Incidental Mutation 'R8957:Cfap74'
| ID |
682085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
068793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 155521187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 620
(E620K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151083]
|
| AlphaFold |
Q3UY96 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: E620K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
134 |
162 |
N/A |
INTRINSIC |
|
coiled coil region
|
333 |
378 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
A |
G |
5: 114,951,891 (GRCm39) |
V28A |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,360,784 (GRCm39) |
D503V |
possibly damaging |
Het |
| Aco2 |
A |
T |
15: 81,773,701 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,981,634 (GRCm39) |
Q591R |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,379,121 (GRCm39) |
A7T |
possibly damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,291,491 (GRCm39) |
N1314S |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,969,572 (GRCm39) |
M216K |
probably benign |
Het |
| Armh1 |
T |
C |
4: 117,087,104 (GRCm39) |
Y187C |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,576,208 (GRCm39) |
A821E |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,543,701 (GRCm39) |
D650G |
probably null |
Het |
| Cav1 |
T |
A |
6: 17,339,235 (GRCm39) |
F107I |
probably benign |
Het |
| Ccdc146 |
A |
G |
5: 21,514,585 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
A |
G |
11: 120,776,861 (GRCm39) |
I513T |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 110,884,557 (GRCm39) |
R314G |
probably benign |
Het |
| Cd1d1 |
T |
C |
3: 86,906,140 (GRCm39) |
D45G |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,295,906 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
C |
T |
5: 121,999,011 (GRCm39) |
G1310R |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,432,410 (GRCm39) |
R136L |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,189,573 (GRCm39) |
V1646M |
|
Het |
| Des |
A |
T |
1: 75,340,295 (GRCm39) |
I401F |
probably damaging |
Het |
| Dis3 |
T |
C |
14: 99,337,027 (GRCm39) |
D28G |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,953,950 (GRCm39) |
D83G |
probably damaging |
Het |
| Ehd1 |
A |
G |
19: 6,344,439 (GRCm39) |
Y233C |
probably damaging |
Het |
| Fcrlb |
G |
A |
1: 170,735,536 (GRCm39) |
A246V |
probably benign |
Het |
| Firrm |
C |
T |
1: 163,792,335 (GRCm39) |
R554H |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,489,541 (GRCm39) |
R357G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,575,354 (GRCm39) |
D420G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,873,757 (GRCm39) |
|
probably null |
Het |
| Hdhd5 |
C |
T |
6: 120,495,404 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
G |
A |
13: 95,772,154 (GRCm39) |
R1342C |
probably damaging |
Het |
| Isyna1 |
T |
G |
8: 71,049,372 (GRCm39) |
L428R |
probably damaging |
Het |
| Jmjd4 |
C |
T |
11: 59,340,884 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
G |
6: 130,357,609 (GRCm39) |
V6A |
possibly damaging |
Het |
| Klrb1b |
T |
A |
6: 128,795,522 (GRCm39) |
K124N |
probably benign |
Het |
| Krtap19-3 |
T |
C |
16: 88,674,833 (GRCm39) |
|
probably benign |
Het |
| Lrrc74b |
T |
C |
16: 17,378,976 (GRCm39) |
T34A |
probably benign |
Het |
| Map9 |
A |
G |
3: 82,278,687 (GRCm39) |
Y229C |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,334,636 (GRCm39) |
I373V |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,251,216 (GRCm39) |
Y1086* |
probably null |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,780 (GRCm39) |
K880E |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,220,964 (GRCm39) |
V1656G |
probably damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,382 (GRCm39) |
V247A |
probably damaging |
Het |
| Or1a1 |
T |
A |
11: 74,086,772 (GRCm39) |
S148T |
probably damaging |
Het |
| Or5b101 |
T |
A |
19: 13,004,881 (GRCm39) |
I271F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,596,911 (GRCm39) |
W100R |
probably benign |
Het |
| Pcdhb11 |
A |
C |
18: 37,554,692 (GRCm39) |
K7N |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,872 (GRCm39) |
T401A |
probably benign |
Het |
| Pgam1 |
T |
A |
19: 41,905,215 (GRCm39) |
I183N |
possibly damaging |
Het |
| Pou5f1 |
T |
G |
17: 35,821,366 (GRCm39) |
L326R |
possibly damaging |
Het |
| Rbm34 |
A |
C |
8: 127,692,208 (GRCm39) |
V178G |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,289,660 (GRCm39) |
V384A |
possibly damaging |
Het |
| Sec62 |
T |
A |
3: 30,864,671 (GRCm39) |
F178L |
unknown |
Het |
| Slco1a6 |
T |
C |
6: 142,091,493 (GRCm39) |
N69S |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,453,873 (GRCm39) |
L11Q |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,113 (GRCm39) |
S255P |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,124,908 (GRCm39) |
Y2701H |
probably benign |
Het |
| Tesk2 |
T |
A |
4: 116,659,910 (GRCm39) |
F343I |
probably benign |
Het |
| Tmem106c |
A |
T |
15: 97,867,481 (GRCm39) |
I222F |
probably benign |
Het |
| Tmub1 |
G |
T |
5: 24,651,775 (GRCm39) |
T63K |
probably benign |
Het |
| Tnip3 |
A |
G |
6: 65,582,843 (GRCm39) |
T217A |
probably benign |
Het |
| Vmn2r10 |
T |
G |
5: 109,149,780 (GRCm39) |
K421N |
possibly damaging |
Het |
| Zfp975 |
A |
T |
7: 42,311,157 (GRCm39) |
H485Q |
probably damaging |
Het |
|
| Other mutations in Cfap74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01607:Cfap74
|
APN |
4 |
155,503,443 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
paranoid
|
UTSW |
4 |
155,538,481 (GRCm39) |
utr 5 prime |
probably benign |
|
|
sensibile
|
UTSW |
4 |
155,525,743 (GRCm39) |
missense |
probably null |
0.03 |
|
touchy
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
|
FR4304:Cfap74
|
UTSW |
4 |
155,500,217 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
P0007:Cfap74
|
UTSW |
4 |
155,506,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
PIT4434001:Cfap74
|
UTSW |
4 |
155,548,421 (GRCm39) |
missense |
unknown |
|
|
R0025:Cfap74
|
UTSW |
4 |
155,510,572 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0034:Cfap74
|
UTSW |
4 |
155,545,344 (GRCm39) |
splice site |
probably benign |
|
|
R0193:Cfap74
|
UTSW |
4 |
155,510,572 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0306:Cfap74
|
UTSW |
4 |
155,549,896 (GRCm39) |
unclassified |
probably benign |
|
|
R0427:Cfap74
|
UTSW |
4 |
155,525,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0905:Cfap74
|
UTSW |
4 |
155,503,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1116:Cfap74
|
UTSW |
4 |
155,518,453 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1548:Cfap74
|
UTSW |
4 |
155,518,502 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1950:Cfap74
|
UTSW |
4 |
155,511,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2009:Cfap74
|
UTSW |
4 |
155,504,724 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2029:Cfap74
|
UTSW |
4 |
155,526,538 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2135:Cfap74
|
UTSW |
4 |
155,514,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Cfap74
|
UTSW |
4 |
155,514,397 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2154:Cfap74
|
UTSW |
4 |
155,513,753 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2413:Cfap74
|
UTSW |
4 |
155,503,081 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2418:Cfap74
|
UTSW |
4 |
155,540,166 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2930:Cfap74
|
UTSW |
4 |
155,522,627 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3965:Cfap74
|
UTSW |
4 |
155,531,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Cfap74
|
UTSW |
4 |
155,540,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4238:Cfap74
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4239:Cfap74
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4240:Cfap74
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4491:Cfap74
|
UTSW |
4 |
155,513,628 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4731:Cfap74
|
UTSW |
4 |
155,548,059 (GRCm39) |
intron |
probably benign |
|
|
R5333:Cfap74
|
UTSW |
4 |
155,521,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5362:Cfap74
|
UTSW |
4 |
155,522,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5425:Cfap74
|
UTSW |
4 |
155,540,149 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5468:Cfap74
|
UTSW |
4 |
155,510,498 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5839:Cfap74
|
UTSW |
4 |
155,507,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6010:Cfap74
|
UTSW |
4 |
155,538,495 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6284:Cfap74
|
UTSW |
4 |
155,536,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6323:Cfap74
|
UTSW |
4 |
155,548,395 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6389:Cfap74
|
UTSW |
4 |
155,507,793 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6513:Cfap74
|
UTSW |
4 |
155,525,743 (GRCm39) |
missense |
probably null |
0.03 |
|
R6527:Cfap74
|
UTSW |
4 |
155,506,722 (GRCm39) |
splice site |
probably null |
|
|
R6785:Cfap74
|
UTSW |
4 |
155,538,481 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6980:Cfap74
|
UTSW |
4 |
155,550,809 (GRCm39) |
unclassified |
probably benign |
|
|
R7039:Cfap74
|
UTSW |
4 |
155,538,565 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7077:Cfap74
|
UTSW |
4 |
155,540,134 (GRCm39) |
missense |
unknown |
|
|
R7116:Cfap74
|
UTSW |
4 |
155,539,518 (GRCm39) |
missense |
unknown |
|
|
R7202:Cfap74
|
UTSW |
4 |
155,510,654 (GRCm39) |
splice site |
probably null |
|
|
R7227:Cfap74
|
UTSW |
4 |
155,545,405 (GRCm39) |
nonsense |
probably null |
|
|
R7228:Cfap74
|
UTSW |
4 |
155,549,507 (GRCm39) |
missense |
unknown |
|
|
R7261:Cfap74
|
UTSW |
4 |
155,549,831 (GRCm39) |
missense |
unknown |
|
|
R7315:Cfap74
|
UTSW |
4 |
155,547,476 (GRCm39) |
missense |
unknown |
|
|
R7337:Cfap74
|
UTSW |
4 |
155,544,472 (GRCm39) |
missense |
unknown |
|
|
R7354:Cfap74
|
UTSW |
4 |
155,549,804 (GRCm39) |
missense |
unknown |
|
|
R7533:Cfap74
|
UTSW |
4 |
155,500,200 (GRCm39) |
missense |
|
|
|
R7673:Cfap74
|
UTSW |
4 |
155,547,513 (GRCm39) |
missense |
unknown |
|
|
R7798:Cfap74
|
UTSW |
4 |
155,507,079 (GRCm39) |
missense |
|
|
|
R7829:Cfap74
|
UTSW |
4 |
155,513,694 (GRCm39) |
missense |
|
|
|
R7897:Cfap74
|
UTSW |
4 |
155,514,351 (GRCm39) |
missense |
|
|
|
R8099:Cfap74
|
UTSW |
4 |
155,539,489 (GRCm39) |
missense |
unknown |
|
|
R8126:Cfap74
|
UTSW |
4 |
155,511,831 (GRCm39) |
missense |
|
|
|
R8769:Cfap74
|
UTSW |
4 |
155,503,105 (GRCm39) |
missense |
|
|
|
R8873:Cfap74
|
UTSW |
4 |
155,539,465 (GRCm39) |
missense |
unknown |
|
|
R8893:Cfap74
|
UTSW |
4 |
155,531,152 (GRCm39) |
missense |
unknown |
|
|
R8900:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
|
R8954:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
|
R8982:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
|
R9008:Cfap74
|
UTSW |
4 |
155,503,121 (GRCm39) |
missense |
|
|
|
R9406:Cfap74
|
UTSW |
4 |
155,510,626 (GRCm39) |
nonsense |
probably null |
|
|
R9606:Cfap74
|
UTSW |
4 |
155,509,133 (GRCm39) |
missense |
|
|
|
R9641:Cfap74
|
UTSW |
4 |
155,549,054 (GRCm39) |
missense |
unknown |
|
|
R9647:Cfap74
|
UTSW |
4 |
155,549,373 (GRCm39) |
missense |
unknown |
|
|
R9655:Cfap74
|
UTSW |
4 |
155,522,665 (GRCm39) |
missense |
|
|
|
R9761:Cfap74
|
UTSW |
4 |
155,550,844 (GRCm39) |
missense |
unknown |
|
|
R9797:Cfap74
|
UTSW |
4 |
155,514,402 (GRCm39) |
missense |
|
|
|
T0970:Cfap74
|
UTSW |
4 |
155,547,574 (GRCm39) |
splice site |
probably null |
|
|
X0066:Cfap74
|
UTSW |
4 |
155,548,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cfap74
|
UTSW |
4 |
155,510,575 (GRCm39) |
missense |
|
|
|
Z1177:Cfap74
|
UTSW |
4 |
155,539,370 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTGAAGAAGAGTCAGGTC -3'
(R):5'- TTGTACACATGGCCAGGAGG -3'
Sequencing Primer
(F):5'- AAGAAGAGTCAGGTCCCCCG -3'
(R):5'- CCTCGGTAATCATGGTCAGAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation