Incidental Mutation 'RF017:Ccdc170'
| ID |
603629 |
| 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 # |
RF017 (G1)
|
| Quality Score |
178.468 |
|
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) |
CCA to CCAGCA
at 4511024 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: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
100% (29/29) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
ACCACC |
ACCACCACC |
4: 132,790,062 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCCGCGGC |
18: 36,693,962 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| AY358078 |
T |
TAGGATAATGA |
14: 52,043,050 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
AAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
AAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
5: 123,391,953 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
C |
A |
2: 35,065,201 (GRCm39) |
D2168E |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,570,849 (GRCm39) |
R195S |
probably benign |
Het |
| Dnmt1 |
AGCACAGTTCCTACCTCGTT |
AGCACAGTTCCTACCTCGTTTTGGGGGCGGCGCACAGTTCCTACCTCGTT |
9: 20,821,422 (GRCm39) |
|
probably null |
Het |
| Elp6 |
A |
T |
9: 110,148,777 (GRCm39) |
H222L |
probably damaging |
Het |
| Entpd2 |
CTT |
CTTT |
2: 25,290,907 (GRCm39) |
|
probably null |
Het |
| Fgf22 |
A |
G |
10: 79,592,680 (GRCm39) |
H125R |
probably benign |
Het |
| Galnt18 |
G |
A |
7: 111,198,221 (GRCm39) |
R180C |
probably damaging |
Het |
| Garin5a |
GTCTGAGGGAGGA |
GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGATCTGAGGGAGGA |
7: 44,149,949 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GGGAGGA |
GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA |
7: 44,149,955 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG |
19: 11,489,106 (GRCm39) |
|
probably null |
Het |
| Gpsm1 |
C |
A |
2: 26,214,884 (GRCm39) |
H288Q |
probably damaging |
Het |
| Ipo7 |
A |
G |
7: 109,648,001 (GRCm39) |
I628V |
probably benign |
Het |
| Irag2 |
GCACATTG |
GCACATTGATCACATTG |
6: 145,119,510 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
C |
T |
1: 180,160,887 (GRCm39) |
R338W |
probably damaging |
Het |
| Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,859 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGCCACAG |
CCACCACAGCCACAGTCACCACAGCCACAG |
1: 83,019,987 (GRCm39) |
|
probably benign |
Het |
| Krtap4-2 |
CAGCAGGGGCGGCA |
C |
11: 99,525,543 (GRCm39) |
|
probably null |
Het |
| Krtap4-9 |
TGCTGTGTGTCCAGCTGCTGCAG |
TGCTGTGTGTCCAGCTGCTGCAGGCCCAGCGGCTGTGTGTCCAGCTGCTGCAG |
11: 99,676,225 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
G |
T |
13: 9,173,946 (GRCm39) |
G30V |
probably benign |
Het |
| Map1a |
CTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGGTCCAGCTCCA |
2: 121,136,789 (GRCm39) |
|
probably benign |
Het |
| Mccc2 |
A |
C |
13: 100,136,796 (GRCm39) |
V53G |
probably damaging |
Het |
| Meiosin |
T |
C |
7: 18,836,354 (GRCm39) |
N291S |
unknown |
Het |
| Mug1 |
T |
A |
6: 121,861,533 (GRCm39) |
Y1332N |
probably damaging |
Het |
| Nalf2 |
GCCGCC |
GCCGCCACCGCC |
X: 98,864,971 (GRCm39) |
|
probably benign |
Het |
| Ndnf |
A |
G |
6: 65,681,313 (GRCm39) |
T531A |
probably damaging |
Het |
| Ntsr2 |
T |
G |
12: 16,709,766 (GRCm39) |
V349G |
probably damaging |
Het |
| Or2g25 |
A |
T |
17: 37,970,672 (GRCm39) |
I184N |
probably damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,467 (GRCm39) |
I331N |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,138,577 (GRCm39) |
S69P |
possibly damaging |
Het |
| Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,741,446 (GRCm39) |
D2353G |
probably benign |
Het |
| Rasa2 |
GCC |
GCCCCC |
9: 96,513,521 (GRCm39) |
|
probably benign |
Het |
| Raver2 |
A |
T |
4: 100,960,195 (GRCm39) |
D225V |
probably damaging |
Het |
| Rph3a |
A |
T |
5: 121,100,562 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
A |
9: 57,034,610 (GRCm39) |
V1261E |
possibly damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,323,812 (GRCm39) |
I368F |
probably damaging |
Het |
| Spaca1 |
CTCGC |
CTCGCTGTCGC |
4: 34,049,853 (GRCm39) |
|
probably benign |
Het |
| Spata31h1 |
AA |
AACTGTCA |
10: 82,126,826 (GRCm39) |
|
probably benign |
Het |
| Strn |
C |
CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTG |
17: 78,984,717 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
C |
1: 187,995,666 (GRCm39) |
T146P |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,509,849 (GRCm39) |
L440P |
probably damaging |
Het |
| Xpnpep1 |
T |
A |
19: 53,020,491 (GRCm39) |
I24L |
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 |
|
|
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'- CTATTGTTGTTGCACTTGACCCAG -3'
(R):5'- GTCACACACTATGGCTGAATTTC -3'
Sequencing Primer
(F):5'- GTTGCACTTGACCCAGCAATG -3'
(R):5'- CACAACTGGAGAATCGTAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation