Incidental Mutation 'R5959:Cfap61'
| ID |
471330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
044146-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 145789053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 19
(T19M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116398]
[ENSMUST00000118002]
[ENSMUST00000126415]
[ENSMUST00000130168]
[ENSMUST00000133433]
[ENSMUST00000138774]
[ENSMUST00000152515]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
silent
Transcript: ENSMUST00000116398
|
| SMART Domains |
Protein: ENSMUSP00000112099
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
237 |
1e-3 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000118002
|
| SMART Domains |
Protein: ENSMUSP00000113529
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000126415
|
| SMART Domains |
Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
244 |
1e-5 |
SMART |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000130168
|
| SMART Domains |
Protein: ENSMUSP00000121294
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000133433
|
| SMART Domains |
Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
| 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
AA Change: T19M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120838
Gene: ENSMUSG00000037143
AA Change: T19M
| 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 |
silent
Transcript: ENSMUST00000152515
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
T |
11: 84,106,792 (GRCm39) |
N164Y |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,073,888 (GRCm39) |
E164G |
probably damaging |
Het |
| Adcy5 |
A |
T |
16: 35,118,780 (GRCm39) |
I1044F |
probably damaging |
Het |
| Ahcyl2 |
A |
G |
6: 29,886,173 (GRCm39) |
D363G |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,451,879 (GRCm39) |
T273A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,860,132 (GRCm39) |
Y862* |
probably null |
Het |
| Cfap221 |
T |
A |
1: 119,860,511 (GRCm39) |
H705L |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,114 (GRCm39) |
S202P |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,894,109 (GRCm39) |
I93V |
probably damaging |
Het |
| Cpne1 |
G |
A |
2: 155,920,143 (GRCm39) |
S188L |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,232,725 (GRCm39) |
V2237I |
probably benign |
Het |
| Dguok |
C |
T |
6: 83,467,574 (GRCm39) |
R91H |
probably benign |
Het |
| Eed |
A |
G |
7: 89,618,835 (GRCm39) |
I193T |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,699,390 (GRCm39) |
E2353K |
probably damaging |
Het |
| Fpr-rs7 |
G |
A |
17: 20,334,011 (GRCm39) |
H160Y |
probably benign |
Het |
| Gramd4 |
T |
A |
15: 86,011,758 (GRCm39) |
M272K |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,783 (GRCm39) |
S940P |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,652 (GRCm39) |
S363T |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,134,715 (GRCm39) |
N481D |
probably damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,330 (GRCm39) |
K40E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Lpcat4 |
T |
A |
2: 112,070,380 (GRCm39) |
L31H |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,548,345 (GRCm39) |
T38A |
probably benign |
Het |
| Myt1l |
T |
C |
12: 29,970,039 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,338,802 (GRCm39) |
V214A |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,046,389 (GRCm39) |
R6537L |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,965,413 (GRCm39) |
F1666I |
probably benign |
Het |
| Or52z1 |
T |
A |
7: 103,436,723 (GRCm39) |
I254F |
probably damaging |
Het |
| Or8b1 |
A |
G |
9: 38,400,207 (GRCm39) |
N294S |
probably damaging |
Het |
| Prmt8 |
C |
A |
6: 127,706,381 (GRCm39) |
V137L |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,675,148 (GRCm39) |
|
probably null |
Het |
| Rab15 |
A |
G |
12: 76,869,043 (GRCm39) |
S17P |
probably damaging |
Het |
| Rbm5 |
T |
G |
9: 107,629,339 (GRCm39) |
I338L |
probably benign |
Het |
| Rragc |
G |
A |
4: 123,817,767 (GRCm39) |
S218N |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,449,849 (GRCm39) |
M3965T |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,380,322 (GRCm39) |
I837F |
probably benign |
Het |
| Sorcs3 |
T |
G |
19: 48,737,835 (GRCm39) |
C751G |
probably damaging |
Het |
| Sowahc |
A |
G |
10: 59,058,920 (GRCm39) |
D352G |
probably benign |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Spata31f1e |
T |
A |
4: 42,793,492 (GRCm39) |
K213N |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,801,891 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 49,099,482 (GRCm39) |
R108* |
probably null |
Het |
| Traf3ip2 |
A |
T |
10: 39,517,337 (GRCm39) |
M403L |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,954,593 (GRCm39) |
D949G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,960 (GRCm39) |
I32714T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,693,849 (GRCm39) |
T218S |
possibly damaging |
Het |
| Uaca |
A |
T |
9: 60,778,052 (GRCm39) |
H811L |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,813 (GRCm39) |
E182G |
probably benign |
Het |
| Vmn1r49 |
T |
C |
6: 90,049,786 (GRCm39) |
D72G |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,005,313 (GRCm39) |
M317L |
probably benign |
Het |
| Vwa2 |
T |
C |
19: 56,869,604 (GRCm39) |
L13P |
possibly damaging |
Het |
| Zc3hav1 |
G |
A |
6: 38,284,379 (GRCm39) |
T912I |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,776 (GRCm39) |
K323E |
probably benign |
Het |
| Zfyve27 |
T |
G |
19: 42,167,887 (GRCm39) |
V143G |
unknown |
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 |
|
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'- AGCACAGCCTAACTTTCAGC -3'
(R):5'- TGCATCAGTTGGGGTTCTCAAC -3'
Sequencing Primer
(F):5'- TAATGGGCAGCAGCAGGTCC -3'
(R):5'- GGTTCTCAACCCAGAAACTGACTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation