Incidental Mutation 'R8893:Cfap74'
| ID |
677819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
068696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8893 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155531152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 802
(T802A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105619]
[ENSMUST00000151083]
|
| AlphaFold |
Q3UY96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105619
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151083
AA Change: T802A
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: T802A
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
C |
8: 13,274,511 (GRCm39) |
D749G |
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,598,241 (GRCm39) |
I782N |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,888,037 (GRCm39) |
Q436H |
probably damaging |
Het |
| Baz2b |
A |
C |
2: 59,755,149 (GRCm39) |
F269L |
probably damaging |
Het |
| Bivm |
C |
T |
1: 44,158,439 (GRCm39) |
|
probably benign |
Het |
| Brsk1 |
A |
T |
7: 4,711,089 (GRCm39) |
D603V |
probably damaging |
Het |
| C2cd3 |
C |
T |
7: 100,104,004 (GRCm39) |
P2006S |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,313,764 (GRCm39) |
F1513L |
probably benign |
Het |
| Cdin1 |
T |
A |
2: 115,505,265 (GRCm39) |
S179T |
probably benign |
Het |
| Cep128 |
C |
T |
12: 91,263,006 (GRCm39) |
E298K |
probably damaging |
Het |
| Cnbd2 |
G |
A |
2: 156,154,460 (GRCm39) |
R3Q |
unknown |
Het |
| Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
| Defa28 |
C |
T |
8: 22,073,840 (GRCm39) |
T81I |
|
Het |
| Dync1h1 |
A |
G |
12: 110,608,477 (GRCm39) |
D2735G |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,090,300 (GRCm39) |
I1160F |
possibly damaging |
Het |
| Fzd9 |
T |
C |
5: 135,279,178 (GRCm39) |
M236V |
possibly damaging |
Het |
| H2ac7 |
A |
G |
13: 23,758,664 (GRCm39) |
Q7R |
unknown |
Het |
| Haus6 |
A |
G |
4: 86,501,364 (GRCm39) |
S836P |
possibly damaging |
Het |
| Hdac5 |
T |
A |
11: 102,097,512 (GRCm39) |
K167I |
possibly damaging |
Het |
| Heatr5b |
C |
G |
17: 79,069,424 (GRCm39) |
|
probably benign |
Het |
| Impdh1 |
G |
A |
6: 29,216,248 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 87,997,193 (GRCm39) |
I192T |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,112,367 (GRCm39) |
A2269V |
|
Het |
| Lamb3 |
A |
G |
1: 193,014,644 (GRCm39) |
N601S |
probably damaging |
Het |
| Ltbp2 |
G |
T |
12: 84,875,316 (GRCm39) |
N569K |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,323 (GRCm39) |
S60G |
probably benign |
Het |
| Marchf6 |
A |
T |
15: 31,498,850 (GRCm39) |
V149E |
probably damaging |
Het |
| Mcu |
A |
G |
10: 59,287,078 (GRCm39) |
S160P |
probably benign |
Het |
| Miga1 |
A |
G |
3: 151,982,294 (GRCm39) |
L594P |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Ndst2 |
A |
G |
14: 20,774,830 (GRCm39) |
I791T |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,735,671 (GRCm39) |
M1K |
probably null |
Het |
| Or2bd2 |
T |
C |
7: 6,443,285 (GRCm39) |
C129R |
probably damaging |
Het |
| Or5c1 |
A |
G |
2: 37,222,388 (GRCm39) |
I210V |
probably damaging |
Het |
| Ormdl1 |
A |
T |
1: 53,344,708 (GRCm39) |
D90V |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,804,903 (GRCm39) |
|
probably benign |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,071 (GRCm39) |
L17Q |
probably benign |
Het |
| Pde3a |
A |
T |
6: 141,405,522 (GRCm39) |
D458V |
probably damaging |
Het |
| Pgm1 |
T |
G |
4: 99,824,297 (GRCm39) |
N323K |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pigw |
A |
T |
11: 84,767,961 (GRCm39) |
I456K |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
A |
10: 94,685,709 (GRCm39) |
I761L |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,382,060 (GRCm39) |
M212K |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,717,151 (GRCm39) |
N172D |
probably damaging |
Het |
| Rab3b |
A |
C |
4: 108,797,925 (GRCm39) |
D192A |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,398,350 (GRCm39) |
L1105P |
probably benign |
Het |
| Rinl |
T |
A |
7: 28,491,747 (GRCm39) |
I100N |
probably damaging |
Het |
| Rnf13 |
T |
G |
3: 57,714,520 (GRCm39) |
I193S |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,333,868 (GRCm39) |
I3027V |
|
Het |
| Sik2 |
A |
T |
9: 50,810,026 (GRCm39) |
S512R |
probably damaging |
Het |
| Snx17 |
A |
G |
5: 31,353,887 (GRCm39) |
Y225C |
probably damaging |
Het |
| Spata13 |
A |
T |
14: 60,987,524 (GRCm39) |
D894V |
probably damaging |
Het |
| Spx |
A |
G |
6: 142,360,543 (GRCm39) |
D65G |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,299,020 (GRCm39) |
S1022* |
probably null |
Het |
| Tchh |
C |
T |
3: 93,354,957 (GRCm39) |
Q1466* |
probably null |
Het |
| Tmem120b |
T |
C |
5: 123,254,302 (GRCm39) |
L292P |
probably damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,677 (GRCm39) |
T758A |
probably benign |
Het |
| Vmn2r45 |
C |
T |
7: 8,488,619 (GRCm39) |
C137Y |
probably damaging |
Het |
| Zfp994 |
A |
G |
17: 22,424,306 (GRCm39) |
S4P |
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 |
|
|
R8900:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
|
R8954:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
|
R8957: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'- TCCTCTGGATCCAGCAGAAAAG -3'
(R):5'- AGAGCCTAATCAGCTGCCTAG -3'
Sequencing Primer
(F):5'- TCTGGATCCAGCAGAAAAGGATAATC -3'
(R):5'- AGTCCTCTACCATCTAAGGTGAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation