Incidental Mutation 'R6010:Cfap74'
| ID |
479698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
044187-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155538495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 872
(D872E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105619]
[ENSMUST00000151083]
|
| AlphaFold |
Q3UY96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135407
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151083
AA Change: D872E
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: D872E
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
100% (65/65) |
| 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 |
|---|
| Actl7a |
A |
G |
4: 56,743,870 (GRCm39) |
I132M |
possibly damaging |
Het |
| Agap2 |
A |
T |
10: 126,926,779 (GRCm39) |
I939F |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,623,378 (GRCm39) |
V80A |
possibly damaging |
Het |
| Atxn3 |
T |
C |
12: 101,914,285 (GRCm39) |
D67G |
probably damaging |
Het |
| Avl9 |
G |
A |
6: 56,730,375 (GRCm39) |
V573M |
possibly damaging |
Het |
| Baz1b |
G |
A |
5: 135,246,305 (GRCm39) |
E585K |
possibly damaging |
Het |
| Brms1l |
T |
C |
12: 55,914,985 (GRCm39) |
F298S |
possibly damaging |
Het |
| Camk2d |
G |
A |
3: 126,591,363 (GRCm39) |
V278I |
possibly damaging |
Het |
| Car10 |
A |
G |
11: 93,490,149 (GRCm39) |
I297V |
possibly damaging |
Het |
| Cfap65 |
C |
T |
1: 74,962,190 (GRCm39) |
C677Y |
probably damaging |
Het |
| Cgrrf1 |
A |
C |
14: 47,091,158 (GRCm39) |
Q227H |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,121,711 (GRCm39) |
I46T |
probably damaging |
Het |
| Chpf2 |
A |
T |
5: 24,796,917 (GRCm39) |
H621L |
probably damaging |
Het |
| Cluap1 |
C |
T |
16: 3,755,437 (GRCm39) |
R351W |
possibly damaging |
Het |
| Cnot6 |
A |
T |
11: 49,574,066 (GRCm39) |
Y201* |
probably null |
Het |
| Col15a1 |
T |
C |
4: 47,245,630 (GRCm39) |
V127A |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,701,219 (GRCm39) |
V2566I |
unknown |
Het |
| Cope |
T |
A |
8: 70,761,162 (GRCm39) |
M88K |
probably damaging |
Het |
| Cops4 |
A |
G |
5: 100,691,776 (GRCm39) |
I358M |
possibly damaging |
Het |
| Coro7 |
T |
C |
16: 4,487,820 (GRCm39) |
E130G |
possibly damaging |
Het |
| Csrp3 |
A |
G |
7: 48,485,213 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,701,160 (GRCm39) |
F217L |
probably damaging |
Het |
| Dmac1 |
A |
G |
4: 75,196,473 (GRCm39) |
S6P |
unknown |
Het |
| Drd4 |
A |
T |
7: 140,874,709 (GRCm39) |
I367F |
probably damaging |
Het |
| Efcc1 |
T |
A |
6: 87,730,711 (GRCm39) |
|
probably null |
Het |
| Emid1 |
A |
T |
11: 5,085,389 (GRCm39) |
M119K |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,202,596 (GRCm39) |
D1237N |
probably benign |
Het |
| Fbxl18 |
C |
A |
5: 142,858,153 (GRCm39) |
R761L |
probably damaging |
Het |
| Gbp10 |
A |
C |
5: 105,372,205 (GRCm39) |
L185R |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gucd1 |
G |
T |
10: 75,256,600 (GRCm39) |
|
probably benign |
Het |
| Helb |
G |
A |
10: 119,941,788 (GRCm39) |
T300M |
probably damaging |
Het |
| Ifna11 |
A |
T |
4: 88,738,278 (GRCm39) |
H28L |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,830,950 (GRCm39) |
N723I |
probably benign |
Het |
| Kcnb2 |
C |
T |
1: 15,780,790 (GRCm39) |
S554F |
possibly damaging |
Het |
| Med1 |
A |
C |
11: 98,049,188 (GRCm39) |
V536G |
probably damaging |
Het |
| Nanog |
A |
C |
6: 122,690,255 (GRCm39) |
N195T |
probably benign |
Het |
| Neu1 |
C |
T |
17: 35,151,031 (GRCm39) |
S94F |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,740,071 (GRCm39) |
S154R |
probably damaging |
Het |
| Npl |
A |
T |
1: 153,388,314 (GRCm39) |
L239* |
probably null |
Het |
| Nrg1 |
G |
A |
8: 32,308,600 (GRCm39) |
T483M |
probably damaging |
Het |
| Nup98 |
G |
T |
7: 101,829,636 (GRCm39) |
F391L |
probably damaging |
Het |
| Or4c122 |
A |
T |
2: 89,079,087 (GRCm39) |
I305K |
probably benign |
Het |
| Or5ar1 |
T |
C |
2: 85,671,905 (GRCm39) |
I77V |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,886 (GRCm39) |
V41E |
probably damaging |
Het |
| Or5g26 |
T |
C |
2: 85,494,374 (GRCm39) |
I135V |
probably benign |
Het |
| Pacsin2 |
A |
G |
15: 83,266,020 (GRCm39) |
V59A |
possibly damaging |
Het |
| Pcsk9 |
C |
T |
4: 106,311,469 (GRCm39) |
R254H |
possibly damaging |
Het |
| Pierce2 |
A |
T |
9: 72,887,488 (GRCm39) |
|
probably null |
Het |
| Psme2 |
C |
A |
14: 55,824,980 (GRCm39) |
|
probably null |
Het |
| Ptprc |
T |
A |
1: 138,028,794 (GRCm39) |
H468L |
probably benign |
Het |
| Rbp3 |
T |
A |
14: 33,676,604 (GRCm39) |
I184N |
probably damaging |
Het |
| Serpinb1c |
A |
G |
13: 33,066,042 (GRCm39) |
L301P |
probably damaging |
Het |
| Smim6 |
G |
T |
11: 115,804,219 (GRCm39) |
G2V |
probably damaging |
Het |
| Snrpb2 |
A |
G |
2: 142,912,815 (GRCm39) |
D146G |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,115,832 (GRCm39) |
S954C |
possibly damaging |
Het |
| Telo2 |
G |
T |
17: 25,323,852 (GRCm39) |
T568N |
possibly damaging |
Het |
| Tpp2 |
T |
C |
1: 43,990,373 (GRCm39) |
|
probably null |
Het |
| Upf1 |
A |
G |
8: 70,789,675 (GRCm39) |
V720A |
probably damaging |
Het |
| Vmn1r81 |
T |
C |
7: 11,994,349 (GRCm39) |
I86M |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,363,955 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
C |
15: 7,916,900 (GRCm39) |
|
probably null |
Het |
| Zfp385c |
A |
T |
11: 100,548,363 (GRCm39) |
S30T |
probably benign |
Het |
| Zfp607a |
T |
A |
7: 27,577,254 (GRCm39) |
L108* |
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 |
|
|
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 |
|
|
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'- GGGTTTCCTTATGTCAGTTCATAC -3'
(R):5'- CAAAGATGCTAGACCACTGGG -3'
Sequencing Primer
(F):5'- CCTTATGTCAGTTCATACATATGGC -3'
(R):5'- GATGCTAGACCACTGGGCATTATC -3'
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| Posted On |
2017-06-26 |
Incidental Mutation