Incidental Mutation 'R7676:Ccdc175'
| ID |
592468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc175
|
| Ensembl Gene |
ENSMUSG00000021086 |
| Gene Name |
coiled-coil domain containing 175 |
| Synonyms |
4930403N07Rik |
| MMRRC Submission |
045647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R7676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
72148074-72231803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72148821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 779
(Q779L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021494]
[ENSMUST00000057257]
[ENSMUST00000117449]
|
| AlphaFold |
E9PVB3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021494
AA Change: Q779L
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: Q779L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
129 |
164 |
N/A |
INTRINSIC |
|
coiled coil region
|
205 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
295 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
490 |
N/A |
INTRINSIC |
|
coiled coil region
|
517 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
819 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057257
|
| SMART Domains |
Protein: ENSMUSP00000061370
Gene: ENSMUSG00000005078
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF766
|
9 |
300 |
3.6e-118 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117449
|
| SMART Domains |
Protein: ENSMUSP00000113744
Gene: ENSMUSG00000005078
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF766
|
3 |
295 |
2.3e-145 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
| Adam6a |
G |
A |
12: 113,508,196 (GRCm39) |
G190S |
probably benign |
Het |
| Adnp |
G |
A |
2: 168,025,367 (GRCm39) |
R643* |
probably null |
Het |
| Akap6 |
A |
G |
12: 52,933,633 (GRCm39) |
D375G |
possibly damaging |
Het |
| Aldh1l2 |
G |
T |
10: 83,343,975 (GRCm39) |
A480E |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,273,324 (GRCm39) |
L2484* |
probably null |
Het |
| Dnajc21 |
T |
C |
15: 10,462,430 (GRCm39) |
Y65C |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,333,294 (GRCm39) |
N255K |
probably benign |
Het |
| Efhc1 |
G |
T |
1: 21,037,593 (GRCm39) |
G257W |
probably damaging |
Het |
| Fars2 |
C |
A |
13: 36,389,026 (GRCm39) |
L172I |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,945,846 (GRCm39) |
Y1580H |
probably damaging |
Het |
| Fli1 |
T |
A |
9: 32,339,326 (GRCm39) |
N253Y |
probably benign |
Het |
| Foxd3 |
G |
T |
4: 99,545,151 (GRCm39) |
C97F |
probably damaging |
Het |
| Gem |
C |
A |
4: 11,711,170 (GRCm39) |
D120E |
possibly damaging |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,299 (GRCm39) |
C41R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,449,549 (GRCm39) |
D897G |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,217,553 (GRCm39) |
S16G |
probably benign |
Het |
| Keg1 |
T |
G |
19: 12,693,409 (GRCm39) |
V154G |
probably benign |
Het |
| Lrrc45 |
G |
A |
11: 120,611,148 (GRCm39) |
R602H |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,598,292 (GRCm39) |
D591G |
possibly damaging |
Het |
| Mmp10 |
T |
A |
9: 7,503,550 (GRCm39) |
V140D |
probably damaging |
Het |
| Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
| Nckipsd |
T |
C |
9: 108,692,153 (GRCm39) |
F525L |
probably damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,347 (GRCm39) |
S233P |
probably damaging |
Het |
| Or10j7 |
T |
A |
1: 173,011,120 (GRCm39) |
K294* |
probably null |
Het |
| Or6c6c |
G |
T |
10: 129,541,155 (GRCm39) |
S136I |
possibly damaging |
Het |
| P2ry12 |
T |
A |
3: 59,125,178 (GRCm39) |
M166L |
possibly damaging |
Het |
| Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
| Pdilt |
A |
T |
7: 119,094,220 (GRCm39) |
Y344N |
probably damaging |
Het |
| Pip4k2b |
A |
T |
11: 97,611,188 (GRCm39) |
N309K |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,912,708 (GRCm39) |
V166I |
|
Het |
| Plxdc2 |
C |
T |
2: 16,716,894 (GRCm39) |
S377L |
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,295,344 (GRCm39) |
V224E |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,685,220 (GRCm39) |
D428V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,644,951 (GRCm39) |
D12968G |
probably damaging |
Het |
| Tulp2 |
G |
T |
7: 45,170,451 (GRCm39) |
V457F |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,839,908 (GRCm39) |
S1879T |
probably damaging |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,437 (GRCm39) |
Y118H |
probably benign |
Het |
| Zfat |
A |
C |
15: 68,096,693 (GRCm39) |
V40G |
possibly damaging |
Het |
|
| Other mutations in Ccdc175 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01524:Ccdc175
|
APN |
12 |
72,177,916 (GRCm39) |
splice site |
probably benign |
|
|
IGL01805:Ccdc175
|
APN |
12 |
72,176,003 (GRCm39) |
splice site |
probably benign |
|
|
IGL01807:Ccdc175
|
APN |
12 |
72,206,616 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01985:Ccdc175
|
APN |
12 |
72,175,052 (GRCm39) |
nonsense |
probably null |
|
|
IGL02719:Ccdc175
|
APN |
12 |
72,221,899 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02944:Ccdc175
|
APN |
12 |
72,164,667 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03113:Ccdc175
|
APN |
12 |
72,191,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03143:Ccdc175
|
APN |
12 |
72,182,832 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03356:Ccdc175
|
APN |
12 |
72,186,667 (GRCm39) |
splice site |
probably null |
|
|
R0009:Ccdc175
|
UTSW |
12 |
72,182,739 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0233:Ccdc175
|
UTSW |
12 |
72,152,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Ccdc175
|
UTSW |
12 |
72,152,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0609:Ccdc175
|
UTSW |
12 |
72,204,281 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0706:Ccdc175
|
UTSW |
12 |
72,186,722 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0948:Ccdc175
|
UTSW |
12 |
72,177,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Ccdc175
|
UTSW |
12 |
72,225,318 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1166:Ccdc175
|
UTSW |
12 |
72,152,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Ccdc175
|
UTSW |
12 |
72,148,722 (GRCm39) |
unclassified |
probably benign |
|
|
R1860:Ccdc175
|
UTSW |
12 |
72,152,700 (GRCm39) |
missense |
probably benign |
|
|
R2077:Ccdc175
|
UTSW |
12 |
72,186,794 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3806:Ccdc175
|
UTSW |
12 |
72,227,598 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3879:Ccdc175
|
UTSW |
12 |
72,182,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3887:Ccdc175
|
UTSW |
12 |
72,182,822 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4557:Ccdc175
|
UTSW |
12 |
72,175,080 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4585:Ccdc175
|
UTSW |
12 |
72,221,953 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4686:Ccdc175
|
UTSW |
12 |
72,159,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Ccdc175
|
UTSW |
12 |
72,158,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4773:Ccdc175
|
UTSW |
12 |
72,182,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4909:Ccdc175
|
UTSW |
12 |
72,206,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Ccdc175
|
UTSW |
12 |
72,227,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5338:Ccdc175
|
UTSW |
12 |
72,231,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5539:Ccdc175
|
UTSW |
12 |
72,191,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5897:Ccdc175
|
UTSW |
12 |
72,206,578 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6128:Ccdc175
|
UTSW |
12 |
72,175,933 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6520:Ccdc175
|
UTSW |
12 |
72,186,804 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6523:Ccdc175
|
UTSW |
12 |
72,191,565 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6917:Ccdc175
|
UTSW |
12 |
72,231,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:Ccdc175
|
UTSW |
12 |
72,202,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7097:Ccdc175
|
UTSW |
12 |
72,175,183 (GRCm39) |
splice site |
probably null |
|
|
R7339:Ccdc175
|
UTSW |
12 |
72,182,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Ccdc175
|
UTSW |
12 |
72,202,447 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7481:Ccdc175
|
UTSW |
12 |
72,202,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8045:Ccdc175
|
UTSW |
12 |
72,202,676 (GRCm39) |
intron |
probably benign |
|
|
R8383:Ccdc175
|
UTSW |
12 |
72,155,952 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8470:Ccdc175
|
UTSW |
12 |
72,202,392 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9211:Ccdc175
|
UTSW |
12 |
72,153,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9739:Ccdc175
|
UTSW |
12 |
72,186,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Ccdc175
|
UTSW |
12 |
72,175,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Ccdc175
|
UTSW |
12 |
72,159,082 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTAGTCCCCGAGTCTGCTC -3'
(R):5'- TGCCTCTGCAGAATTGTAACC -3'
Sequencing Primer
(F):5'- CATGGCAACTCTGAAGACTTCTACTG -3'
(R):5'- CTCTGCAGAATTGTAACCTTTTTATC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation