Incidental Mutation 'R6527:Cfap74'
| ID |
521952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
044653-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
splice site (273 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 155506722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123952]
[ENSMUST00000151083]
|
| AlphaFold |
Q3UY96 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000050128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000094408
|
| SMART Domains |
Protein: ENSMUSP00000091975
Gene: ENSMUSG00000042233
| 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 null
Transcript: ENSMUST00000123952
|
| SMART Domains |
Protein: ENSMUSP00000131899
Gene: ENSMUSG00000078490
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145520
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151083
AA Change: D151G
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: D151G
| 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 |
noncoding transcript
Transcript: ENSMUST00000166921
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,288 (GRCm39) |
T826A |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,076,995 (GRCm39) |
I686N |
possibly damaging |
Het |
| Abcb6 |
T |
C |
1: 75,154,132 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
A |
C |
5: 81,935,364 (GRCm39) |
E1299A |
probably damaging |
Het |
| Amd2 |
A |
C |
10: 35,586,802 (GRCm39) |
Y252D |
probably damaging |
Het |
| Dhx29 |
G |
T |
13: 113,069,076 (GRCm39) |
K135N |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,240,516 (GRCm39) |
D245V |
possibly damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,623,482 (GRCm39) |
Q83* |
probably null |
Het |
| Dsp |
T |
A |
13: 38,379,849 (GRCm39) |
L1599Q |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,125,095 (GRCm39) |
V369A |
probably benign |
Het |
| Flacc1 |
T |
C |
1: 58,731,572 (GRCm39) |
M1V |
probably null |
Het |
| Gbe1 |
T |
A |
16: 70,230,560 (GRCm39) |
|
probably null |
Het |
| Gm7298 |
A |
G |
6: 121,746,669 (GRCm39) |
K600R |
probably benign |
Het |
| Heatr4 |
C |
T |
12: 84,026,537 (GRCm39) |
G240E |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,689,589 (GRCm39) |
V651A |
possibly damaging |
Het |
| Jam3 |
C |
T |
9: 27,066,640 (GRCm39) |
R8Q |
unknown |
Het |
| Letm2 |
A |
G |
8: 26,082,522 (GRCm39) |
|
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,339 (GRCm39) |
D494G |
probably benign |
Het |
| Mast2 |
T |
C |
4: 116,172,136 (GRCm39) |
D604G |
probably damaging |
Het |
| Mif4gd |
C |
T |
11: 115,500,101 (GRCm39) |
|
probably null |
Het |
| Msr1 |
T |
C |
8: 40,077,274 (GRCm39) |
E112G |
possibly damaging |
Het |
| Mtus2 |
A |
G |
5: 148,214,408 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,753,433 (GRCm38) |
H1103R |
probably benign |
Het |
| Nudt14 |
T |
A |
12: 112,898,507 (GRCm39) |
I198F |
possibly damaging |
Het |
| Or11j4 |
T |
A |
14: 50,630,885 (GRCm39) |
L224* |
probably null |
Het |
| Or13p3 |
T |
A |
4: 118,567,045 (GRCm39) |
F147Y |
possibly damaging |
Het |
| Or1n1b |
T |
C |
2: 36,780,594 (GRCm39) |
T89A |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,129,066 (GRCm39) |
I884T |
probably benign |
Het |
| Podxl2 |
T |
C |
6: 88,819,912 (GRCm39) |
N550S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,045,949 (GRCm39) |
Y151C |
probably damaging |
Het |
| Prss42 |
T |
C |
9: 110,629,924 (GRCm39) |
V226A |
possibly damaging |
Het |
| Psmd12 |
A |
G |
11: 107,379,794 (GRCm39) |
I116V |
probably damaging |
Het |
| Psme4 |
A |
C |
11: 30,782,175 (GRCm39) |
I872L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,664,420 (GRCm39) |
V65E |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,019,473 (GRCm39) |
N700S |
possibly damaging |
Het |
| Slc15a4 |
G |
A |
5: 127,673,773 (GRCm39) |
T547M |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,932 (GRCm39) |
C268S |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,205,554 (GRCm39) |
Q794R |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,651,206 (GRCm39) |
Y434C |
probably damaging |
Het |
| Steap4 |
T |
A |
5: 8,028,502 (GRCm39) |
L360H |
probably damaging |
Het |
| Sycp1 |
A |
G |
3: 102,806,203 (GRCm39) |
V496A |
probably benign |
Het |
| Tmem161b |
T |
G |
13: 84,420,383 (GRCm39) |
M128R |
probably benign |
Het |
| Tmem59l |
T |
C |
8: 70,938,775 (GRCm39) |
E102G |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,340,247 (GRCm39) |
V457D |
probably benign |
Het |
| Tomt |
A |
G |
7: 101,549,599 (GRCm39) |
Y230H |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,080,910 (GRCm39) |
N561D |
probably damaging |
Het |
| V1ra8 |
T |
A |
6: 90,180,295 (GRCm39) |
I166K |
probably damaging |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,575 (GRCm39) |
V14A |
probably benign |
Het |
| Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,184,653 (GRCm39) |
S384C |
possibly damaging |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Zfp984 |
T |
C |
4: 147,840,381 (GRCm39) |
N157D |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,765,816 (GRCm39) |
D1448N |
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 |
|
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'- GGATCTCACCTCTGATCATCTG -3'
(R):5'- CAGCTGCTTTAACATGTCACC -3'
Sequencing Primer
(F):5'- CTGATCATCTGCTTTTGATGGAC -3'
(R):5'- TCCTAAGCATCTAGAAAGTGAAAAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation