Incidental Mutation 'R7315:Cfap74'
| ID |
567872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
045368-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155547476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1221
(Y1221H)
|
| 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 |
unknown
Transcript: ENSMUST00000151083
AA Change: Y1221H
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: Y1221H
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
C |
7: 119,893,341 (GRCm39) |
I1264L |
probably benign |
Het |
| Abcg8 |
C |
A |
17: 85,004,142 (GRCm39) |
D484E |
probably damaging |
Het |
| Abhd13 |
T |
A |
8: 10,037,970 (GRCm39) |
L189H |
probably damaging |
Het |
| Acox2 |
T |
C |
14: 8,256,139 (GRCm38) |
D60G |
probably damaging |
Het |
| Acp3 |
A |
G |
9: 104,193,423 (GRCm39) |
|
probably null |
Het |
| Agpat4 |
C |
T |
17: 12,429,185 (GRCm39) |
R146C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,793,504 (GRCm39) |
S411P |
unknown |
Het |
| B4galt5 |
A |
G |
2: 167,143,296 (GRCm39) |
V376A |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,344,041 (GRCm39) |
Y198C |
probably damaging |
Het |
| Cd1d1 |
C |
T |
3: 86,905,420 (GRCm39) |
R191H |
possibly damaging |
Het |
| Cd93 |
A |
G |
2: 148,284,461 (GRCm39) |
V295A |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,406,270 (GRCm39) |
T615I |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,137,625 (GRCm39) |
S896N |
possibly damaging |
Het |
| Crppa |
A |
G |
12: 36,440,373 (GRCm39) |
T94A |
probably benign |
Het |
| Cst7 |
C |
A |
2: 150,412,503 (GRCm39) |
P22Q |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,061,743 (GRCm39) |
A2781T |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,656,423 (GRCm39) |
A1588T |
probably benign |
Het |
| Dsg2 |
A |
T |
18: 20,712,217 (GRCm39) |
I118F |
probably damaging |
Het |
| Eif1ad2 |
A |
G |
12: 87,786,473 (GRCm39) |
E128G |
unknown |
Het |
| Eme2 |
G |
A |
17: 25,113,840 (GRCm39) |
R62W |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,372,972 (GRCm39) |
D910E |
probably benign |
Het |
| Ext1 |
T |
C |
15: 52,936,783 (GRCm39) |
D654G |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,413,512 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
A |
3: 88,802,486 (GRCm39) |
H1032Q |
probably benign |
Het |
| Kitl |
G |
A |
10: 99,851,974 (GRCm39) |
R31H |
unknown |
Het |
| Lcp2 |
G |
A |
11: 34,019,906 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,322,166 (GRCm39) |
H1921R |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,010,051 (GRCm39) |
T400A |
probably benign |
Het |
| Mak16 |
G |
A |
8: 31,654,766 (GRCm39) |
R143* |
probably null |
Het |
| Mettl23 |
A |
G |
11: 116,739,928 (GRCm39) |
I159V |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,005,036 (GRCm39) |
N335D |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,276,645 (GRCm39) |
C12R |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,387,892 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
G |
7: 49,198,037 (GRCm39) |
N33S |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
| Nmt1 |
A |
G |
11: 102,951,009 (GRCm39) |
N367D |
probably benign |
Het |
| Noc2l |
T |
G |
4: 156,325,817 (GRCm39) |
S354R |
probably damaging |
Het |
| Opn1sw |
A |
T |
6: 29,379,362 (GRCm39) |
I214N |
probably damaging |
Het |
| Or12d14-ps1 |
G |
T |
17: 37,673,551 (GRCm39) |
C181F |
probably damaging |
Het |
| Or13e8 |
T |
A |
4: 43,696,961 (GRCm39) |
I71F |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,445 (GRCm39) |
S192P |
probably damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,004 (GRCm39) |
V113A |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,496 (GRCm39) |
F98L |
probably benign |
Het |
| Or7e169 |
G |
T |
9: 19,757,131 (GRCm39) |
S261R |
probably damaging |
Het |
| Or8a1 |
T |
C |
9: 37,641,872 (GRCm39) |
M136V |
probably benign |
Het |
| Or8b9 |
A |
T |
9: 37,766,543 (GRCm39) |
Y143F |
probably benign |
Het |
| Papss2 |
T |
C |
19: 32,616,625 (GRCm39) |
V217A |
possibly damaging |
Het |
| Pes1 |
A |
G |
11: 3,926,085 (GRCm39) |
I291M |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,198,284 (GRCm39) |
I1660N |
possibly damaging |
Het |
| Rapgef1 |
C |
A |
2: 29,624,504 (GRCm39) |
T1030K |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,477 (GRCm39) |
M268V |
probably benign |
Het |
| Rbl2 |
A |
T |
8: 91,802,640 (GRCm39) |
T154S |
probably damaging |
Het |
| Rgs1 |
A |
G |
1: 144,124,637 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
C |
T |
14: 52,358,458 (GRCm39) |
T188I |
not run |
Het |
| Rrp1b |
T |
A |
17: 32,277,545 (GRCm39) |
F608L |
probably benign |
Het |
| Sbp |
C |
T |
17: 24,164,280 (GRCm39) |
A154V |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,889 (GRCm39) |
E243K |
probably damaging |
Het |
| Serpinb6b |
A |
T |
13: 33,156,240 (GRCm39) |
D110V |
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,060,145 (GRCm39) |
D875V |
probably benign |
Het |
| Slc2a4 |
G |
C |
11: 69,837,259 (GRCm39) |
T59R |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,247,310 (GRCm39) |
S462P |
probably damaging |
Het |
| Slc66a1 |
G |
A |
4: 139,029,181 (GRCm39) |
T101M |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,862,720 (GRCm39) |
|
probably null |
Het |
| Steap3 |
A |
G |
1: 120,155,642 (GRCm39) |
V439A |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,698,541 (GRCm39) |
D268N |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,214,395 (GRCm39) |
T422I |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,807,849 (GRCm39) |
N242S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,071,544 (GRCm39) |
T2364A |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,938,806 (GRCm39) |
H365Q |
possibly damaging |
Het |
| Tnrc6c |
T |
G |
11: 117,614,354 (GRCm39) |
N837K |
probably benign |
Het |
| Trim67 |
T |
A |
8: 125,521,069 (GRCm39) |
S144T |
probably benign |
Het |
| Zc3hav1l |
T |
G |
6: 38,272,082 (GRCm39) |
D229A |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,776,385 (GRCm39) |
V1184E |
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 |
|
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 |
|
|
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'- TGCCAGTGGTGACATCAAAG -3'
(R):5'- CAACAGCAAGGTCAGGATGC -3'
Sequencing Primer
(F):5'- CAGGAAGACAGCGGAACCTCTG -3'
(R):5'- TCAGGATGCAGACGGTGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation