Incidental Mutation 'R4950:Ccdc73'
| ID |
381898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc73
|
| Ensembl Gene |
ENSMUSG00000045106 |
| Gene Name |
coiled-coil domain containing 73 |
| Synonyms |
2210415I11Rik |
| MMRRC Submission |
042547-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4950 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104716669-104830082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 104822711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 887
(I887L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111114]
[ENSMUST00000151764]
|
| AlphaFold |
Q8CDM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111114
AA Change: I887L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: I887L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
Pfam:CCDC73
|
27 |
1061 |
N/A |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144358
AA Change: I59L
|
| SMART Domains |
Protein: ENSMUSP00000114374
Gene: ENSMUSG00000045106
AA Change: I59L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC73
|
1 |
182 |
3.1e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151764
|
| SMART Domains |
Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
coiled coil region
|
48 |
134 |
N/A |
INTRINSIC |
|
coiled coil region
|
178 |
381 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
T |
2: 154,153,579 (GRCm39) |
D215V |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,252,872 (GRCm39) |
E625G |
probably damaging |
Het |
| Cage1 |
C |
T |
13: 38,207,302 (GRCm39) |
S181N |
possibly damaging |
Het |
| Cfap65 |
T |
A |
1: 74,945,495 (GRCm39) |
K1408* |
probably null |
Het |
| Cngb1 |
C |
A |
8: 95,975,135 (GRCm39) |
G654W |
probably damaging |
Het |
| Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
| Ddi1 |
A |
G |
9: 6,266,073 (GRCm39) |
S99P |
probably benign |
Het |
| Disp3 |
A |
T |
4: 148,342,583 (GRCm39) |
D622E |
possibly damaging |
Het |
| Dnajc22 |
G |
A |
15: 98,999,615 (GRCm39) |
V267I |
probably benign |
Het |
| Dph5 |
G |
A |
3: 115,722,292 (GRCm39) |
G257S |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,733 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
C |
15: 99,839,534 (GRCm39) |
R2237G |
unknown |
Het |
| Fez1 |
G |
A |
9: 36,779,178 (GRCm39) |
R285Q |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,777,276 (GRCm39) |
H101L |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,807,758 (GRCm39) |
C1359Y |
probably benign |
Het |
| Fxyd7 |
G |
A |
7: 30,746,815 (GRCm39) |
T15I |
probably benign |
Het |
| Gpr155 |
A |
T |
2: 73,212,529 (GRCm39) |
D31E |
probably benign |
Het |
| Iho1 |
A |
C |
9: 108,298,709 (GRCm39) |
S36R |
probably damaging |
Het |
| Irx6 |
A |
T |
8: 93,405,428 (GRCm39) |
Y432F |
probably damaging |
Het |
| Itih5 |
A |
C |
2: 10,239,892 (GRCm39) |
I340L |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,822,572 (GRCm39) |
L164S |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,845,274 (GRCm39) |
I490T |
probably damaging |
Het |
| Mef2b |
T |
C |
8: 70,619,846 (GRCm39) |
Y311H |
probably damaging |
Het |
| Mras |
A |
T |
9: 99,276,537 (GRCm39) |
L111Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,276,091 (GRCm39) |
D475G |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,645,273 (GRCm39) |
I1155T |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
G |
A |
9: 19,695,027 (GRCm39) |
M199I |
probably benign |
Het |
| Or8b38 |
T |
C |
9: 37,973,297 (GRCm39) |
I227T |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,768,377 (GRCm39) |
I186F |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,283 (GRCm39) |
V421E |
probably benign |
Het |
| Pck1 |
T |
A |
2: 172,996,620 (GRCm39) |
I178K |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,578,569 (GRCm39) |
K836E |
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,058,752 (GRCm39) |
|
probably null |
Het |
| Pwp2 |
A |
G |
10: 78,018,840 (GRCm39) |
Y56H |
probably benign |
Het |
| Rarb |
G |
A |
14: 16,432,085 (GRCm38) |
|
probably benign |
Het |
| Rpain |
C |
G |
11: 70,861,747 (GRCm39) |
H50Q |
probably benign |
Het |
| Rps9 |
CTGTTTG |
CTG |
7: 3,707,758 (GRCm39) |
|
probably null |
Het |
| Rubcn |
A |
T |
16: 32,663,563 (GRCm39) |
S358T |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,756,897 (GRCm39) |
R1586C |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,730 (GRCm39) |
I669V |
probably benign |
Het |
| Slx1b |
T |
C |
7: 126,290,939 (GRCm39) |
|
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,106,485 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,233,700 (GRCm39) |
I288V |
possibly damaging |
Het |
| Tlr2 |
C |
A |
3: 83,744,639 (GRCm39) |
E481D |
probably damaging |
Het |
| Trim17 |
A |
T |
11: 58,861,254 (GRCm39) |
D253V |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,227 (GRCm39) |
D429G |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,169,090 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
A |
G |
1: 37,124,413 (GRCm39) |
Q337R |
probably benign |
Het |
| Zfp113 |
T |
C |
5: 138,143,734 (GRCm39) |
N172S |
probably benign |
Het |
| Zfp607a |
T |
A |
7: 27,578,176 (GRCm39) |
H415Q |
probably damaging |
Het |
| Zfp87 |
G |
A |
13: 67,666,018 (GRCm39) |
T148I |
probably benign |
Het |
|
| Other mutations in Ccdc73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00679:Ccdc73
|
APN |
2 |
104,824,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01313:Ccdc73
|
APN |
2 |
104,737,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02016:Ccdc73
|
APN |
2 |
104,805,961 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02179:Ccdc73
|
APN |
2 |
104,737,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4304:Ccdc73
|
UTSW |
2 |
104,822,185 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Ccdc73
|
UTSW |
2 |
104,822,185 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03052:Ccdc73
|
UTSW |
2 |
104,782,281 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0010:Ccdc73
|
UTSW |
2 |
104,811,332 (GRCm39) |
splice site |
probably benign |
|
|
R0040:Ccdc73
|
UTSW |
2 |
104,822,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Ccdc73
|
UTSW |
2 |
104,759,915 (GRCm39) |
splice site |
probably benign |
|
|
R0360:Ccdc73
|
UTSW |
2 |
104,811,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Ccdc73
|
UTSW |
2 |
104,821,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0715:Ccdc73
|
UTSW |
2 |
104,803,499 (GRCm39) |
splice site |
probably benign |
|
|
R0839:Ccdc73
|
UTSW |
2 |
104,821,442 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1129:Ccdc73
|
UTSW |
2 |
104,822,535 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1240:Ccdc73
|
UTSW |
2 |
104,821,906 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1478:Ccdc73
|
UTSW |
2 |
104,745,012 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1478:Ccdc73
|
UTSW |
2 |
104,737,955 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1695:Ccdc73
|
UTSW |
2 |
104,822,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Ccdc73
|
UTSW |
2 |
104,822,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Ccdc73
|
UTSW |
2 |
104,757,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1987:Ccdc73
|
UTSW |
2 |
104,829,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Ccdc73
|
UTSW |
2 |
104,761,390 (GRCm39) |
nonsense |
probably null |
|
|
R2938:Ccdc73
|
UTSW |
2 |
104,805,980 (GRCm39) |
nonsense |
probably null |
|
|
R3420:Ccdc73
|
UTSW |
2 |
104,782,293 (GRCm39) |
splice site |
probably null |
|
|
R3420:Ccdc73
|
UTSW |
2 |
104,782,292 (GRCm39) |
missense |
probably null |
1.00 |
|
R3422:Ccdc73
|
UTSW |
2 |
104,782,293 (GRCm39) |
splice site |
probably null |
|
|
R3422:Ccdc73
|
UTSW |
2 |
104,782,292 (GRCm39) |
missense |
probably null |
1.00 |
|
R3522:Ccdc73
|
UTSW |
2 |
104,821,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:Ccdc73
|
UTSW |
2 |
104,821,688 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4279:Ccdc73
|
UTSW |
2 |
104,815,355 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4791:Ccdc73
|
UTSW |
2 |
104,811,450 (GRCm39) |
splice site |
probably null |
|
|
R4793:Ccdc73
|
UTSW |
2 |
104,848,127 (GRCm39) |
splice site |
probably null |
|
|
R4939:Ccdc73
|
UTSW |
2 |
104,822,502 (GRCm39) |
splice site |
probably null |
|
|
R5093:Ccdc73
|
UTSW |
2 |
104,848,111 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5150:Ccdc73
|
UTSW |
2 |
104,822,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5381:Ccdc73
|
UTSW |
2 |
104,820,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Ccdc73
|
UTSW |
2 |
104,761,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6148:Ccdc73
|
UTSW |
2 |
104,822,482 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6269:Ccdc73
|
UTSW |
2 |
104,737,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Ccdc73
|
UTSW |
2 |
104,822,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6753:Ccdc73
|
UTSW |
2 |
104,821,869 (GRCm39) |
nonsense |
probably null |
|
|
R7062:Ccdc73
|
UTSW |
2 |
104,782,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Ccdc73
|
UTSW |
2 |
104,803,569 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7320:Ccdc73
|
UTSW |
2 |
104,829,521 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7436:Ccdc73
|
UTSW |
2 |
104,782,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7530:Ccdc73
|
UTSW |
2 |
104,824,915 (GRCm39) |
missense |
|
|
|
R7747:Ccdc73
|
UTSW |
2 |
104,759,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7952:Ccdc73
|
UTSW |
2 |
104,775,801 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8178:Ccdc73
|
UTSW |
2 |
104,821,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8824:Ccdc73
|
UTSW |
2 |
104,822,222 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8927:Ccdc73
|
UTSW |
2 |
104,822,542 (GRCm39) |
missense |
|
|
|
R8928:Ccdc73
|
UTSW |
2 |
104,822,542 (GRCm39) |
missense |
|
|
|
R8945:Ccdc73
|
UTSW |
2 |
104,821,712 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9365:Ccdc73
|
UTSW |
2 |
104,738,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ccdc73
|
UTSW |
2 |
104,822,584 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGCATGTGGCTGAATAAC -3'
(R):5'- AAGCATGGCCTTGTTTTCTTAC -3'
Sequencing Primer
(F):5'- CAGAGACAAAACAGAGGCATTAAAC -3'
(R):5'- GCATGGCCTTGTTTTCTTACCTGAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation