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 |
Incidental Mutation