Incidental Mutation 'R1240:Ccdc73'
| ID |
151914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc73
|
| Ensembl Gene |
ENSMUSG00000045106 |
| Gene Name |
coiled-coil domain containing 73 |
| Synonyms |
2210415I11Rik |
| MMRRC Submission |
039307-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R1240 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
104716669-104830082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104821906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 618
(E618D)
|
| 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: E618D
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: E618D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
Pfam:CCDC73
|
27 |
1061 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144358
|
| SMART Domains |
Protein: ENSMUSP00000114374
Gene: ENSMUSG00000045106
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
G |
5: 124,227,984 (GRCm39) |
I86L |
probably benign |
Het |
| Ankfn1 |
A |
G |
11: 89,282,960 (GRCm39) |
L229P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,549 (GRCm39) |
S164P |
probably benign |
Het |
| Arhgef28 |
C |
T |
13: 98,066,000 (GRCm39) |
V1618I |
probably benign |
Het |
| Arpc3 |
T |
C |
5: 122,542,242 (GRCm39) |
F88S |
probably damaging |
Het |
| Asgr2 |
G |
T |
11: 69,987,676 (GRCm39) |
R58L |
possibly damaging |
Het |
| Bach2 |
T |
C |
4: 32,563,198 (GRCm39) |
F432S |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,891,293 (GRCm39) |
R116S |
probably damaging |
Het |
| Casp2 |
T |
A |
6: 42,245,879 (GRCm39) |
C179S |
probably damaging |
Het |
| Cdh6 |
T |
A |
15: 13,057,541 (GRCm39) |
D260V |
possibly damaging |
Het |
| Cenpc1 |
G |
T |
5: 86,183,369 (GRCm39) |
N473K |
probably benign |
Het |
| Chst2 |
T |
C |
9: 95,287,536 (GRCm39) |
E270G |
possibly damaging |
Het |
| Chst9 |
C |
T |
18: 15,586,231 (GRCm39) |
E111K |
probably benign |
Het |
| Cyp3a44 |
T |
G |
5: 145,711,250 (GRCm39) |
I474L |
probably benign |
Het |
| Dbr1 |
G |
T |
9: 99,466,073 (GRCm39) |
E550D |
probably benign |
Het |
| Dph6 |
T |
C |
2: 114,475,199 (GRCm39) |
|
probably null |
Het |
| Fam227b |
T |
A |
2: 125,966,505 (GRCm39) |
I136L |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,819,950 (GRCm39) |
N2559S |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,581 (GRCm39) |
I435N |
probably damaging |
Het |
| Gab1 |
A |
C |
8: 81,515,159 (GRCm39) |
S386R |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,326,098 (GRCm39) |
N31Y |
probably damaging |
Het |
| Grk2 |
A |
G |
19: 4,340,707 (GRCm39) |
C251R |
probably damaging |
Het |
| H2-DMa |
G |
T |
17: 34,357,380 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
T |
C |
4: 137,957,009 (GRCm39) |
S63P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,581,174 (GRCm39) |
|
probably null |
Het |
| Inf2 |
G |
A |
12: 112,577,210 (GRCm39) |
R1018Q |
unknown |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Klhl30 |
T |
C |
1: 91,288,737 (GRCm39) |
S499P |
probably benign |
Het |
| Lama2 |
A |
C |
10: 26,917,120 (GRCm39) |
D2268E |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,964,626 (GRCm39) |
N258S |
possibly damaging |
Het |
| Mc1r |
T |
A |
8: 124,134,999 (GRCm39) |
C251S |
probably damaging |
Het |
| Myo15b |
C |
A |
11: 115,771,327 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,456,176 (GRCm39) |
F2431S |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,186,321 (GRCm39) |
H917L |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,004,292 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
A |
T |
14: 18,211,891 (GRCm38) |
M404K |
probably benign |
Het |
| Or4b1d |
T |
G |
2: 89,969,157 (GRCm39) |
I109L |
possibly damaging |
Het |
| Or8u8 |
T |
G |
2: 86,012,453 (GRCm39) |
M1L |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,713 (GRCm39) |
S1040P |
probably benign |
Het |
| Pctp |
T |
C |
11: 89,893,640 (GRCm39) |
D10G |
probably benign |
Het |
| Pja2 |
G |
T |
17: 64,616,613 (GRCm39) |
T94K |
probably benign |
Het |
| Plxna1 |
C |
T |
6: 89,298,032 (GRCm39) |
V1749M |
probably damaging |
Het |
| Prdm15 |
C |
T |
16: 97,638,800 (GRCm39) |
E87K |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,660,937 (GRCm39) |
F1028L |
probably benign |
Het |
| Sepsecs |
T |
C |
5: 52,818,021 (GRCm39) |
N252S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
| Slc22a22 |
G |
A |
15: 57,114,268 (GRCm39) |
S353F |
probably benign |
Het |
| Slc49a4 |
A |
G |
16: 35,518,379 (GRCm39) |
F445L |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,819,212 (GRCm39) |
K137N |
probably damaging |
Het |
| Snx13 |
G |
T |
12: 35,141,405 (GRCm39) |
V163L |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,914,182 (GRCm39) |
T1115S |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,740,928 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,815 (GRCm39) |
F229L |
probably benign |
Het |
| Tg |
T |
A |
15: 66,700,397 (GRCm39) |
N118K |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,541,916 (GRCm39) |
K153E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,466,821 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,675,061 (GRCm39) |
D1953G |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,864 (GRCm39) |
S137C |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,580,271 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
R4950:Ccdc73
|
UTSW |
2 |
104,822,711 (GRCm39) |
missense |
probably benign |
|
|
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'- TCTGGACACTCGAAGTAACAAAGCATC -3'
(R):5'- GACACTCACACTACTTTCTGAAGCTCC -3'
Sequencing Primer
(F):5'- GAAGTAACAAAGCATCCTCTAATGG -3'
(R):5'- GAAGCTCCCAGATGGTTCCTAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation