Incidental Mutation 'R7908:Cfap61'
| ID |
610255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7908 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145944019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 762
(L762H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125223]
[ENSMUST00000133433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125223
AA Change: L155H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121560
Gene: ENSMUSG00000037143
AA Change: L155H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133433
AA Change: L762H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
AA Change: L762H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
A |
G |
15: 83,112,577 (GRCm39) |
F69L |
probably benign |
Het |
| Acsf3 |
A |
G |
8: 123,512,562 (GRCm39) |
M328V |
probably damaging |
Het |
| Adam10 |
T |
G |
9: 70,669,046 (GRCm39) |
V454G |
possibly damaging |
Het |
| Adamts15 |
T |
C |
9: 30,813,522 (GRCm39) |
D881G |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,274,676 (GRCm39) |
V1244A |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,296,360 (GRCm39) |
P123L |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,145,227 (GRCm39) |
I1331T |
possibly damaging |
Het |
| Atg14 |
T |
A |
14: 47,806,050 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,912,680 (GRCm39) |
I579L |
probably benign |
Het |
| Btnl4 |
A |
G |
17: 34,692,161 (GRCm39) |
M147T |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,042,082 (GRCm39) |
K56E |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,088,202 (GRCm39) |
|
probably null |
Het |
| Cbln1 |
T |
A |
8: 88,198,724 (GRCm39) |
T49S |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,864,188 (GRCm39) |
V763A |
probably benign |
Het |
| Cdc40 |
A |
G |
10: 40,724,042 (GRCm39) |
Y249H |
probably damaging |
Het |
| Cfap68 |
T |
A |
9: 50,675,248 (GRCm39) |
T153S |
possibly damaging |
Het |
| Cfap73 |
T |
C |
5: 120,768,123 (GRCm39) |
T212A |
probably benign |
Het |
| Cfi |
A |
G |
3: 129,642,233 (GRCm39) |
E29G |
probably benign |
Het |
| Chmp6 |
A |
T |
11: 119,804,656 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,314,465 (GRCm39) |
T386A |
possibly damaging |
Het |
| Coq6 |
T |
A |
12: 84,417,940 (GRCm39) |
L268H |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,412,202 (GRCm39) |
S225P |
probably benign |
Het |
| Dhx58 |
C |
A |
11: 100,586,130 (GRCm39) |
L630F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,549,981 (GRCm39) |
V158E |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,846,921 (GRCm39) |
Y1168F |
probably benign |
Het |
| Foxd3 |
A |
G |
4: 99,545,576 (GRCm39) |
T239A |
probably benign |
Het |
| Galnt6 |
T |
C |
15: 100,601,242 (GRCm39) |
T346A |
probably damaging |
Het |
| Guca1b |
C |
G |
17: 47,702,102 (GRCm39) |
T185S |
unknown |
Het |
| H2-M5 |
T |
C |
17: 37,298,571 (GRCm39) |
T292A |
probably benign |
Het |
| Hlx |
T |
C |
1: 184,459,773 (GRCm39) |
H455R |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,237,499 (GRCm39) |
Y1924C |
probably benign |
Het |
| Ighg2b |
C |
T |
12: 113,270,074 (GRCm39) |
V315M |
|
Het |
| Ildr2 |
A |
G |
1: 166,135,369 (GRCm39) |
K374E |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,061,621 (GRCm39) |
S1144P |
probably benign |
Het |
| Kcnj8 |
T |
C |
6: 142,511,755 (GRCm39) |
D284G |
probably benign |
Het |
| Kri1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTCCTCCTC |
9: 21,192,352 (GRCm39) |
|
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,541 (GRCm39) |
T160A |
probably benign |
Het |
| Lmod3 |
G |
T |
6: 97,225,434 (GRCm39) |
A129E |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,610,355 (GRCm39) |
C696R |
probably damaging |
Het |
| Mc2r |
A |
G |
18: 68,541,036 (GRCm39) |
F86L |
probably benign |
Het |
| Mppe1 |
T |
G |
18: 67,362,055 (GRCm39) |
K170T |
probably benign |
Het |
| Mtcl1 |
A |
G |
17: 66,678,325 (GRCm39) |
I667T |
possibly damaging |
Het |
| Mtnr1a |
A |
T |
8: 45,540,863 (GRCm39) |
I275F |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,088,197 (GRCm39) |
I1938V |
probably benign |
Het |
| Npsr1 |
A |
T |
9: 24,201,096 (GRCm39) |
E160V |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,821,086 (GRCm39) |
I92F |
probably damaging |
Het |
| Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
| Or6c3 |
T |
A |
10: 129,308,867 (GRCm39) |
I102N |
probably damaging |
Het |
| Ovch2 |
T |
A |
7: 107,388,326 (GRCm39) |
Y418F |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,958,479 (GRCm39) |
L203S |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,414 (GRCm39) |
E508D |
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,826,433 (GRCm39) |
M1V |
probably null |
Het |
| Prorp |
A |
T |
12: 55,426,250 (GRCm39) |
K533N |
possibly damaging |
Het |
| Prpsap2 |
G |
T |
11: 61,647,098 (GRCm39) |
N14K |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,595,868 (GRCm39) |
V215E |
probably null |
Het |
| Ryr2 |
G |
A |
13: 11,807,634 (GRCm39) |
T845I |
probably benign |
Het |
| Scgb2b3 |
G |
A |
7: 31,061,439 (GRCm39) |
T20I |
probably damaging |
Het |
| Serpina1b |
T |
C |
12: 103,694,566 (GRCm39) |
I393V |
possibly damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,149,890 (GRCm39) |
M207V |
probably benign |
Het |
| Slc49a3 |
T |
C |
5: 108,592,363 (GRCm39) |
I276V |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,785,357 (GRCm39) |
L843M |
unknown |
Het |
| Sp100 |
T |
C |
1: 85,635,788 (GRCm39) |
V531A |
possibly damaging |
Het |
| Srsf6 |
T |
C |
2: 162,775,760 (GRCm39) |
S190P |
unknown |
Het |
| Stil |
A |
G |
4: 114,889,896 (GRCm39) |
K795E |
possibly damaging |
Het |
| Sugp2 |
A |
G |
8: 70,704,577 (GRCm39) |
R705G |
probably benign |
Het |
| Tnfrsf11a |
T |
A |
1: 105,737,099 (GRCm39) |
C69S |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,070,656 (GRCm39) |
N252K |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,032,732 (GRCm39) |
K559* |
probably null |
Het |
| Ttbk1 |
C |
T |
17: 46,789,864 (GRCm39) |
R133H |
probably damaging |
Het |
| Vmn1r1 |
T |
C |
1: 181,984,915 (GRCm39) |
Y250C |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,307 (GRCm39) |
L635P |
probably damaging |
Het |
| Vmn2r52 |
C |
A |
7: 9,896,877 (GRCm39) |
V532L |
probably benign |
Het |
| Vwa5b1 |
A |
T |
4: 138,296,481 (GRCm39) |
L1182* |
probably null |
Het |
| Washc2 |
A |
G |
6: 116,225,106 (GRCm39) |
D818G |
probably benign |
Het |
| Xylb |
T |
G |
9: 119,210,611 (GRCm39) |
S365A |
probably benign |
Het |
| Zcchc8 |
T |
C |
5: 123,858,783 (GRCm39) |
|
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,345,986 (GRCm39) |
I1455T |
possibly damaging |
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 |
|
|
R7071:Cfap61
|
UTSW |
2 |
145,843,832 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- TCAGCTGCTCAAATGTCACTG -3'
(R):5'- AGGGTTTGCAGACATTCTGG -3'
Sequencing Primer
(F):5'- AAATGTCACTGACGGGGCTTCTC -3'
(R):5'- AGGCCTTGAAGAGCACTTTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation