Incidental Mutation 'R6284:Cfap74'
| ID |
508100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
044454-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6284 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155536253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 863
(F863L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105619]
[ENSMUST00000151083]
|
| AlphaFold |
Q3UY96 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000050128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135407
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151083
AA Change: F863L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: F863L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165947
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
G |
T |
6: 72,324,437 (GRCm39) |
G16C |
probably damaging |
Het |
| Abca7 |
G |
A |
10: 79,840,244 (GRCm39) |
V801I |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,532,143 (GRCm39) |
L1030Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,735,394 (GRCm39) |
T423A |
possibly damaging |
Het |
| Anpep |
T |
A |
7: 79,475,550 (GRCm39) |
D111V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,356,676 (GRCm39) |
|
probably null |
Het |
| Atp5f1a |
T |
A |
18: 77,866,168 (GRCm39) |
S106T |
probably benign |
Het |
| Atp5me |
T |
C |
5: 108,581,925 (GRCm39) |
I20V |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,922,605 (GRCm39) |
|
probably null |
Het |
| Bclaf1 |
T |
G |
10: 20,197,906 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
G |
5: 41,976,130 (GRCm39) |
V1728A |
probably benign |
Het |
| Braf |
A |
G |
6: 39,665,216 (GRCm39) |
F51L |
possibly damaging |
Het |
| Camsap2 |
A |
G |
1: 136,232,175 (GRCm39) |
I140T |
possibly damaging |
Het |
| Ccdc24 |
A |
T |
4: 117,726,850 (GRCm39) |
|
probably null |
Het |
| Cdh26 |
G |
C |
2: 178,091,677 (GRCm39) |
G79R |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,384,939 (GRCm39) |
L2447P |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,336,727 (GRCm39) |
G917S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,604,426 (GRCm39) |
|
probably null |
Het |
| Cul5 |
G |
A |
9: 53,535,035 (GRCm39) |
P596L |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,268,166 (GRCm39) |
R2863W |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,971,384 (GRCm39) |
E69G |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,762,281 (GRCm39) |
I1106K |
probably damaging |
Het |
| Erich2 |
T |
A |
2: 70,370,028 (GRCm39) |
I402N |
probably damaging |
Het |
| Fam162b |
T |
C |
10: 51,461,598 (GRCm39) |
K155R |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,579,995 (GRCm39) |
P737S |
probably benign |
Het |
| Glb1l2 |
A |
T |
9: 26,678,744 (GRCm39) |
S466T |
probably benign |
Het |
| Kazn |
G |
A |
4: 141,844,508 (GRCm39) |
L402F |
probably benign |
Het |
| Kcnj13 |
A |
T |
1: 87,314,608 (GRCm39) |
S205T |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,117,091 (GRCm39) |
V2462E |
probably damaging |
Het |
| Lce1b |
A |
C |
3: 92,563,411 (GRCm39) |
C41G |
unknown |
Het |
| Lyar |
T |
A |
5: 38,383,339 (GRCm39) |
W77R |
probably damaging |
Het |
| Marchf11 |
G |
A |
15: 26,409,432 (GRCm39) |
R377Q |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,185,561 (GRCm39) |
F869L |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,329,887 (GRCm39) |
Y6* |
probably null |
Het |
| Myzap |
T |
C |
9: 71,466,207 (GRCm39) |
I150V |
probably benign |
Het |
| Nop14 |
C |
T |
5: 34,798,835 (GRCm39) |
|
probably null |
Het |
| Oprl1 |
T |
A |
2: 181,359,784 (GRCm39) |
|
probably benign |
Het |
| Pacsin1 |
T |
C |
17: 27,927,478 (GRCm39) |
L432P |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,167,580 (GRCm39) |
L116P |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,547,782 (GRCm39) |
V482M |
probably benign |
Het |
| Pnliprp1 |
T |
A |
19: 58,723,416 (GRCm39) |
I269N |
probably damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,906,630 (GRCm39) |
D664E |
possibly damaging |
Het |
| Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
| Rps6kb2 |
G |
T |
19: 4,211,186 (GRCm39) |
T113K |
probably benign |
Het |
| Rrp7a |
A |
T |
15: 83,006,061 (GRCm39) |
I63N |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,900,847 (GRCm39) |
|
probably null |
Het |
| Slco1a7 |
T |
C |
6: 141,671,119 (GRCm39) |
D451G |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,642,931 (GRCm39) |
G1056V |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,642,923 (GRCm39) |
S1059A |
probably benign |
Het |
| Taldo1 |
T |
A |
7: 140,978,496 (GRCm39) |
S149T |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,442 (GRCm39) |
D45G |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,770,558 (GRCm39) |
S783P |
probably damaging |
Het |
| Trap1 |
A |
G |
16: 3,878,673 (GRCm39) |
Y220H |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,643,601 (GRCm39) |
D462G |
possibly damaging |
Het |
| Ttc21a |
A |
G |
9: 119,773,028 (GRCm39) |
E235G |
probably damaging |
Het |
| Tubb4a |
A |
G |
17: 57,387,833 (GRCm39) |
Y398H |
probably damaging |
Het |
| Ube2z |
A |
G |
11: 95,941,233 (GRCm39) |
F303S |
probably damaging |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,254 (GRCm39) |
S138P |
probably damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
| Zfp93 |
T |
A |
7: 23,975,054 (GRCm39) |
C346* |
probably null |
Het |
| Zfp938 |
A |
T |
10: 82,063,400 (GRCm39) |
S52R |
possibly damaging |
Het |
| Zp1 |
A |
T |
19: 10,893,867 (GRCm39) |
L446Q |
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 |
|
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 |
|
|
|
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'- ATATGTGCACTGCCTACTGC -3'
(R):5'- GTTCAGGTCATGACGCAGAG -3'
Sequencing Primer
(F):5'- ACACCTGTTCTGTCATTACAAATACC -3'
(R):5'- TCATGACGCAGAGCCTCAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation