Incidental Mutation 'R0306:Cfap74'
| ID |
35793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
038517-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0306 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 155549896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023920]
[ENSMUST00000105619]
[ENSMUST00000151083]
[ENSMUST00000178238]
[ENSMUST00000178188]
|
| AlphaFold |
Q3UY96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023920
|
| SMART Domains |
Protein: ENSMUSP00000023920
Gene: ENSMUSG00000023153
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:TMEM52
|
29 |
182 |
6.3e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151083
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
| 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 benign
Transcript: ENSMUST00000178238
|
| SMART Domains |
Protein: ENSMUSP00000136919
Gene: ENSMUSG00000023153
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:TMEM52
|
30 |
184 |
6.2e-73 |
PFAM |
|
low complexity region
|
185 |
197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178188
|
| SMART Domains |
Protein: ENSMUSP00000136899
Gene: ENSMUSG00000023153
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:TMEM52
|
35 |
168 |
1.1e-68 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
94% (61/65) |
| 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 |
|---|
| Aoc1l1 |
T |
C |
6: 48,953,020 (GRCm39) |
V315A |
probably damaging |
Het |
| BC028528 |
C |
T |
3: 95,797,132 (GRCm39) |
|
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,394 (GRCm39) |
F329S |
probably damaging |
Het |
| Cd209a |
A |
G |
8: 3,795,535 (GRCm39) |
Y120H |
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,003,172 (GRCm39) |
|
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,896 (GRCm39) |
N58D |
probably benign |
Het |
| Chst8 |
T |
C |
7: 34,374,723 (GRCm39) |
E372G |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,209,373 (GRCm39) |
V270A |
probably damaging |
Het |
| Ddx49 |
A |
G |
8: 70,747,322 (GRCm39) |
|
probably benign |
Het |
| Ddx52 |
G |
T |
11: 83,835,474 (GRCm39) |
L133F |
probably benign |
Het |
| Defb26 |
T |
A |
2: 152,349,888 (GRCm39) |
I131F |
unknown |
Het |
| Dip2c |
T |
A |
13: 9,654,635 (GRCm39) |
S719T |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,916,096 (GRCm39) |
S94G |
possibly damaging |
Het |
| Dytn |
G |
A |
1: 63,724,272 (GRCm39) |
P3S |
possibly damaging |
Het |
| Fmn2 |
T |
C |
1: 174,437,050 (GRCm39) |
|
probably benign |
Het |
| Gal3st1 |
T |
A |
11: 3,948,546 (GRCm39) |
L251Q |
probably damaging |
Het |
| Gm19684 |
A |
T |
17: 36,438,300 (GRCm39) |
|
probably benign |
Het |
| Il15 |
T |
A |
8: 83,061,083 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
C |
T |
2: 136,927,855 (GRCm39) |
G852D |
probably damaging |
Het |
| Kbtbd4 |
A |
G |
2: 90,744,530 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
C |
A |
18: 34,937,070 (GRCm39) |
Q451K |
probably benign |
Het |
| Lrfn2 |
A |
T |
17: 49,403,283 (GRCm39) |
I469F |
probably damaging |
Het |
| Mep1a |
A |
T |
17: 43,813,534 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,944,986 (GRCm39) |
F70S |
probably damaging |
Het |
| Nav2 |
C |
A |
7: 49,195,651 (GRCm39) |
P1009Q |
probably benign |
Het |
| Noc3l |
T |
C |
19: 38,796,094 (GRCm39) |
Y334C |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,910,019 (GRCm39) |
Y180* |
probably null |
Het |
| Nup210l |
T |
C |
3: 90,114,675 (GRCm39) |
I1750T |
probably benign |
Het |
| Or51s1 |
A |
T |
7: 102,559,010 (GRCm39) |
I12N |
probably benign |
Het |
| Or5p53 |
A |
T |
7: 107,532,907 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,060 (GRCm39) |
I34F |
possibly damaging |
Het |
| Parp14 |
A |
G |
16: 35,676,944 (GRCm39) |
L1008P |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,819,003 (GRCm39) |
V759A |
possibly damaging |
Het |
| Prdm10 |
C |
A |
9: 31,227,520 (GRCm39) |
Q42K |
probably damaging |
Het |
| Prkcsh |
T |
C |
9: 21,917,822 (GRCm39) |
|
probably benign |
Het |
| Psmg1 |
A |
G |
16: 95,788,540 (GRCm39) |
C138R |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,179,893 (GRCm39) |
M1437T |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,606,000 (GRCm39) |
|
probably null |
Het |
| Serpinf1 |
T |
C |
11: 75,304,761 (GRCm39) |
Y200C |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,881,167 (GRCm39) |
H130R |
probably damaging |
Het |
| Slc22a1 |
A |
G |
17: 12,881,485 (GRCm39) |
F335L |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,975,638 (GRCm39) |
N683S |
probably damaging |
Het |
| Slc9a9 |
A |
T |
9: 95,019,987 (GRCm39) |
T519S |
probably benign |
Het |
| Smarca2 |
T |
A |
19: 26,618,013 (GRCm39) |
L348Q |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,332,855 (GRCm39) |
D521G |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Srp19 |
T |
C |
18: 34,467,629 (GRCm39) |
|
probably benign |
Het |
| Stk35 |
T |
A |
2: 129,643,683 (GRCm39) |
Y222* |
probably null |
Het |
| Syt10 |
T |
G |
15: 89,711,191 (GRCm39) |
K114T |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,478,180 (GRCm39) |
V662A |
probably benign |
Het |
| Ttll4 |
G |
A |
1: 74,735,916 (GRCm39) |
R1066Q |
probably benign |
Het |
| Tulp2 |
C |
T |
7: 45,168,000 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,066,895 (GRCm39) |
I28K |
possibly damaging |
Het |
| Vmn2r118 |
A |
C |
17: 55,915,616 (GRCm39) |
F445V |
possibly damaging |
Het |
| Zfp142 |
C |
T |
1: 74,609,341 (GRCm39) |
E1485K |
probably damaging |
Het |
| Zfp819 |
C |
A |
7: 43,266,621 (GRCm39) |
A292E |
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 |
|
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 |
|
|
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'- ATGCCTCAAGCAGCCTCAGTTC -3'
(R):5'- ATTGTTCAGGGTGGCACCACAGAG -3'
Sequencing Primer
(F):5'- CAATTGTCAAGCTTCAGGGC -3'
(R):5'- GAGGGTGAACCTGGAGCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation