Incidental Mutation 'R7354:Cfap74'
| ID |
570791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
045440-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7354 (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 T
at 155549804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 146
(V146L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023920]
[ENSMUST00000105619]
[ENSMUST00000151083]
[ENSMUST00000178188]
[ENSMUST00000178238]
|
| AlphaFold |
Q3UY96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023920
|
| SMART Domains |
Protein: ENSMUSP00000023920
Gene: ENSMUSG00000023153
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:TMEM52
|
29 |
182 |
6.3e-83 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000105619
AA Change: V146L
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151083
AA Change: V1476L
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: V1476L
| 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 |
probably benign
Transcript: ENSMUST00000178188
|
| SMART Domains |
Protein: ENSMUSP00000136899
Gene: ENSMUSG00000023153
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:TMEM52
|
35 |
168 |
1.1e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178238
|
| SMART Domains |
Protein: ENSMUSP00000136919
Gene: ENSMUSG00000023153
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:TMEM52
|
30 |
184 |
6.2e-73 |
PFAM |
|
low complexity region
|
185 |
197 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (82/82) |
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
T |
A |
4: 126,311,099 (GRCm39) |
Q38L |
possibly damaging |
Het |
| Apon |
T |
A |
10: 128,090,607 (GRCm39) |
I95N |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,421,258 (GRCm39) |
P464Q |
unknown |
Het |
| Arid4b |
A |
G |
13: 14,339,455 (GRCm39) |
D503G |
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,505,637 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
T |
7: 126,048,028 (GRCm39) |
V594D |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,215 (GRCm39) |
F519L |
possibly damaging |
Het |
| Bora |
A |
G |
14: 99,284,794 (GRCm39) |
T15A |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,804,464 (GRCm39) |
M192K |
probably benign |
Het |
| Ccdc125 |
T |
G |
13: 100,814,382 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
G |
A |
7: 130,858,458 (GRCm39) |
C1042Y |
possibly damaging |
Het |
| Cdcp3 |
G |
T |
7: 130,873,762 (GRCm39) |
C1696F |
unknown |
Het |
| Crisp1 |
G |
A |
17: 40,630,071 (GRCm39) |
|
probably benign |
Het |
| Ctbp1 |
A |
T |
5: 33,407,732 (GRCm39) |
H292Q |
possibly damaging |
Het |
| Defb5 |
T |
A |
8: 19,300,750 (GRCm39) |
M34K |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,146,249 (GRCm39) |
I93V |
probably benign |
Het |
| Dqx1 |
T |
A |
6: 83,037,957 (GRCm39) |
Y448* |
probably null |
Het |
| Dynap |
A |
T |
18: 70,374,371 (GRCm39) |
C52S |
possibly damaging |
Het |
| Ehd4 |
C |
A |
2: 119,932,613 (GRCm39) |
R271L |
probably damaging |
Het |
| Ercc2 |
T |
G |
7: 19,127,579 (GRCm39) |
I619S |
possibly damaging |
Het |
| Etf1 |
A |
G |
18: 35,039,040 (GRCm39) |
I409T |
probably damaging |
Het |
| Fam117a |
A |
G |
11: 95,271,529 (GRCm39) |
D367G |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,572,907 (GRCm39) |
D1447G |
unknown |
Het |
| Fbxw9 |
T |
C |
8: 85,788,825 (GRCm39) |
S192P |
probably damaging |
Het |
| Frzb |
A |
T |
2: 80,277,153 (GRCm39) |
L11Q |
probably damaging |
Het |
| Gm14496 |
T |
C |
2: 181,642,479 (GRCm39) |
S717P |
probably damaging |
Het |
| Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
| Gm4353 |
C |
T |
7: 115,683,146 (GRCm39) |
R145Q |
probably benign |
Het |
| Gpr12 |
A |
T |
5: 146,520,772 (GRCm39) |
V50D |
probably damaging |
Het |
| Hes1 |
T |
C |
16: 29,884,746 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,682,196 (GRCm39) |
C451* |
probably null |
Het |
| Iars1 |
T |
C |
13: 49,857,796 (GRCm39) |
V347A |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,903,770 (GRCm39) |
S323P |
possibly damaging |
Het |
| Itga6 |
G |
A |
2: 71,650,574 (GRCm39) |
A207T |
probably damaging |
Het |
| Lgi4 |
T |
A |
7: 30,760,047 (GRCm39) |
L81H |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,407,277 (GRCm39) |
E1888G |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 65,059,539 (GRCm39) |
T1142M |
probably damaging |
Het |
| Mdfic2 |
T |
A |
6: 98,215,242 (GRCm39) |
D127V |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,721,732 (GRCm39) |
Y350F |
probably damaging |
Het |
| Miga1 |
T |
C |
3: 151,996,137 (GRCm39) |
D351G |
probably damaging |
Het |
| Mro |
A |
G |
18: 74,006,385 (GRCm39) |
T111A |
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,714,326 (GRCm39) |
V471E |
probably damaging |
Het |
| Myh3 |
C |
A |
11: 66,987,708 (GRCm39) |
L1394I |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,078,319 (GRCm39) |
V492A |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,458,247 (GRCm39) |
F2115S |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,072,376 (GRCm39) |
M489K |
possibly damaging |
Het |
| Or12j5 |
A |
C |
7: 140,084,099 (GRCm39) |
I91R |
probably damaging |
Het |
| Or14j7 |
A |
G |
17: 38,235,284 (GRCm39) |
I276V |
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,266,201 (GRCm39) |
I212F |
probably benign |
Het |
| Or4c122 |
T |
C |
2: 89,079,031 (GRCm39) |
|
probably null |
Het |
| Or4k44 |
C |
T |
2: 111,367,909 (GRCm39) |
A242T |
possibly damaging |
Het |
| Orc2 |
A |
G |
1: 58,508,906 (GRCm39) |
S462P |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,706 (GRCm39) |
T155A |
probably benign |
Het |
| Pcdhb16 |
G |
A |
18: 37,611,177 (GRCm39) |
V46I |
possibly damaging |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,311 (GRCm39) |
D336G |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,626,646 (GRCm39) |
R1297S |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,411,427 (GRCm39) |
M868T |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,049,928 (GRCm39) |
M531T |
possibly damaging |
Het |
| Poc5 |
T |
C |
13: 96,531,033 (GRCm39) |
V77A |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,819,027 (GRCm39) |
R180C |
probably damaging |
Het |
| Rho |
C |
A |
6: 115,912,464 (GRCm39) |
Y268* |
probably null |
Het |
| Riok1 |
A |
T |
13: 38,231,288 (GRCm39) |
H182L |
probably benign |
Het |
| Rnf207 |
T |
C |
4: 152,398,548 (GRCm39) |
D273G |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,305,263 (GRCm39) |
Y213C |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,952,951 (GRCm39) |
Y181C |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,771,897 (GRCm39) |
H401Y |
probably benign |
Het |
| Slc5a5 |
C |
A |
8: 71,342,247 (GRCm39) |
R268L |
probably damaging |
Het |
| Slc9a8 |
T |
C |
2: 167,316,051 (GRCm39) |
F576S |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,804,963 (GRCm39) |
E617G |
probably benign |
Het |
| Spata31d1e |
A |
T |
13: 59,889,648 (GRCm39) |
L724* |
probably null |
Het |
| Top1 |
T |
C |
2: 160,546,878 (GRCm39) |
I386T |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,911,859 (GRCm39) |
D41E |
probably damaging |
Het |
| Tsc22d4 |
G |
A |
5: 137,766,371 (GRCm39) |
R479Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,108,961 (GRCm39) |
T2191I |
possibly damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,043 (GRCm39) |
D771E |
probably damaging |
Het |
| Vmn2r82 |
A |
C |
10: 79,192,464 (GRCm39) |
M14L |
probably benign |
Het |
| Zc3h7a |
C |
T |
16: 10,966,378 (GRCm39) |
S583N |
probably damaging |
Het |
| Zfp518b |
G |
A |
5: 38,840,122 (GRCm39) |
|
probably benign |
Het |
| Zswim4 |
A |
G |
8: 84,955,478 (GRCm39) |
W314R |
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 |
|
|
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'- CATCTGGTCCTTCTTGGCAG -3'
(R):5'- GGCCTCATTATGCCCACTAG -3'
Sequencing Primer
(F):5'- GGCAGCTTCTATTATCTGGCC -3'
(R):5'- ATTATGCCCACTAGCTGGCG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation