Incidental Mutation 'R1664:Ccdc168'
| ID |
186975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
039700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1664 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44098387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 904
(I904F)
|
| 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: I904F
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: I904F
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
A |
14: 35,533,772 (GRCm39) |
T45S |
probably benign |
Het |
| Ackr1 |
A |
G |
1: 173,160,433 (GRCm39) |
F29L |
probably benign |
Het |
| Adgrf2 |
T |
A |
17: 43,025,305 (GRCm39) |
S60C |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,944 (GRCm39) |
C355R |
probably damaging |
Het |
| Ankmy1 |
A |
C |
1: 92,812,913 (GRCm39) |
D465E |
probably benign |
Het |
| Ankrd27 |
T |
A |
7: 35,306,551 (GRCm39) |
D310E |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,553,571 (GRCm39) |
Q559* |
probably null |
Het |
| C4b |
T |
C |
17: 34,951,952 (GRCm39) |
T1298A |
probably damaging |
Het |
| Casr |
T |
A |
16: 36,330,327 (GRCm39) |
K336* |
probably null |
Het |
| Ccdc116 |
A |
T |
16: 16,960,492 (GRCm39) |
D108E |
probably benign |
Het |
| Ccr7 |
A |
T |
11: 99,036,517 (GRCm39) |
I135N |
possibly damaging |
Het |
| Cd96 |
A |
G |
16: 45,938,364 (GRCm39) |
Y34H |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,550,987 (GRCm39) |
D1135V |
probably damaging |
Het |
| Cecr2 |
C |
A |
6: 120,738,987 (GRCm39) |
T1210K |
probably damaging |
Het |
| Cep152 |
C |
A |
2: 125,408,174 (GRCm39) |
A1390S |
probably benign |
Het |
| Chd9 |
T |
G |
8: 91,749,418 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
G |
T |
17: 58,600,985 (GRCm39) |
W776L |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,095,355 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
G |
T |
6: 30,554,314 (GRCm39) |
M311I |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,664,087 (GRCm39) |
F483L |
probably damaging |
Het |
| Ddx19a |
A |
C |
8: 111,716,130 (GRCm39) |
V90G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw7 |
A |
G |
3: 84,876,478 (GRCm39) |
D213G |
possibly damaging |
Het |
| Fgd2 |
T |
C |
17: 29,588,273 (GRCm39) |
F362L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,216,778 (GRCm39) |
Y2171H |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,578,080 (GRCm39) |
R90G |
probably benign |
Het |
| Gm10073 |
T |
C |
8: 107,299,864 (GRCm39) |
E40G |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,279,861 (GRCm39) |
I398V |
probably benign |
Het |
| Grip2 |
T |
A |
6: 91,742,233 (GRCm39) |
H899L |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,337,268 (GRCm39) |
K644E |
possibly damaging |
Het |
| Iars1 |
A |
T |
13: 49,865,251 (GRCm39) |
T576S |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,759,704 (GRCm39) |
V2084M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc69 |
G |
A |
4: 14,775,079 (GRCm39) |
T63M |
probably damaging |
Het |
| Lrrn4 |
A |
T |
2: 132,711,886 (GRCm39) |
C646S |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,252,342 (GRCm39) |
T457M |
probably damaging |
Het |
| Ncln |
A |
T |
10: 81,323,555 (GRCm39) |
C531S |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,784 (GRCm39) |
I44V |
probably benign |
Het |
| Or5v1 |
C |
T |
17: 37,810,316 (GRCm39) |
T258M |
possibly damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,548 (GRCm39) |
M124L |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,642,437 (GRCm39) |
V1331A |
probably benign |
Het |
| Palb2 |
A |
G |
7: 121,723,615 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,705,758 (GRCm39) |
E514G |
possibly damaging |
Het |
| Pclaf |
A |
G |
9: 65,797,730 (GRCm39) |
N7S |
probably benign |
Het |
| Pdrg1 |
C |
T |
2: 152,857,248 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
A |
17: 33,285,492 (GRCm39) |
I437F |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,426,932 (GRCm39) |
D464E |
probably benign |
Het |
| Pkp3 |
A |
G |
7: 140,667,560 (GRCm39) |
N454D |
probably damaging |
Het |
| Plekha7 |
C |
A |
7: 115,734,269 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,167,663 (GRCm39) |
V784A |
probably benign |
Het |
| Ppp1r36 |
T |
A |
12: 76,483,028 (GRCm39) |
D205E |
possibly damaging |
Het |
| Prss35 |
A |
T |
9: 86,637,700 (GRCm39) |
T157S |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 117,125,329 (GRCm39) |
L621P |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,831,172 (GRCm39) |
K524R |
probably damaging |
Het |
| Rasgrp4 |
T |
A |
7: 28,839,688 (GRCm39) |
H133Q |
probably benign |
Het |
| Reln |
A |
T |
5: 22,134,084 (GRCm39) |
Y2615N |
probably damaging |
Het |
| Rpf1 |
T |
A |
3: 146,217,903 (GRCm39) |
T204S |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,058,464 (GRCm39) |
*113L |
probably null |
Het |
| Scn5a |
A |
C |
9: 119,350,243 (GRCm39) |
L877R |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,821 (GRCm39) |
D632E |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,865,269 (GRCm39) |
H522R |
probably damaging |
Het |
| Spink2 |
A |
T |
5: 77,354,855 (GRCm39) |
C19S |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,878,266 (GRCm39) |
L19P |
possibly damaging |
Het |
| St7l |
T |
C |
3: 104,778,214 (GRCm39) |
V117A |
probably damaging |
Het |
| Stac2 |
C |
T |
11: 97,933,420 (GRCm39) |
S174N |
probably damaging |
Het |
| Sult4a1 |
A |
G |
15: 83,970,818 (GRCm39) |
Y196H |
probably benign |
Het |
| Tex2 |
C |
T |
11: 106,458,608 (GRCm39) |
|
probably benign |
Het |
| Tprg1l |
A |
T |
4: 154,243,862 (GRCm39) |
V98D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,548,369 (GRCm39) |
H31978Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,658,853 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
C |
A |
9: 21,031,649 (GRCm39) |
R447L |
probably damaging |
Het |
| Ucn3 |
T |
C |
13: 3,991,634 (GRCm39) |
Y6C |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,584,970 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
C |
17: 18,464,406 (GRCm39) |
A628G |
probably damaging |
Het |
| Wdr95 |
C |
A |
5: 149,518,752 (GRCm39) |
T389K |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,770,794 (GRCm39) |
|
probably null |
Het |
| Xab2 |
T |
A |
8: 3,669,068 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
A |
T |
13: 67,406,144 (GRCm39) |
N95K |
possibly damaging |
Het |
| Zfp672 |
T |
C |
11: 58,208,138 (GRCm39) |
H61R |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,420 (GRCm39) |
G403E |
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 |
|
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 |
|
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'- AACCGCCTTATTACTCATGCGTACC -3'
(R):5'- ACGGTTGCATCACGGACTTTCTTG -3'
Sequencing Primer
(F):5'- GACCCTTTTGCCATTTGAAGGAC -3'
(R):5'- TGTCCATACCATCACCAGATTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation