Incidental Mutation 'R1950:Cfap74'
ID |
217188 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap74
|
Ensembl Gene |
ENSMUSG00000078490 |
Gene Name |
cilia and flagella associated protein 74 |
Synonyms |
2010015L04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1950 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 155511887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123626
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151083]
[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 null
Transcript: ENSMUST00000151083
|
SMART Domains |
Protein: ENSMUSP00000123626 Gene: ENSMUSG00000078490
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 null
Transcript: ENSMUST00000151083
|
SMART Domains |
Protein: ENSMUSP00000123626 Gene: ENSMUSG00000078490
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: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,010,677 (GRCm39) |
N478S |
probably damaging |
Het |
Als2 |
T |
A |
1: 59,224,760 (GRCm39) |
|
probably null |
Het |
Ankfy1 |
A |
G |
11: 72,651,155 (GRCm39) |
Y1035C |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,616,608 (GRCm39) |
T2394A |
probably damaging |
Het |
Axin1 |
G |
C |
17: 26,412,938 (GRCm39) |
G780R |
possibly damaging |
Het |
Carm1 |
A |
T |
9: 21,485,812 (GRCm39) |
T127S |
probably benign |
Het |
Ccdc73 |
T |
C |
2: 104,757,280 (GRCm39) |
I81T |
probably benign |
Het |
Cdh12 |
T |
C |
15: 21,237,965 (GRCm39) |
Y67H |
probably damaging |
Het |
Cfap65 |
C |
A |
1: 74,946,819 (GRCm39) |
G1297V |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,078,968 (GRCm39) |
Y426C |
probably damaging |
Het |
Clpp |
A |
G |
17: 57,303,039 (GRCm39) |
|
probably benign |
Het |
Clrn3 |
T |
G |
7: 135,115,813 (GRCm39) |
Y179S |
possibly damaging |
Het |
Cntn5 |
A |
C |
9: 9,781,774 (GRCm39) |
M635R |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,537,831 (GRCm39) |
S2546T |
possibly damaging |
Het |
Ctla2b |
T |
C |
13: 61,043,863 (GRCm39) |
N102S |
possibly damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,418,674 (GRCm39) |
I154F |
probably benign |
Het |
Dffa |
C |
A |
4: 149,188,839 (GRCm39) |
S44R |
probably benign |
Het |
Ehbp1 |
T |
A |
11: 22,009,228 (GRCm39) |
K930M |
probably damaging |
Het |
Erc2 |
T |
A |
14: 27,634,857 (GRCm39) |
S473T |
probably damaging |
Het |
Fbxw24 |
A |
T |
9: 109,434,481 (GRCm39) |
L373H |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,890,194 (GRCm39) |
I244V |
probably damaging |
Het |
Fgfr2 |
G |
A |
7: 129,800,211 (GRCm39) |
T245M |
probably damaging |
Het |
Garin1b |
C |
T |
6: 29,335,815 (GRCm39) |
|
probably null |
Het |
Gbp9 |
T |
A |
5: 105,229,112 (GRCm39) |
M512L |
probably benign |
Het |
Glg1 |
T |
A |
8: 111,892,271 (GRCm39) |
K251I |
possibly damaging |
Het |
Gm10553 |
A |
G |
1: 85,078,141 (GRCm39) |
D86G |
possibly damaging |
Het |
Gm5622 |
T |
C |
14: 51,893,229 (GRCm39) |
V52A |
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,952,716 (GRCm39) |
V239A |
probably benign |
Het |
Gzma |
A |
G |
13: 113,230,463 (GRCm39) |
L246P |
probably damaging |
Het |
Hibadh |
C |
A |
6: 52,533,448 (GRCm39) |
A223S |
probably benign |
Het |
Hydin |
C |
A |
8: 111,336,619 (GRCm39) |
T5132N |
possibly damaging |
Het |
Insrr |
A |
G |
3: 87,721,820 (GRCm39) |
N1198S |
probably damaging |
Het |
Ivl |
T |
C |
3: 92,479,420 (GRCm39) |
E215G |
possibly damaging |
Het |
Jmjd1c |
A |
G |
10: 67,075,701 (GRCm39) |
D2037G |
possibly damaging |
Het |
Kcna3 |
G |
A |
3: 106,944,988 (GRCm39) |
C417Y |
probably damaging |
Het |
Klra2 |
T |
C |
6: 131,207,078 (GRCm39) |
N177S |
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,741,892 (GRCm39) |
S645P |
probably damaging |
Het |
Lrrc15 |
T |
C |
16: 30,092,649 (GRCm39) |
E230G |
probably benign |
Het |
Magel2 |
C |
A |
7: 62,028,163 (GRCm39) |
Q356K |
possibly damaging |
Het |
Mcm6 |
A |
G |
1: 128,273,726 (GRCm39) |
V368A |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,169,830 (GRCm39) |
V50M |
possibly damaging |
Het |
Myrf |
A |
T |
19: 10,195,554 (GRCm39) |
F419I |
possibly damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Or10ak16 |
G |
A |
4: 118,750,537 (GRCm39) |
V86M |
probably benign |
Het |
Or52i2 |
A |
G |
7: 102,319,684 (GRCm39) |
M186V |
probably benign |
Het |
Otud4 |
G |
A |
8: 80,372,961 (GRCm39) |
R93H |
probably damaging |
Het |
Pank4 |
T |
A |
4: 155,056,977 (GRCm39) |
M390K |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,576,029 (GRCm39) |
V401A |
probably damaging |
Het |
Prdm6 |
C |
A |
18: 53,669,796 (GRCm39) |
T138K |
possibly damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,387,337 (GRCm39) |
E1206G |
possibly damaging |
Het |
Prr30 |
A |
T |
14: 101,435,377 (GRCm39) |
I395N |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,982,751 (GRCm39) |
G19R |
probably damaging |
Het |
Ramacl |
A |
G |
13: 67,055,269 (GRCm39) |
|
probably benign |
Het |
Rrp12 |
A |
G |
19: 41,881,029 (GRCm39) |
V134A |
probably damaging |
Het |
Scly |
A |
G |
1: 91,233,116 (GRCm39) |
T76A |
probably benign |
Het |
Scube3 |
T |
C |
17: 28,383,274 (GRCm39) |
S439P |
possibly damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,388,233 (GRCm39) |
F153S |
probably damaging |
Het |
Slc25a30 |
T |
G |
14: 76,007,007 (GRCm39) |
K163T |
possibly damaging |
Het |
Slc26a8 |
T |
A |
17: 28,863,614 (GRCm39) |
D715V |
probably benign |
Het |
Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
Smr2 |
C |
CT |
5: 88,256,685 (GRCm39) |
|
probably null |
Het |
Sp6 |
T |
G |
11: 96,912,940 (GRCm39) |
S218A |
probably benign |
Het |
Spata21 |
T |
C |
4: 140,838,716 (GRCm39) |
V589A |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,044,593 (GRCm39) |
I71V |
probably benign |
Het |
Syne2 |
G |
T |
12: 75,999,644 (GRCm39) |
G2347C |
probably benign |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Thbs4 |
A |
T |
13: 92,906,079 (GRCm39) |
N387K |
probably damaging |
Het |
Tmem184a |
T |
C |
5: 139,793,381 (GRCm39) |
D216G |
probably damaging |
Het |
Tprg1 |
T |
A |
16: 25,136,098 (GRCm39) |
S30T |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,738,522 (GRCm39) |
W778R |
probably damaging |
Het |
Ttpa |
T |
C |
4: 20,008,633 (GRCm39) |
L65P |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,487,382 (GRCm39) |
N3050I |
probably damaging |
Het |
Xpot |
T |
C |
10: 121,455,053 (GRCm39) |
I30V |
probably benign |
Het |
Zfp944 |
A |
G |
17: 22,558,681 (GRCm39) |
S189P |
probably benign |
Het |
Zftraf1 |
A |
G |
15: 76,543,417 (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 |
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'- ATTTGCTCTTCTGCTGGCAG -3'
(R):5'- GTGTGGGATCATCATGCACACC -3'
Sequencing Primer
(F):5'- TTCTGCTGGCAGGAGCG -3'
(R):5'- TCGGCCTTGAACTCAGAGATCTG -3'
|
Posted On |
2014-08-01 |