Incidental Mutation 'RF029:Ccdc170'
ID |
604282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc170
|
Ensembl Gene |
ENSMUSG00000019767 |
Gene Name |
coiled-coil domain containing 170 |
Synonyms |
Gm221, LOC237250 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
RF029 (G1)
|
Quality Score |
154.468 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
Type of Mutation |
small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
ACC to ACCGCC
at 4511026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
|
AlphaFold |
D3YXL0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019901
|
SMART Domains |
Protein: ENSMUSP00000019901 Gene: ENSMUSG00000019767
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 benign
Transcript: ENSMUST00000138112
|
SMART Domains |
Protein: ENSMUSP00000115997 Gene: ENSMUSG00000019767
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,529,858 (GRCm39) |
|
probably benign |
Het |
Abca17 |
T |
TCCCTC |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
C1s1 |
CCCATGGCTC |
CC |
6: 124,518,310 (GRCm39) |
|
probably null |
Het |
Cacna1a |
CCA |
CCAACA |
8: 85,365,353 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,821,419 (GRCm39) |
|
probably null |
Het |
Eed |
C |
A |
7: 89,604,240 (GRCm39) |
A411S |
probably benign |
Het |
Exd2 |
CCACAGC |
CC |
12: 80,522,720 (GRCm39) |
|
probably null |
Het |
Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,665 (GRCm39) |
|
probably benign |
Het |
Gm47955 |
G |
GTTGTGGCTT |
1: 82,938,248 (GRCm39) |
|
probably benign |
Het |
Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,755,850 (GRCm39) |
|
probably null |
Het |
Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,060,268 (GRCm39) |
|
probably benign |
Het |
Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,019,991 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,339,372 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,458,086 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
Polr1has |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 37,275,963 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,015 (GRCm39) |
|
probably benign |
Het |
Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
Tcof1 |
CAG |
CAGAAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
AGC |
AGCGGC |
18: 60,968,817 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
probably benign |
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 |
R5911:Ccdc170
|
UTSW |
10 |
4,508,551 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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'- CACTTGACCCAGCAATGGTG -3'
(R):5'- CACTTTGGGAGATCTTTTCACAGG -3'
Sequencing Primer
(F):5'- CAGCAATGGTGGTGTGTTTTTG -3'
(R):5'- GTCACACACTATGGCTGAATTTC -3'
|
Posted On |
2019-12-04 |