Incidental Mutation 'R7609:Cfap61'
| ID |
588465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
045714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7609 (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 C
at 145954453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 231
(C231R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125223]
[ENSMUST00000133433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000125223
AA Change: C231R
|
| SMART Domains |
Protein: ENSMUSP00000121560
Gene: ENSMUSG00000037143
AA Change: C231R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (69/72) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,896,744 (GRCm39) |
Y288C |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Agl |
C |
A |
3: 116,600,928 (GRCm39) |
R24I |
possibly damaging |
Het |
| Aldoart2 |
A |
G |
12: 55,612,833 (GRCm39) |
T253A |
probably benign |
Het |
| Ankrd39 |
G |
A |
1: 36,578,546 (GRCm39) |
R160W |
probably damaging |
Het |
| Aspscr1 |
C |
T |
11: 120,568,348 (GRCm39) |
T57M |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,792,817 (GRCm39) |
L437S |
probably benign |
Het |
| Bcl9l |
T |
A |
9: 44,417,044 (GRCm39) |
L331Q |
probably damaging |
Het |
| Cdhr4 |
C |
A |
9: 107,874,482 (GRCm39) |
P546T |
probably damaging |
Het |
| Cnih4 |
T |
C |
1: 180,983,467 (GRCm39) |
L61P |
probably damaging |
Het |
| Dtx4 |
A |
G |
19: 12,469,645 (GRCm39) |
Y161H |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Ercc6 |
A |
G |
14: 32,288,318 (GRCm39) |
H830R |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,180,085 (GRCm39) |
N673S |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,850 (GRCm39) |
S114G |
possibly damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,676,310 (GRCm39) |
F76I |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,257,186 (GRCm39) |
D1413G |
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,451,603 (GRCm39) |
C198Y |
probably damaging |
Het |
| Lama3 |
G |
T |
18: 12,664,891 (GRCm39) |
|
probably null |
Het |
| Lce3f |
A |
T |
3: 92,900,403 (GRCm39) |
S75C |
unknown |
Het |
| Ldhal6b |
T |
C |
17: 5,468,266 (GRCm39) |
M223V |
probably benign |
Het |
| Magoh |
T |
C |
4: 107,744,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Mc1r |
A |
T |
8: 124,135,032 (GRCm39) |
I262F |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,010,591 (GRCm39) |
I629T |
probably damaging |
Het |
| Mkrn2os |
A |
G |
6: 115,563,687 (GRCm39) |
V116A |
possibly damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,024,224 (GRCm39) |
D380V |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,415,466 (GRCm39) |
V2804D |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,379,637 (GRCm39) |
V279A |
|
Het |
| Nhlrc2 |
A |
G |
19: 56,583,328 (GRCm39) |
I600V |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,335,356 (GRCm39) |
Q2183R |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,891,125 (GRCm39) |
E7136K |
unknown |
Het |
| Or10ag56 |
T |
C |
2: 87,139,853 (GRCm39) |
V260A |
probably benign |
Het |
| Or5p4 |
T |
A |
7: 107,680,753 (GRCm39) |
F251I |
probably damaging |
Het |
| Or8c9 |
A |
C |
9: 38,241,520 (GRCm39) |
L209F |
possibly damaging |
Het |
| Or8g37 |
C |
T |
9: 39,731,583 (GRCm39) |
T216I |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,230,546 (GRCm39) |
I141T |
possibly damaging |
Het |
| Pde4dip |
C |
A |
3: 97,622,881 (GRCm39) |
V1443F |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,327,382 (GRCm39) |
V193A |
probably benign |
Het |
| Phf3 |
T |
C |
1: 30,844,582 (GRCm39) |
Y1459C |
probably benign |
Het |
| Pias4 |
A |
T |
10: 80,993,860 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,284,852 (GRCm39) |
N159S |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,763,681 (GRCm39) |
D307G |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,990,240 (GRCm39) |
K491E |
probably benign |
Het |
| Rbpjl |
A |
T |
2: 164,247,734 (GRCm39) |
R62S |
probably benign |
Het |
| Rgs11 |
T |
C |
17: 26,426,415 (GRCm39) |
S245P |
probably damaging |
Het |
| Ripor3 |
G |
A |
2: 167,826,490 (GRCm39) |
A685V |
possibly damaging |
Het |
| Rnase9 |
G |
A |
14: 51,276,940 (GRCm39) |
P13S |
possibly damaging |
Het |
| Saxo5 |
A |
T |
8: 3,526,057 (GRCm39) |
H70L |
probably benign |
Het |
| Scin |
C |
T |
12: 40,174,588 (GRCm39) |
C165Y |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 55,932,000 (GRCm39) |
W100R |
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,532 (GRCm39) |
D633G |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,283,545 (GRCm39) |
P446S |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 100,002,911 (GRCm39) |
C1878* |
probably null |
Het |
| Ssc5d |
A |
G |
7: 4,930,575 (GRCm39) |
E129G |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,117,777 (GRCm39) |
N480D |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,388,406 (GRCm39) |
L590S |
probably damaging |
Het |
| Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,912,728 (GRCm39) |
S109P |
unknown |
Het |
| Tsga10 |
A |
T |
1: 37,843,974 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,626,107 (GRCm39) |
L14984* |
probably null |
Het |
| Tyr |
T |
C |
7: 87,133,092 (GRCm39) |
T325A |
probably benign |
Het |
| U2surp |
A |
T |
9: 95,367,732 (GRCm39) |
|
probably null |
Het |
| Uba6 |
C |
A |
5: 86,294,934 (GRCm39) |
K368N |
probably benign |
Het |
| Upb1 |
A |
G |
10: 75,272,035 (GRCm39) |
T283A |
probably benign |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,455 (GRCm39) |
Y137H |
probably damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,023,748 (GRCm39) |
K541R |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,800,741 (GRCm39) |
I624T |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 6,820,066 (GRCm39) |
D999V |
possibly damaging |
Het |
| Zmym4 |
T |
A |
4: 126,819,588 (GRCm39) |
H105L |
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 |
|
|
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 |
|
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'- CGACTTCTCATGTGTGAAAGCG -3'
(R):5'- ATACCGCCAGTTGTTCAGG -3'
Sequencing Primer
(F):5'- TTCTCATGTGTGAAAGCGTAAGAAAG -3'
(R):5'- ATACCGCCAGTTGTTCAGGATTTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation