Incidental Mutation 'R7071:Cfap61'
| ID |
548895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
045167-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 145843832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 306
(I306R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126415]
[ENSMUST00000133433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126415
AA Change: I306R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
AA Change: I306R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
244 |
1e-5 |
SMART |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133433
AA Change: I306R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
AA Change: I306R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4821
|
15 |
272 |
1.1e-96 |
PFAM |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
1172 |
1182 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,449,503 (GRCm39) |
Q854* |
probably null |
Het |
| Arl2bp |
G |
T |
8: 95,393,794 (GRCm39) |
|
probably benign |
Het |
| Astl |
T |
C |
2: 127,187,885 (GRCm39) |
M121T |
probably benign |
Het |
| Atrip |
T |
C |
9: 108,896,082 (GRCm39) |
|
probably null |
Het |
| Camk1g |
A |
T |
1: 193,042,117 (GRCm39) |
V44E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,866,455 (GRCm39) |
H804R |
probably benign |
Het |
| Cd300a |
T |
C |
11: 114,792,099 (GRCm39) |
S314P |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,577 (GRCm39) |
I440L |
possibly damaging |
Het |
| Cnot10 |
T |
C |
9: 114,446,787 (GRCm39) |
|
probably null |
Het |
| Cntln |
T |
A |
4: 85,018,622 (GRCm39) |
L76Q |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,204,795 (GRCm39) |
C636R |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 161,847,412 (GRCm39) |
H148Q |
probably damaging |
Het |
| Dot1l |
T |
A |
10: 80,628,079 (GRCm39) |
L1039Q |
probably benign |
Het |
| Faiml |
T |
A |
9: 99,118,400 (GRCm39) |
M1L |
unknown |
Het |
| Fat1 |
T |
G |
8: 45,442,145 (GRCm39) |
I1149S |
possibly damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm11938 |
A |
T |
11: 99,493,910 (GRCm39) |
C62S |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,292,475 (GRCm39) |
L423S |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,479,853 (GRCm39) |
C4582S |
probably damaging |
Het |
| Ifitm3 |
A |
G |
7: 140,590,437 (GRCm39) |
V41A |
probably benign |
Het |
| Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
| Khsrp |
C |
A |
17: 57,332,386 (GRCm39) |
M268I |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 41,298,276 (GRCm39) |
D1036A |
|
Het |
| Mecom |
T |
G |
3: 30,034,857 (GRCm39) |
H273P |
probably damaging |
Het |
| Mfn1 |
G |
A |
3: 32,622,544 (GRCm39) |
V601I |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
| Myo18a |
A |
G |
11: 77,714,653 (GRCm39) |
T811A |
probably damaging |
Het |
| Ndfip2 |
A |
C |
14: 105,539,760 (GRCm39) |
N292H |
possibly damaging |
Het |
| Or2ak5 |
C |
A |
11: 58,610,984 (GRCm39) |
V297F |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,916,747 (GRCm39) |
C895S |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,824,667 (GRCm39) |
S573P |
unknown |
Het |
| Ptprn |
A |
T |
1: 75,237,263 (GRCm39) |
M113K |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,807 (GRCm39) |
H445R |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,328,659 (GRCm39) |
F2853V |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,636,277 (GRCm39) |
F647Y |
unknown |
Het |
| Stt3b |
T |
C |
9: 115,083,085 (GRCm39) |
Y449C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Zfp451 |
A |
C |
1: 33,815,825 (GRCm39) |
D708E |
possibly damaging |
Het |
| Zfp456 |
T |
C |
13: 67,520,896 (GRCm39) |
E33G |
probably damaging |
Het |
| Zfp599 |
T |
C |
9: 22,169,392 (GRCm39) |
T27A |
probably benign |
Het |
|
| Other mutations in Cfap61 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02838:Cfap61
|
APN |
2 |
145,789,084 (GRCm39) |
nonsense |
probably null |
|
|
IGL03024:Cfap61
|
APN |
2 |
145,781,919 (GRCm39) |
splice site |
probably benign |
|
|
1mM(1):Cfap61
|
UTSW |
2 |
146,042,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0006:Cfap61
|
UTSW |
2 |
145,919,232 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0396:Cfap61
|
UTSW |
2 |
145,791,864 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0458:Cfap61
|
UTSW |
2 |
145,850,837 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0477:Cfap61
|
UTSW |
2 |
145,781,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Cfap61
|
UTSW |
2 |
145,877,215 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1104:Cfap61
|
UTSW |
2 |
145,792,981 (GRCm39) |
nonsense |
probably null |
|
|
R1413:Cfap61
|
UTSW |
2 |
145,805,363 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1591:Cfap61
|
UTSW |
2 |
145,987,378 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1599:Cfap61
|
UTSW |
2 |
145,854,083 (GRCm39) |
missense |
probably benign |
|
|
R1661:Cfap61
|
UTSW |
2 |
145,877,239 (GRCm39) |
splice site |
probably null |
|
|
R1665:Cfap61
|
UTSW |
2 |
145,877,239 (GRCm39) |
splice site |
probably null |
|
|
R1789:Cfap61
|
UTSW |
2 |
145,781,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1800:Cfap61
|
UTSW |
2 |
145,884,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Cfap61
|
UTSW |
2 |
145,987,393 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2202:Cfap61
|
UTSW |
2 |
146,056,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Cfap61
|
UTSW |
2 |
145,878,736 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2444:Cfap61
|
UTSW |
2 |
145,877,239 (GRCm39) |
splice site |
probably null |
|
|
R3779:Cfap61
|
UTSW |
2 |
145,792,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Cfap61
|
UTSW |
2 |
145,985,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4705:Cfap61
|
UTSW |
2 |
145,877,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Cfap61
|
UTSW |
2 |
145,859,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4816:Cfap61
|
UTSW |
2 |
145,985,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5067:Cfap61
|
UTSW |
2 |
145,943,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5120:Cfap61
|
UTSW |
2 |
145,985,080 (GRCm39) |
nonsense |
probably null |
|
|
R5308:Cfap61
|
UTSW |
2 |
145,951,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5575:Cfap61
|
UTSW |
2 |
145,859,313 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5834:Cfap61
|
UTSW |
2 |
145,971,069 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5959:Cfap61
|
UTSW |
2 |
145,789,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6190:Cfap61
|
UTSW |
2 |
145,789,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6283:Cfap61
|
UTSW |
2 |
145,971,022 (GRCm39) |
splice site |
probably null |
|
|
R6786:Cfap61
|
UTSW |
2 |
145,887,363 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6933:Cfap61
|
UTSW |
2 |
145,792,970 (GRCm39) |
splice site |
probably null |
|
|
R7132:Cfap61
|
UTSW |
2 |
145,951,870 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7312:Cfap61
|
UTSW |
2 |
145,887,390 (GRCm39) |
nonsense |
probably null |
|
|
R7390:Cfap61
|
UTSW |
2 |
145,843,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7446:Cfap61
|
UTSW |
2 |
145,995,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7515:Cfap61
|
UTSW |
2 |
145,884,645 (GRCm39) |
missense |
unknown |
|
|
R7608:Cfap61
|
UTSW |
2 |
145,805,451 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7609:Cfap61
|
UTSW |
2 |
145,954,453 (GRCm39) |
missense |
unknown |
|
|
R7780:Cfap61
|
UTSW |
2 |
145,995,692 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7908:Cfap61
|
UTSW |
2 |
145,944,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7938:Cfap61
|
UTSW |
2 |
145,887,376 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8054:Cfap61
|
UTSW |
2 |
145,815,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8153:Cfap61
|
UTSW |
2 |
146,042,704 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8195:Cfap61
|
UTSW |
2 |
145,789,095 (GRCm39) |
missense |
probably benign |
|
|
R8224:Cfap61
|
UTSW |
2 |
145,781,800 (GRCm39) |
missense |
probably benign |
|
|
R8411:Cfap61
|
UTSW |
2 |
145,789,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8702:Cfap61
|
UTSW |
2 |
146,042,710 (GRCm39) |
missense |
probably benign |
|
|
R8936:Cfap61
|
UTSW |
2 |
145,791,879 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9036:Cfap61
|
UTSW |
2 |
145,850,839 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9079:Cfap61
|
UTSW |
2 |
145,781,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9137:Cfap61
|
UTSW |
2 |
146,042,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9184:Cfap61
|
UTSW |
2 |
145,919,308 (GRCm39) |
missense |
probably null |
1.00 |
|
R9423:Cfap61
|
UTSW |
2 |
145,985,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Cfap61
|
UTSW |
2 |
145,971,149 (GRCm39) |
missense |
probably benign |
|
|
R9477:Cfap61
|
UTSW |
2 |
145,985,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9646:Cfap61
|
UTSW |
2 |
145,854,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Cfap61
|
UTSW |
2 |
145,878,758 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Cfap61
|
UTSW |
2 |
145,971,010 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1088:Cfap61
|
UTSW |
2 |
145,971,147 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1177:Cfap61
|
UTSW |
2 |
145,995,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cfap61
|
UTSW |
2 |
145,854,082 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCTGCTTGTCTTTGGAATG -3'
(R):5'- GGATGAAATCCCATTCTGGCC -3'
Sequencing Primer
(F):5'- AATGGACGTCTGCAGTTCCAC -3'
(R):5'- TCCATTCTAGAGCCCATGAGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation