Incidental Mutation 'R0193:Cfap74'
ID |
23208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap74
|
Ensembl Gene |
ENSMUSG00000078490 |
Gene Name |
cilia and flagella associated protein 74 |
Synonyms |
2010015L04Rik |
MMRRC Submission |
038452-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0193 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 155510572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 386
(R386C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123626
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123952]
[ENSMUST00000151083]
|
AlphaFold |
Q3UY96 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000050128
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000094408
|
SMART Domains |
Protein: ENSMUSP00000091975 Gene: ENSMUSG00000042233
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: ENSMUST00000123952
|
SMART Domains |
Protein: ENSMUSP00000131899 Gene: ENSMUSG00000078490
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145520
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151083
AA Change: R386C
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000123626 Gene: ENSMUSG00000078490 AA Change: R386C
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166921
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 94.7%
- 20x: 85.3%
|
Validation Efficiency |
95% (186/196) |
Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
Other mutations in this stock |
Total: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
C |
15: 74,444,005 (GRCm39) |
S96P |
probably damaging |
Het |
Akr1c20 |
A |
G |
13: 4,561,292 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
G |
T |
11: 72,863,046 (GRCm39) |
V99L |
possibly damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,939,308 (GRCm39) |
I691N |
possibly damaging |
Het |
Atp8b1 |
C |
T |
18: 64,694,707 (GRCm39) |
R525Q |
probably benign |
Het |
Aurkb |
A |
G |
11: 68,939,370 (GRCm39) |
D151G |
probably damaging |
Het |
Bank1 |
A |
T |
3: 135,772,279 (GRCm39) |
|
probably benign |
Het |
Bcl9l |
T |
C |
9: 44,418,703 (GRCm39) |
L847P |
probably damaging |
Het |
Bscl2 |
T |
A |
19: 8,824,793 (GRCm39) |
M292K |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,579,363 (GRCm39) |
|
probably benign |
Het |
Cadps2 |
T |
C |
6: 23,599,439 (GRCm39) |
K260R |
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,893,460 (GRCm39) |
S1419P |
probably damaging |
Het |
Ccdc180 |
G |
A |
4: 45,914,803 (GRCm39) |
E145K |
probably benign |
Het |
Ccno |
C |
T |
13: 113,125,418 (GRCm39) |
|
probably benign |
Het |
Cd300a |
A |
G |
11: 114,784,202 (GRCm39) |
D70G |
probably benign |
Het |
Cenpc1 |
T |
C |
5: 86,180,262 (GRCm39) |
D670G |
probably benign |
Het |
Cenpl |
A |
G |
1: 160,913,558 (GRCm39) |
I323V |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,269,573 (GRCm39) |
|
probably null |
Het |
Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
Clcnkb |
T |
C |
4: 141,139,627 (GRCm39) |
E125G |
possibly damaging |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Coro7 |
G |
A |
16: 4,445,368 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
C |
T |
7: 105,414,190 (GRCm39) |
R875H |
probably benign |
Het |
Eif3j1 |
A |
C |
2: 121,882,508 (GRCm39) |
M239L |
probably benign |
Het |
Eif4g3 |
G |
T |
4: 137,873,687 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
A |
T |
5: 9,472,359 (GRCm39) |
Q352L |
probably damaging |
Het |
Erbb4 |
T |
C |
1: 68,083,119 (GRCm39) |
|
probably benign |
Het |
Erlin2 |
T |
G |
8: 27,521,792 (GRCm39) |
V164G |
possibly damaging |
Het |
Fbxo43 |
G |
T |
15: 36,162,029 (GRCm39) |
Q393K |
probably benign |
Het |
Fcgr4 |
A |
T |
1: 170,853,329 (GRCm39) |
N178I |
possibly damaging |
Het |
Grid2 |
A |
G |
6: 64,040,937 (GRCm39) |
N293S |
possibly damaging |
Het |
H2-M1 |
C |
T |
17: 36,982,224 (GRCm39) |
V126I |
probably benign |
Het |
Htr1f |
T |
A |
16: 64,747,112 (GRCm39) |
Y60F |
probably damaging |
Het |
Ilf2 |
A |
G |
3: 90,388,646 (GRCm39) |
|
probably null |
Het |
Impg2 |
A |
T |
16: 56,085,412 (GRCm39) |
K931* |
probably null |
Het |
Ints1 |
T |
C |
5: 139,737,485 (GRCm39) |
E2176G |
probably damaging |
Het |
Iqsec2 |
T |
C |
X: 151,006,399 (GRCm39) |
V1319A |
probably benign |
Het |
Iqsec3 |
G |
T |
6: 121,387,683 (GRCm39) |
D685E |
probably damaging |
Het |
Itgbl1 |
G |
A |
14: 124,083,958 (GRCm39) |
V279I |
probably benign |
Het |
Kdm4b |
C |
T |
17: 56,700,952 (GRCm39) |
A541V |
probably benign |
Het |
Kif14 |
A |
T |
1: 136,396,176 (GRCm39) |
T161S |
probably benign |
Het |
Krt86 |
T |
C |
15: 101,377,244 (GRCm39) |
|
probably benign |
Het |
Kyat1 |
C |
T |
2: 30,077,198 (GRCm39) |
|
probably null |
Het |
Limch1 |
T |
C |
5: 67,184,882 (GRCm39) |
W791R |
probably damaging |
Het |
Map3k11 |
T |
A |
19: 5,745,874 (GRCm39) |
M396K |
probably damaging |
Het |
Mat2a |
A |
G |
6: 72,413,178 (GRCm39) |
|
probably null |
Het |
Mbnl2 |
A |
G |
14: 120,616,649 (GRCm39) |
I88V |
possibly damaging |
Het |
Mib2 |
T |
C |
4: 155,740,130 (GRCm39) |
T708A |
probably benign |
Het |
Mix23 |
T |
C |
16: 35,903,184 (GRCm39) |
S59P |
probably damaging |
Het |
Mkks |
T |
C |
2: 136,719,526 (GRCm39) |
|
probably null |
Het |
Mtss1 |
T |
C |
15: 58,815,866 (GRCm39) |
M565V |
probably damaging |
Het |
Myoc |
A |
G |
1: 162,476,604 (GRCm39) |
N436S |
probably damaging |
Het |
Myod1 |
T |
A |
7: 46,026,536 (GRCm39) |
V147E |
probably damaging |
Het |
Ngef |
A |
G |
1: 87,437,056 (GRCm39) |
L144P |
probably benign |
Het |
Ngrn |
C |
T |
7: 79,911,678 (GRCm39) |
R92W |
probably damaging |
Het |
Nup153 |
G |
A |
13: 46,863,130 (GRCm39) |
T349I |
probably benign |
Het |
Or4c15 |
T |
A |
2: 88,760,627 (GRCm39) |
I11L |
probably benign |
Het |
Or52ad1 |
G |
T |
7: 102,995,411 (GRCm39) |
S241R |
possibly damaging |
Het |
Pigl |
A |
G |
11: 62,394,574 (GRCm39) |
I135M |
probably damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,961,318 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,429,141 (GRCm39) |
F2420I |
probably damaging |
Het |
Polr2b |
C |
T |
5: 77,467,923 (GRCm39) |
T119M |
probably damaging |
Het |
Prr29 |
A |
G |
11: 106,267,722 (GRCm39) |
Y130C |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,209,973 (GRCm39) |
I1048V |
probably damaging |
Het |
Rab12 |
G |
A |
17: 66,807,357 (GRCm39) |
T124I |
probably damaging |
Het |
Rab44 |
A |
G |
17: 29,359,281 (GRCm39) |
S490G |
probably benign |
Het |
Rasa3 |
A |
G |
8: 13,620,233 (GRCm39) |
|
probably null |
Het |
Rhbdl3 |
C |
T |
11: 80,244,400 (GRCm39) |
S369L |
possibly damaging |
Het |
Rimbp2 |
A |
T |
5: 128,865,420 (GRCm39) |
S643T |
probably benign |
Het |
Rin1 |
T |
G |
19: 5,102,680 (GRCm39) |
S396R |
probably damaging |
Het |
Rpusd3 |
C |
T |
6: 113,396,198 (GRCm39) |
G28S |
probably damaging |
Het |
Rtl9 |
T |
A |
X: 141,883,274 (GRCm39) |
S229T |
probably damaging |
Het |
Rufy1 |
G |
T |
11: 50,280,679 (GRCm39) |
T701N |
probably benign |
Het |
Scn4a |
A |
T |
11: 106,211,364 (GRCm39) |
L1551* |
probably null |
Het |
Sec24b |
T |
C |
3: 129,782,633 (GRCm39) |
N1119S |
probably null |
Het |
Serbp1 |
T |
A |
6: 67,249,868 (GRCm39) |
*75R |
probably null |
Het |
Setx |
C |
T |
2: 29,069,685 (GRCm39) |
P2497S |
probably benign |
Het |
Slc26a11 |
A |
T |
11: 119,250,140 (GRCm39) |
I132F |
probably damaging |
Het |
Slc4a1 |
A |
G |
11: 102,243,510 (GRCm39) |
V707A |
possibly damaging |
Het |
Slfn1 |
A |
G |
11: 83,012,669 (GRCm39) |
I262V |
probably damaging |
Het |
Tmem168 |
T |
A |
6: 13,583,312 (GRCm39) |
D523V |
possibly damaging |
Het |
Traf7 |
G |
T |
17: 24,729,525 (GRCm39) |
Q469K |
probably benign |
Het |
Trdmt1 |
C |
A |
2: 13,549,428 (GRCm39) |
V6F |
probably damaging |
Het |
Tsacc |
A |
T |
3: 88,194,395 (GRCm39) |
|
probably benign |
Het |
Vmn2r5 |
A |
G |
3: 64,398,951 (GRCm39) |
I589T |
possibly damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,598,460 (GRCm39) |
D699G |
probably damaging |
Het |
Vmn2r82 |
T |
C |
10: 79,217,129 (GRCm39) |
V487A |
probably damaging |
Het |
Zbtb47 |
T |
C |
9: 121,596,732 (GRCm39) |
V696A |
probably damaging |
Het |
Zfp287 |
A |
T |
11: 62,605,855 (GRCm39) |
S351T |
probably benign |
Het |
Zfp654 |
T |
C |
16: 64,606,051 (GRCm39) |
H176R |
possibly 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 |
|
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 |
|
|
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'- AAGTTACACCTCCAGTCACTTTGCC -3'
(R):5'- TTCAGCGTTCAGGGAGACACTAGG -3'
Sequencing Primer
(F):5'- TTGGCTTCCCAGAGAGCTAAG -3'
(R):5'- TGTATGGACTGGCTACACAC -3'
|
Posted On |
2013-04-16 |