Incidental Mutation 'PIT4514001:Cfap126'
| ID |
556252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap126
|
| Ensembl Gene |
ENSMUSG00000026649 |
| Gene Name |
cilia and flagella associated protein 126 |
| Synonyms |
Flattop, 1700009P17Rik, Fltp |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4514001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
170941487-170954536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 170952881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 45
(D45N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027959]
[ENSMUST00000081560]
[ENSMUST00000111336]
[ENSMUST00000124157]
[ENSMUST00000127394]
[ENSMUST00000129651]
[ENSMUST00000143623]
[ENSMUST00000151340]
|
| AlphaFold |
Q6P8X9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027959
AA Change: D45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027959
Gene: ENSMUSG00000026649
AA Change: D45N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081560
|
| SMART Domains |
Protein: ENSMUSP00000080273
Gene: ENSMUSG00000058076
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sdh_cyt
|
12 |
132 |
2.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111336
|
| SMART Domains |
Protein: ENSMUSP00000106968
Gene: ENSMUSG00000058076
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sdh_cyt
|
46 |
166 |
2.4e-28 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115108
Gene: ENSMUSG00000026649
AA Change: D36N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
150 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127394
AA Change: D45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000114967
Gene: ENSMUSG00000026649
AA Change: D89N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143623
AA Change: D45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151340
AA Change: D45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123188
Gene: ENSMUSG00000026649
AA Change: D45N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156789
AA Change: D42N
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.6%
- 10x: 84.2%
- 20x: 70.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
G |
13: 61,001,328 (GRCm39) |
|
probably null |
Het |
| Aadacl4fm2 |
T |
C |
4: 144,282,081 (GRCm39) |
Y237C |
probably damaging |
Het |
| Abcc10 |
T |
A |
17: 46,616,574 (GRCm39) |
I1247F |
probably benign |
Het |
| Acap3 |
G |
A |
4: 155,987,835 (GRCm39) |
A524T |
probably benign |
Het |
| Adcy10 |
T |
A |
1: 165,384,360 (GRCm39) |
N1040K |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,312,798 (GRCm39) |
D9G |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,679,604 (GRCm39) |
T391A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,497,991 (GRCm39) |
V344A |
probably benign |
Het |
| Birc7 |
T |
A |
2: 180,573,099 (GRCm39) |
I172N |
possibly damaging |
Het |
| Cfap299 |
T |
A |
5: 98,949,730 (GRCm39) |
H221Q |
probably benign |
Het |
| Cit |
G |
A |
5: 116,135,913 (GRCm39) |
|
probably null |
Het |
| Col26a1 |
A |
G |
5: 136,780,579 (GRCm39) |
V295A |
probably benign |
Het |
| Efcab15 |
T |
C |
11: 103,091,960 (GRCm39) |
D27G |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,961,355 (GRCm39) |
Q867* |
probably null |
Het |
| Fn1 |
A |
G |
1: 71,667,615 (GRCm39) |
S793P |
probably benign |
Het |
| Foxb1 |
T |
A |
9: 69,667,503 (GRCm39) |
Y9F |
probably damaging |
Het |
| Gpc1 |
T |
A |
1: 92,785,279 (GRCm39) |
M406K |
probably benign |
Het |
| Gsg1 |
T |
C |
6: 135,214,574 (GRCm39) |
T312A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,545,238 (GRCm39) |
I2790F |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Lmntd1 |
AGACTGTAAGTTTCTCAAATGTGTACCTGGA |
AGA |
6: 145,372,979 (GRCm39) |
|
probably null |
Het |
| Mcph1 |
A |
G |
8: 18,681,906 (GRCm39) |
K348E |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,082,758 (GRCm39) |
N71K |
probably damaging |
Het |
| Or8d4 |
T |
C |
9: 40,038,595 (GRCm39) |
I221V |
probably damaging |
Het |
| Pik3cg |
T |
A |
12: 32,254,902 (GRCm39) |
R362W |
probably damaging |
Het |
| Pkp3 |
T |
C |
7: 140,669,623 (GRCm39) |
L765P |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,477,245 (GRCm39) |
I1252F |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,387,181 (GRCm39) |
F1154S |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,514,523 (GRCm39) |
F1084L |
probably damaging |
Het |
| Shmt1 |
G |
A |
11: 60,695,173 (GRCm39) |
S47L |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,761,486 (GRCm39) |
K40R |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,920,527 (GRCm39) |
T421S |
possibly damaging |
Het |
| Speer4f1 |
T |
A |
5: 17,683,754 (GRCm39) |
N139K |
possibly damaging |
Het |
| Syne2 |
T |
G |
12: 76,151,789 (GRCm39) |
N1883K |
probably damaging |
Het |
| Tgfb1i1 |
C |
T |
7: 127,848,353 (GRCm39) |
R191C |
probably damaging |
Het |
| Tmem39b |
A |
C |
4: 129,578,290 (GRCm39) |
N310K |
possibly damaging |
Het |
| Trim3 |
T |
C |
7: 105,267,417 (GRCm39) |
T321A |
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,293,974 (GRCm39) |
I687T |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,251,523 (GRCm39) |
D316G |
probably benign |
Het |
| Zfp639 |
A |
G |
3: 32,574,409 (GRCm39) |
I345V |
possibly damaging |
Het |
| Zfp764 |
T |
C |
7: 127,003,913 (GRCm39) |
H406R |
probably benign |
Het |
|
| Other mutations in Cfap126 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01732:Cfap126
|
APN |
1 |
170,954,305 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0014:Cfap126
|
UTSW |
1 |
170,953,353 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0466:Cfap126
|
UTSW |
1 |
170,953,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Cfap126
|
UTSW |
1 |
170,953,386 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2317:Cfap126
|
UTSW |
1 |
170,953,700 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3684:Cfap126
|
UTSW |
1 |
170,941,600 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4601:Cfap126
|
UTSW |
1 |
170,941,627 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5960:Cfap126
|
UTSW |
1 |
170,952,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6717:Cfap126
|
UTSW |
1 |
170,941,671 (GRCm39) |
splice site |
probably null |
|
|
R6999:Cfap126
|
UTSW |
1 |
170,953,733 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8212:Cfap126
|
UTSW |
1 |
170,953,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:Cfap126
|
UTSW |
1 |
170,953,690 (GRCm39) |
missense |
probably benign |
|
|
X0065:Cfap126
|
UTSW |
1 |
170,954,308 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCCAGTTTCCGATGAC -3'
(R):5'- GGAGCTCTGCTTTTATGCATCAG -3'
Sequencing Primer
(F):5'- AGTTTCCGATGACTGGCCC -3'
(R):5'- ATTCACTGTGTAGACCAGGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation