Incidental Mutation 'R9572:Cfap221'
| ID |
722032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap221
|
| Ensembl Gene |
ENSMUSG00000036962 |
| Gene Name |
cilia and flagella associated protein 221 |
| Synonyms |
Pcdp1, Gm101 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9572 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
119851071-119924964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119873566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 487
(D487V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037840]
[ENSMUST00000174370]
|
| AlphaFold |
A9Q751 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037840
AA Change: D487V
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: D487V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
292 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
771 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174370
AA Change: D487V
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: D487V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
292 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
771 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 78,748,477 (GRCm39) |
S1083P |
probably damaging |
Het |
| Aldh6a1 |
C |
A |
12: 84,487,017 (GRCm39) |
R140L |
probably damaging |
Het |
| Aldoart1 |
T |
A |
4: 72,770,770 (GRCm39) |
M13L |
probably benign |
Het |
| Anapc1 |
G |
T |
2: 128,505,976 (GRCm39) |
T620K |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,204,293 (GRCm39) |
|
probably null |
Het |
| Apol9a |
C |
T |
15: 77,288,804 (GRCm39) |
A188T |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,960,188 (GRCm39) |
K2307E |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 65,299,872 (GRCm39) |
S1292R |
unknown |
Het |
| Asxl3 |
T |
A |
18: 22,649,112 (GRCm39) |
V367D |
probably benign |
Het |
| B3gnt7 |
T |
A |
1: 86,233,492 (GRCm39) |
L246Q |
probably damaging |
Het |
| B4gat1 |
T |
G |
19: 5,089,474 (GRCm39) |
L157R |
probably damaging |
Het |
| Bag4 |
A |
T |
8: 26,258,303 (GRCm39) |
Y341* |
probably null |
Het |
| Bccip |
G |
A |
7: 133,322,478 (GRCm39) |
D275N |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,567,588 (GRCm39) |
F267I |
probably benign |
Het |
| Chpt1 |
T |
C |
10: 88,316,806 (GRCm39) |
I217M |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,377,338 (GRCm39) |
T654A |
probably benign |
Het |
| Ctsr |
A |
G |
13: 61,310,978 (GRCm39) |
S23P |
probably benign |
Het |
| Dst |
T |
A |
1: 34,250,252 (GRCm39) |
Y2055N |
probably damaging |
Het |
| F7 |
A |
T |
8: 13,083,953 (GRCm39) |
I213F |
probably benign |
Het |
| Grb14 |
A |
G |
2: 64,763,680 (GRCm39) |
Y232H |
probably damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,677,301 (GRCm39) |
N190S |
probably benign |
Het |
| Hrnr |
A |
G |
3: 93,239,467 (GRCm39) |
Y3235C |
unknown |
Het |
| Iws1 |
T |
A |
18: 32,203,257 (GRCm39) |
S44R |
probably damaging |
Het |
| Kif26b |
A |
T |
1: 178,745,042 (GRCm39) |
T1713S |
probably benign |
Het |
| Lama4 |
C |
T |
10: 38,959,271 (GRCm39) |
R1230C |
probably damaging |
Het |
| Lrrcc1 |
G |
A |
3: 14,601,148 (GRCm39) |
W60* |
probably null |
Het |
| Mcur1 |
A |
G |
13: 43,713,433 (GRCm39) |
F57S |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,234,334 (GRCm39) |
L4P |
probably benign |
Het |
| Msh5 |
T |
C |
17: 35,250,369 (GRCm39) |
Y548C |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,821 (GRCm39) |
T472A |
probably benign |
Het |
| Nckap5 |
T |
A |
1: 125,955,454 (GRCm39) |
N366I |
probably benign |
Het |
| Nr4a3 |
T |
A |
4: 48,051,258 (GRCm39) |
V4E |
probably damaging |
Het |
| Nuak1 |
C |
A |
10: 84,228,179 (GRCm39) |
V175L |
probably damaging |
Het |
| Or2ag13 |
A |
G |
7: 106,313,546 (GRCm39) |
L114P |
probably damaging |
Het |
| Or5b106 |
T |
A |
19: 13,123,928 (GRCm39) |
I32F |
possibly damaging |
Het |
| Or5w1 |
A |
G |
2: 87,486,914 (GRCm39) |
V117A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,505,627 (GRCm39) |
I37L |
probably benign |
Het |
| Phactr2 |
C |
T |
10: 13,264,561 (GRCm39) |
|
probably benign |
Het |
| Pomk |
T |
C |
8: 26,472,936 (GRCm39) |
D339G |
possibly damaging |
Het |
| Ppp2r5e |
A |
T |
12: 75,562,468 (GRCm39) |
Y88N |
probably benign |
Het |
| Ptma |
T |
A |
1: 86,457,697 (GRCm39) |
V100E |
unknown |
Het |
| Rab3b |
T |
C |
4: 108,786,725 (GRCm39) |
|
probably null |
Het |
| Rp1 |
G |
A |
1: 4,418,662 (GRCm39) |
H817Y |
probably benign |
Het |
| Rpn1 |
T |
A |
6: 88,078,994 (GRCm39) |
I479N |
probably damaging |
Het |
| Sdk1 |
G |
A |
5: 141,595,784 (GRCm39) |
G147R |
probably damaging |
Het |
| Serpina3i |
C |
A |
12: 104,234,743 (GRCm39) |
T358K |
probably damaging |
Het |
| Siglecf |
A |
G |
7: 43,002,058 (GRCm39) |
K231R |
possibly damaging |
Het |
| Skint6 |
C |
T |
4: 112,985,128 (GRCm39) |
V413I |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,614,655 (GRCm39) |
C96R |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,066,095 (GRCm39) |
V1991E |
probably benign |
Het |
| Sstr2 |
A |
G |
11: 113,516,017 (GRCm39) |
Y312C |
probably damaging |
Het |
| Taco1 |
T |
A |
11: 105,963,938 (GRCm39) |
D232E |
possibly damaging |
Het |
| Tcerg1l |
C |
T |
7: 137,881,787 (GRCm39) |
A301T |
probably benign |
Het |
| Tmub2 |
T |
A |
11: 102,176,541 (GRCm39) |
M11K |
|
Het |
| Trpc6 |
T |
A |
9: 8,656,622 (GRCm39) |
V761D |
possibly damaging |
Het |
| Ttll13 |
A |
T |
7: 79,908,008 (GRCm39) |
N510I |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,816,770 (GRCm39) |
N538D |
possibly damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,513 (GRCm39) |
Y75F |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,649,239 (GRCm39) |
I662M |
probably benign |
Het |
| Xkr5 |
A |
G |
8: 18,984,166 (GRCm39) |
S459P |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,349,559 (GRCm39) |
T1644I |
probably damaging |
Het |
|
| Other mutations in Cfap221 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Cfap221
|
APN |
1 |
119,860,575 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00954:Cfap221
|
APN |
1 |
119,861,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01340:Cfap221
|
APN |
1 |
119,881,350 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01413:Cfap221
|
APN |
1 |
119,912,801 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01418:Cfap221
|
APN |
1 |
119,912,801 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01730:Cfap221
|
APN |
1 |
119,861,841 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01931:Cfap221
|
APN |
1 |
119,860,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Cfap221
|
APN |
1 |
119,912,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03309:Cfap221
|
APN |
1 |
119,862,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ningxia
|
UTSW |
1 |
119,881,389 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0365:Cfap221
|
UTSW |
1 |
119,912,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0396:Cfap221
|
UTSW |
1 |
119,881,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1505:Cfap221
|
UTSW |
1 |
119,881,358 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1740:Cfap221
|
UTSW |
1 |
119,873,558 (GRCm39) |
missense |
probably benign |
|
|
R1873:Cfap221
|
UTSW |
1 |
119,881,389 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1875:Cfap221
|
UTSW |
1 |
119,881,389 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2205:Cfap221
|
UTSW |
1 |
119,863,834 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3885:Cfap221
|
UTSW |
1 |
119,881,876 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4290:Cfap221
|
UTSW |
1 |
119,858,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4856:Cfap221
|
UTSW |
1 |
119,912,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4856:Cfap221
|
UTSW |
1 |
119,861,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4886:Cfap221
|
UTSW |
1 |
119,912,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4886:Cfap221
|
UTSW |
1 |
119,861,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4890:Cfap221
|
UTSW |
1 |
119,883,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5623:Cfap221
|
UTSW |
1 |
119,881,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5644:Cfap221
|
UTSW |
1 |
119,860,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5758:Cfap221
|
UTSW |
1 |
119,862,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5959:Cfap221
|
UTSW |
1 |
119,860,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Cfap221
|
UTSW |
1 |
119,912,546 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6186:Cfap221
|
UTSW |
1 |
119,862,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Cfap221
|
UTSW |
1 |
119,860,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Cfap221
|
UTSW |
1 |
119,883,421 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7109:Cfap221
|
UTSW |
1 |
119,853,301 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7166:Cfap221
|
UTSW |
1 |
119,875,843 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7273:Cfap221
|
UTSW |
1 |
119,881,948 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7343:Cfap221
|
UTSW |
1 |
119,922,828 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7486:Cfap221
|
UTSW |
1 |
119,851,322 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7698:Cfap221
|
UTSW |
1 |
119,889,659 (GRCm39) |
nonsense |
probably null |
|
|
R8293:Cfap221
|
UTSW |
1 |
119,909,504 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8389:Cfap221
|
UTSW |
1 |
119,851,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8510:Cfap221
|
UTSW |
1 |
119,917,177 (GRCm39) |
nonsense |
probably null |
|
|
R8849:Cfap221
|
UTSW |
1 |
119,922,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Cfap221
|
UTSW |
1 |
119,863,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Cfap221
|
UTSW |
1 |
119,853,381 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9296:Cfap221
|
UTSW |
1 |
119,883,467 (GRCm39) |
missense |
probably null |
0.01 |
|
R9302:Cfap221
|
UTSW |
1 |
119,853,365 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9402:Cfap221
|
UTSW |
1 |
119,860,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9453:Cfap221
|
UTSW |
1 |
119,853,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9708:Cfap221
|
UTSW |
1 |
119,860,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9725:Cfap221
|
UTSW |
1 |
119,862,352 (GRCm39) |
missense |
probably benign |
0.25 |
|
X0017:Cfap221
|
UTSW |
1 |
119,889,719 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Cfap221
|
UTSW |
1 |
119,922,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cfap221
|
UTSW |
1 |
119,912,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGTTTGTTATCATGGCACCAG -3'
(R):5'- ACACAATTCCGGGAGCACTC -3'
Sequencing Primer
(F):5'- TGTTATCATGGCACCAGGAAAC -3'
(R):5'- GGAGCACTCACAGCTGATCTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation