Incidental Mutation 'R5983:Cfap100'
ID |
481519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap100
|
Ensembl Gene |
ENSMUSG00000048794 |
Gene Name |
cilia and flagella associated protein 100 |
Synonyms |
Ccdc37, C230069K22Rik, C030041G11Rik |
MMRRC Submission |
044164-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R5983 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
90380461-90405779 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to C
at 90396373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062750]
[ENSMUST00000127508]
[ENSMUST00000134224]
[ENSMUST00000153843]
[ENSMUST00000165673]
|
AlphaFold |
Q80VN0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062750
|
SMART Domains |
Protein: ENSMUSP00000059976 Gene: ENSMUSG00000048794
Domain | Start | End | E-Value | Type |
Pfam:DUF4200
|
1 |
127 |
5.4e-26 |
PFAM |
coiled coil region
|
242 |
282 |
N/A |
INTRINSIC |
low complexity region
|
289 |
309 |
N/A |
INTRINSIC |
coiled coil region
|
374 |
427 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127508
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134224
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153843
|
Predicted Effect |
unknown
Transcript: ENSMUST00000165673
AA Change: S40A
|
SMART Domains |
Protein: ENSMUSP00000126515 Gene: ENSMUSG00000048794 AA Change: S40A
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
Pfam:DUF4200
|
154 |
272 |
1.2e-35 |
PFAM |
coiled coil region
|
396 |
436 |
N/A |
INTRINSIC |
low complexity region
|
443 |
463 |
N/A |
INTRINSIC |
coiled coil region
|
528 |
581 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
100% (29/29) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
A |
19: 43,807,942 (GRCm39) |
M861K |
probably benign |
Het |
Abhd18 |
T |
A |
3: 40,864,979 (GRCm39) |
F73L |
probably damaging |
Het |
Abraxas1 |
A |
G |
5: 100,955,777 (GRCm39) |
V237A |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,974,378 (GRCm39) |
Y208C |
probably damaging |
Het |
Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
Bach2 |
A |
T |
4: 32,563,324 (GRCm39) |
E597V |
probably damaging |
Het |
Ccdc170 |
A |
T |
10: 4,470,851 (GRCm39) |
R232* |
probably null |
Het |
Dppa2 |
G |
A |
16: 48,136,204 (GRCm39) |
M185I |
probably benign |
Het |
Ecsit |
C |
T |
9: 21,989,443 (GRCm39) |
|
probably null |
Het |
Fbxw26 |
A |
G |
9: 109,547,033 (GRCm39) |
I464T |
possibly damaging |
Het |
Grm8 |
T |
C |
6: 27,760,220 (GRCm39) |
K370R |
probably benign |
Het |
Ide |
C |
T |
19: 37,249,549 (GRCm39) |
|
probably null |
Het |
Katnip |
T |
A |
7: 125,449,545 (GRCm39) |
W870R |
probably damaging |
Het |
Morn3 |
T |
C |
5: 123,175,851 (GRCm39) |
D179G |
possibly damaging |
Het |
Nkapd1 |
A |
G |
9: 50,519,142 (GRCm39) |
S157P |
probably damaging |
Het |
Nvl |
A |
T |
1: 180,964,471 (GRCm39) |
D102E |
probably benign |
Het |
Or5an10 |
T |
A |
19: 12,276,467 (GRCm39) |
I10F |
probably benign |
Het |
Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
Rsph9 |
A |
G |
17: 46,440,406 (GRCm39) |
M230T |
probably benign |
Het |
Sacs |
G |
A |
14: 61,442,648 (GRCm39) |
V1565M |
probably damaging |
Het |
Serpina3n |
T |
C |
12: 104,375,288 (GRCm39) |
L120P |
probably damaging |
Het |
Spsb2 |
A |
C |
6: 124,786,711 (GRCm39) |
E148A |
probably benign |
Het |
Tmc2 |
T |
A |
2: 130,089,896 (GRCm39) |
M627K |
probably damaging |
Het |
Tmem147 |
T |
C |
7: 30,427,484 (GRCm39) |
D111G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,572,725 (GRCm39) |
V17729A |
possibly damaging |
Het |
Vmn2r104 |
G |
A |
17: 20,261,970 (GRCm39) |
P387S |
probably damaging |
Het |
Zfp940 |
C |
T |
7: 29,544,477 (GRCm39) |
V477M |
possibly damaging |
Het |
Zw10 |
A |
G |
9: 48,988,745 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cfap100 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00965:Cfap100
|
APN |
6 |
90,392,787 (GRCm39) |
missense |
probably benign |
0.36 |
IGL01067:Cfap100
|
APN |
6 |
90,383,096 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01347:Cfap100
|
APN |
6 |
90,383,103 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01803:Cfap100
|
APN |
6 |
90,392,717 (GRCm39) |
missense |
probably benign |
0.29 |
IGL01910:Cfap100
|
APN |
6 |
90,386,606 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02086:Cfap100
|
APN |
6 |
90,390,954 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02680:Cfap100
|
APN |
6 |
90,389,217 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03046:Cfap100
|
APN |
6 |
90,389,332 (GRCm39) |
splice site |
probably null |
|
R0391:Cfap100
|
UTSW |
6 |
90,382,321 (GRCm39) |
splice site |
probably benign |
|
R0883:Cfap100
|
UTSW |
6 |
90,392,888 (GRCm39) |
splice site |
probably benign |
|
R1022:Cfap100
|
UTSW |
6 |
90,389,986 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1024:Cfap100
|
UTSW |
6 |
90,389,986 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1086:Cfap100
|
UTSW |
6 |
90,380,890 (GRCm39) |
nonsense |
probably null |
|
R1440:Cfap100
|
UTSW |
6 |
90,389,166 (GRCm39) |
missense |
probably benign |
0.06 |
R1914:Cfap100
|
UTSW |
6 |
90,389,329 (GRCm39) |
splice site |
probably benign |
|
R1915:Cfap100
|
UTSW |
6 |
90,389,329 (GRCm39) |
splice site |
probably benign |
|
R2257:Cfap100
|
UTSW |
6 |
90,390,802 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4370:Cfap100
|
UTSW |
6 |
90,390,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Cfap100
|
UTSW |
6 |
90,389,825 (GRCm39) |
critical splice donor site |
probably null |
|
R4895:Cfap100
|
UTSW |
6 |
90,383,084 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5160:Cfap100
|
UTSW |
6 |
90,390,692 (GRCm39) |
critical splice donor site |
probably null |
|
R6164:Cfap100
|
UTSW |
6 |
90,392,768 (GRCm39) |
missense |
probably benign |
0.15 |
R6394:Cfap100
|
UTSW |
6 |
90,394,605 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6658:Cfap100
|
UTSW |
6 |
90,390,400 (GRCm39) |
missense |
probably damaging |
0.99 |
R7094:Cfap100
|
UTSW |
6 |
90,390,436 (GRCm39) |
missense |
|
|
R7254:Cfap100
|
UTSW |
6 |
90,383,043 (GRCm39) |
missense |
unknown |
|
R7922:Cfap100
|
UTSW |
6 |
90,380,962 (GRCm39) |
missense |
unknown |
|
R7983:Cfap100
|
UTSW |
6 |
90,392,687 (GRCm39) |
missense |
|
|
R8169:Cfap100
|
UTSW |
6 |
90,394,656 (GRCm39) |
missense |
|
|
R8490:Cfap100
|
UTSW |
6 |
90,390,721 (GRCm39) |
utr 3 prime |
probably benign |
|
R8835:Cfap100
|
UTSW |
6 |
90,386,597 (GRCm39) |
missense |
|
|
R9080:Cfap100
|
UTSW |
6 |
90,383,183 (GRCm39) |
missense |
unknown |
|
R9124:Cfap100
|
UTSW |
6 |
90,386,330 (GRCm39) |
missense |
|
|
R9185:Cfap100
|
UTSW |
6 |
90,390,416 (GRCm39) |
missense |
|
|
R9663:Cfap100
|
UTSW |
6 |
90,386,328 (GRCm39) |
missense |
|
|
Z1176:Cfap100
|
UTSW |
6 |
90,383,132 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGACGCCTTCTTGAAGTTTTG -3'
(R):5'- TCGAGGTTGCTAAACTGGTGC -3'
Sequencing Primer
(F):5'- CTTGAAGTTTTGGGGCTCAGC -3'
(R):5'- TAAACTGGTGCCCCCTGAGTC -3'
|
Posted On |
2017-06-26 |