Incidental Mutation 'R3879:Ccdc175'
| ID |
308689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc175
|
| Ensembl Gene |
ENSMUSG00000021086 |
| Gene Name |
coiled-coil domain containing 175 |
| Synonyms |
4930403N07Rik |
| MMRRC Submission |
040793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72148074-72231803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72182792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Isoleucine
at position 409
(R409I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021494]
|
| AlphaFold |
E9PVB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021494
AA Change: R409I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: R409I
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,970,561 (GRCm39) |
|
probably benign |
Het |
| Aass |
G |
A |
6: 23,122,520 (GRCm39) |
H68Y |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,754,051 (GRCm39) |
K1588N |
possibly damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,615,823 (GRCm39) |
D601G |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,179 (GRCm39) |
V242A |
possibly damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,029 (GRCm39) |
F705L |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,324,389 (GRCm39) |
T389A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,360 (GRCm39) |
|
probably benign |
Het |
| Gm9894 |
T |
C |
13: 67,912,916 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,837,436 (GRCm39) |
V1262E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,092,780 (GRCm39) |
T1245A |
probably damaging |
Het |
| Or10ad1b |
C |
T |
15: 98,125,085 (GRCm39) |
C147Y |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,613 (GRCm39) |
Y236C |
probably damaging |
Het |
| Pcif1 |
G |
A |
2: 164,727,878 (GRCm39) |
G189D |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,375,594 (GRCm39) |
S1514P |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
| Pramex1 |
T |
C |
X: 134,514,194 (GRCm39) |
H365R |
probably benign |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rasgrp2 |
A |
T |
19: 6,463,920 (GRCm39) |
Q539H |
probably benign |
Het |
| Rgs22 |
T |
G |
15: 36,107,051 (GRCm39) |
I112L |
possibly damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,696,969 (GRCm39) |
T786S |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,192,752 (GRCm39) |
|
probably benign |
Het |
| St7l |
G |
A |
3: 104,833,763 (GRCm39) |
V475I |
probably damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,634,765 (GRCm39) |
V713A |
possibly damaging |
Het |
| Trim16 |
G |
A |
11: 62,731,433 (GRCm39) |
G348S |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,962 (GRCm39) |
Q984* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,566,406 (GRCm39) |
|
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,572 (GRCm39) |
Y497* |
probably null |
Het |
| Zfp462 |
G |
A |
4: 55,060,095 (GRCm39) |
C1207Y |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,476 (GRCm39) |
E644G |
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 |
|
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 |
|
R7676:Ccdc175
|
UTSW |
12 |
72,148,821 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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'- CGATCTGATCTTTCTGAACTGC -3'
(R):5'- GCATGCAAAATTTTCTTGCATTGGG -3'
Sequencing Primer
(F):5'- CTGATCTTTCTGAACTGCGAAAC -3'
(R):5'- TCAGTAAAATGACTGCCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation