Incidental Mutation 'R5911:Ccdc170'
ID |
461006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc170
|
Ensembl Gene |
ENSMUSG00000019767 |
Gene Name |
coiled-coil domain containing 170 |
Synonyms |
Gm221, LOC237250 |
MMRRC Submission |
044108-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
R5911 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 4508551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 592
(E592*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
|
AlphaFold |
D3YXL0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000019901
AA Change: E586*
|
SMART Domains |
Protein: ENSMUSP00000019901 Gene: ENSMUSG00000019767 AA Change: E586*
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
160 |
N/A |
INTRINSIC |
coiled coil region
|
264 |
302 |
N/A |
INTRINSIC |
low complexity region
|
345 |
357 |
N/A |
INTRINSIC |
coiled coil region
|
379 |
415 |
N/A |
INTRINSIC |
coiled coil region
|
475 |
649 |
N/A |
INTRINSIC |
low complexity region
|
678 |
690 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000138112
AA Change: E592*
|
SMART Domains |
Protein: ENSMUSP00000115997 Gene: ENSMUSG00000019767 AA Change: E592*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
internal_repeat_1
|
80 |
93 |
6.25e-5 |
PROSPERO |
internal_repeat_1
|
305 |
318 |
6.25e-5 |
PROSPERO |
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
coiled coil region
|
385 |
421 |
N/A |
INTRINSIC |
coiled coil region
|
481 |
655 |
N/A |
INTRINSIC |
low complexity region
|
684 |
696 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
92% (77/84) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
C |
T |
3: 124,350,380 (GRCm39) |
|
probably benign |
Het |
Acacb |
A |
T |
5: 114,370,951 (GRCm39) |
D1731V |
probably damaging |
Het |
Afg3l1 |
G |
A |
8: 124,226,778 (GRCm39) |
V563I |
possibly damaging |
Het |
Ak7 |
A |
G |
12: 105,692,471 (GRCm39) |
E175G |
probably damaging |
Het |
Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
Arid4a |
A |
T |
12: 71,116,747 (GRCm39) |
T602S |
probably damaging |
Het |
Caps2 |
C |
T |
10: 112,001,591 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
C |
A |
1: 118,434,638 (GRCm39) |
|
probably benign |
Het |
Crhbp |
T |
A |
13: 95,568,564 (GRCm39) |
M291L |
probably benign |
Het |
Cyp3a41b |
T |
A |
5: 145,519,349 (GRCm39) |
L47F |
probably benign |
Het |
Dgcr6 |
A |
G |
16: 17,884,598 (GRCm39) |
D82G |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,800,754 (GRCm39) |
E592G |
probably damaging |
Het |
Dtl |
G |
A |
1: 191,300,519 (GRCm39) |
T115I |
probably damaging |
Het |
Ece2 |
A |
G |
16: 20,457,510 (GRCm39) |
Y338C |
probably damaging |
Het |
Egr3 |
A |
G |
14: 70,316,897 (GRCm39) |
D198G |
probably damaging |
Het |
Ereg |
A |
C |
5: 91,222,552 (GRCm39) |
|
probably benign |
Het |
Esp31 |
G |
C |
17: 38,951,933 (GRCm39) |
|
probably null |
Het |
Faap100 |
T |
C |
11: 120,267,958 (GRCm39) |
I272V |
possibly damaging |
Het |
Fam3c |
T |
C |
6: 22,328,560 (GRCm39) |
D109G |
probably damaging |
Het |
Fam3c |
T |
A |
6: 22,339,299 (GRCm39) |
M51L |
probably benign |
Het |
Fcnb |
A |
T |
2: 27,966,701 (GRCm39) |
N277K |
probably damaging |
Het |
Fgfr1 |
A |
G |
8: 26,009,325 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,373,932 (GRCm39) |
F289S |
possibly damaging |
Het |
Grik4 |
C |
A |
9: 42,502,720 (GRCm39) |
V468F |
probably damaging |
Het |
Gtdc1 |
T |
A |
2: 44,642,076 (GRCm39) |
R168S |
probably benign |
Het |
Gucy2c |
C |
T |
6: 136,699,440 (GRCm39) |
G610R |
probably damaging |
Het |
Gulp1 |
A |
T |
1: 44,793,534 (GRCm39) |
Q65L |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,849,035 (GRCm39) |
D356E |
probably damaging |
Het |
Hnrnpu |
T |
C |
1: 178,157,737 (GRCm39) |
|
probably benign |
Het |
Igkv13-57-2 |
T |
C |
6: 69,500,971 (GRCm39) |
|
noncoding transcript |
Het |
Itih4 |
A |
G |
14: 30,612,612 (GRCm39) |
I213V |
possibly damaging |
Het |
Itpr2 |
T |
C |
6: 146,214,441 (GRCm39) |
K1469E |
probably benign |
Het |
Jkampl |
T |
C |
6: 73,445,674 (GRCm39) |
T292A |
probably damaging |
Het |
Jrk |
T |
C |
15: 74,577,617 (GRCm39) |
D556G |
possibly damaging |
Het |
Kctd16 |
A |
T |
18: 40,663,905 (GRCm39) |
I345F |
probably benign |
Het |
Klhdc1 |
A |
G |
12: 69,303,025 (GRCm39) |
E187G |
possibly damaging |
Het |
Lrch3 |
T |
C |
16: 32,779,833 (GRCm39) |
Y111H |
probably damaging |
Het |
Mlh3 |
A |
T |
12: 85,315,229 (GRCm39) |
V319D |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,156,092 (GRCm39) |
L553P |
probably damaging |
Het |
Or1e23 |
T |
A |
11: 73,407,351 (GRCm39) |
I225F |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,628,915 (GRCm39) |
H172L |
probably benign |
Het |
Or5d38 |
C |
T |
2: 87,955,027 (GRCm39) |
V101I |
probably benign |
Het |
Or5e1 |
T |
A |
7: 108,354,882 (GRCm39) |
I273N |
probably benign |
Het |
Or5p66 |
T |
A |
7: 107,885,605 (GRCm39) |
T243S |
probably damaging |
Het |
Or7g26 |
T |
C |
9: 19,230,445 (GRCm39) |
I205T |
probably benign |
Het |
Pelp1 |
C |
T |
11: 70,287,740 (GRCm39) |
R394H |
probably damaging |
Het |
Ppp1r13l |
G |
T |
7: 19,109,817 (GRCm39) |
|
probably null |
Het |
Prr5 |
C |
A |
15: 84,585,635 (GRCm39) |
S201* |
probably null |
Het |
Rad23b |
T |
A |
4: 55,370,474 (GRCm39) |
|
probably null |
Het |
Rasgef1a |
T |
A |
6: 118,061,335 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,738,832 (GRCm39) |
I565N |
probably damaging |
Het |
Slc30a5 |
T |
C |
13: 100,945,600 (GRCm39) |
N527S |
probably damaging |
Het |
Slc39a5 |
T |
A |
10: 128,235,812 (GRCm39) |
N49Y |
probably damaging |
Het |
Spast |
T |
A |
17: 74,694,058 (GRCm39) |
S571T |
probably benign |
Het |
Spdye4c |
C |
T |
2: 128,437,994 (GRCm39) |
R245* |
probably null |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tgm7 |
T |
A |
2: 120,926,454 (GRCm39) |
D480V |
probably benign |
Het |
Thpo |
T |
A |
16: 20,547,546 (GRCm39) |
S22C |
probably null |
Het |
Top2a |
T |
A |
11: 98,907,291 (GRCm39) |
T180S |
possibly damaging |
Het |
Trim37 |
T |
A |
11: 87,087,663 (GRCm39) |
Y34* |
probably null |
Het |
Tsc2 |
T |
C |
17: 24,819,361 (GRCm39) |
E1254G |
possibly damaging |
Het |
Ttc39a |
C |
T |
4: 109,280,168 (GRCm39) |
P150L |
possibly damaging |
Het |
Ttc4 |
T |
C |
4: 106,525,240 (GRCm39) |
D298G |
probably damaging |
Het |
Ttll1 |
A |
G |
15: 83,386,482 (GRCm39) |
V41A |
probably benign |
Het |
Vmn1r20 |
C |
A |
6: 57,408,774 (GRCm39) |
H33Q |
probably benign |
Het |
Zan |
A |
T |
5: 137,456,174 (GRCm39) |
Y1329N |
unknown |
Het |
|
Other mutations in Ccdc170 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Ccdc170
|
APN |
10 |
4,496,836 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01018:Ccdc170
|
APN |
10 |
4,464,114 (GRCm39) |
missense |
probably benign |
|
IGL01018:Ccdc170
|
APN |
10 |
4,462,788 (GRCm39) |
missense |
probably benign |
|
IGL01018:Ccdc170
|
APN |
10 |
4,464,155 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01114:Ccdc170
|
APN |
10 |
4,508,550 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01377:Ccdc170
|
APN |
10 |
4,510,966 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01726:Ccdc170
|
APN |
10 |
4,499,713 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02110:Ccdc170
|
APN |
10 |
4,491,885 (GRCm39) |
splice site |
probably null |
|
FR4304:Ccdc170
|
UTSW |
10 |
4,511,021 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Ccdc170
|
UTSW |
10 |
4,511,029 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Ccdc170
|
UTSW |
10 |
4,511,023 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Ccdc170
|
UTSW |
10 |
4,511,029 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Ccdc170
|
UTSW |
10 |
4,511,008 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Ccdc170
|
UTSW |
10 |
4,511,023 (GRCm39) |
small insertion |
probably benign |
|
R0137:Ccdc170
|
UTSW |
10 |
4,496,950 (GRCm39) |
splice site |
probably benign |
|
R0280:Ccdc170
|
UTSW |
10 |
4,508,663 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0480:Ccdc170
|
UTSW |
10 |
4,468,939 (GRCm39) |
missense |
probably benign |
0.00 |
R1786:Ccdc170
|
UTSW |
10 |
4,469,043 (GRCm39) |
missense |
probably benign |
0.02 |
R2383:Ccdc170
|
UTSW |
10 |
4,484,208 (GRCm39) |
missense |
probably benign |
0.00 |
R3031:Ccdc170
|
UTSW |
10 |
4,468,931 (GRCm39) |
missense |
probably damaging |
0.99 |
R3797:Ccdc170
|
UTSW |
10 |
4,510,920 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4494:Ccdc170
|
UTSW |
10 |
4,464,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Ccdc170
|
UTSW |
10 |
4,468,971 (GRCm39) |
missense |
probably damaging |
0.96 |
R5152:Ccdc170
|
UTSW |
10 |
4,511,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R5170:Ccdc170
|
UTSW |
10 |
4,464,200 (GRCm39) |
missense |
probably damaging |
0.99 |
R5354:Ccdc170
|
UTSW |
10 |
4,484,188 (GRCm39) |
missense |
probably benign |
0.16 |
R5983:Ccdc170
|
UTSW |
10 |
4,470,851 (GRCm39) |
nonsense |
probably null |
|
R6374:Ccdc170
|
UTSW |
10 |
4,499,746 (GRCm39) |
nonsense |
probably null |
|
R6645:Ccdc170
|
UTSW |
10 |
4,510,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6818:Ccdc170
|
UTSW |
10 |
4,491,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R6888:Ccdc170
|
UTSW |
10 |
4,496,854 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7032:Ccdc170
|
UTSW |
10 |
4,432,597 (GRCm39) |
missense |
unknown |
|
R7206:Ccdc170
|
UTSW |
10 |
4,464,120 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7393:Ccdc170
|
UTSW |
10 |
4,464,314 (GRCm39) |
critical splice donor site |
probably null |
|
R7438:Ccdc170
|
UTSW |
10 |
4,508,512 (GRCm39) |
nonsense |
probably null |
|
R7471:Ccdc170
|
UTSW |
10 |
4,470,803 (GRCm39) |
missense |
probably benign |
0.00 |
R7514:Ccdc170
|
UTSW |
10 |
4,496,839 (GRCm39) |
missense |
probably benign |
0.37 |
R7818:Ccdc170
|
UTSW |
10 |
4,499,603 (GRCm39) |
missense |
probably benign |
0.05 |
R8942:Ccdc170
|
UTSW |
10 |
4,484,044 (GRCm39) |
missense |
probably benign |
0.07 |
R9069:Ccdc170
|
UTSW |
10 |
4,511,016 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9355:Ccdc170
|
UTSW |
10 |
4,508,695 (GRCm39) |
missense |
probably benign |
0.17 |
R9790:Ccdc170
|
UTSW |
10 |
4,483,957 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9791:Ccdc170
|
UTSW |
10 |
4,483,957 (GRCm39) |
critical splice acceptor site |
probably null |
|
RF006:Ccdc170
|
UTSW |
10 |
4,511,030 (GRCm39) |
small insertion |
probably benign |
|
RF009:Ccdc170
|
UTSW |
10 |
4,511,030 (GRCm39) |
small insertion |
probably benign |
|
RF011:Ccdc170
|
UTSW |
10 |
4,511,018 (GRCm39) |
small insertion |
probably benign |
|
RF017:Ccdc170
|
UTSW |
10 |
4,511,024 (GRCm39) |
small insertion |
probably benign |
|
RF023:Ccdc170
|
UTSW |
10 |
4,511,018 (GRCm39) |
small insertion |
probably benign |
|
RF024:Ccdc170
|
UTSW |
10 |
4,511,024 (GRCm39) |
small insertion |
probably benign |
|
RF025:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
RF027:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
RF029:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
RF050:Ccdc170
|
UTSW |
10 |
4,511,008 (GRCm39) |
small insertion |
probably benign |
|
RF064:Ccdc170
|
UTSW |
10 |
4,511,025 (GRCm39) |
small insertion |
probably benign |
|
Z1177:Ccdc170
|
UTSW |
10 |
4,459,884 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGACTGAAGTCATGCTTATCCAGC -3'
(R):5'- TCTCCGCTTCATCCAAAGAC -3'
Sequencing Primer
(F):5'- CATAGCTGCTTGGGATGAAGTC -3'
(R):5'- AAAGACTTCCTCAGGGTCTTCAG -3'
|
Posted On |
2017-02-28 |