Incidental Mutation 'R1022:Cfap100'
| ID |
98779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap100
|
| Ensembl Gene |
ENSMUSG00000048794 |
| Gene Name |
cilia and flagella associated protein 100 |
| Synonyms |
Ccdc37, C230069K22Rik, C030041G11Rik |
| MMRRC Submission |
039124-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R1022 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
90380461-90405779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90389986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 101
(T101S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062750]
[ENSMUST00000153843]
[ENSMUST00000165673]
|
| AlphaFold |
Q80VN0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062750
AA Change: T101S
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: T101S
| 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 benign
Transcript: ENSMUST00000165673
AA Change: T255S
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: T255S
| 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: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
| Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
| H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
| Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
| Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
| Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
| Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
| Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
| Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
| Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
| Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGGAGCCAGCCATGAAAG -3'
(R):5'- TGTAGCTCAGGTTGAGAGCAGTAGG -3'
Sequencing Primer
(F):5'- TGCAAGCTCTGCACCAG -3'
(R):5'- AGCAGTAGGAGTGACCCC -3'
|
| Posted On |
2014-01-09 |
Incidental Mutation