Incidental Mutation 'R9627:Cfap251'
| ID |
725209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap251
|
| Ensembl Gene |
ENSMUSG00000029442 |
| Gene Name |
cilia and flagella associated protein 251 |
| Synonyms |
4933428F06Rik, Wdr66, 4930415N18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R9627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
123390196-123465547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123460557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1173
(D1173G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069311]
[ENSMUST00000121964]
|
| AlphaFold |
E9Q743 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069311
AA Change: D199G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000069782
Gene: ENSMUSG00000029442
AA Change: D199G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
54 |
95 |
3e-24 |
BLAST |
|
SCOP:d1exra_
|
157 |
267 |
3e-4 |
SMART |
|
low complexity region
|
300 |
311 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121964
AA Change: D1173G
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: D1173G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
160 |
N/A |
INTRINSIC |
|
coiled coil region
|
243 |
299 |
N/A |
INTRINSIC |
|
WD40
|
437 |
478 |
1.58e-2 |
SMART |
|
WD40
|
481 |
525 |
6.16e0 |
SMART |
|
Blast:WD40
|
532 |
572 |
2e-15 |
BLAST |
|
Blast:WD40
|
584 |
623 |
5e-17 |
BLAST |
|
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
|
WD40
|
643 |
677 |
7.64e1 |
SMART |
|
Blast:WD40
|
686 |
742 |
1e-13 |
BLAST |
|
WD40
|
745 |
784 |
8.62e-4 |
SMART |
|
WD40
|
789 |
827 |
1.19e1 |
SMART |
|
WD40
|
832 |
871 |
5.97e-1 |
SMART |
|
WD40
|
880 |
923 |
1.23e2 |
SMART |
|
WD40
|
1030 |
1070 |
1.15e0 |
SMART |
|
low complexity region
|
1274 |
1285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150155
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,487,834 (GRCm39) |
|
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,854,530 (GRCm39) |
V898A |
probably benign |
Het |
| Adamtsl1 |
A |
T |
4: 86,306,762 (GRCm39) |
D1400V |
possibly damaging |
Het |
| Akap6 |
T |
A |
12: 53,151,413 (GRCm39) |
M1159K |
|
Het |
| Atg13 |
C |
A |
2: 91,509,098 (GRCm39) |
G446* |
probably null |
Het |
| Atp6v1g2 |
G |
T |
17: 35,454,956 (GRCm39) |
|
probably null |
Het |
| Bmp2k |
C |
T |
5: 97,201,028 (GRCm39) |
A316V |
possibly damaging |
Het |
| Ccdc34 |
AAGA |
AA |
2: 109,871,010 (GRCm39) |
|
probably null |
Het |
| Cln6 |
T |
A |
9: 62,754,303 (GRCm39) |
I115N |
probably damaging |
Het |
| Cma1 |
T |
C |
14: 56,181,289 (GRCm39) |
T39A |
probably benign |
Het |
| Cpsf1 |
A |
T |
15: 76,484,088 (GRCm39) |
M744K |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,260,972 (GRCm39) |
Y721C |
probably damaging |
Het |
| Dcaf12 |
A |
G |
4: 41,293,976 (GRCm39) |
L387P |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,918,468 (GRCm39) |
E347G |
possibly damaging |
Het |
| Fig4 |
T |
A |
10: 41,108,178 (GRCm39) |
H674L |
probably benign |
Het |
| Foxa3 |
T |
A |
7: 18,748,458 (GRCm39) |
K223* |
probably null |
Het |
| Gimap7 |
T |
C |
6: 48,700,600 (GRCm39) |
V62A |
probably damaging |
Het |
| Glrx3 |
T |
A |
7: 137,046,755 (GRCm39) |
V49E |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,756,167 (GRCm39) |
Y823C |
probably damaging |
Het |
| H3c7 |
G |
T |
13: 23,728,793 (GRCm39) |
V47L |
possibly damaging |
Het |
| Hapln4 |
C |
A |
8: 70,539,520 (GRCm39) |
R184S |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,506,054 (GRCm39) |
C3824Y |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,233,235 (GRCm39) |
S1158P |
unknown |
Het |
| Itln1 |
A |
G |
1: 171,360,985 (GRCm39) |
S36P |
probably benign |
Het |
| Kcnh5 |
A |
C |
12: 75,160,990 (GRCm39) |
I306S |
probably damaging |
Het |
| Kctd19 |
T |
A |
8: 106,113,997 (GRCm39) |
M559L |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,158,558 (GRCm39) |
I9T |
possibly damaging |
Het |
| Klra5 |
G |
A |
6: 129,883,701 (GRCm39) |
T142I |
probably benign |
Het |
| Ldlrad3 |
A |
G |
2: 101,785,423 (GRCm39) |
V184A |
probably damaging |
Het |
| Lrrc27 |
T |
C |
7: 138,808,582 (GRCm39) |
|
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,646,817 (GRCm39) |
V340A |
probably benign |
Het |
| Mrps31 |
T |
C |
8: 22,901,558 (GRCm39) |
V26A |
probably benign |
Het |
| Mtrr |
G |
A |
13: 68,725,756 (GRCm39) |
L118F |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nbas |
G |
T |
12: 13,350,203 (GRCm39) |
V285F |
possibly damaging |
Het |
| Nfrkb |
T |
C |
9: 31,321,189 (GRCm39) |
L675P |
possibly damaging |
Het |
| Or10v9 |
T |
A |
19: 11,832,910 (GRCm39) |
I136F |
possibly damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,665 (GRCm39) |
V281E |
|
Het |
| Or5k15 |
T |
A |
16: 58,709,771 (GRCm39) |
I271L |
probably benign |
Het |
| Phkg1 |
C |
T |
5: 129,893,376 (GRCm39) |
W358* |
probably null |
Het |
| Plekhj1 |
A |
C |
10: 80,633,494 (GRCm39) |
I51S |
possibly damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
| Prkg2 |
T |
C |
5: 99,079,869 (GRCm39) |
*763W |
probably null |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,349 (GRCm39) |
F292S |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,007,002 (GRCm39) |
C769* |
probably null |
Het |
| Rmi1 |
C |
A |
13: 58,557,366 (GRCm39) |
D538E |
possibly damaging |
Het |
| Scn4a |
C |
T |
11: 106,212,839 (GRCm39) |
V1389I |
probably benign |
Het |
| Serpinc1 |
A |
T |
1: 160,821,101 (GRCm39) |
K183* |
probably null |
Het |
| Setd4 |
A |
T |
16: 93,380,562 (GRCm39) |
M399K |
possibly damaging |
Het |
| Setx |
T |
C |
2: 29,034,661 (GRCm39) |
M382T |
probably damaging |
Het |
| Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
| Slfn2 |
A |
T |
11: 82,960,367 (GRCm39) |
K115N |
|
Het |
| Snrk |
A |
T |
9: 121,966,427 (GRCm39) |
K117* |
probably null |
Het |
| Spata31 |
A |
G |
13: 65,065,409 (GRCm39) |
Y38C |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,793,704 (GRCm39) |
T464A |
probably damaging |
Het |
| Tagap1 |
C |
T |
17: 7,224,327 (GRCm39) |
G123D |
probably benign |
Het |
| Tas2r136 |
T |
C |
6: 132,754,948 (GRCm39) |
K60E |
possibly damaging |
Het |
| Tasor |
T |
C |
14: 27,194,123 (GRCm39) |
S1108P |
probably benign |
Het |
| Tmem200b |
A |
C |
4: 131,649,437 (GRCm39) |
Y119S |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Wwp2 |
T |
G |
8: 108,278,959 (GRCm39) |
L578W |
probably damaging |
Het |
| Zfp53 |
T |
A |
17: 21,728,745 (GRCm39) |
C259* |
probably null |
Het |
|
| Other mutations in Cfap251 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Cfap251
|
APN |
5 |
123,412,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01090:Cfap251
|
APN |
5 |
123,418,052 (GRCm39) |
splice site |
probably benign |
|
|
IGL01387:Cfap251
|
APN |
5 |
123,421,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Cfap251
|
APN |
5 |
123,418,015 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01642:Cfap251
|
APN |
5 |
123,426,761 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01720:Cfap251
|
APN |
5 |
123,460,557 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02104:Cfap251
|
APN |
5 |
123,440,761 (GRCm39) |
nonsense |
probably null |
|
|
IGL02160:Cfap251
|
APN |
5 |
123,394,081 (GRCm39) |
missense |
unknown |
|
|
IGL02238:Cfap251
|
APN |
5 |
123,440,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Cfap251
|
APN |
5 |
123,392,699 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03183:Cfap251
|
APN |
5 |
123,392,682 (GRCm39) |
unclassified |
probably benign |
|
|
R0078:Cfap251
|
UTSW |
5 |
123,436,633 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0207:Cfap251
|
UTSW |
5 |
123,421,510 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0411:Cfap251
|
UTSW |
5 |
123,428,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0414:Cfap251
|
UTSW |
5 |
123,425,476 (GRCm39) |
splice site |
probably null |
|
|
R0722:Cfap251
|
UTSW |
5 |
123,394,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Cfap251
|
UTSW |
5 |
123,392,673 (GRCm39) |
small deletion |
probably benign |
|
|
R1527:Cfap251
|
UTSW |
5 |
123,425,408 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1924:Cfap251
|
UTSW |
5 |
123,440,802 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2022:Cfap251
|
UTSW |
5 |
123,411,853 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2110:Cfap251
|
UTSW |
5 |
123,392,438 (GRCm39) |
unclassified |
probably benign |
|
|
R2112:Cfap251
|
UTSW |
5 |
123,392,438 (GRCm39) |
unclassified |
probably benign |
|
|
R2147:Cfap251
|
UTSW |
5 |
123,394,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2258:Cfap251
|
UTSW |
5 |
123,421,411 (GRCm39) |
splice site |
probably null |
|
|
R2407:Cfap251
|
UTSW |
5 |
123,428,032 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2418:Cfap251
|
UTSW |
5 |
123,392,331 (GRCm39) |
unclassified |
probably benign |
|
|
R2497:Cfap251
|
UTSW |
5 |
123,421,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Cfap251
|
UTSW |
5 |
123,394,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3437:Cfap251
|
UTSW |
5 |
123,392,435 (GRCm39) |
unclassified |
probably benign |
|
|
R3730:Cfap251
|
UTSW |
5 |
123,464,631 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3800:Cfap251
|
UTSW |
5 |
123,392,784 (GRCm39) |
unclassified |
probably benign |
|
|
R4018:Cfap251
|
UTSW |
5 |
123,460,517 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4181:Cfap251
|
UTSW |
5 |
123,431,873 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4302:Cfap251
|
UTSW |
5 |
123,431,873 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4640:Cfap251
|
UTSW |
5 |
123,440,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4701:Cfap251
|
UTSW |
5 |
123,460,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4799:Cfap251
|
UTSW |
5 |
123,440,835 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4812:Cfap251
|
UTSW |
5 |
123,425,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4922:Cfap251
|
UTSW |
5 |
123,394,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5123:Cfap251
|
UTSW |
5 |
123,411,696 (GRCm39) |
start gained |
probably benign |
|
|
R5314:Cfap251
|
UTSW |
5 |
123,460,626 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5445:Cfap251
|
UTSW |
5 |
123,425,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Cfap251
|
UTSW |
5 |
123,392,508 (GRCm39) |
unclassified |
probably benign |
|
|
R5462:Cfap251
|
UTSW |
5 |
123,436,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5514:Cfap251
|
UTSW |
5 |
123,425,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5600:Cfap251
|
UTSW |
5 |
123,426,761 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5635:Cfap251
|
UTSW |
5 |
123,460,635 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5767:Cfap251
|
UTSW |
5 |
123,436,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5943:Cfap251
|
UTSW |
5 |
123,424,420 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6000:Cfap251
|
UTSW |
5 |
123,392,435 (GRCm39) |
unclassified |
probably benign |
|
|
R6030:Cfap251
|
UTSW |
5 |
123,412,267 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6030:Cfap251
|
UTSW |
5 |
123,412,267 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6293:Cfap251
|
UTSW |
5 |
123,460,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Cfap251
|
UTSW |
5 |
123,440,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6356:Cfap251
|
UTSW |
5 |
123,392,729 (GRCm39) |
unclassified |
probably benign |
|
|
R6427:Cfap251
|
UTSW |
5 |
123,464,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Cfap251
|
UTSW |
5 |
123,416,421 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6909:Cfap251
|
UTSW |
5 |
123,425,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Cfap251
|
UTSW |
5 |
123,435,521 (GRCm39) |
nonsense |
probably null |
|
|
R7707:Cfap251
|
UTSW |
5 |
123,391,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7715:Cfap251
|
UTSW |
5 |
123,400,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7809:Cfap251
|
UTSW |
5 |
123,402,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Cfap251
|
UTSW |
5 |
123,392,322 (GRCm39) |
unclassified |
probably benign |
|
|
R7842:Cfap251
|
UTSW |
5 |
123,392,487 (GRCm39) |
missense |
unknown |
|
|
R7898:Cfap251
|
UTSW |
5 |
123,460,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7967:Cfap251
|
UTSW |
5 |
123,421,579 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8004:Cfap251
|
UTSW |
5 |
123,392,513 (GRCm39) |
missense |
unknown |
|
|
R8068:Cfap251
|
UTSW |
5 |
123,394,229 (GRCm39) |
missense |
not run |
|
|
R8141:Cfap251
|
UTSW |
5 |
123,424,493 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8222:Cfap251
|
UTSW |
5 |
123,440,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8242:Cfap251
|
UTSW |
5 |
123,411,914 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8303:Cfap251
|
UTSW |
5 |
123,460,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8323:Cfap251
|
UTSW |
5 |
123,435,588 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8773:Cfap251
|
UTSW |
5 |
123,411,913 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8869:Cfap251
|
UTSW |
5 |
123,460,505 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8881:Cfap251
|
UTSW |
5 |
123,462,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Cfap251
|
UTSW |
5 |
123,424,481 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9099:Cfap251
|
UTSW |
5 |
123,418,082 (GRCm39) |
intron |
probably benign |
|
|
R9236:Cfap251
|
UTSW |
5 |
123,428,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9385:Cfap251
|
UTSW |
5 |
123,426,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Cfap251
|
UTSW |
5 |
123,460,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Cfap251
|
UTSW |
5 |
123,392,317 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Cfap251
|
UTSW |
5 |
123,412,224 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF015:Cfap251
|
UTSW |
5 |
123,412,224 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF015:Cfap251
|
UTSW |
5 |
123,392,305 (GRCm39) |
small insertion |
probably benign |
|
|
RF017:Cfap251
|
UTSW |
5 |
123,391,953 (GRCm39) |
small insertion |
probably benign |
|
|
RF024:Cfap251
|
UTSW |
5 |
123,391,952 (GRCm39) |
small insertion |
probably benign |
|
|
RF024:Cfap251
|
UTSW |
5 |
123,391,951 (GRCm39) |
small insertion |
probably benign |
|
|
RF024:Cfap251
|
UTSW |
5 |
123,391,946 (GRCm39) |
small insertion |
probably benign |
|
|
X0062:Cfap251
|
UTSW |
5 |
123,412,300 (GRCm39) |
missense |
probably benign |
0.29 |
|
X0066:Cfap251
|
UTSW |
5 |
123,426,710 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCAATCTGTCCTGGGG -3'
(R):5'- CTTACCTTTGGTGAGGAGTAAGTTC -3'
Sequencing Primer
(F):5'- TCCAGTTTTCACGAGTGGC -3'
(R):5'- GGAGTAAGTTCAGGAAATCCTCTCTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation