Incidental Mutation 'R9655:Cfap74'
| ID |
735446 |
| 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 # |
R9655 (G1)
|
| Quality Score |
182.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155522665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 684
(I684F)
|
| 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: I684F
| 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: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
A |
7: 130,740,695 (GRCm39) |
I174F |
possibly damaging |
Het |
| Ada |
C |
A |
2: 163,574,270 (GRCm39) |
V129F |
probably damaging |
Het |
| Adgrl4 |
G |
T |
3: 151,248,450 (GRCm39) |
M707I |
probably damaging |
Het |
| Ahcyl |
A |
T |
16: 45,974,564 (GRCm39) |
I271N |
probably damaging |
Het |
| Arrb2 |
A |
G |
11: 70,331,073 (GRCm39) |
Q419R |
probably null |
Het |
| Atad2 |
A |
T |
15: 57,998,303 (GRCm39) |
L23Q |
probably damaging |
Het |
| Btbd2 |
A |
T |
10: 80,492,045 (GRCm39) |
F107Y |
probably benign |
Het |
| C7 |
T |
A |
15: 5,041,464 (GRCm39) |
T481S |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,867,111 (GRCm39) |
W114R |
probably damaging |
Het |
| Ccdc121 |
C |
T |
5: 31,644,976 (GRCm39) |
T243I |
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,809,153 (GRCm39) |
D39E |
possibly damaging |
Het |
| Cyp2c70 |
T |
A |
19: 40,149,121 (GRCm39) |
N342Y |
possibly damaging |
Het |
| Dnah17 |
G |
A |
11: 117,971,649 (GRCm39) |
T2128I |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,242,900 (GRCm39) |
N545S |
probably benign |
Het |
| Dnmt3c |
A |
G |
2: 153,561,914 (GRCm39) |
N539S |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,964 (GRCm39) |
E656G |
possibly damaging |
Het |
| Exd1 |
A |
T |
2: 119,350,855 (GRCm39) |
C469S |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,730 (GRCm39) |
I1402F |
probably benign |
Het |
| Fam186a |
A |
G |
15: 99,840,973 (GRCm39) |
L1757P |
probably damaging |
Het |
| Fbxo42 |
A |
T |
4: 140,895,171 (GRCm39) |
R45W |
probably damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,460,696 (GRCm39) |
V1978A |
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,618 (GRCm39) |
I124F |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,362,251 (GRCm39) |
D2173V |
possibly damaging |
Het |
| Gabbr2 |
G |
T |
4: 46,815,684 (GRCm39) |
T228K |
possibly damaging |
Het |
| Galnt9 |
A |
T |
5: 110,762,104 (GRCm39) |
Y414F |
probably damaging |
Het |
| Gask1a |
T |
A |
9: 121,794,170 (GRCm39) |
L108Q |
probably benign |
Het |
| Ggt5 |
A |
T |
10: 75,444,635 (GRCm39) |
M318L |
probably benign |
Het |
| Glod4 |
A |
C |
11: 76,125,292 (GRCm39) |
S156A |
probably benign |
Het |
| Gm5431 |
A |
T |
11: 48,785,799 (GRCm39) |
M192K |
probably benign |
Het |
| Golga5 |
C |
T |
12: 102,446,008 (GRCm39) |
S421L |
possibly damaging |
Het |
| Gpr18 |
T |
C |
14: 122,149,992 (GRCm39) |
D11G |
probably benign |
Het |
| Igf2bp3 |
C |
T |
6: 49,064,338 (GRCm39) |
V560I |
probably benign |
Het |
| Igfals |
A |
G |
17: 25,099,665 (GRCm39) |
N252S |
probably damaging |
Het |
| Ighv8-5 |
C |
T |
12: 115,031,416 (GRCm39) |
C41Y |
probably damaging |
Het |
| Iqgap3 |
T |
A |
3: 88,016,728 (GRCm39) |
V1070D |
possibly damaging |
Het |
| Kdr |
G |
A |
5: 76,122,488 (GRCm39) |
A479V |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,047,295 (GRCm39) |
L247P |
probably damaging |
Het |
| Kmt5a |
A |
G |
5: 124,589,393 (GRCm39) |
Y197C |
probably damaging |
Het |
| Krt33a |
A |
C |
11: 99,906,624 (GRCm39) |
|
probably null |
Het |
| Mageb3 |
A |
G |
2: 121,785,649 (GRCm39) |
S18P |
unknown |
Het |
| Mast1 |
T |
A |
8: 85,650,660 (GRCm39) |
Y387F |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Med17 |
C |
T |
9: 15,176,719 (GRCm39) |
V503M |
possibly damaging |
Het |
| Mpp3 |
A |
G |
11: 101,899,481 (GRCm39) |
C347R |
probably benign |
Het |
| Mtr |
A |
G |
13: 12,203,030 (GRCm39) |
L1191P |
probably damaging |
Het |
| Mybphl |
A |
T |
3: 108,282,099 (GRCm39) |
I110F |
probably damaging |
Het |
| Nkx2-1 |
T |
A |
12: 56,581,802 (GRCm39) |
D15V |
probably damaging |
Het |
| Nwd2 |
G |
A |
5: 63,964,568 (GRCm39) |
W1384* |
probably null |
Het |
| Onecut1 |
A |
G |
9: 74,770,330 (GRCm39) |
H251R |
possibly damaging |
Het |
| Or10ak8 |
T |
A |
4: 118,773,804 (GRCm39) |
N287Y |
probably damaging |
Het |
| Or13f5 |
C |
T |
4: 52,825,526 (GRCm39) |
T43I |
probably benign |
Het |
| Or51a6 |
A |
G |
7: 102,604,319 (GRCm39) |
F163S |
probably damaging |
Het |
| Or8b37 |
A |
T |
9: 37,959,387 (GRCm39) |
I290L |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,716,840 (GRCm39) |
*552W |
probably null |
Het |
| Pcdhgb2 |
A |
G |
18: 37,823,285 (GRCm39) |
E92G |
probably damaging |
Het |
| Pcdhgb5 |
G |
T |
18: 37,865,122 (GRCm39) |
E306* |
probably null |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,655,653 (GRCm39) |
L160Q |
probably damaging |
Het |
| Phxr2 |
A |
T |
10: 98,961,974 (GRCm39) |
S29T |
unknown |
Het |
| Ppargc1a |
A |
G |
5: 51,705,852 (GRCm39) |
|
probably null |
Het |
| Psmb11 |
T |
C |
14: 54,862,965 (GRCm39) |
V61A |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,908,983 (GRCm39) |
I1034F |
possibly damaging |
Het |
| Rnaset2b |
T |
A |
17: 7,259,134 (GRCm39) |
N133K |
probably damaging |
Het |
| Rtn4 |
A |
G |
11: 29,657,504 (GRCm39) |
T553A |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,373,578 (GRCm39) |
T1228S |
probably benign |
Het |
| Sdr42e2 |
A |
G |
7: 120,430,279 (GRCm39) |
T379A |
probably benign |
Het |
| Shisal2a |
C |
A |
4: 108,234,616 (GRCm39) |
V84L |
possibly damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
| Snx31 |
C |
T |
15: 36,534,582 (GRCm39) |
C197Y |
probably damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,744,567 (GRCm39) |
V353A |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,610 (GRCm39) |
D1004G |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,066,784 (GRCm39) |
Y2071* |
probably null |
Het |
| Tnni3k |
G |
A |
3: 154,645,410 (GRCm39) |
R492* |
probably null |
Het |
| Tns2 |
A |
G |
15: 102,012,933 (GRCm39) |
H7R |
probably benign |
Het |
| Top2a |
G |
T |
11: 98,905,334 (GRCm39) |
N369K |
probably damaging |
Het |
| Tpbg |
A |
T |
9: 85,726,252 (GRCm39) |
T74S |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,869,466 (GRCm39) |
N2018D |
probably benign |
Het |
| Trub2 |
A |
T |
2: 29,669,833 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
G |
4: 144,813,305 (GRCm39) |
F3324L |
|
Het |
| Wdr20rt |
A |
T |
12: 65,273,707 (GRCm39) |
Q390L |
probably benign |
Het |
| Wdr49 |
T |
A |
3: 75,240,561 (GRCm39) |
D436V |
probably damaging |
Het |
| Zfp111 |
C |
T |
7: 23,898,543 (GRCm39) |
G357D |
probably damaging |
Het |
| Zfp668 |
A |
G |
7: 127,466,113 (GRCm39) |
V357A |
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 |
|
|
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 |
|
|
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'- ATGCTGTGGCCTAATGACCC -3'
(R):5'- CCTATTCAGTATGCATCTGAGGCC -3'
Sequencing Primer
(F):5'- CTGTGGCCTAATGACCCAGGATAG -3'
(R):5'- TATGCATCTGAGGCCAAGTGTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation