Incidental Mutation 'R9797:Cfap74'
| ID |
734985 |
| 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 # |
R9797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 155514402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 546
(C546Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151083]
|
| AlphaFold |
Q3UY96 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: C546Y
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
A |
G |
5: 26,054,895 (GRCm39) |
Y403C |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,066,562 (GRCm39) |
I600V |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,333,278 (GRCm39) |
E52K |
possibly damaging |
Het |
| Alas1 |
A |
G |
9: 106,113,842 (GRCm39) |
S468P |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,133,491 (GRCm39) |
T432A |
probably benign |
Het |
| B3glct |
A |
T |
5: 149,650,304 (GRCm39) |
T136S |
probably benign |
Het |
| Bahcc1 |
A |
T |
11: 120,159,147 (GRCm39) |
R125* |
probably null |
Het |
| Brat1 |
A |
G |
5: 140,704,273 (GRCm39) |
E842G |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,508,287 (GRCm39) |
L1830S |
probably damaging |
Het |
| Cd109 |
A |
G |
9: 78,579,217 (GRCm39) |
N620D |
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,803,462 (GRCm39) |
D538V |
probably damaging |
Het |
| Colq |
T |
A |
14: 31,250,777 (GRCm39) |
R343* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,358,187 (GRCm39) |
K330R |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,233,316 (GRCm39) |
K225R |
probably benign |
Het |
| Dnase1l3 |
C |
T |
14: 7,984,127 (GRCm38) |
S95N |
probably damaging |
Het |
| Fyco1 |
C |
A |
9: 123,626,761 (GRCm39) |
A1317S |
probably benign |
Het |
| Gm9195 |
G |
A |
14: 72,687,705 (GRCm39) |
P1944L |
probably damaging |
Het |
| Gse1 |
T |
G |
8: 121,215,864 (GRCm39) |
L4R |
probably damaging |
Het |
| Gstm1 |
T |
C |
3: 107,925,080 (GRCm39) |
I4M |
probably benign |
Het |
| Ighv2-3 |
A |
T |
12: 113,574,945 (GRCm39) |
I70K |
possibly damaging |
Het |
| Krt71 |
C |
T |
15: 101,645,069 (GRCm39) |
R414H |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,317,696 (GRCm39) |
E183G |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,880,144 (GRCm39) |
S1079P |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,545,591 (GRCm39) |
I125V |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,494,962 (GRCm39) |
V418E |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,725 (GRCm39) |
T517A |
probably damaging |
Het |
| Mx1 |
A |
G |
16: 97,252,893 (GRCm39) |
V409A |
probably benign |
Het |
| Olfml1 |
C |
A |
7: 107,167,069 (GRCm39) |
H33N |
probably benign |
Het |
| Or13p8 |
A |
C |
4: 118,584,079 (GRCm39) |
I212L |
probably benign |
Het |
| Or4k15b |
A |
T |
14: 50,272,224 (GRCm39) |
V212D |
probably benign |
Het |
| Or5w19 |
A |
T |
2: 87,698,478 (GRCm39) |
I48F |
possibly damaging |
Het |
| Or6k2 |
T |
C |
1: 173,986,417 (GRCm39) |
I26T |
probably benign |
Het |
| Or6n1 |
T |
A |
1: 173,917,356 (GRCm39) |
I250N |
possibly damaging |
Het |
| Parp12 |
C |
A |
6: 39,067,185 (GRCm39) |
V536F |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,514,862 (GRCm39) |
E273G |
possibly damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,818 (GRCm39) |
T468A |
possibly damaging |
Het |
| Psd3 |
A |
G |
8: 68,210,778 (GRCm39) |
Y743H |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,333,365 (GRCm39) |
I2859N |
|
Het |
| Sec23a |
A |
T |
12: 59,052,060 (GRCm39) |
C88* |
probably null |
Het |
| Sepsecs |
A |
G |
5: 52,826,239 (GRCm39) |
|
probably null |
Het |
| Slc35e3 |
G |
A |
10: 117,572,016 (GRCm39) |
T293I |
probably benign |
Het |
| Slc49a3 |
G |
T |
5: 108,593,403 (GRCm39) |
T145N |
probably benign |
Het |
| Smu1 |
A |
G |
4: 40,739,538 (GRCm39) |
I424T |
possibly damaging |
Het |
| Spata16 |
T |
A |
3: 26,968,925 (GRCm39) |
I435N |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,838,015 (GRCm39) |
S156P |
probably benign |
Het |
| Tmem237 |
A |
C |
1: 59,144,735 (GRCm39) |
S398A |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,828,542 (GRCm39) |
L234Q |
probably damaging |
Het |
| Ubxn11 |
C |
A |
4: 133,851,426 (GRCm39) |
T22K |
probably benign |
Het |
| Uts2r |
C |
A |
11: 121,051,518 (GRCm39) |
S127R |
probably damaging |
Het |
| Vmn1r236 |
A |
G |
17: 21,506,969 (GRCm39) |
D29G |
probably benign |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,138 (GRCm39) |
I700T |
probably damaging |
Het |
| Vmn2r87 |
T |
A |
10: 130,312,064 (GRCm39) |
T517S |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,675,022 (GRCm39) |
V1714E |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,758,950 (GRCm39) |
I1003L |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,077,109 (GRCm39) |
D1278G |
possibly damaging |
Het |
| Zfp1006 |
T |
A |
8: 129,946,534 (GRCm39) |
H97L |
probably benign |
Het |
| Zfp955a |
A |
C |
17: 33,461,888 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,293,006 (GRCm39) |
T2048A |
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 |
|
|
|
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 |
|
|
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'- TGTCCTTCTCAGACCTCAAGG -3'
(R):5'- AAGACTTAGGCAGCCCATCTG -3'
Sequencing Primer
(F):5'- CTCAAGGTGGGCATCATGAC -3'
(R):5'- GCCCATCTGAAAGCTTGGTCATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation