Incidental Mutation 'R7983:Cfap100'
ID |
651313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap100
|
Ensembl Gene |
ENSMUSG00000048794 |
Gene Name |
cilia and flagella associated protein 100 |
Synonyms |
Ccdc37, C230069K22Rik, C030041G11Rik |
MMRRC Submission |
046024-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R7983 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
90380461-90405779 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 90392687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 141
(T141I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062750]
[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: ENSMUST00000153843
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000126515 Gene: ENSMUSG00000048794 AA Change: T141I
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
95% (39/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Casd1 |
G |
T |
6: 4,624,472 (GRCm39) |
E422* |
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,607,559 (GRCm39) |
T1007A |
possibly damaging |
Het |
Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
Cds2 |
T |
G |
2: 132,105,430 (GRCm39) |
|
probably null |
Het |
Chd7 |
T |
A |
4: 8,752,628 (GRCm39) |
M375K |
unknown |
Het |
Chd7 |
T |
A |
4: 8,844,609 (GRCm39) |
S1573T |
possibly damaging |
Het |
Cplane1 |
T |
A |
15: 8,251,299 (GRCm39) |
V1857E |
probably benign |
Het |
Crybb2 |
T |
C |
5: 113,209,946 (GRCm39) |
E139G |
probably benign |
Het |
Csn2 |
T |
C |
5: 87,842,356 (GRCm39) |
T224A |
probably benign |
Het |
Csnk2b |
T |
C |
17: 35,335,304 (GRCm39) |
H231R |
possibly damaging |
Het |
Cthrc1 |
A |
G |
15: 38,940,550 (GRCm39) |
D51G |
probably benign |
Het |
Cyp2a5 |
A |
T |
7: 26,539,866 (GRCm39) |
T305S |
probably benign |
Het |
Cyp4a29 |
A |
T |
4: 115,108,099 (GRCm39) |
D307V |
probably damaging |
Het |
Dhrs7b |
T |
C |
11: 60,743,287 (GRCm39) |
V188A |
possibly damaging |
Het |
Dna2 |
A |
G |
10: 62,791,173 (GRCm39) |
D224G |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,282,584 (GRCm39) |
L2906M |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,878,904 (GRCm39) |
E545D |
probably benign |
Het |
Foxq1 |
T |
C |
13: 31,743,972 (GRCm39) |
F358S |
possibly damaging |
Het |
Galnt16 |
C |
T |
12: 80,648,598 (GRCm39) |
H557Y |
probably benign |
Het |
Kcnb2 |
T |
C |
1: 15,383,004 (GRCm39) |
M110T |
probably damaging |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,830,409 (GRCm39) |
I144V |
probably benign |
Het |
Napsa |
T |
A |
7: 44,234,751 (GRCm39) |
N295K |
possibly damaging |
Het |
Nup50l |
C |
A |
6: 96,142,888 (GRCm39) |
G52V |
probably damaging |
Het |
Or2ag20 |
T |
C |
7: 106,464,958 (GRCm39) |
V257A |
probably benign |
Het |
Or5k1b |
G |
A |
16: 58,581,377 (GRCm39) |
S54F |
probably benign |
Het |
Plch1 |
T |
C |
3: 63,615,164 (GRCm39) |
D778G |
probably damaging |
Het |
Pnlip |
G |
A |
19: 58,668,491 (GRCm39) |
V361I |
probably benign |
Het |
Pou4f2 |
G |
T |
8: 79,161,568 (GRCm39) |
A345E |
probably benign |
Het |
Prr11 |
C |
T |
11: 86,982,637 (GRCm39) |
D365N |
possibly damaging |
Het |
Ptprq |
G |
T |
10: 107,444,272 (GRCm39) |
S1444* |
probably null |
Het |
R3hdm4 |
A |
T |
10: 79,748,557 (GRCm39) |
V129E |
probably damaging |
Het |
Retnlg |
T |
C |
16: 48,693,261 (GRCm39) |
S13P |
probably damaging |
Het |
Rgmb |
T |
C |
17: 16,041,189 (GRCm39) |
T133A |
possibly damaging |
Het |
Rin3 |
A |
C |
12: 102,335,418 (GRCm39) |
H443P |
probably benign |
Het |
Rnf152 |
T |
C |
1: 105,212,089 (GRCm39) |
D156G |
probably benign |
Het |
Sfmbt1 |
A |
G |
14: 30,519,673 (GRCm39) |
|
probably null |
Het |
Slc25a46 |
G |
A |
18: 31,716,483 (GRCm39) |
R340C |
probably damaging |
Het |
Sp4 |
A |
T |
12: 118,264,967 (GRCm39) |
M1K |
probably null |
Het |
Ss18l2 |
T |
C |
9: 121,541,675 (GRCm39) |
I64T |
probably damaging |
Het |
Sult2a4 |
G |
A |
7: 13,649,152 (GRCm39) |
S219F |
probably damaging |
Het |
Tnip3 |
A |
C |
6: 65,515,630 (GRCm39) |
D25A |
probably damaging |
Het |
Trac |
A |
G |
14: 54,458,214 (GRCm39) |
T79A |
|
Het |
Vmn2r36 |
A |
G |
7: 7,905,415 (GRCm39) |
L16P |
probably damaging |
Het |
Zswim2 |
A |
G |
2: 83,753,911 (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 |
|
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 |
|
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'- AAGCCTCTATGAGCTGAGCC -3'
(R):5'- GTCCCACTGACTGCACATCATC -3'
Sequencing Primer
(F):5'- TGAGCCAGCCTCTACCC -3'
(R):5'- TCCCCAAAGGAGCGTGAAC -3'
|
Posted On |
2020-09-15 |