Incidental Mutation 'R4370:Cfap100'
| ID |
325952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap100
|
| Ensembl Gene |
ENSMUSG00000048794 |
| Gene Name |
cilia and flagella associated protein 100 |
| Synonyms |
Ccdc37, C230069K22Rik, C030041G11Rik |
| MMRRC Submission |
041674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
90380461-90405779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90390376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 242
(I242N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062750]
[ENSMUST00000153843]
[ENSMUST00000165673]
|
| AlphaFold |
Q80VN0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062750
AA Change: I88N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: I88N
| 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: I242N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: I242N
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
A |
2: 127,720,708 (GRCm39) |
D190E |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,793,196 (GRCm39) |
N809K |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bmal2 |
A |
T |
6: 146,711,149 (GRCm39) |
E51V |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,209,626 (GRCm39) |
S11F |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,653,299 (GRCm39) |
I289M |
probably damaging |
Het |
| Cdhr18 |
C |
T |
14: 13,862,375 (GRCm38) |
S393N |
probably benign |
Het |
| Dst |
GAA |
GA |
1: 34,290,809 (GRCm39) |
|
probably null |
Het |
| Epdr1 |
C |
A |
13: 19,803,576 (GRCm39) |
V53F |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,895,844 (GRCm39) |
M1574T |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krtap4-7 |
G |
A |
11: 99,534,543 (GRCm39) |
P107S |
unknown |
Het |
| Lrp6 |
A |
C |
6: 134,483,321 (GRCm39) |
Y461* |
probably null |
Het |
| Mecom |
T |
A |
3: 30,011,504 (GRCm39) |
E723V |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,138,524 (GRCm39) |
I258N |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,315 (GRCm39) |
V203A |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,956 (GRCm39) |
M39L |
probably benign |
Het |
| Or8k32 |
A |
T |
2: 86,368,764 (GRCm39) |
I165N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,771 (GRCm39) |
D730G |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,449,758 (GRCm39) |
R3935G |
probably damaging |
Het |
| Setd5 |
A |
G |
6: 113,098,766 (GRCm39) |
K800E |
probably damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,579,475 (GRCm39) |
Q596K |
probably benign |
Het |
| Slc38a4 |
T |
A |
15: 96,906,965 (GRCm39) |
N258Y |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,443,282 (GRCm39) |
S2051G |
probably null |
Het |
| Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
| Tgm2 |
G |
A |
2: 157,966,221 (GRCm39) |
R478* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,985,525 (GRCm39) |
Y443H |
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,648,870 (GRCm39) |
D113E |
probably benign |
Het |
| Trio |
C |
A |
15: 27,748,423 (GRCm39) |
E1266* |
probably null |
Het |
| Usp40 |
T |
C |
1: 87,925,597 (GRCm39) |
I211V |
probably benign |
Het |
| Zfp791 |
C |
T |
8: 85,840,235 (GRCm39) |
V11M |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTCAGCAAAGTCACTAAG -3'
(R):5'- CTGGAACCATGAACCCTAGC -3'
Sequencing Primer
(F):5'- GCAAAGTCACTAAGTGTCCGTTGC -3'
(R):5'- AGGCCCTGATCTCAACCTATGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation