Incidental Mutation 'R5333:Cfap74'
ID 423342
Institutional Source Beutler Lab
Gene Symbol Cfap74
Ensembl Gene ENSMUSG00000078490
Gene Name cilia and flagella associated protein 74
Synonyms 2010015L04Rik
MMRRC Submission 042915-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5333 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155493647-155551280 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155521197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 623 (D623G)
Ref Sequence ENSEMBL: ENSMUSP00000123626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151083]
AlphaFold Q3UY96
Predicted Effect noncoding transcript
Transcript: ENSMUST00000050128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000094408
SMART Domains Protein: ENSMUSP00000091975
Gene: ENSMUSG00000042233

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000151083
AA Change: D623G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: D623G

DomainStartEndE-ValueType
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: ENSMUST00000165947
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (56/58)
Allele List at MGI

All alleles(7) : Targeted(2) Gene trapped(5)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abca14 T A 7: 119,888,769 (GRCm39) Y1238* probably null Het
Abcb5 A T 12: 118,831,677 (GRCm39) V1225D probably damaging Het
Arhgef15 A G 11: 68,838,022 (GRCm39) probably benign Het
As3mt A G 19: 46,696,635 (GRCm39) R58G probably null Het
Asap1 T G 15: 63,999,263 (GRCm39) N525T possibly damaging Het
Bhmt2 A G 13: 93,807,938 (GRCm39) V50A probably benign Het
Bpnt2 A C 4: 4,767,963 (GRCm39) V271G possibly damaging Het
Ccdc180 A T 4: 45,890,935 (GRCm39) I36F possibly damaging Het
Cd209c A G 8: 3,994,976 (GRCm39) S63P probably damaging Het
Cdc37 T C 9: 21,054,457 (GRCm39) E56G possibly damaging Het
Cdkal1 T C 13: 29,510,135 (GRCm39) Y541C probably benign Het
Cenph G T 13: 100,898,280 (GRCm39) H208N probably benign Het
Cfap65 A T 1: 74,942,334 (GRCm39) L1740Q probably benign Het
Ckap4 C A 10: 84,363,474 (GRCm39) V530L probably damaging Het
Cldn13 A T 5: 134,943,869 (GRCm39) N105K probably benign Het
Ddn T C 15: 98,703,237 (GRCm39) D685G possibly damaging Het
Fdxr T C 11: 115,163,084 (GRCm39) I70V probably benign Het
Fn1 A T 1: 71,663,339 (GRCm39) Y1050N probably damaging Het
Iqcf3 A G 9: 106,430,860 (GRCm39) I96T possibly damaging Het
Itgax A G 7: 127,741,455 (GRCm39) Y822C probably damaging Het
Katnb1 A T 8: 95,822,234 (GRCm39) I286L possibly damaging Het
Lrp2 A C 2: 69,355,572 (GRCm39) I424R probably benign Het
Lrpprc C A 17: 85,097,821 (GRCm39) A41S probably benign Het
Mast3 A G 8: 71,236,145 (GRCm39) L761P probably benign Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mpp4 C A 1: 59,196,600 (GRCm39) R44L probably benign Het
Nalf1 T A 8: 9,820,762 (GRCm39) Q86L possibly damaging Het
Nkain3 T A 4: 20,484,889 (GRCm39) M63L probably benign Het
Nup88 A C 11: 70,835,842 (GRCm39) probably benign Het
Obscn A T 11: 58,953,518 (GRCm39) C3837S probably damaging Het
Ogdh T G 11: 6,302,126 (GRCm39) L850V probably damaging Het
Or4f17-ps1 A G 2: 111,358,048 (GRCm39) I148V probably benign Het
Or5w11 A G 2: 87,459,458 (GRCm39) Y217C probably damaging Het
Panx2 T C 15: 88,952,742 (GRCm39) I411T possibly damaging Het
Papss1 T A 3: 131,348,805 (GRCm39) M585K probably damaging Het
Pcbp2 T G 15: 102,394,456 (GRCm39) L180R possibly damaging Het
Pcdha7 A T 18: 37,107,619 (GRCm39) T215S probably benign Het
Pcdhga4 C T 18: 37,818,477 (GRCm39) R9C probably benign Het
Plin4 A G 17: 56,411,970 (GRCm39) V687A probably benign Het
Potefam1 A T 2: 111,024,682 (GRCm39) Y61N possibly damaging Het
Psma6 A G 12: 55,454,213 (GRCm39) probably benign Het
Rcn1 A T 2: 105,219,471 (GRCm39) S241T probably benign Het
Scgb2b18 A T 7: 32,872,700 (GRCm39) L35H probably damaging Het
Slc11a1 A C 1: 74,423,304 (GRCm39) D385A probably damaging Het
Stk31 T A 6: 49,446,086 (GRCm39) C930S probably benign Het
Syt10 T A 15: 89,725,932 (GRCm39) Q14L probably benign Het
Tnxb T G 17: 34,909,205 (GRCm39) W1578G probably damaging Het
Triml1 C T 8: 43,583,327 (GRCm39) A425T possibly damaging Het
Vil1 G A 1: 74,471,549 (GRCm39) V777I probably benign Het
Vmn1r175 T C 7: 23,508,004 (GRCm39) I208V possibly damaging Het
Other mutations in Cfap74
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGCATCTGATATTCAGGAGAGG -3'
(R):5'- GCGAGGTTGTACTGGGATAC -3'

Sequencing Primer
(F):5'- GATATTCAGGAGAGGAAACCTTCTCC -3'
(R):5'- CTGTCCTCGGTAATCATGGTCAGAG -3'
Posted On 2016-08-04