Incidental Mutation 'R6790:Cfap97'
| ID |
532554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap97
|
| Ensembl Gene |
ENSMUSG00000031631 |
| Gene Name |
cilia and flagella associated protein 97 |
| Synonyms |
1110068E21Rik, 4933411K20Rik |
| MMRRC Submission |
044903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6790 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46615515-46648627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 46623113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 168
(V168L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034048]
[ENSMUST00000110376]
[ENSMUST00000145229]
[ENSMUST00000154040]
[ENSMUST00000164504]
|
| AlphaFold |
Q6ZPR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034048
AA Change: V168L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034048
Gene: ENSMUSG00000031631
AA Change: V168L
| 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: V168L
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106005
Gene: ENSMUSG00000031631
AA Change: V168L
| 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 |
possibly damaging
Transcript: ENSMUST00000145229
AA Change: V168L
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115734
Gene: ENSMUSG00000031631
AA Change: V168L
| 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: ENSMUST00000154040
AA Change: V168L
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120522
Gene: ENSMUSG00000031631
AA Change: V168L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164504
AA Change: V168L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133211
Gene: ENSMUSG00000031631
AA Change: V168L
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
A |
4: 155,987,448 (GRCm39) |
S457T |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,401,385 (GRCm39) |
V881A |
probably benign |
Het |
| Ankrd65 |
T |
G |
4: 155,877,260 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
A |
G |
10: 50,521,808 (GRCm39) |
E441G |
probably damaging |
Het |
| Atf5 |
A |
T |
7: 44,462,679 (GRCm39) |
|
probably null |
Het |
| Crh |
T |
G |
3: 19,748,459 (GRCm39) |
E61A |
probably damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,833 (GRCm39) |
V190M |
probably damaging |
Het |
| Cyp3a59 |
A |
C |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,223,079 (GRCm39) |
K445R |
probably damaging |
Het |
| Eng |
C |
A |
2: 32,559,457 (GRCm39) |
T82N |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,222,996 (GRCm39) |
T968A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,821,283 (GRCm39) |
N5672S |
possibly damaging |
Het |
| Gm21149 |
A |
C |
5: 15,677,103 (GRCm39) |
D250E |
unknown |
Het |
| Gon4l |
A |
G |
3: 88,766,305 (GRCm39) |
E448G |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,236,382 (GRCm39) |
S2207P |
unknown |
Het |
| Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,309,698 (GRCm39) |
K954E |
probably damaging |
Het |
| Lrrc20 |
G |
T |
10: 61,362,898 (GRCm39) |
V48F |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,235 (GRCm39) |
I915V |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,164,260 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,142,304 (GRCm39) |
T247A |
probably benign |
Het |
| Or3a1b |
T |
A |
11: 74,012,427 (GRCm39) |
L104H |
probably damaging |
Het |
| Pate13 |
G |
T |
9: 35,820,127 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,373,261 (GRCm39) |
V176I |
probably benign |
Het |
| Pira2 |
A |
C |
7: 3,845,442 (GRCm39) |
V314G |
probably damaging |
Het |
| Potefam3e |
A |
T |
8: 19,779,801 (GRCm39) |
I14F |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,507,278 (GRCm39) |
D624G |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,824,939 (GRCm39) |
T396A |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,730,464 (GRCm39) |
D84G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,206 (GRCm39) |
T538A |
probably benign |
Het |
| Slk |
T |
A |
19: 47,624,007 (GRCm39) |
C991S |
probably damaging |
Het |
| Stmn1 |
T |
C |
4: 134,198,125 (GRCm39) |
L54S |
probably damaging |
Het |
| Tuft1 |
C |
G |
3: 94,535,537 (GRCm39) |
E128D |
possibly damaging |
Het |
| Ugt8a |
T |
C |
3: 125,665,340 (GRCm39) |
T386A |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,127,600 (GRCm39) |
V13A |
probably benign |
Het |
|
| Other mutations in Cfap97 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Cfap97
|
APN |
8 |
46,623,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCACGAAGTTCCTCAGTG -3'
(R):5'- AAGGCTGTGCACTTGATTTTCTTC -3'
Sequencing Primer
(F):5'- GCACGAAGTTCCTCAGTGTTGAC -3'
(R):5'- GGGGGTTACACTAGAAACACACTTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation