Incidental Mutation 'R6662:Cfap45'
| ID |
528001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap45
|
| Ensembl Gene |
ENSMUSG00000026546 |
| Gene Name |
cilia and flagella associated protein 45 |
| Synonyms |
1700028D05Rik, Nesg1, Ccdc19 |
| MMRRC Submission |
044782-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R6662 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172348697-172373437 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172357417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 15
(I15T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085894]
[ENSMUST00000159395]
[ENSMUST00000159792]
[ENSMUST00000161140]
[ENSMUST00000162988]
|
| AlphaFold |
Q9D9U9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085894
AA Change: I57T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: I57T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
29 |
N/A |
INTRINSIC |
|
Pfam:TPH
|
187 |
532 |
1.5e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159395
AA Change: I28T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000125224
Gene: ENSMUSG00000026546
AA Change: I28T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
128 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159792
AA Change: I28T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000124540
Gene: ENSMUSG00000026546
AA Change: I28T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
128 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161140
AA Change: I15T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162988
AA Change: I28T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,062,285 (GRCm39) |
|
probably null |
Het |
| Acox1 |
A |
G |
11: 116,066,149 (GRCm39) |
Y418H |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,105,481 (GRCm39) |
V196I |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,157,774 (GRCm39) |
K44E |
probably damaging |
Het |
| Bad |
T |
A |
19: 6,928,438 (GRCm39) |
|
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,102,085 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Casp6 |
A |
G |
3: 129,705,875 (GRCm39) |
T181A |
probably benign |
Het |
| Catsperg2 |
G |
A |
7: 29,418,938 (GRCm39) |
|
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,511,164 (GRCm39) |
L46P |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,790,697 (GRCm39) |
L364S |
probably benign |
Het |
| Dph5 |
G |
A |
3: 115,722,205 (GRCm39) |
E228K |
probably benign |
Het |
| Fat4 |
G |
T |
3: 39,010,970 (GRCm39) |
L2023F |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,304 (GRCm39) |
N351D |
probably benign |
Het |
| Grm2 |
C |
T |
9: 106,525,252 (GRCm39) |
A488T |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,589,337 (GRCm39) |
E171G |
probably damaging |
Het |
| Il1rn |
A |
T |
2: 24,226,887 (GRCm39) |
|
probably null |
Het |
| Itih5 |
A |
T |
2: 10,253,992 (GRCm39) |
I748F |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,054,385 (GRCm39) |
D520Y |
probably damaging |
Het |
| Mgat5 |
C |
A |
1: 127,396,974 (GRCm39) |
H574N |
probably damaging |
Het |
| Moxd1 |
A |
C |
10: 24,160,658 (GRCm39) |
D437A |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,155,590 (GRCm39) |
F888L |
probably benign |
Het |
| Ncs1 |
T |
A |
2: 31,177,372 (GRCm39) |
L183Q |
probably damaging |
Het |
| Neto2 |
A |
T |
8: 86,389,844 (GRCm39) |
D206E |
probably damaging |
Het |
| Omp |
A |
G |
7: 97,794,546 (GRCm39) |
L27P |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,287 (GRCm38) |
S161P |
probably benign |
Het |
| Pate6 |
C |
A |
9: 35,701,296 (GRCm39) |
R6M |
possibly damaging |
Het |
| Pde4b |
A |
G |
4: 102,459,095 (GRCm39) |
I381M |
possibly damaging |
Het |
| Pramel5 |
A |
T |
4: 143,999,675 (GRCm39) |
N137K |
probably benign |
Het |
| Prss33 |
T |
C |
17: 24,052,934 (GRCm39) |
S247G |
probably damaging |
Het |
| Rassf9 |
T |
A |
10: 102,381,899 (GRCm39) |
L425Q |
possibly damaging |
Het |
| Setx |
A |
T |
2: 29,048,126 (GRCm39) |
D1909V |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,507,345 (GRCm39) |
K402* |
probably null |
Het |
| Slco1a6 |
G |
A |
6: 142,078,941 (GRCm39) |
T118I |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,078,416 (GRCm39) |
L6769P |
probably damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,452 (GRCm39) |
V199D |
possibly damaging |
Het |
| Tchp |
A |
G |
5: 114,858,076 (GRCm39) |
|
probably null |
Het |
| Trdn |
A |
T |
10: 33,350,483 (GRCm39) |
N684I |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,855,082 (GRCm39) |
T700K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,586,242 (GRCm39) |
V20084I |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,446,116 (GRCm39) |
Y62* |
probably null |
Het |
| Uckl1 |
A |
G |
2: 181,215,053 (GRCm39) |
Y267H |
possibly damaging |
Het |
| Zfp1005 |
G |
A |
2: 150,108,172 (GRCm39) |
|
probably null |
Het |
| Zfp786 |
T |
C |
6: 47,803,920 (GRCm39) |
N41D |
probably damaging |
Het |
| Zfp983 |
T |
C |
17: 21,881,001 (GRCm39) |
S310P |
probably damaging |
Het |
|
| Other mutations in Cfap45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Cfap45
|
APN |
1 |
172,362,912 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01936:Cfap45
|
APN |
1 |
172,361,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03235:Cfap45
|
APN |
1 |
172,366,060 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0194:Cfap45
|
UTSW |
1 |
172,368,894 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0883:Cfap45
|
UTSW |
1 |
172,359,756 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1130:Cfap45
|
UTSW |
1 |
172,373,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Cfap45
|
UTSW |
1 |
172,373,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1356:Cfap45
|
UTSW |
1 |
172,355,430 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1522:Cfap45
|
UTSW |
1 |
172,368,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Cfap45
|
UTSW |
1 |
172,372,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Cfap45
|
UTSW |
1 |
172,372,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Cfap45
|
UTSW |
1 |
172,359,728 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2204:Cfap45
|
UTSW |
1 |
172,359,728 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2205:Cfap45
|
UTSW |
1 |
172,359,728 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3156:Cfap45
|
UTSW |
1 |
172,373,291 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4059:Cfap45
|
UTSW |
1 |
172,366,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4151:Cfap45
|
UTSW |
1 |
172,359,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4445:Cfap45
|
UTSW |
1 |
172,362,794 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4548:Cfap45
|
UTSW |
1 |
172,372,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4582:Cfap45
|
UTSW |
1 |
172,357,479 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4909:Cfap45
|
UTSW |
1 |
172,357,443 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5200:Cfap45
|
UTSW |
1 |
172,372,696 (GRCm39) |
nonsense |
probably null |
|
|
R5800:Cfap45
|
UTSW |
1 |
172,366,167 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6520:Cfap45
|
UTSW |
1 |
172,368,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Cfap45
|
UTSW |
1 |
172,365,910 (GRCm39) |
splice site |
probably null |
|
|
R7390:Cfap45
|
UTSW |
1 |
172,368,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7468:Cfap45
|
UTSW |
1 |
172,362,877 (GRCm39) |
nonsense |
probably null |
|
|
R7545:Cfap45
|
UTSW |
1 |
172,366,163 (GRCm39) |
missense |
probably benign |
|
|
R7988:Cfap45
|
UTSW |
1 |
172,357,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8212:Cfap45
|
UTSW |
1 |
172,369,067 (GRCm39) |
splice site |
probably null |
|
|
R8272:Cfap45
|
UTSW |
1 |
172,355,406 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8939:Cfap45
|
UTSW |
1 |
172,372,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Cfap45
|
UTSW |
1 |
172,362,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Cfap45
|
UTSW |
1 |
172,372,851 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGGATGCTTCCCTAATACCG -3'
(R):5'- TCCAGTTTTGTGTACGTTAAGC -3'
Sequencing Primer
(F):5'- CGTAGGTGCTCTTGTGTTCTGTAG -3'
(R):5'- CCAGTTTTGTGTACGTTAAGCAAAAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation