Incidental Mutation 'IGL00325:Cfap97'
| ID |
6224 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap97
|
| Ensembl Gene |
ENSMUSG00000031631 |
| Gene Name |
cilia and flagella associated protein 97 |
| Synonyms |
1110068E21Rik, 4933411K20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL00325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
46615515-46648627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46623222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 204
(S204L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034048]
[ENSMUST00000110376]
[ENSMUST00000145229]
[ENSMUST00000154040]
[ENSMUST00000164504]
|
| AlphaFold |
Q6ZPR1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034048
AA Change: S204L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034048
Gene: ENSMUSG00000031631
AA Change: S204L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
294 |
N/A |
INTRINSIC |
|
Pfam:KIAA1430
|
352 |
457 |
4.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110376
AA Change: S204L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000106005
Gene: ENSMUSG00000031631
AA Change: S204L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
294 |
N/A |
INTRINSIC |
|
Pfam:KIAA1430
|
353 |
456 |
1.4e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145080
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145229
AA Change: S204L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115734
Gene: ENSMUSG00000031631
AA Change: S204L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154040
AA Change: S204L
|
| SMART Domains |
Protein: ENSMUSP00000120522
Gene: ENSMUSG00000031631
AA Change: S204L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164504
AA Change: S204L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133211
Gene: ENSMUSG00000031631
AA Change: S204L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
294 |
N/A |
INTRINSIC |
|
Pfam:KIAA1430
|
352 |
457 |
4.4e-21 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,773,517 (GRCm39) |
S431P |
possibly damaging |
Het |
| Arid1b |
C |
A |
17: 5,387,385 (GRCm39) |
R1613S |
possibly damaging |
Het |
| Atxn2l |
T |
C |
7: 126,097,460 (GRCm39) |
D196G |
possibly damaging |
Het |
| Bag3 |
C |
A |
7: 128,148,065 (GRCm39) |
T560K |
probably benign |
Het |
| BC051076 |
A |
G |
5: 88,112,354 (GRCm39) |
|
probably benign |
Het |
| Becn1 |
A |
T |
11: 101,186,448 (GRCm39) |
M18K |
probably benign |
Het |
| C130050O18Rik |
G |
A |
5: 139,400,493 (GRCm39) |
C182Y |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,811,627 (GRCm39) |
|
probably benign |
Het |
| Gaa |
A |
G |
11: 119,165,786 (GRCm39) |
T100A |
probably benign |
Het |
| Gab2 |
C |
T |
7: 96,948,465 (GRCm39) |
P352S |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,465,111 (GRCm39) |
I360N |
possibly damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gulo |
G |
T |
14: 66,243,398 (GRCm39) |
A40D |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,204 (GRCm39) |
I671V |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,747,481 (GRCm39) |
V1028A |
possibly damaging |
Het |
| Lamb3 |
T |
C |
1: 193,002,755 (GRCm39) |
C67R |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,235,868 (GRCm39) |
V1237E |
probably damaging |
Het |
| Nat8 |
C |
T |
6: 85,807,579 (GRCm39) |
V185M |
probably benign |
Het |
| Ninj2 |
A |
C |
6: 120,175,023 (GRCm39) |
T65P |
probably benign |
Het |
| Nrg2 |
T |
C |
18: 36,154,271 (GRCm39) |
M549V |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,818 (GRCm39) |
M801V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,170,875 (GRCm39) |
D589G |
probably damaging |
Het |
| Ppp1r35 |
T |
A |
5: 137,777,799 (GRCm39) |
V155E |
probably damaging |
Het |
| Prss36 |
T |
A |
7: 127,544,099 (GRCm39) |
|
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,960,065 (GRCm39) |
K182E |
probably damaging |
Het |
| Ring1 |
T |
G |
17: 34,241,983 (GRCm39) |
E142A |
possibly damaging |
Het |
| Sidt2 |
T |
A |
9: 45,853,534 (GRCm39) |
M689L |
possibly damaging |
Het |
| Slc45a4 |
A |
G |
15: 73,459,504 (GRCm39) |
V95A |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,947,480 (GRCm39) |
V1278A |
possibly damaging |
Het |
| Stk36 |
A |
T |
1: 74,673,861 (GRCm39) |
K1251N |
possibly damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,262 (GRCm39) |
S53R |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,858 (GRCm39) |
E243V |
probably benign |
Het |
|
| Other mutations in Cfap97 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Cfap97
|
APN |
8 |
46,623,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02327:Cfap97
|
APN |
8 |
46,623,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Cfap97
|
APN |
8 |
46,623,315 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4289:Cfap97
|
UTSW |
8 |
46,645,698 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4777:Cfap97
|
UTSW |
8 |
46,648,334 (GRCm39) |
nonsense |
probably null |
|
|
R4844:Cfap97
|
UTSW |
8 |
46,622,712 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5369:Cfap97
|
UTSW |
8 |
46,622,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Cfap97
|
UTSW |
8 |
46,623,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Cfap97
|
UTSW |
8 |
46,634,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6227:Cfap97
|
UTSW |
8 |
46,644,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6790:Cfap97
|
UTSW |
8 |
46,623,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7409:Cfap97
|
UTSW |
8 |
46,645,733 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7964:Cfap97
|
UTSW |
8 |
46,623,237 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8077:Cfap97
|
UTSW |
8 |
46,623,482 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8960:Cfap97
|
UTSW |
8 |
46,623,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Cfap97
|
UTSW |
8 |
46,623,114 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9186:Cfap97
|
UTSW |
8 |
46,644,665 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2012-04-20 |
Incidental Mutation