Incidental Mutation 'R4763:Cfap61'
ID |
357011 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap61
|
Ensembl Gene |
ENSMUSG00000037143 |
Gene Name |
cilia and flagella associated protein 61 |
Synonyms |
4930529M08Rik |
MMRRC Submission |
042404-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145859287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 425
(V425A)
|
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: V425A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000118626 Gene: ENSMUSG00000037143 AA Change: V425A
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: V425A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118411 Gene: ENSMUSG00000037143 AA Change: V425A
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
97% (73/75) |
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610303G11Rik |
A |
G |
9: 98,069,176 (GRCm39) |
|
noncoding transcript |
Het |
Abhd2 |
A |
G |
7: 79,009,879 (GRCm39) |
E418G |
probably benign |
Het |
Acox2 |
G |
T |
14: 8,241,334 (GRCm38) |
H593N |
possibly damaging |
Het |
Adam17 |
A |
G |
12: 21,384,016 (GRCm39) |
Y495H |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,929,991 (GRCm39) |
I240T |
probably damaging |
Het |
Atp2c1 |
T |
C |
9: 105,295,766 (GRCm39) |
T653A |
probably damaging |
Het |
Atxn7l1 |
G |
A |
12: 33,408,877 (GRCm39) |
|
probably benign |
Het |
Cacng8 |
T |
C |
7: 3,463,508 (GRCm39) |
V220A |
probably damaging |
Het |
Card14 |
A |
T |
11: 119,234,001 (GRCm39) |
S864C |
probably damaging |
Het |
Cfap58 |
C |
T |
19: 47,971,945 (GRCm39) |
A625V |
probably damaging |
Het |
Cfap73 |
A |
G |
5: 120,768,294 (GRCm39) |
F155L |
probably damaging |
Het |
Cntrl |
G |
T |
2: 35,065,563 (GRCm39) |
R2235L |
probably damaging |
Het |
Cxxc1 |
A |
G |
18: 74,352,484 (GRCm39) |
K355E |
probably damaging |
Het |
Disc1 |
G |
A |
8: 125,851,277 (GRCm39) |
G387D |
probably damaging |
Het |
Dpf2 |
T |
C |
19: 5,952,480 (GRCm39) |
Y286C |
probably damaging |
Het |
E2f7 |
A |
T |
10: 110,616,710 (GRCm39) |
K650M |
probably damaging |
Het |
Fbln2 |
C |
T |
6: 91,246,982 (GRCm39) |
S1027F |
probably damaging |
Het |
Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
Gm6811 |
A |
G |
17: 21,314,109 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2i |
T |
C |
5: 134,284,818 (GRCm39) |
K409E |
probably damaging |
Het |
Hamp |
T |
A |
7: 30,641,989 (GRCm39) |
R55S |
probably damaging |
Het |
Heatr1 |
C |
T |
13: 12,445,811 (GRCm39) |
T1596I |
possibly damaging |
Het |
Hells |
T |
C |
19: 38,945,643 (GRCm39) |
V601A |
probably damaging |
Het |
Ighv5-8 |
A |
G |
12: 113,617,161 (GRCm39) |
S34P |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,022,955 (GRCm39) |
D275G |
probably damaging |
Het |
Meak7 |
A |
G |
8: 120,495,122 (GRCm39) |
V212A |
probably benign |
Het |
Med6 |
T |
C |
12: 81,629,435 (GRCm39) |
D59G |
probably damaging |
Het |
Men1 |
T |
C |
19: 6,385,102 (GRCm39) |
|
probably null |
Het |
Mlec |
G |
A |
5: 115,295,972 (GRCm39) |
A41V |
unknown |
Het |
Ncoa1 |
G |
A |
12: 4,325,297 (GRCm39) |
T927I |
probably damaging |
Het |
Neb |
T |
A |
2: 52,216,732 (GRCm39) |
K148* |
probably null |
Het |
Neb |
T |
A |
2: 52,127,052 (GRCm39) |
K378* |
probably null |
Het |
Or4b13 |
T |
A |
2: 90,082,807 (GRCm39) |
Y175F |
probably damaging |
Het |
Or4k41 |
T |
A |
2: 111,280,023 (GRCm39) |
C179* |
probably null |
Het |
Or5p73 |
G |
A |
7: 108,065,393 (GRCm39) |
M287I |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,096,256 (GRCm39) |
T261A |
probably benign |
Het |
Parp10 |
C |
T |
15: 76,117,627 (GRCm39) |
V920M |
probably damaging |
Het |
Parp6 |
C |
A |
9: 59,538,648 (GRCm39) |
P241H |
probably damaging |
Het |
Pcyox1l |
A |
G |
18: 61,830,850 (GRCm39) |
Y341H |
probably benign |
Het |
Pfas |
A |
T |
11: 68,881,020 (GRCm39) |
D1080E |
possibly damaging |
Het |
Pi4kb |
G |
T |
3: 94,911,720 (GRCm39) |
|
probably benign |
Het |
Piwil2 |
C |
T |
14: 70,614,227 (GRCm39) |
V846M |
probably damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,746,168 (GRCm39) |
F1941L |
probably damaging |
Het |
Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,142,105 (GRCm39) |
I720T |
possibly damaging |
Het |
Prr12 |
A |
G |
7: 44,697,119 (GRCm39) |
L932S |
unknown |
Het |
Rnaseh2a |
T |
A |
8: 85,692,021 (GRCm39) |
E84V |
probably benign |
Het |
Rpl18a |
G |
A |
8: 71,348,330 (GRCm39) |
R118C |
probably benign |
Het |
Rprm |
C |
A |
2: 53,975,228 (GRCm39) |
C30F |
possibly damaging |
Het |
Sbf2 |
G |
T |
7: 110,020,124 (GRCm39) |
L579I |
probably damaging |
Het |
Sfn |
C |
A |
4: 133,328,656 (GRCm39) |
R142L |
probably benign |
Het |
St8sia6 |
T |
C |
2: 13,677,341 (GRCm39) |
K159E |
probably damaging |
Het |
Sugct |
A |
T |
13: 17,837,372 (GRCm39) |
F86L |
probably damaging |
Het |
Tmcc3 |
T |
C |
10: 94,415,173 (GRCm39) |
S292P |
probably damaging |
Het |
Tmem33 |
A |
T |
5: 67,443,479 (GRCm39) |
I219F |
probably benign |
Het |
Trav8-1 |
C |
A |
14: 53,707,492 (GRCm39) |
T44K |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,393,844 (GRCm39) |
|
probably benign |
Het |
Use1 |
T |
C |
8: 71,819,952 (GRCm39) |
L25P |
probably damaging |
Het |
Vmn1r221 |
G |
T |
13: 23,401,958 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r50 |
C |
T |
6: 90,085,062 (GRCm39) |
T269I |
probably benign |
Het |
Washc3 |
A |
G |
10: 88,055,185 (GRCm39) |
D125G |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,615,671 (GRCm39) |
H278Y |
probably damaging |
Het |
Zfp418 |
A |
G |
7: 7,184,444 (GRCm39) |
N136D |
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 |
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 |
|
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'- TGCTCCAATTTGAGTACTTTCTCCTA -3'
(R):5'- CTGGGAGAGAAGAGAGTCTTTCG -3'
Sequencing Primer
(F):5'- AATTTGAGTACTTTCTCCTATGTGC -3'
(R):5'- GTGAGATAGTGTCTTCAAGCCCAC -3'
|
Posted On |
2015-11-11 |