Incidental Mutation 'R1251:Ccdc146'
| ID |
151749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc146
|
| Ensembl Gene |
ENSMUSG00000064280 |
| Gene Name |
coiled-coil domain containing 146 |
| Synonyms |
4930528G09Rik |
| MMRRC Submission |
039318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21292961-21424677 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21293372 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 952
(M952V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000115245]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198930]
[ENSMUST00000198937]
|
| AlphaFold |
E9Q9F7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036031
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
386 |
398 |
N/A |
INTRINSIC |
|
Pfam:GSAP-16
|
646 |
753 |
6.8e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115245
AA Change: M952V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: M952V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
438 |
477 |
N/A |
INTRINSIC |
|
coiled coil region
|
549 |
595 |
N/A |
INTRINSIC |
|
coiled coil region
|
617 |
663 |
N/A |
INTRINSIC |
|
coiled coil region
|
690 |
720 |
N/A |
INTRINSIC |
|
coiled coil region
|
770 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198937
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
355 |
367 |
N/A |
INTRINSIC |
|
Pfam:GSAP-16
|
608 |
722 |
1.6e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199553
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 123,962,052 (GRCm38) |
G495D |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 31,108,171 (GRCm38) |
Y509N |
probably damaging |
Het |
| Adcy9 |
T |
A |
16: 4,311,531 (GRCm38) |
E497V |
probably damaging |
Het |
| Bcat2 |
T |
G |
7: 45,575,986 (GRCm38) |
L56R |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,826,480 (GRCm38) |
K446R |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,601,265 (GRCm38) |
V2607I |
probably benign |
Het |
| Clec18a |
T |
C |
8: 111,081,638 (GRCm38) |
I54V |
possibly damaging |
Het |
| Coil |
A |
G |
11: 88,982,299 (GRCm38) |
E455G |
possibly damaging |
Het |
| Copg1 |
A |
T |
6: 87,890,007 (GRCm38) |
K75* |
probably null |
Het |
| Cyp2j12 |
G |
A |
4: 96,115,666 (GRCm38) |
Q238* |
probably null |
Het |
| D17Wsu92e |
C |
T |
17: 27,786,070 (GRCm38) |
|
probably null |
Het |
| Eif3i |
T |
C |
4: 129,593,385 (GRCm38) |
E229G |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 30,886,276 (GRCm38) |
N411Y |
probably benign |
Het |
| Eya2 |
T |
A |
2: 165,754,484 (GRCm38) |
M305K |
probably damaging |
Het |
| Faim |
C |
T |
9: 98,992,634 (GRCm38) |
T78M |
probably damaging |
Het |
| Fgg |
T |
A |
3: 83,012,980 (GRCm38) |
D355E |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,358,785 (GRCm38) |
L638P |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,386,015 (GRCm38) |
E664D |
possibly damaging |
Het |
| Il1rn |
A |
G |
2: 24,345,570 (GRCm38) |
R21G |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 81,890,753 (GRCm38) |
G220R |
probably benign |
Het |
| Irx6 |
A |
G |
8: 92,678,253 (GRCm38) |
S250G |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,634,483 (GRCm38) |
I246T |
probably benign |
Het |
| Mcm3 |
G |
A |
1: 20,812,672 (GRCm38) |
Q353* |
probably null |
Het |
| Mfhas1 |
A |
G |
8: 35,591,053 (GRCm38) |
Y894C |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,372,053 (GRCm38) |
L348P |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,111,192 (GRCm38) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,463,842 (GRCm38) |
S160T |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,760,884 (GRCm38) |
S67P |
probably damaging |
Het |
| Olfr1036 |
G |
A |
2: 86,074,820 (GRCm38) |
V27M |
probably benign |
Het |
| Olfr513 |
T |
G |
7: 108,754,907 (GRCm38) |
F17C |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,677,182 (GRCm38) |
F1108L |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,359,199 (GRCm38) |
S601N |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,535,051 (GRCm38) |
V842I |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,543,234 (GRCm38) |
|
probably null |
Het |
| Setd1a |
T |
A |
7: 127,797,424 (GRCm38) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 57,999,962 (GRCm38) |
|
probably null |
Het |
| Sult2a8 |
T |
A |
7: 14,425,425 (GRCm38) |
K90* |
probably null |
Het |
| Tlr2 |
T |
C |
3: 83,838,269 (GRCm38) |
D169G |
possibly damaging |
Het |
| Tmem95 |
A |
G |
11: 69,876,829 (GRCm38) |
F153S |
probably benign |
Het |
| Tube1 |
G |
T |
10: 39,134,208 (GRCm38) |
G10* |
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 108,996,024 (GRCm38) |
M687V |
probably benign |
Het |
| Zc3h8 |
G |
A |
2: 128,935,369 (GRCm38) |
P117S |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,705,089 (GRCm38) |
D18E |
probably damaging |
Het |
|
| Other mutations in Ccdc146 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Ccdc146
|
APN |
5 |
21,301,422 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01066:Ccdc146
|
APN |
5 |
21,319,542 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01399:Ccdc146
|
APN |
5 |
21,294,613 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL01866:Ccdc146
|
APN |
5 |
21,333,054 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01868:Ccdc146
|
APN |
5 |
21,333,054 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01869:Ccdc146
|
APN |
5 |
21,316,839 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02213:Ccdc146
|
APN |
5 |
21,316,904 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02338:Ccdc146
|
APN |
5 |
21,319,606 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02553:Ccdc146
|
APN |
5 |
21,297,633 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02838:Ccdc146
|
APN |
5 |
21,297,569 (GRCm38) |
missense |
probably benign |
0.01 |
|
Starcraft
|
UTSW |
5 |
21,399,614 (GRCm38) |
splice site |
probably null |
|
|
R0051:Ccdc146
|
UTSW |
5 |
21,316,904 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0051:Ccdc146
|
UTSW |
5 |
21,316,904 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0055:Ccdc146
|
UTSW |
5 |
21,297,006 (GRCm38) |
splice site |
probably null |
|
|
R0115:Ccdc146
|
UTSW |
5 |
21,322,756 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0373:Ccdc146
|
UTSW |
5 |
21,319,545 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1355:Ccdc146
|
UTSW |
5 |
21,321,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1405:Ccdc146
|
UTSW |
5 |
21,399,732 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1405:Ccdc146
|
UTSW |
5 |
21,399,732 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1470:Ccdc146
|
UTSW |
5 |
21,319,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1470:Ccdc146
|
UTSW |
5 |
21,319,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1556:Ccdc146
|
UTSW |
5 |
21,330,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1613:Ccdc146
|
UTSW |
5 |
21,294,524 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1872:Ccdc146
|
UTSW |
5 |
21,301,290 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2271:Ccdc146
|
UTSW |
5 |
21,399,721 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2329:Ccdc146
|
UTSW |
5 |
21,308,612 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2518:Ccdc146
|
UTSW |
5 |
21,305,528 (GRCm38) |
missense |
probably benign |
|
|
R2680:Ccdc146
|
UTSW |
5 |
21,305,269 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R3116:Ccdc146
|
UTSW |
5 |
21,316,955 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3121:Ccdc146
|
UTSW |
5 |
21,294,593 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R3122:Ccdc146
|
UTSW |
5 |
21,294,593 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R3159:Ccdc146
|
UTSW |
5 |
21,399,792 (GRCm38) |
missense |
unknown |
|
|
R3436:Ccdc146
|
UTSW |
5 |
21,297,005 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4043:Ccdc146
|
UTSW |
5 |
21,316,943 (GRCm38) |
missense |
probably benign |
0.14 |
|
R4226:Ccdc146
|
UTSW |
5 |
21,322,758 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4493:Ccdc146
|
UTSW |
5 |
21,303,193 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5013:Ccdc146
|
UTSW |
5 |
21,333,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5024:Ccdc146
|
UTSW |
5 |
21,399,614 (GRCm38) |
splice site |
probably null |
|
|
R5051:Ccdc146
|
UTSW |
5 |
21,303,083 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5384:Ccdc146
|
UTSW |
5 |
21,308,713 (GRCm38) |
missense |
probably benign |
0.37 |
|
R5532:Ccdc146
|
UTSW |
5 |
21,305,331 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5906:Ccdc146
|
UTSW |
5 |
21,301,352 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5927:Ccdc146
|
UTSW |
5 |
21,308,621 (GRCm38) |
nonsense |
probably null |
|
|
R5951:Ccdc146
|
UTSW |
5 |
21,319,579 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5978:Ccdc146
|
UTSW |
5 |
21,316,968 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5990:Ccdc146
|
UTSW |
5 |
21,318,182 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6123:Ccdc146
|
UTSW |
5 |
21,305,597 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6217:Ccdc146
|
UTSW |
5 |
21,317,902 (GRCm38) |
splice site |
probably null |
|
|
R6276:Ccdc146
|
UTSW |
5 |
21,301,340 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6665:Ccdc146
|
UTSW |
5 |
21,303,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7077:Ccdc146
|
UTSW |
5 |
21,305,274 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7204:Ccdc146
|
UTSW |
5 |
21,308,626 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7336:Ccdc146
|
UTSW |
5 |
21,303,112 (GRCm38) |
missense |
probably benign |
0.41 |
|
R7608:Ccdc146
|
UTSW |
5 |
21,301,452 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8310:Ccdc146
|
UTSW |
5 |
21,301,471 (GRCm38) |
intron |
probably benign |
|
|
R8427:Ccdc146
|
UTSW |
5 |
21,399,792 (GRCm38) |
missense |
unknown |
|
|
R8927:Ccdc146
|
UTSW |
5 |
21,333,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8928:Ccdc146
|
UTSW |
5 |
21,333,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8957:Ccdc146
|
UTSW |
5 |
21,309,587 (GRCm38) |
intron |
probably benign |
|
|
R9003:Ccdc146
|
UTSW |
5 |
21,303,134 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R9252:Ccdc146
|
UTSW |
5 |
21,297,025 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9425:Ccdc146
|
UTSW |
5 |
21,303,137 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9612:Ccdc146
|
UTSW |
5 |
21,330,579 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9774:Ccdc146
|
UTSW |
5 |
21,301,249 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCATTGTTGTTGACCGTGCC -3'
(R):5'- TTTGCTCGCACCACAACTGACC -3'
Sequencing Primer
(F):5'- TGCCTGGCTCATCAGCAG -3'
(R):5'- AAGATGCTCTTTTAGGACCCAGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation