Incidental Mutation 'R7116:Cfap74'
ID |
551760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap74
|
Ensembl Gene |
ENSMUSG00000078490 |
Gene Name |
cilia and flagella associated protein 74 |
Synonyms |
2010015L04Rik |
MMRRC Submission |
045207-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7116 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155539518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 948
(F948L)
|
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: F948L
|
SMART Domains |
Protein: ENSMUSP00000123626 Gene: ENSMUSG00000078490 AA Change: F948L
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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
G |
12: 80,251,751 (GRCm39) |
S109P |
probably damaging |
Het |
Afg3l1 |
T |
G |
8: 124,216,601 (GRCm39) |
L280R |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,369,943 (GRCm39) |
S129T |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,622,869 (GRCm39) |
S328P |
probably damaging |
Het |
Aox3 |
A |
T |
1: 58,192,689 (GRCm39) |
E554D |
probably benign |
Het |
Bcl11a |
T |
C |
11: 24,113,839 (GRCm39) |
V394A |
probably damaging |
Het |
Cass4 |
A |
G |
2: 172,269,889 (GRCm39) |
Y657C |
unknown |
Het |
Ccdc88a |
C |
T |
11: 29,454,051 (GRCm39) |
A1738V |
probably benign |
Het |
Chgb |
A |
T |
2: 132,623,237 (GRCm39) |
|
probably benign |
Het |
Coro1c |
C |
T |
5: 113,990,267 (GRCm39) |
W138* |
probably null |
Het |
Dgkb |
A |
G |
12: 38,031,989 (GRCm39) |
Q17R |
probably benign |
Het |
Esco2 |
A |
G |
14: 66,064,006 (GRCm39) |
Y393H |
probably damaging |
Het |
Eya3 |
T |
A |
4: 132,422,110 (GRCm39) |
D228E |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,173,162 (GRCm39) |
D2517G |
probably damaging |
Het |
Fry |
T |
A |
5: 150,319,334 (GRCm39) |
|
probably null |
Het |
Gal3st2b |
A |
T |
1: 93,868,498 (GRCm39) |
Q243L |
possibly damaging |
Het |
Gimap9 |
C |
T |
6: 48,654,989 (GRCm39) |
A192V |
probably benign |
Het |
Glg1 |
T |
A |
8: 111,905,589 (GRCm39) |
Q564L |
probably benign |
Het |
H2-Aa |
A |
T |
17: 34,502,601 (GRCm39) |
Y188* |
probably null |
Het |
Hira |
T |
C |
16: 18,730,864 (GRCm39) |
Y188H |
probably damaging |
Het |
Ighv8-8 |
C |
T |
12: 115,257,814 (GRCm39) |
D76N |
probably benign |
Het |
Irf6 |
T |
C |
1: 192,849,905 (GRCm39) |
F276L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,458,229 (GRCm39) |
C2000R |
probably damaging |
Het |
Jakmip3 |
T |
C |
7: 138,621,979 (GRCm39) |
V293A |
possibly damaging |
Het |
Kcnh7 |
A |
G |
2: 62,707,614 (GRCm39) |
V132A |
probably benign |
Het |
Kcnj1 |
A |
G |
9: 32,308,277 (GRCm39) |
T234A |
possibly damaging |
Het |
Kpna3 |
T |
A |
14: 61,605,635 (GRCm39) |
N470I |
probably benign |
Het |
Lamb2 |
T |
C |
9: 108,364,522 (GRCm39) |
F1121L |
probably damaging |
Het |
Lingo1 |
T |
C |
9: 56,527,911 (GRCm39) |
D232G |
probably benign |
Het |
Lpxn |
T |
A |
19: 12,788,622 (GRCm39) |
N70K |
probably benign |
Het |
Ltbp4 |
T |
A |
7: 27,004,852 (GRCm39) |
H1657L |
probably damaging |
Het |
Luzp2 |
C |
A |
7: 54,915,078 (GRCm39) |
F334L |
possibly damaging |
Het |
Mgat5b |
A |
T |
11: 116,835,785 (GRCm39) |
S142C |
possibly damaging |
Het |
Mroh7 |
G |
A |
4: 106,568,517 (GRCm39) |
T396I |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,417,487 (GRCm39) |
S3478P |
probably benign |
Het |
Nfatc2 |
A |
T |
2: 168,349,269 (GRCm39) |
M626K |
probably benign |
Het |
Nlrp14 |
A |
G |
7: 106,782,255 (GRCm39) |
D484G |
possibly damaging |
Het |
Npc1 |
T |
C |
18: 12,344,601 (GRCm39) |
Y423C |
probably damaging |
Het |
Nrsn1 |
A |
G |
13: 25,437,388 (GRCm39) |
I180T |
probably damaging |
Het |
Or11g25 |
A |
T |
14: 50,723,025 (GRCm39) |
I37F |
probably benign |
Het |
Or51a8 |
T |
A |
7: 102,549,842 (GRCm39) |
N89K |
probably benign |
Het |
Osbpl6 |
A |
T |
2: 76,426,225 (GRCm39) |
I935F |
probably benign |
Het |
Otog |
T |
C |
7: 45,947,689 (GRCm39) |
F96L |
probably damaging |
Het |
Pde1b |
T |
C |
15: 103,436,745 (GRCm39) |
L534P |
possibly damaging |
Het |
Pdzd8 |
C |
T |
19: 59,288,125 (GRCm39) |
E1092K |
probably damaging |
Het |
Pfkl |
T |
C |
10: 77,837,249 (GRCm39) |
H108R |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,421,372 (GRCm39) |
V3047I |
probably benign |
Het |
Plag1 |
A |
T |
4: 3,904,812 (GRCm39) |
C126* |
probably null |
Het |
Pphln1 |
T |
A |
15: 93,353,406 (GRCm39) |
S229T |
probably benign |
Het |
Pramel5 |
C |
T |
4: 144,000,451 (GRCm39) |
D42N |
possibly damaging |
Het |
Psd3 |
A |
G |
8: 68,166,390 (GRCm39) |
V915A |
probably benign |
Het |
Ptdss1 |
T |
A |
13: 67,093,391 (GRCm39) |
I77N |
probably benign |
Het |
Rsbn1 |
T |
A |
3: 103,821,892 (GRCm39) |
C3* |
probably null |
Het |
Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Sv2c |
A |
T |
13: 96,113,152 (GRCm39) |
V599E |
probably damaging |
Het |
Vmn2r37 |
T |
C |
7: 9,220,898 (GRCm39) |
T322A |
probably benign |
Het |
Vmn2r60 |
T |
A |
7: 41,786,487 (GRCm39) |
M430K |
probably benign |
Het |
Wipf3 |
T |
A |
6: 54,458,904 (GRCm39) |
|
probably null |
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 |
|
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'- CAGTGGCTGAGAACGTTCTTTG -3'
(R):5'- GGAAGTCTGCAGCTCTTTTG -3'
Sequencing Primer
(F):5'- GAGAACGTTCTTTGCCTTCCAAATC -3'
(R):5'- CAGCTCTTTTGGGTGTACCTTACAG -3'
|
Posted On |
2019-05-15 |