Incidental Mutation 'R8719:Ccdc150'
ID |
669989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc150
|
Ensembl Gene |
ENSMUSG00000025983 |
Gene Name |
coiled-coil domain containing 150 |
Synonyms |
4930511H11Rik |
MMRRC Submission |
068614-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R8719 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
54289842-54407886 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 54302668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 96
(P96Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027128]
[ENSMUST00000160472]
|
AlphaFold |
Q8CDI7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027128
AA Change: P96Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027128 Gene: ENSMUSG00000025983 AA Change: P96Q
Domain | Start | End | E-Value | Type |
coiled coil region
|
160 |
250 |
N/A |
INTRINSIC |
coiled coil region
|
288 |
314 |
N/A |
INTRINSIC |
coiled coil region
|
418 |
676 |
N/A |
INTRINSIC |
coiled coil region
|
727 |
952 |
N/A |
INTRINSIC |
coiled coil region
|
985 |
1048 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160472
AA Change: P96Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125195 Gene: ENSMUSG00000025983 AA Change: P96Q
Domain | Start | End | E-Value | Type |
coiled coil region
|
160 |
250 |
N/A |
INTRINSIC |
coiled coil region
|
288 |
314 |
N/A |
INTRINSIC |
coiled coil region
|
418 |
551 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
T |
C |
8: 46,966,700 (GRCm39) |
I224T |
probably benign |
Het |
Adamts20 |
C |
G |
15: 94,241,903 (GRCm39) |
A702P |
probably damaging |
Het |
Ahdc1 |
T |
A |
4: 132,791,533 (GRCm39) |
Y925N |
possibly damaging |
Het |
Anapc1 |
T |
C |
2: 128,483,369 (GRCm39) |
E1242G |
probably damaging |
Het |
Angptl2 |
A |
G |
2: 33,133,914 (GRCm39) |
N412S |
possibly damaging |
Het |
Aox3 |
T |
C |
1: 58,158,696 (GRCm39) |
V89A |
probably damaging |
Het |
Atxn1l |
A |
T |
8: 110,459,861 (GRCm39) |
S134T |
possibly damaging |
Het |
Brf1 |
C |
A |
12: 112,943,304 (GRCm39) |
|
probably benign |
Het |
Cab39l |
A |
T |
14: 59,734,314 (GRCm39) |
H11L |
probably benign |
Het |
Cabcoco1 |
A |
G |
10: 68,272,671 (GRCm39) |
|
probably benign |
Het |
Chek2 |
T |
C |
5: 111,014,908 (GRCm39) |
V459A |
probably damaging |
Het |
Cntnap2 |
A |
T |
6: 45,978,161 (GRCm39) |
D272V |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,160,516 (GRCm39) |
S572P |
possibly damaging |
Het |
Cysltr2 |
T |
C |
14: 73,267,111 (GRCm39) |
T200A |
possibly damaging |
Het |
Dglucy |
T |
C |
12: 100,804,821 (GRCm39) |
L104P |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,960,289 (GRCm39) |
M2222K |
probably damaging |
Het |
Dync2h1 |
C |
A |
9: 7,041,641 (GRCm39) |
V3334F |
probably benign |
Het |
Ear2 |
A |
T |
14: 44,340,734 (GRCm39) |
T131S |
possibly damaging |
Het |
Eef1akmt2 |
A |
T |
7: 132,452,340 (GRCm39) |
V92D |
probably damaging |
Het |
Fam83c |
T |
A |
2: 155,671,128 (GRCm39) |
Q769L |
probably benign |
Het |
Fanca |
A |
T |
8: 124,014,867 (GRCm39) |
C812S |
probably benign |
Het |
Gm21663 |
T |
G |
5: 26,146,162 (GRCm39) |
R50S |
probably damaging |
Het |
Gm5591 |
T |
G |
7: 38,221,614 (GRCm39) |
S152R |
probably benign |
Het |
Gm6370 |
T |
G |
5: 146,430,626 (GRCm39) |
D270E |
probably damaging |
Het |
H2-T22 |
T |
C |
17: 36,352,835 (GRCm39) |
I91V |
probably benign |
Het |
Hdac5 |
T |
C |
11: 102,097,963 (GRCm39) |
M61V |
probably benign |
Het |
Hsd17b6 |
A |
G |
10: 127,829,492 (GRCm39) |
S237P |
possibly damaging |
Het |
Khk |
T |
A |
5: 31,088,374 (GRCm39) |
F294I |
possibly damaging |
Het |
Klc1 |
G |
A |
12: 111,772,509 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
T |
C |
1: 193,006,099 (GRCm39) |
W143R |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,264 (GRCm39) |
I171T |
probably damaging |
Het |
Meis1 |
A |
G |
11: 18,835,587 (GRCm39) |
S344P |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,281,119 (GRCm39) |
R125S |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,586,325 (GRCm39) |
E105G |
probably benign |
Het |
Nudt22 |
T |
C |
19: 6,972,638 (GRCm39) |
D150G |
possibly damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,895 (GRCm39) |
T7A |
probably damaging |
Het |
Or5an1 |
A |
G |
19: 12,260,792 (GRCm39) |
I127V |
probably benign |
Het |
Or5b109 |
A |
G |
19: 13,211,836 (GRCm39) |
Y74C |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,763,778 (GRCm39) |
R799* |
probably null |
Het |
Pelp1 |
T |
C |
11: 70,292,789 (GRCm39) |
N175S |
probably damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pik3r4 |
C |
A |
9: 105,559,394 (GRCm39) |
S1162R |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,341,255 (GRCm39) |
N36I |
unknown |
Het |
Pomk |
T |
A |
8: 26,473,503 (GRCm39) |
Y150F |
possibly damaging |
Het |
Rdh11 |
T |
A |
12: 79,229,574 (GRCm39) |
H233L |
probably benign |
Het |
Rln1 |
A |
T |
19: 29,309,281 (GRCm39) |
M166K |
probably benign |
Het |
Rnf40 |
T |
A |
7: 127,191,834 (GRCm39) |
L356Q |
probably damaging |
Het |
Sin3b |
G |
T |
8: 73,450,139 (GRCm39) |
G19W |
unknown |
Het |
Slc6a15 |
A |
G |
10: 103,240,176 (GRCm39) |
R300G |
probably damaging |
Het |
Sncaip |
A |
T |
18: 53,027,910 (GRCm39) |
K433M |
probably damaging |
Het |
Tead2 |
A |
T |
7: 44,882,316 (GRCm39) |
|
probably benign |
Het |
Tespa1 |
A |
G |
10: 130,184,108 (GRCm39) |
D63G |
probably benign |
Het |
Tmem117 |
T |
C |
15: 94,992,248 (GRCm39) |
F303L |
probably damaging |
Het |
Tmem270 |
T |
G |
5: 134,930,650 (GRCm39) |
T204P |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,722,790 (GRCm39) |
V1320A |
probably damaging |
Het |
Ttc7b |
A |
G |
12: 100,267,812 (GRCm39) |
L843P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,543,041 (GRCm39) |
Y33315C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,607,146 (GRCm39) |
V17959A |
possibly damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,521,095 (GRCm39) |
V291A |
probably damaging |
Het |
Ywhag |
T |
A |
5: 135,939,998 (GRCm39) |
T199S |
probably benign |
Het |
Zfp810 |
T |
C |
9: 22,190,571 (GRCm39) |
T77A |
probably benign |
Het |
|
Other mutations in Ccdc150 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00712:Ccdc150
|
APN |
1 |
54,311,709 (GRCm39) |
splice site |
probably benign |
|
IGL00819:Ccdc150
|
APN |
1 |
54,302,732 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01973:Ccdc150
|
APN |
1 |
54,339,647 (GRCm39) |
splice site |
probably null |
|
IGL02352:Ccdc150
|
APN |
1 |
54,311,680 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02359:Ccdc150
|
APN |
1 |
54,311,680 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02620:Ccdc150
|
APN |
1 |
54,302,704 (GRCm39) |
nonsense |
probably null |
|
IGL02673:Ccdc150
|
APN |
1 |
54,368,149 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03148:Ccdc150
|
APN |
1 |
54,317,874 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03185:Ccdc150
|
APN |
1 |
54,339,482 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03014:Ccdc150
|
UTSW |
1 |
54,329,861 (GRCm39) |
missense |
probably damaging |
0.99 |
R0066:Ccdc150
|
UTSW |
1 |
54,395,850 (GRCm39) |
missense |
probably benign |
|
R0066:Ccdc150
|
UTSW |
1 |
54,395,850 (GRCm39) |
missense |
probably benign |
|
R0217:Ccdc150
|
UTSW |
1 |
54,339,589 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0582:Ccdc150
|
UTSW |
1 |
54,368,670 (GRCm39) |
missense |
probably benign |
|
R0687:Ccdc150
|
UTSW |
1 |
54,324,790 (GRCm39) |
splice site |
probably null |
|
R0790:Ccdc150
|
UTSW |
1 |
54,316,935 (GRCm39) |
splice site |
probably benign |
|
R1146:Ccdc150
|
UTSW |
1 |
54,404,130 (GRCm39) |
splice site |
probably benign |
|
R1288:Ccdc150
|
UTSW |
1 |
54,403,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R1763:Ccdc150
|
UTSW |
1 |
54,393,795 (GRCm39) |
missense |
probably benign |
0.42 |
R1855:Ccdc150
|
UTSW |
1 |
54,407,069 (GRCm39) |
intron |
probably benign |
|
R1957:Ccdc150
|
UTSW |
1 |
54,303,068 (GRCm39) |
missense |
probably benign |
0.00 |
R2180:Ccdc150
|
UTSW |
1 |
54,311,706 (GRCm39) |
critical splice donor site |
probably null |
|
R2226:Ccdc150
|
UTSW |
1 |
54,404,084 (GRCm39) |
missense |
probably null |
0.11 |
R3054:Ccdc150
|
UTSW |
1 |
54,328,001 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3055:Ccdc150
|
UTSW |
1 |
54,328,001 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3056:Ccdc150
|
UTSW |
1 |
54,328,001 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3409:Ccdc150
|
UTSW |
1 |
54,395,932 (GRCm39) |
missense |
probably benign |
0.02 |
R3411:Ccdc150
|
UTSW |
1 |
54,395,932 (GRCm39) |
missense |
probably benign |
0.02 |
R3812:Ccdc150
|
UTSW |
1 |
54,407,469 (GRCm39) |
missense |
probably benign |
0.00 |
R4031:Ccdc150
|
UTSW |
1 |
54,317,970 (GRCm39) |
missense |
probably benign |
0.31 |
R4356:Ccdc150
|
UTSW |
1 |
54,392,213 (GRCm39) |
missense |
probably damaging |
0.98 |
R4617:Ccdc150
|
UTSW |
1 |
54,394,913 (GRCm39) |
missense |
probably benign |
0.00 |
R4757:Ccdc150
|
UTSW |
1 |
54,317,874 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4957:Ccdc150
|
UTSW |
1 |
54,404,027 (GRCm39) |
intron |
probably benign |
|
R5028:Ccdc150
|
UTSW |
1 |
54,302,636 (GRCm39) |
missense |
probably benign |
0.01 |
R5512:Ccdc150
|
UTSW |
1 |
54,393,806 (GRCm39) |
missense |
probably damaging |
0.96 |
R5757:Ccdc150
|
UTSW |
1 |
54,302,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R5943:Ccdc150
|
UTSW |
1 |
54,339,526 (GRCm39) |
missense |
probably benign |
0.01 |
R5948:Ccdc150
|
UTSW |
1 |
54,316,873 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6033:Ccdc150
|
UTSW |
1 |
54,324,787 (GRCm39) |
critical splice donor site |
probably null |
|
R6033:Ccdc150
|
UTSW |
1 |
54,324,787 (GRCm39) |
critical splice donor site |
probably null |
|
R6065:Ccdc150
|
UTSW |
1 |
54,302,758 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6390:Ccdc150
|
UTSW |
1 |
54,407,176 (GRCm39) |
missense |
probably benign |
0.01 |
R6399:Ccdc150
|
UTSW |
1 |
54,303,116 (GRCm39) |
splice site |
probably null |
|
R6988:Ccdc150
|
UTSW |
1 |
54,394,868 (GRCm39) |
nonsense |
probably null |
|
R7248:Ccdc150
|
UTSW |
1 |
54,344,057 (GRCm39) |
missense |
probably benign |
0.00 |
R7319:Ccdc150
|
UTSW |
1 |
54,302,496 (GRCm39) |
splice site |
probably null |
|
R7322:Ccdc150
|
UTSW |
1 |
54,299,125 (GRCm39) |
missense |
probably benign |
0.01 |
R7366:Ccdc150
|
UTSW |
1 |
54,339,541 (GRCm39) |
nonsense |
probably null |
|
R7647:Ccdc150
|
UTSW |
1 |
54,395,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R7981:Ccdc150
|
UTSW |
1 |
54,407,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R8002:Ccdc150
|
UTSW |
1 |
54,311,656 (GRCm39) |
missense |
probably damaging |
0.99 |
R8201:Ccdc150
|
UTSW |
1 |
54,368,646 (GRCm39) |
missense |
probably benign |
0.10 |
R8688:Ccdc150
|
UTSW |
1 |
54,407,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Ccdc150
|
UTSW |
1 |
54,311,641 (GRCm39) |
missense |
probably benign |
0.14 |
R9178:Ccdc150
|
UTSW |
1 |
54,311,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R9200:Ccdc150
|
UTSW |
1 |
54,299,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Ccdc150
|
UTSW |
1 |
54,316,910 (GRCm39) |
missense |
probably damaging |
0.99 |
R9367:Ccdc150
|
UTSW |
1 |
54,324,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R9416:Ccdc150
|
UTSW |
1 |
54,317,990 (GRCm39) |
missense |
probably damaging |
0.97 |
R9430:Ccdc150
|
UTSW |
1 |
54,320,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R9576:Ccdc150
|
UTSW |
1 |
54,407,544 (GRCm39) |
nonsense |
probably null |
|
R9747:Ccdc150
|
UTSW |
1 |
54,299,107 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCAATGTTGTTGCTGTCAC -3'
(R):5'- ATGAAGCACAGATTCACGGGC -3'
Sequencing Primer
(F):5'- GCTGTCACTTGCTATTCTAATTGG -3'
(R):5'- GATTCACGGGCCCACCAAG -3'
|
Posted On |
2021-04-30 |