Incidental Mutation 'R6227:Cfap97'
ID |
504404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap97
|
Ensembl Gene |
ENSMUSG00000031631 |
Gene Name |
cilia and flagella associated protein 97 |
Synonyms |
1110068E21Rik, 4933411K20Rik |
MMRRC Submission |
044398-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R6227 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
46615515-46648627 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 46644769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133211
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034048]
[ENSMUST00000110376]
[ENSMUST00000164504]
|
AlphaFold |
Q6ZPR1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034048
|
SMART Domains |
Protein: ENSMUSP00000034048 Gene: ENSMUSG00000031631
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 null
Transcript: ENSMUST00000110376
|
SMART Domains |
Protein: ENSMUSP00000106005 Gene: ENSMUSG00000031631
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 |
probably null
Transcript: ENSMUST00000164504
|
SMART Domains |
Protein: ENSMUSP00000133211 Gene: ENSMUSG00000031631
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: 98.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (61/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
C |
2: 19,558,581 (GRCm39) |
|
probably null |
Het |
Abca4 |
T |
A |
3: 121,930,743 (GRCm39) |
Y205* |
probably null |
Het |
Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,510,841 (GRCm39) |
D550G |
possibly damaging |
Het |
Bicd1 |
T |
A |
6: 149,414,674 (GRCm39) |
Y462* |
probably null |
Het |
Csf1r |
T |
A |
18: 61,258,900 (GRCm39) |
Y706* |
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dst |
A |
G |
1: 34,233,621 (GRCm39) |
D3443G |
probably benign |
Het |
Fktn |
C |
T |
4: 53,731,136 (GRCm39) |
A96V |
probably benign |
Het |
Inppl1 |
G |
A |
7: 101,473,506 (GRCm39) |
T1048M |
possibly damaging |
Het |
Itga2 |
T |
C |
13: 114,976,097 (GRCm39) |
T1092A |
probably benign |
Het |
Lactbl1 |
C |
A |
4: 136,365,229 (GRCm39) |
A527E |
probably benign |
Het |
Miga1 |
C |
T |
3: 151,984,586 (GRCm39) |
A510T |
probably benign |
Het |
Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
Naca |
T |
G |
10: 127,879,785 (GRCm39) |
|
probably benign |
Het |
Or51f5 |
A |
T |
7: 102,423,883 (GRCm39) |
I51F |
probably damaging |
Het |
Or52l1 |
T |
C |
7: 104,829,917 (GRCm39) |
Y216C |
probably damaging |
Het |
Or6c69 |
T |
A |
10: 129,747,536 (GRCm39) |
T204S |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,783,862 (GRCm39) |
M1986K |
probably damaging |
Het |
Pex6 |
T |
A |
17: 47,023,034 (GRCm39) |
D203E |
probably benign |
Het |
Rlbp1 |
T |
C |
7: 79,029,876 (GRCm39) |
N119S |
probably benign |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Rusc1 |
T |
A |
3: 88,999,048 (GRCm39) |
T245S |
probably benign |
Het |
Slc26a5 |
A |
T |
5: 22,026,095 (GRCm39) |
C378S |
probably damaging |
Het |
Smtn |
A |
G |
11: 3,477,624 (GRCm39) |
|
probably benign |
Het |
Tes3-ps |
T |
C |
13: 49,647,516 (GRCm39) |
C131R |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,911,190 (GRCm39) |
E331G |
probably null |
Het |
Tlr4 |
T |
C |
4: 66,758,832 (GRCm39) |
Y542H |
probably benign |
Het |
Trf |
G |
A |
9: 103,107,504 (GRCm39) |
|
probably benign |
Het |
Trim75 |
T |
A |
8: 65,435,748 (GRCm39) |
H234L |
probably benign |
Het |
Zan |
T |
G |
5: 137,466,605 (GRCm39) |
R417S |
probably damaging |
Het |
Zfp213 |
T |
C |
17: 23,776,996 (GRCm39) |
T349A |
probably benign |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCATAGTGCATTTCTGGTTG -3'
(R):5'- CTGTATAGACATGCACAAGAAGTAC -3'
Sequencing Primer
(F):5'- CATAGTGCATTTCTGGTTGTAGAATC -3'
(R):5'- TGCACAAGAAGTACAAAATTGCATG -3'
|
Posted On |
2018-02-28 |