Incidental Mutation 'R7393:Ccdc170'
ID |
573607 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc170
|
Ensembl Gene |
ENSMUSG00000019767 |
Gene Name |
coiled-coil domain containing 170 |
Synonyms |
Gm221, LOC237250 |
MMRRC Submission |
045475-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
R7393 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 4464314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
[ENSMUST00000145465]
|
AlphaFold |
D3YXL0 |
Predicted Effect |
probably null
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 null
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145465
|
SMART Domains |
Protein: ENSMUSP00000122673 Gene: ENSMUSG00000019767
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
96 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
Abi2 |
T |
C |
1: 60,473,541 (GRCm39) |
M86T |
possibly damaging |
Het |
Adam26a |
T |
C |
8: 44,022,725 (GRCm39) |
N255S |
probably benign |
Het |
Adam4 |
G |
A |
12: 81,466,434 (GRCm39) |
S729L |
probably benign |
Het |
Adcy1 |
G |
T |
11: 7,087,381 (GRCm39) |
W418C |
probably damaging |
Het |
Add2 |
T |
A |
6: 86,075,629 (GRCm39) |
Y259* |
probably null |
Het |
Agl |
A |
T |
3: 116,584,805 (GRCm39) |
C172S |
probably benign |
Het |
Ankfy1 |
A |
G |
11: 72,629,134 (GRCm39) |
T319A |
possibly damaging |
Het |
Armc8 |
A |
T |
9: 99,366,052 (GRCm39) |
C621S |
possibly damaging |
Het |
Atp5mj |
A |
G |
12: 111,929,711 (GRCm39) |
V26A |
probably benign |
Het |
Bbc3 |
A |
G |
7: 16,047,714 (GRCm39) |
D146G |
probably benign |
Het |
Btnl10 |
T |
C |
11: 58,814,532 (GRCm39) |
L404P |
probably damaging |
Het |
Cbl |
A |
G |
9: 44,065,485 (GRCm39) |
|
probably null |
Het |
Ccdc91 |
T |
A |
6: 147,435,527 (GRCm39) |
V37E |
possibly damaging |
Het |
Ces1e |
G |
T |
8: 93,937,045 (GRCm39) |
T343K |
probably benign |
Het |
Chfr |
T |
A |
5: 110,300,224 (GRCm39) |
F323I |
probably damaging |
Het |
Clcnkb |
T |
A |
4: 141,136,756 (GRCm39) |
M370L |
probably benign |
Het |
Col11a1 |
A |
G |
3: 113,890,755 (GRCm39) |
D364G |
unknown |
Het |
Ctbp2 |
A |
G |
7: 132,590,021 (GRCm39) |
I381T |
probably benign |
Het |
Cyp4a29 |
A |
C |
4: 115,099,393 (GRCm39) |
Y38S |
probably damaging |
Het |
Ddx1 |
T |
C |
12: 13,280,354 (GRCm39) |
D382G |
probably benign |
Het |
Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,435,598 (GRCm39) |
D262G |
probably benign |
Het |
Fnbp4 |
C |
A |
2: 90,609,660 (GRCm39) |
Q1035K |
probably damaging |
Het |
Gbp11 |
T |
A |
5: 105,475,443 (GRCm39) |
N302Y |
possibly damaging |
Het |
Gm11554 |
T |
A |
11: 99,694,698 (GRCm39) |
T172S |
unknown |
Het |
Hamp2 |
A |
T |
7: 30,622,030 (GRCm39) |
M53K |
possibly damaging |
Het |
Kcnj1 |
A |
G |
9: 32,308,314 (GRCm39) |
D246G |
probably damaging |
Het |
Kctd20 |
T |
C |
17: 29,182,312 (GRCm39) |
F209L |
probably damaging |
Het |
Klra2 |
T |
C |
6: 131,207,165 (GRCm39) |
Y148C |
probably damaging |
Het |
Krtap15-1 |
T |
C |
16: 88,625,985 (GRCm39) |
|
probably null |
Het |
Mrps23 |
T |
C |
11: 88,095,284 (GRCm39) |
L6P |
probably damaging |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Myo7a |
G |
A |
7: 97,712,906 (GRCm39) |
R1690C |
possibly damaging |
Het |
Nbas |
T |
C |
12: 13,443,493 (GRCm39) |
S1183P |
probably damaging |
Het |
Ndufaf4 |
T |
A |
4: 24,903,177 (GRCm39) |
M122K |
probably benign |
Het |
Nop2 |
C |
A |
6: 125,110,509 (GRCm39) |
S45* |
probably null |
Het |
Nop56 |
T |
A |
2: 130,116,558 (GRCm39) |
L3Q |
probably benign |
Het |
Nrp2 |
T |
C |
1: 62,784,583 (GRCm39) |
I244T |
probably damaging |
Het |
Or4d10c |
T |
A |
19: 12,065,992 (GRCm39) |
T55S |
probably benign |
Het |
Or51v14 |
A |
G |
7: 103,261,198 (GRCm39) |
S121P |
possibly damaging |
Het |
Otof |
T |
C |
5: 30,527,614 (GRCm39) |
D1941G |
probably benign |
Het |
Pcyox1l |
T |
C |
18: 61,830,712 (GRCm39) |
K387E |
probably benign |
Het |
Plcg2 |
A |
G |
8: 118,306,564 (GRCm39) |
Y306C |
possibly damaging |
Het |
Ppp1r13b |
G |
A |
12: 111,805,188 (GRCm39) |
P333S |
probably damaging |
Het |
Rcc2 |
A |
G |
4: 140,444,341 (GRCm39) |
D344G |
probably damaging |
Het |
Reln |
A |
T |
5: 22,181,349 (GRCm39) |
N1810K |
probably damaging |
Het |
Rfesd |
G |
T |
13: 76,151,149 (GRCm39) |
A90E |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
Scg2 |
T |
C |
1: 79,412,948 (GRCm39) |
K552E |
probably damaging |
Het |
Sdccag8 |
A |
G |
1: 176,667,872 (GRCm39) |
I190V |
probably benign |
Het |
Sele |
C |
A |
1: 163,881,492 (GRCm39) |
T533K |
probably benign |
Het |
Sh3bp4 |
T |
A |
1: 89,072,170 (GRCm39) |
H339Q |
possibly damaging |
Het |
Slc6a19 |
A |
G |
13: 73,841,093 (GRCm39) |
S106P |
probably benign |
Het |
Spidr |
C |
T |
16: 15,964,695 (GRCm39) |
|
probably benign |
Het |
Stk36 |
A |
T |
1: 74,650,352 (GRCm39) |
K295* |
probably null |
Het |
Synj1 |
A |
T |
16: 90,748,887 (GRCm39) |
D1056E |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,893,210 (GRCm39) |
S1046P |
probably benign |
Het |
Ttc27 |
T |
G |
17: 75,077,259 (GRCm39) |
F385V |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,774,689 (GRCm39) |
G2164W |
unknown |
Het |
Ubap1 |
T |
A |
4: 41,379,764 (GRCm39) |
L326* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,154,096 (GRCm39) |
N812S |
probably damaging |
Het |
Vmn1r160 |
A |
G |
7: 22,570,778 (GRCm39) |
T44A |
possibly damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,574 (GRCm39) |
S139N |
possibly damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,605,099 (GRCm39) |
I137M |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,805,086 (GRCm39) |
W9R |
probably null |
Het |
Zfp101 |
T |
C |
17: 33,605,674 (GRCm39) |
N45D |
possibly damaging |
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 |
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'- CCAGAAAGTCAGCTCTCCTC -3'
(R):5'- AAGGTTCTACGCTTGCAAAAGAC -3'
Sequencing Primer
(F):5'- GAAAGTCAGCTCTCCTCACGTC -3'
(R):5'- GCTTGCAAAAGACAACACTGTGTTTG -3'
|
Posted On |
2019-09-13 |