Incidental Mutation 'IGL01910:Cfap100'
| ID |
179789 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap100
|
| Ensembl Gene |
ENSMUSG00000048794 |
| Gene Name |
cilia and flagella associated protein 100 |
| Synonyms |
Ccdc37, C230069K22Rik, C030041G11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01910
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
90380461-90405779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90386606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 373
(D373G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062750]
[ENSMUST00000153843]
[ENSMUST00000165673]
|
| AlphaFold |
Q80VN0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062750
AA Change: D219G
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: D219G
| 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: ENSMUST00000153843
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165673
AA Change: D373G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: D373G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ammecr1l |
A |
G |
18: 31,904,995 (GRCm39) |
M79V |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,563,644 (GRCm39) |
V205E |
probably benign |
Het |
| BC061237 |
T |
C |
14: 44,743,445 (GRCm39) |
|
probably benign |
Het |
| Calr |
T |
A |
8: 85,571,598 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,096 (GRCm39) |
N1942S |
probably benign |
Het |
| Chst9 |
C |
A |
18: 15,585,931 (GRCm39) |
A211S |
possibly damaging |
Het |
| Ephb1 |
T |
C |
9: 101,879,056 (GRCm39) |
E478G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,511,602 (GRCm39) |
V387D |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,643 (GRCm39) |
I161V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hmx2 |
C |
T |
7: 131,157,401 (GRCm39) |
R172C |
probably damaging |
Het |
| Itgam |
C |
T |
7: 127,682,948 (GRCm39) |
A320V |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 142,138,485 (GRCm39) |
N361K |
probably benign |
Het |
| Mbl1 |
T |
C |
14: 40,875,703 (GRCm39) |
|
probably null |
Het |
| Nudt9 |
G |
A |
5: 104,202,175 (GRCm39) |
G79R |
probably damaging |
Het |
| Ppan |
C |
T |
9: 20,802,232 (GRCm39) |
R208C |
probably damaging |
Het |
| Rpl23a-ps1 |
A |
G |
1: 46,020,940 (GRCm39) |
|
noncoding transcript |
Het |
| Slc17a1 |
A |
G |
13: 24,062,440 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,569 (GRCm39) |
T1269A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,951 (GRCm39) |
N275Y |
probably damaging |
Het |
| Wdr93 |
T |
C |
7: 79,421,321 (GRCm39) |
S405P |
probably damaging |
Het |
| Xcl1 |
T |
A |
1: 164,759,458 (GRCm39) |
I81F |
probably damaging |
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 |
|
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 |
|
|
R5983:Cfap100
|
UTSW |
6 |
90,396,373 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation