Incidental Mutation 'R8900:Cfap74'
| ID |
679892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
068757-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 155521187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 620
(E620K)
|
| 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: E620K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,045,218 (GRCm39) |
T372A |
probably benign |
Het |
| Adamts8 |
C |
A |
9: 30,865,930 (GRCm39) |
R493S |
probably benign |
Het |
| Ankrd33b |
G |
A |
15: 31,297,830 (GRCm39) |
T309I |
probably damaging |
Het |
| Arhgap22 |
G |
A |
14: 32,993,880 (GRCm39) |
W58* |
probably null |
Het |
| B4galt4 |
C |
T |
16: 38,572,404 (GRCm39) |
|
probably benign |
Het |
| Bcl2a1a |
A |
T |
9: 88,839,311 (GRCm39) |
I70L |
probably benign |
Het |
| Bst1 |
A |
G |
5: 43,977,942 (GRCm39) |
D97G |
possibly damaging |
Het |
| Cand2 |
C |
T |
6: 115,757,894 (GRCm39) |
T52M |
probably benign |
Het |
| Cd101 |
C |
A |
3: 100,926,062 (GRCm39) |
R219L |
probably benign |
Het |
| Cd5l |
T |
A |
3: 87,274,882 (GRCm39) |
D140E |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,904,197 (GRCm39) |
|
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,906 (GRCm39) |
M355V |
possibly damaging |
Het |
| Clec4a4 |
A |
G |
6: 123,000,875 (GRCm39) |
E196G |
probably damaging |
Het |
| Cpxm1 |
T |
A |
2: 130,235,360 (GRCm39) |
D544V |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,447,245 (GRCm39) |
D535E |
probably benign |
Het |
| Daw1 |
T |
G |
1: 83,175,898 (GRCm39) |
L212R |
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,135,445 (GRCm39) |
T443S |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,817,940 (GRCm39) |
D1627G |
probably damaging |
Het |
| Dohh |
A |
G |
10: 81,223,735 (GRCm39) |
I263V |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
| Dus4l |
G |
T |
12: 31,690,692 (GRCm39) |
L320I |
possibly damaging |
Het |
| Edc4 |
A |
C |
8: 106,617,857 (GRCm39) |
Q1139P |
probably damaging |
Het |
| Fam220a |
T |
A |
5: 143,549,228 (GRCm39) |
C213* |
probably null |
Het |
| Fgf14 |
A |
T |
14: 124,221,326 (GRCm39) |
Y159* |
probably null |
Het |
| Gm45861 |
A |
T |
8: 28,019,632 (GRCm39) |
D749V |
unknown |
Het |
| Hip1 |
T |
C |
5: 135,459,144 (GRCm39) |
T203A |
probably benign |
Het |
| Igfals |
A |
G |
17: 25,099,014 (GRCm39) |
D35G |
possibly damaging |
Het |
| Itga4 |
T |
A |
2: 79,145,332 (GRCm39) |
I716K |
probably damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,253,594 (GRCm39) |
I282N |
probably benign |
Het |
| Ndufb3 |
T |
C |
1: 58,634,824 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,665,023 (GRCm39) |
H399R |
probably damaging |
Het |
| Nxph1 |
T |
C |
6: 9,247,601 (GRCm39) |
S191P |
probably damaging |
Het |
| Or13c7e-ps1 |
G |
T |
4: 43,781,432 (GRCm39) |
S299R |
probably benign |
Het |
| Or1p1 |
T |
C |
11: 74,180,413 (GRCm39) |
S314P |
probably damaging |
Het |
| Pcdha11 |
T |
G |
18: 37,145,799 (GRCm39) |
I630S |
probably damaging |
Het |
| Pfkl |
C |
G |
10: 77,836,615 (GRCm39) |
G134A |
probably damaging |
Het |
| Phf19 |
A |
T |
2: 34,795,484 (GRCm39) |
C196S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,248,096 (GRCm39) |
K468R |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,310,078 (GRCm39) |
S79G |
possibly damaging |
Het |
| Pomk |
A |
G |
8: 26,473,384 (GRCm39) |
Y190H |
possibly damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,838,778 (GRCm39) |
E33D |
probably damaging |
Het |
| Raly |
A |
T |
2: 154,705,493 (GRCm39) |
I174F |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,016,882 (GRCm39) |
V549A |
possibly damaging |
Het |
| Rnf31 |
T |
G |
14: 55,833,689 (GRCm39) |
C566G |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,808,478 (GRCm39) |
W796* |
probably null |
Het |
| Sdc1 |
C |
T |
12: 8,840,460 (GRCm39) |
T79I |
possibly damaging |
Het |
| Sema6a |
T |
G |
18: 47,424,182 (GRCm39) |
E242A |
probably damaging |
Het |
| Slc22a30 |
A |
C |
19: 8,315,340 (GRCm39) |
M430R |
probably damaging |
Het |
| Sp9 |
C |
A |
2: 73,103,863 (GRCm39) |
T139K |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,327 (GRCm39) |
D29G |
probably benign |
Het |
| Tcf4 |
T |
C |
18: 69,697,761 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,689,437 (GRCm39) |
I2050N |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,460,603 (GRCm39) |
F531I |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,855,884 (GRCm39) |
I539F |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,859,956 (GRCm39) |
D666G |
probably damaging |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,842 (GRCm39) |
S253P |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,261,924 (GRCm39) |
I402T |
probably damaging |
Het |
| Vmn2r16 |
T |
C |
5: 109,511,619 (GRCm39) |
Y609H |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,863 (GRCm39) |
M245L |
probably benign |
Het |
| Vmn2r42 |
C |
T |
7: 8,197,792 (GRCm39) |
E276K |
probably benign |
Het |
| Wdr75 |
C |
A |
1: 45,838,287 (GRCm39) |
N65K |
probably damaging |
Het |
| Zbtb47 |
A |
C |
9: 121,596,705 (GRCm39) |
K687T |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,463,924 (GRCm39) |
S1361P |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,558,708 (GRCm39) |
C396* |
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 |
|
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 |
|
|
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'- TGGGACTGCATCTGATATTCAGG -3'
(R):5'- ACTGGGATACATGTGAGGTTGTAC -3'
Sequencing Primer
(F):5'- GATATTCAGGAGAGGAAACCTTCTCC -3'
(R):5'- CCTCGGTAATCATGGTCAGAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation