Incidental Mutation 'R8936:Cfap61'
| ID |
680615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
068779-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8936 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145791879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 112
(D112G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116398]
[ENSMUST00000118002]
[ENSMUST00000126415]
[ENSMUST00000130168]
[ENSMUST00000133433]
[ENSMUST00000138774]
[ENSMUST00000152515]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116398
AA Change: D112G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112099
Gene: ENSMUSG00000037143
AA Change: D112G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
237 |
1e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118002
AA Change: D112G
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113529
Gene: ENSMUSG00000037143
AA Change: D112G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126415
AA Change: D112G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
AA Change: D112G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
244 |
1e-5 |
SMART |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130168
AA Change: D112G
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121294
Gene: ENSMUSG00000037143
AA Change: D112G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133433
AA Change: D112G
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
AA Change: D112G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138774
|
| SMART Domains |
Protein: ENSMUSP00000120838
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
SCOP:d1b87a_
|
99 |
153 |
2e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152515
AA Change: D112G
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,797,101 (GRCm39) |
K491E |
probably benign |
Het |
| Abcd3 |
T |
C |
3: 121,569,117 (GRCm39) |
I374V |
probably benign |
Het |
| Adam34 |
G |
A |
8: 44,104,439 (GRCm39) |
T402I |
probably benign |
Het |
| Angptl7 |
G |
T |
4: 148,581,790 (GRCm39) |
H199N |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,621,840 (GRCm39) |
C671R |
possibly damaging |
Het |
| Anxa7 |
G |
A |
14: 20,521,495 (GRCm39) |
P67L |
unknown |
Het |
| Ap3d1 |
T |
A |
10: 80,547,952 (GRCm39) |
Q913H |
probably benign |
Het |
| Arhgef37 |
A |
G |
18: 61,656,948 (GRCm39) |
I39T |
probably damaging |
Het |
| Armh4 |
G |
A |
14: 50,008,024 (GRCm39) |
T483I |
probably damaging |
Het |
| C3ar1 |
T |
A |
6: 122,828,044 (GRCm39) |
T58S |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,332 (GRCm39) |
L334Q |
probably damaging |
Het |
| Ccr1 |
A |
T |
9: 123,763,882 (GRCm39) |
I216K |
probably damaging |
Het |
| Cdh9 |
T |
A |
15: 16,831,162 (GRCm39) |
|
probably null |
Het |
| Cept1 |
A |
G |
3: 106,411,921 (GRCm39) |
F351S |
possibly damaging |
Het |
| Cul9 |
T |
A |
17: 46,839,528 (GRCm39) |
S817C |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,303,195 (GRCm39) |
S1570P |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,754 (GRCm39) |
D206G |
probably damaging |
Het |
| Dock5 |
T |
A |
14: 68,083,439 (GRCm39) |
R157* |
probably null |
Het |
| Dpp6 |
A |
G |
5: 27,926,140 (GRCm39) |
D738G |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,125,884 (GRCm39) |
F83L |
possibly damaging |
Het |
| F10 |
G |
T |
8: 13,095,086 (GRCm39) |
W81L |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,095,147 (GRCm39) |
D356G |
probably damaging |
Het |
| Fes |
T |
C |
7: 80,031,473 (GRCm39) |
E467G |
probably damaging |
Het |
| Fignl2 |
A |
T |
15: 100,951,339 (GRCm39) |
D314E |
unknown |
Het |
| Foxh1 |
T |
C |
15: 76,552,719 (GRCm39) |
|
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,109,199 (GRCm39) |
L573P |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,523,469 (GRCm39) |
S934T |
probably damaging |
Het |
| Gm7356 |
C |
T |
17: 14,221,937 (GRCm39) |
V31I |
probably benign |
Het |
| Hoatz |
A |
G |
9: 51,011,298 (GRCm39) |
|
probably null |
Het |
| Hoxa2 |
C |
A |
6: 52,140,517 (GRCm39) |
K156N |
probably damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,857 (GRCm39) |
|
probably benign |
Het |
| Il5ra |
A |
T |
6: 106,692,604 (GRCm39) |
D380E |
possibly damaging |
Het |
| Ino80c |
C |
A |
18: 24,254,865 (GRCm39) |
|
probably benign |
Het |
| Kif18a |
T |
A |
2: 109,163,966 (GRCm39) |
W772R |
probably benign |
Het |
| Lipo3 |
G |
T |
19: 33,557,880 (GRCm39) |
Q171K |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,794,709 (GRCm39) |
T2798S |
probably damaging |
Het |
| Msantd5l |
A |
G |
11: 51,145,249 (GRCm39) |
S113P |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,394,437 (GRCm39) |
T297S |
probably benign |
Het |
| Myh7 |
T |
G |
14: 55,228,440 (GRCm39) |
Q222P |
probably benign |
Het |
| N4bp2l2 |
T |
C |
5: 150,585,362 (GRCm39) |
D206G |
probably benign |
Het |
| Nacc2 |
G |
C |
2: 25,952,216 (GRCm39) |
T380S |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,060,307 (GRCm39) |
|
probably benign |
Het |
| Nkpd1 |
T |
A |
7: 19,255,875 (GRCm39) |
D186E |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,466,863 (GRCm39) |
E581V |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,693,366 (GRCm39) |
N255K |
possibly damaging |
Het |
| Nudt5 |
T |
G |
2: 5,869,228 (GRCm39) |
D151E |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,892,858 (GRCm39) |
L6796Q |
probably benign |
Het |
| Or10p21 |
C |
T |
10: 128,847,802 (GRCm39) |
A216V |
probably benign |
Het |
| Or4k2 |
A |
G |
14: 50,423,999 (GRCm39) |
I225T |
possibly damaging |
Het |
| Oxct2b |
A |
G |
4: 123,010,838 (GRCm39) |
T253A |
probably benign |
Het |
| Patl1 |
G |
A |
19: 11,891,725 (GRCm39) |
C10Y |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,310,427 (GRCm39) |
R1905G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,402,312 (GRCm39) |
E2228G |
possibly damaging |
Het |
| Plcg1 |
A |
G |
2: 160,589,986 (GRCm39) |
K135E |
probably benign |
Het |
| Proz |
A |
G |
8: 13,115,319 (GRCm39) |
T112A |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,099,199 (GRCm39) |
N1568D |
probably benign |
Het |
| Rbm4 |
A |
G |
19: 4,837,539 (GRCm39) |
V431A |
probably benign |
Het |
| Rgs19 |
G |
T |
2: 181,333,058 (GRCm39) |
C40* |
probably null |
Het |
| Rimbp3 |
T |
A |
16: 17,030,884 (GRCm39) |
I1436K |
probably benign |
Het |
| Rnps1 |
T |
A |
17: 24,641,176 (GRCm39) |
M192K |
probably damaging |
Het |
| Rrad |
C |
T |
8: 105,355,222 (GRCm39) |
R262Q |
possibly damaging |
Het |
| Slc17a9 |
G |
A |
2: 180,380,210 (GRCm39) |
V318I |
probably benign |
Het |
| Slc5a12 |
A |
G |
2: 110,467,455 (GRCm39) |
I412V |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,925,491 (GRCm39) |
N329K |
probably benign |
Het |
| St3gal4 |
G |
A |
9: 34,964,723 (GRCm39) |
R165W |
probably damaging |
Het |
| Strbp |
G |
A |
2: 37,493,949 (GRCm39) |
R375* |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,228,367 (GRCm39) |
N1684S |
possibly damaging |
Het |
| Tet1 |
A |
T |
10: 62,676,063 (GRCm39) |
L671* |
probably null |
Het |
| Tex2 |
C |
A |
11: 106,458,144 (GRCm39) |
E429* |
probably null |
Het |
| Tgm4 |
T |
C |
9: 122,869,541 (GRCm39) |
I40T |
possibly damaging |
Het |
| Tmem132d |
C |
T |
5: 127,869,676 (GRCm39) |
D553N |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,320,501 (GRCm39) |
Y723* |
probably null |
Het |
| Tnks1bp1 |
A |
T |
2: 84,894,320 (GRCm39) |
T1416S |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,904,646 (GRCm39) |
L1137Q |
probably damaging |
Het |
| Tor4a |
A |
C |
2: 25,085,202 (GRCm39) |
C68G |
probably damaging |
Het |
| Tubb2b |
A |
C |
13: 34,312,445 (GRCm39) |
V116G |
probably damaging |
Het |
| Upb1 |
T |
A |
10: 75,250,827 (GRCm39) |
S99T |
probably benign |
Het |
| Vmn1r31 |
T |
A |
6: 58,449,083 (GRCm39) |
I261F |
unknown |
Het |
| Vmn1r53 |
T |
C |
6: 90,200,571 (GRCm39) |
Y251C |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,981 (GRCm39) |
R221G |
|
Het |
| Vmn2r88 |
A |
T |
14: 51,655,983 (GRCm39) |
I740F |
possibly damaging |
Het |
| Zfp644 |
C |
T |
5: 106,783,503 (GRCm39) |
G1015R |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 738,726 (GRCm39) |
D160G |
unknown |
Het |
| Zscan25 |
T |
A |
5: 145,223,200 (GRCm39) |
V156E |
probably damaging |
Het |
| Zyg11b |
A |
T |
4: 108,109,356 (GRCm39) |
F443I |
|
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 |
|
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 |
|
|
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'- CAGACTGCTTTCTGGGTGTC -3'
(R):5'- AACTACCTGTTGGCCTCAGAG -3'
Sequencing Primer
(F):5'- CTTGTCATTTTGCTGTAAGCTGTCAC -3'
(R):5'- CCTCAGAGGGTAGCAATTTAAAATG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation