Incidental Mutation 'R7261:Cfap74'
ID |
564607 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap74
|
Ensembl Gene |
ENSMUSG00000078490 |
Gene Name |
cilia and flagella associated protein 74 |
Synonyms |
2010015L04Rik |
MMRRC Submission |
045387-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7261 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 155549831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 155
(P155T)
|
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: P155T
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151083
AA Change: P1485T
|
SMART Domains |
Protein: ENSMUSP00000123626 Gene: ENSMUSG00000078490 AA Change: P1485T
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: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
99% (84/85) |
Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,259,526 (GRCm39) |
F1954L |
probably damaging |
Het |
Acmsd |
T |
G |
1: 127,687,561 (GRCm39) |
I281R |
probably damaging |
Het |
Adamts2 |
A |
T |
11: 50,677,424 (GRCm39) |
M742L |
possibly damaging |
Het |
Adgrf4 |
G |
A |
17: 42,978,326 (GRCm39) |
T339I |
probably benign |
Het |
Aff1 |
T |
C |
5: 103,976,245 (GRCm39) |
S448P |
probably damaging |
Het |
Agbl2 |
A |
T |
2: 90,619,288 (GRCm39) |
S38C |
possibly damaging |
Het |
Akap7 |
C |
T |
10: 25,147,416 (GRCm39) |
D105N |
possibly damaging |
Het |
Arhgap21 |
A |
G |
2: 20,885,177 (GRCm39) |
F677L |
probably benign |
Het |
Atf6b |
G |
T |
17: 34,869,792 (GRCm39) |
V271F |
probably damaging |
Het |
B3gnt5 |
A |
G |
16: 19,588,123 (GRCm39) |
Y114C |
probably damaging |
Het |
Casp7 |
T |
A |
19: 56,424,765 (GRCm39) |
D161E |
probably benign |
Het |
Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
C |
10: 41,437,136 (GRCm39) |
T1758A |
probably benign |
Het |
Champ1 |
A |
G |
8: 13,928,517 (GRCm39) |
D225G |
possibly damaging |
Het |
Chrng |
A |
T |
1: 87,134,962 (GRCm39) |
|
probably null |
Het |
Cnksr1 |
T |
C |
4: 133,963,084 (GRCm39) |
|
probably null |
Het |
Col15a1 |
G |
A |
4: 47,269,088 (GRCm39) |
G582D |
probably benign |
Het |
Cwc25 |
A |
G |
11: 97,648,585 (GRCm39) |
V81A |
possibly damaging |
Het |
Ddhd1 |
A |
G |
14: 45,894,688 (GRCm39) |
Y261H |
probably damaging |
Het |
Defa29 |
A |
G |
8: 21,816,818 (GRCm39) |
|
probably null |
Het |
Diaph3 |
A |
C |
14: 87,202,893 (GRCm39) |
C666G |
probably benign |
Het |
Dlx2 |
A |
G |
2: 71,375,019 (GRCm39) |
Y282H |
probably damaging |
Het |
Dsc3 |
A |
T |
18: 20,113,814 (GRCm39) |
Y369* |
probably null |
Het |
Dtwd1 |
A |
G |
2: 126,000,424 (GRCm39) |
N120S |
probably benign |
Het |
Dysf |
G |
A |
6: 84,169,992 (GRCm39) |
S1761N |
probably damaging |
Het |
Enthd1 |
A |
T |
15: 80,444,416 (GRCm39) |
N46K |
probably damaging |
Het |
Epha7 |
T |
A |
4: 28,813,418 (GRCm39) |
I12N |
probably benign |
Het |
Fam171a2 |
T |
A |
11: 102,328,900 (GRCm39) |
N620Y |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,896,308 (GRCm39) |
S112G |
unknown |
Het |
Gfpt2 |
A |
T |
11: 49,714,078 (GRCm39) |
E278D |
possibly damaging |
Het |
Gm3285 |
A |
G |
10: 77,698,244 (GRCm39) |
Q131R |
unknown |
Het |
Gpcpd1 |
A |
C |
2: 132,410,619 (GRCm39) |
C23G |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,037,954 (GRCm39) |
H228Q |
probably benign |
Het |
Hdac7 |
A |
G |
15: 97,704,415 (GRCm39) |
V500A |
probably benign |
Het |
Hykk |
T |
G |
9: 54,828,010 (GRCm39) |
M83R |
possibly damaging |
Het |
Idi1 |
A |
G |
13: 8,936,931 (GRCm39) |
I101V |
probably benign |
Het |
Irs2 |
A |
T |
8: 11,057,018 (GRCm39) |
H471Q |
possibly damaging |
Het |
Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
Jak2 |
A |
G |
19: 29,288,385 (GRCm39) |
I1079V |
possibly damaging |
Het |
Kcnt2 |
G |
A |
1: 140,282,255 (GRCm39) |
R80H |
possibly damaging |
Het |
Lamb2 |
T |
C |
9: 108,358,496 (GRCm39) |
Y178H |
probably damaging |
Het |
Lgr5 |
A |
T |
10: 115,423,370 (GRCm39) |
L10Q |
possibly damaging |
Het |
Lnx1 |
G |
T |
5: 74,838,175 (GRCm39) |
S29* |
probably null |
Het |
Lpcat3 |
T |
A |
6: 124,675,050 (GRCm39) |
F57I |
probably benign |
Het |
Manf |
T |
C |
9: 106,769,088 (GRCm39) |
T4A |
probably benign |
Het |
Map2k3 |
G |
A |
11: 60,836,393 (GRCm39) |
|
probably null |
Het |
Myh14 |
G |
A |
7: 44,273,761 (GRCm39) |
Q1329* |
probably null |
Het |
Myocd |
T |
C |
11: 65,078,422 (GRCm39) |
S458G |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,187,143 (GRCm39) |
|
probably null |
Het |
Ndufs8 |
A |
T |
19: 3,961,606 (GRCm39) |
N23K |
probably benign |
Het |
Nkx6-1 |
T |
C |
5: 101,812,006 (GRCm39) |
K32R |
unknown |
Het |
Nlrp3 |
T |
G |
11: 59,439,272 (GRCm39) |
V283G |
possibly damaging |
Het |
Nme3 |
A |
G |
17: 25,116,037 (GRCm39) |
|
probably null |
Het |
Or1o3 |
A |
G |
17: 37,574,076 (GRCm39) |
F160L |
probably benign |
Het |
Or8g23 |
C |
T |
9: 38,971,504 (GRCm39) |
V153M |
possibly damaging |
Het |
Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
Peg10 |
T |
A |
6: 4,756,591 (GRCm39) |
M389K |
unknown |
Het |
Phf23 |
G |
T |
11: 69,890,091 (GRCm39) |
C340F |
possibly damaging |
Het |
Piwil2 |
A |
G |
14: 70,611,860 (GRCm39) |
Y929H |
probably damaging |
Het |
Prss39 |
A |
G |
1: 34,539,369 (GRCm39) |
D203G |
probably damaging |
Het |
Prss54 |
G |
T |
8: 96,286,367 (GRCm39) |
D235E |
probably benign |
Het |
Prtg |
T |
A |
9: 72,815,117 (GRCm39) |
M1015K |
possibly damaging |
Het |
Rbbp8 |
T |
C |
18: 11,838,799 (GRCm39) |
I160T |
probably damaging |
Het |
Rxylt1 |
A |
T |
10: 121,924,822 (GRCm39) |
D293E |
probably benign |
Het |
Scn10a |
C |
A |
9: 119,438,790 (GRCm39) |
C1692F |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,648,899 (GRCm39) |
D55N |
probably damaging |
Het |
Secisbp2 |
G |
T |
13: 51,836,498 (GRCm39) |
V768F |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,261,698 (GRCm39) |
T138A |
probably benign |
Het |
Spag16 |
T |
C |
1: 70,338,780 (GRCm39) |
I426T |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,427,011 (GRCm39) |
V250M |
possibly damaging |
Het |
Strbp |
A |
T |
2: 37,531,149 (GRCm39) |
|
probably null |
Het |
Sv2c |
C |
T |
13: 96,224,809 (GRCm39) |
V167M |
probably damaging |
Het |
Tdpoz1 |
G |
A |
3: 93,577,794 (GRCm39) |
S330L |
not run |
Het |
Tigd2 |
T |
A |
6: 59,188,052 (GRCm39) |
D306E |
probably benign |
Het |
Trrap |
C |
T |
5: 144,782,287 (GRCm39) |
P3278S |
possibly damaging |
Het |
Vdac1 |
A |
T |
11: 52,265,761 (GRCm39) |
K28N |
probably damaging |
Het |
Vmn1r84 |
A |
T |
7: 12,096,069 (GRCm39) |
M208K |
probably damaging |
Het |
Vmn2r77 |
A |
T |
7: 86,460,518 (GRCm39) |
K615* |
probably null |
Het |
Vps11 |
A |
G |
9: 44,265,800 (GRCm39) |
L493P |
probably damaging |
Het |
Zbtb21 |
T |
C |
16: 97,754,179 (GRCm39) |
I35V |
possibly damaging |
Het |
Zbtb26 |
A |
T |
2: 37,326,667 (GRCm39) |
M123K |
possibly damaging |
Het |
Zfp236 |
A |
T |
18: 82,627,470 (GRCm39) |
D1576E |
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 |
|
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 |
|
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'- GGCAGCTTCTATTATCTGGCC -3'
(R):5'- GGGTTGATGGTCCGCAATTC -3'
Sequencing Primer
(F):5'- GTTAGAGAACAGCATCCCTGGTTC -3'
(R):5'- GATGGTCCGCAATTCTATCTGC -3'
|
Posted On |
2019-06-26 |