Incidental Mutation 'R6739:Cfap73'
| ID |
530349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap73
|
| Ensembl Gene |
ENSMUSG00000094282 |
| Gene Name |
cilia and flagella associated protein 73 |
| Synonyms |
Gm5988, Ccdc42b |
| MMRRC Submission |
044857-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R6739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120766400-120772300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120768258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 167
(T167A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031598]
[ENSMUST00000177908]
|
| AlphaFold |
J3QPZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031598
|
| SMART Domains |
Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
59 |
101 |
9e-19 |
BLAST |
|
DEXDc
|
114 |
313 |
3.5e-58 |
SMART |
|
HELICc
|
347 |
432 |
7.86e-20 |
SMART |
|
low complexity region
|
628 |
646 |
N/A |
INTRINSIC |
|
DBP10CT
|
706 |
766 |
1.45e-25 |
SMART |
|
low complexity region
|
778 |
801 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177908
AA Change: T167A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000137554
Gene: ENSMUSG00000094282
AA Change: T167A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4200
|
35 |
151 |
2.1e-25 |
PFAM |
|
coiled coil region
|
185 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202672
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,236,658 (GRCm39) |
V14A |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,873,643 (GRCm39) |
N59K |
probably damaging |
Het |
| Ano4 |
T |
C |
10: 88,863,114 (GRCm39) |
Y286C |
probably damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,885,543 (GRCm39) |
H545Y |
possibly damaging |
Het |
| Arid1a |
T |
A |
4: 133,414,937 (GRCm39) |
S1152C |
unknown |
Het |
| Ctbs |
A |
T |
3: 146,165,254 (GRCm39) |
|
probably null |
Het |
| Dmgdh |
T |
A |
13: 93,857,123 (GRCm39) |
N742K |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,011,313 (GRCm39) |
S1157P |
probably benign |
Het |
| Dnm3 |
T |
C |
1: 162,305,352 (GRCm39) |
N14S |
probably damaging |
Het |
| Dpp4 |
C |
T |
2: 62,217,439 (GRCm39) |
V53I |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,246 (GRCm39) |
N329S |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,480,699 (GRCm39) |
V327A |
probably benign |
Het |
| Gsg1 |
T |
A |
6: 135,214,612 (GRCm39) |
Q299L |
probably damaging |
Het |
| Igsf23 |
A |
G |
7: 19,678,673 (GRCm39) |
L39P |
probably damaging |
Het |
| Il17rd |
A |
G |
14: 26,821,488 (GRCm39) |
R261G |
possibly damaging |
Het |
| Krt75 |
C |
T |
15: 101,479,503 (GRCm39) |
D276N |
probably benign |
Het |
| Lox |
T |
C |
18: 52,660,031 (GRCm39) |
T268A |
possibly damaging |
Het |
| Mroh4 |
T |
C |
15: 74,481,568 (GRCm39) |
S825G |
probably benign |
Het |
| Nlrp9c |
T |
C |
7: 26,084,850 (GRCm39) |
D243G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,636,018 (GRCm39) |
Y219H |
probably damaging |
Het |
| Or1x6 |
T |
A |
11: 50,939,564 (GRCm39) |
V210E |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,825,916 (GRCm39) |
T131N |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,160,522 (GRCm39) |
L781H |
probably damaging |
Het |
| Proz |
A |
T |
8: 13,123,451 (GRCm39) |
I241F |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,333,097 (GRCm39) |
C2769S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,913,836 (GRCm39) |
I1076T |
possibly damaging |
Het |
| Snrnp70 |
A |
T |
7: 45,036,843 (GRCm39) |
D100E |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,850,566 (GRCm39) |
L240Q |
possibly damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,637 (GRCm39) |
S781P |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,842,675 (GRCm39) |
|
probably benign |
Het |
| Zfta |
C |
T |
19: 7,398,712 (GRCm39) |
R243* |
probably null |
Het |
|
| Other mutations in Cfap73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4043:Cfap73
|
UTSW |
5 |
120,768,030 (GRCm39) |
splice site |
probably null |
|
|
R4285:Cfap73
|
UTSW |
5 |
120,770,654 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4457:Cfap73
|
UTSW |
5 |
120,768,215 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4754:Cfap73
|
UTSW |
5 |
120,767,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Cfap73
|
UTSW |
5 |
120,768,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Cfap73
|
UTSW |
5 |
120,767,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5513:Cfap73
|
UTSW |
5 |
120,769,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5735:Cfap73
|
UTSW |
5 |
120,770,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6045:Cfap73
|
UTSW |
5 |
120,769,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Cfap73
|
UTSW |
5 |
120,772,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Cfap73
|
UTSW |
5 |
120,768,149 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7173:Cfap73
|
UTSW |
5 |
120,772,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7219:Cfap73
|
UTSW |
5 |
120,768,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Cfap73
|
UTSW |
5 |
120,768,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8721:Cfap73
|
UTSW |
5 |
120,768,089 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8985:Cfap73
|
UTSW |
5 |
120,768,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9006:Cfap73
|
UTSW |
5 |
120,767,760 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGCACTGTCTCTGGTGC -3'
(R):5'- AGGGAAGGTCATTTCAGGGC -3'
Sequencing Primer
(F):5'- GCGAAGTATTTGCCTCAACC -3'
(R):5'- CATTTCAGGGCCTGAGATGTCC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation