (GRCm39) |
V312D |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,582 (GRCm39) |
N2608D |
possibly damaging |
Het |
| Zfp764l1 |
T |
A |
7: 126,991,081 (GRCm39) |
H302L |
probably damaging |
Het |
| Zscan25 |
C |
A |
5: 145,227,858 (GRCm39) |
H507Q |
possibly damaging |
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 |
|
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 |
|
R8891:Ccdc168
|
UTSW |
1 |
44,096,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CCGTGTCAGTTGAAGTCTCAG -3'
(R):5'- ACACTTCCAGGATAAGCAAGG -3'
Sequencing Primer
(F):5'- TTAGGGAGACATTCGTCCCATCAG -3'
(R):5'- CTTCCAGGATAAGCAAGGGTTCAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation