Incidental Mutation 'R9641:Cfap74'
| ID |
725970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9641 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155549054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 38
(S38P)
|
| 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: S38P
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151083
AA Change: S1368P
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: S1368P
| 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: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,430,498 (GRCm39) |
F52L |
possibly damaging |
Het |
| Abca16 |
T |
C |
7: 120,126,308 (GRCm39) |
C1156R |
possibly damaging |
Het |
| Abcg3 |
A |
C |
5: 105,084,483 (GRCm39) |
S571A |
probably benign |
Het |
| Abi3 |
C |
A |
11: 95,724,503 (GRCm39) |
L259F |
unknown |
Het |
| Adam19 |
A |
T |
11: 46,027,149 (GRCm39) |
D594V |
probably damaging |
Het |
| Adam34 |
C |
T |
8: 44,104,076 (GRCm39) |
S523N |
probably damaging |
Het |
| Adam6b |
G |
T |
12: 113,454,176 (GRCm39) |
C331F |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,106,829 (GRCm39) |
V97E |
probably damaging |
Het |
| Adipor1 |
T |
C |
1: 134,355,878 (GRCm39) |
Y226H |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,261 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,740,692 (GRCm39) |
D160G |
possibly damaging |
Het |
| Ap1m1 |
A |
T |
8: 73,003,606 (GRCm39) |
Y94F |
probably damaging |
Het |
| Arhgef28 |
A |
C |
13: 98,078,983 (GRCm39) |
D1314E |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,863,772 (GRCm39) |
I90T |
probably benign |
Het |
| Celf6 |
A |
G |
9: 59,485,833 (GRCm39) |
D58G |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,342 (GRCm39) |
I910V |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,663,592 (GRCm39) |
A769T |
possibly damaging |
Het |
| Crybg2 |
C |
T |
4: 133,816,620 (GRCm39) |
Q1353* |
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,705,982 (GRCm39) |
Y358H |
probably damaging |
Het |
| Dcp1a |
T |
A |
14: 30,241,132 (GRCm39) |
I314N |
probably damaging |
Het |
| Dgki |
A |
C |
6: 37,126,489 (GRCm39) |
W164G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,932,029 (GRCm39) |
I1466V |
probably benign |
Het |
| Efcab6 |
T |
A |
15: 83,763,676 (GRCm39) |
R1219W |
probably damaging |
Het |
| Faap24 |
A |
T |
7: 35,094,494 (GRCm39) |
F102Y |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,244 (GRCm39) |
T2667A |
probably benign |
Het |
| Frem1 |
C |
T |
4: 82,877,653 (GRCm39) |
G1308D |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,816,047 (GRCm39) |
T1347A |
probably benign |
Het |
| Hipk3 |
A |
T |
2: 104,267,376 (GRCm39) |
H620Q |
probably benign |
Het |
| Hpd |
A |
G |
5: 123,310,052 (GRCm39) |
S391P |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,275,965 (GRCm39) |
V437A |
probably benign |
Het |
| Itgax |
G |
T |
7: 127,741,152 (GRCm39) |
G785C |
probably damaging |
Het |
| Kcnk18 |
C |
T |
19: 59,223,266 (GRCm39) |
T137I |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,542,589 (GRCm39) |
F236L |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,337,457 (GRCm39) |
M396T |
probably damaging |
Het |
| Lrfn5 |
C |
A |
12: 61,886,540 (GRCm39) |
N109K |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,093,006 (GRCm39) |
N111I |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,671,251 (GRCm39) |
I2011F |
possibly damaging |
Het |
| Lsr |
A |
G |
7: 30,658,285 (GRCm39) |
I336T |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,250,351 (GRCm39) |
R18S |
probably benign |
Het |
| Mrpl22 |
T |
C |
11: 58,068,047 (GRCm39) |
L115P |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,948,035 (GRCm39) |
S222T |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,522 (GRCm39) |
T211A |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,350,247 (GRCm39) |
I2432N |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,112,783 (GRCm39) |
I1158T |
|
Het |
| Nrip3 |
C |
T |
7: 109,362,793 (GRCm39) |
E164K |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,742 (GRCm39) |
Q45* |
probably null |
Het |
| Ola1 |
T |
C |
2: 73,033,784 (GRCm39) |
N44D |
probably benign |
Het |
| Or1x6 |
C |
T |
11: 50,939,207 (GRCm39) |
T91M |
probably benign |
Het |
| Or2y1c |
T |
C |
11: 49,361,509 (GRCm39) |
F177S |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,100 (GRCm39) |
M183K |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,980,255 (GRCm39) |
I36N |
possibly damaging |
Het |
| Or5p81 |
A |
T |
7: 108,267,516 (GRCm39) |
N298Y |
probably damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,742,771 (GRCm39) |
F31L |
probably benign |
Het |
| Or8b51 |
T |
A |
9: 38,568,915 (GRCm39) |
M258L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,197,816 (GRCm39) |
K753R |
|
Het |
| Phldb1 |
T |
C |
9: 44,627,839 (GRCm39) |
D202G |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,955,789 (GRCm39) |
N376S |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,130 (GRCm39) |
N472D |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,567,811 (GRCm39) |
F708Y |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,303,576 (GRCm39) |
V12A |
probably benign |
Het |
| Saa3 |
T |
C |
7: 46,364,494 (GRCm39) |
I11V |
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,550,882 (GRCm39) |
E771G |
probably damaging |
Het |
| Sar1b |
C |
T |
11: 51,670,573 (GRCm39) |
T39I |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,445,869 (GRCm39) |
L1428Q |
possibly damaging |
Het |
| Sema3f |
A |
G |
9: 107,565,454 (GRCm39) |
I213T |
unknown |
Het |
| Serpina3m |
C |
T |
12: 104,360,085 (GRCm39) |
Q386* |
probably null |
Het |
| Sh3gl3 |
G |
A |
7: 81,909,370 (GRCm39) |
G26R |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,550,633 (GRCm39) |
E435G |
probably damaging |
Het |
| Sidt2 |
G |
T |
9: 45,864,495 (GRCm39) |
A78E |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,477,187 (GRCm39) |
Y818C |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,656,498 (GRCm39) |
L825F |
possibly damaging |
Het |
| Srgn |
T |
A |
10: 62,330,884 (GRCm39) |
M74L |
probably benign |
Het |
| Tbc1d22b |
A |
C |
17: 29,813,747 (GRCm39) |
D360A |
possibly damaging |
Het |
| Tbx4 |
A |
G |
11: 85,803,128 (GRCm39) |
R335G |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,734,200 (GRCm39) |
N168D |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,859,957 (GRCm39) |
Q307* |
probably null |
Het |
| Ttyh2 |
T |
C |
11: 114,598,516 (GRCm39) |
Y296H |
probably damaging |
Het |
| Vmn1r236 |
G |
T |
17: 21,507,043 (GRCm39) |
V54F |
probably benign |
Het |
| Xrra1 |
A |
C |
7: 99,561,088 (GRCm39) |
H443P |
probably benign |
Het |
| Zc3h12a |
T |
C |
4: 125,014,852 (GRCm39) |
T211A |
probably damaging |
Het |
| Zfp386 |
T |
G |
12: 116,023,330 (GRCm39) |
D349E |
probably benign |
Het |
| Zkscan16 |
T |
A |
4: 58,956,577 (GRCm39) |
H286Q |
probably benign |
Het |
| Znrf2 |
C |
T |
6: 54,861,788 (GRCm39) |
P233L |
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 |
|
|
|
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 |
|
|
|
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'- AAGCTGGTCAGGTGACATCTTG -3'
(R):5'- AGCCTCTCCATAAACTGTCTTG -3'
Sequencing Primer
(F):5'- CAGGTGACATCTTGCTCATTG -3'
(R):5'- CCATAAACTGTCTTGACCCCC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation