Incidental Mutation 'R9647:Cfap74'
| ID |
726786 |
| 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 # |
R9647 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155549373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 78
(Q78L)
|
| 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: Q78L
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151083
AA Change: Q1408L
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: Q1408L
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,195,310 (GRCm39) |
R729L |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,037,408 (GRCm39) |
S295P |
probably benign |
Het |
| Alb |
G |
A |
5: 90,620,544 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
A |
3: 126,792,623 (GRCm39) |
N756I |
possibly damaging |
Het |
| Ankar |
A |
G |
1: 72,689,307 (GRCm39) |
Y1275H |
probably damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,999,305 (GRCm39) |
V4678M |
probably damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,136,694 (GRCm39) |
V499A |
probably benign |
Het |
| Ccdc142 |
A |
G |
6: 83,079,259 (GRCm39) |
N199D |
probably benign |
Het |
| Ccdc179 |
G |
T |
7: 51,663,311 (GRCm39) |
Y38* |
probably null |
Het |
| Cdhr2 |
A |
T |
13: 54,867,394 (GRCm39) |
M438L |
probably benign |
Het |
| Crocc |
A |
T |
4: 140,774,335 (GRCm39) |
S155T |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,081,567 (GRCm39) |
H576Q |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,922,214 (GRCm39) |
L156Q |
probably damaging |
Het |
| Dido1 |
T |
A |
2: 180,315,068 (GRCm39) |
T795S |
probably benign |
Het |
| Dlx1 |
T |
C |
2: 71,360,476 (GRCm39) |
S47P |
probably benign |
Het |
| Dspp |
G |
A |
5: 104,323,636 (GRCm39) |
A260T |
possibly damaging |
Het |
| Ephx2 |
T |
C |
14: 66,326,957 (GRCm39) |
T413A |
probably benign |
Het |
| Erp44 |
A |
C |
4: 48,205,166 (GRCm39) |
L276V |
probably benign |
Het |
| Fastkd5 |
T |
A |
2: 130,457,729 (GRCm39) |
Q287L |
probably damaging |
Het |
| Foxh1 |
T |
A |
15: 76,553,460 (GRCm39) |
H114L |
possibly damaging |
Het |
| Fry |
A |
T |
5: 150,292,984 (GRCm39) |
L410F |
probably damaging |
Het |
| Gamt |
T |
A |
10: 80,095,672 (GRCm39) |
H86L |
probably damaging |
Het |
| Gdpd5 |
G |
T |
7: 99,104,241 (GRCm39) |
R483L |
probably benign |
Het |
| Gm17067 |
A |
C |
7: 42,357,569 (GRCm39) |
V311G |
probably benign |
Het |
| Gpatch2 |
C |
T |
1: 187,054,542 (GRCm39) |
T422I |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 33,901,879 (GRCm39) |
I546T |
probably damaging |
Het |
| Gyg1 |
A |
C |
3: 20,177,007 (GRCm39) |
S328A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,441,679 (GRCm39) |
V1491E |
probably benign |
Het |
| Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
| Ildr2 |
T |
C |
1: 166,137,038 (GRCm39) |
S626P |
probably benign |
Het |
| Insr |
T |
G |
8: 3,205,874 (GRCm39) |
E1305A |
probably benign |
Het |
| Iqca1 |
T |
A |
1: 89,998,258 (GRCm39) |
T572S |
probably benign |
Het |
| Kdm4a |
A |
T |
4: 118,003,790 (GRCm39) |
M762K |
probably benign |
Het |
| Kdm4a |
T |
A |
4: 118,017,399 (GRCm39) |
T556S |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,024,170 (GRCm39) |
I89M |
|
Het |
| Larp7 |
T |
C |
3: 127,334,211 (GRCm39) |
K539E |
probably damaging |
Het |
| Mmadhc |
C |
A |
2: 50,186,482 (GRCm39) |
|
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,567,114 (GRCm39) |
D478G |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,578,538 (GRCm39) |
Q222R |
probably benign |
Het |
| Nlgn1 |
A |
T |
3: 25,488,182 (GRCm39) |
Y718N |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,107,576 (GRCm39) |
E83V |
probably benign |
Het |
| Odc1 |
T |
C |
12: 17,598,614 (GRCm39) |
V218A |
possibly damaging |
Het |
| Or10al4 |
A |
T |
17: 38,037,796 (GRCm39) |
I294F |
probably damaging |
Het |
| Or11g26 |
G |
C |
14: 50,753,552 (GRCm39) |
R297T |
probably damaging |
Het |
| Or9r3 |
A |
G |
10: 129,948,029 (GRCm39) |
I210T |
probably damaging |
Het |
| Oxsr1 |
G |
A |
9: 119,083,932 (GRCm39) |
S324F |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,731,788 (GRCm39) |
T304M |
|
Het |
| Pgghg |
A |
G |
7: 140,526,743 (GRCm39) |
R687G |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,228,044 (GRCm39) |
S521P |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,839,917 (GRCm39) |
S172G |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,255,450 (GRCm39) |
D78G |
probably damaging |
Het |
| Sec1 |
G |
T |
7: 45,328,556 (GRCm39) |
R164S |
probably benign |
Het |
| Sesn3 |
A |
G |
9: 14,225,999 (GRCm39) |
N245D |
probably benign |
Het |
| Slc44a5 |
T |
A |
3: 153,953,370 (GRCm39) |
W251R |
possibly damaging |
Het |
| Ssr2 |
T |
C |
3: 88,487,206 (GRCm39) |
V7A |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,151,875 (GRCm39) |
D1912G |
possibly damaging |
Het |
| Tcea2 |
C |
A |
2: 181,322,984 (GRCm39) |
T1N |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,836,018 (GRCm39) |
Y697C |
probably damaging |
Het |
| Tmx4 |
T |
C |
2: 134,481,588 (GRCm39) |
M112V |
probably benign |
Het |
| Tom1 |
G |
T |
8: 75,785,495 (GRCm39) |
A330S |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,765,616 (GRCm39) |
L361* |
probably null |
Het |
| Trmt9b |
T |
C |
8: 36,979,210 (GRCm39) |
I271T |
probably benign |
Het |
| Trp73 |
T |
G |
4: 154,165,788 (GRCm39) |
T142P |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,634,498 (GRCm39) |
D683V |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,667,562 (GRCm39) |
I810V |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,524,944 (GRCm39) |
S995R |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,608,269 (GRCm39) |
E17885* |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,256,312 (GRCm39) |
Y1120N |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 72,104,882 (GRCm39) |
N793K |
probably damaging |
Het |
| Vcf1 |
T |
C |
11: 113,568,146 (GRCm39) |
D103G |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,884 (GRCm39) |
H802R |
probably benign |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,171 (GRCm39) |
C743R |
probably damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,524,750 (GRCm39) |
M190K |
probably benign |
Het |
| Zfp719 |
A |
T |
7: 43,233,602 (GRCm39) |
N7I |
possibly damaging |
Het |
| Zfp735 |
A |
G |
11: 73,580,600 (GRCm39) |
Y33C |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,355,251 (GRCm39) |
T159I |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,760,651 (GRCm39) |
T1325S |
probably benign |
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 |
|
|
|
R9641:Cfap74
|
UTSW |
4 |
155,549,054 (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'- GGTGAGCTAACTAACACACTGC -3'
(R):5'- CTGCCAAGAAGGACCAGATG -3'
Sequencing Primer
(F):5'- ACTGCCAGGAACCACAGGG -3'
(R):5'- AGGGACTCGTATGGACCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation