Incidental Mutation 'R6323:Cfap74'
ID 510195
Institutional Source Beutler Lab
Gene Symbol Cfap74
Ensembl Gene ENSMUSG00000078490
Gene Name cilia and flagella associated protein 74
Synonyms 2010015L04Rik
MMRRC Submission 044477-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6323 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 155493647-155551280 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155548395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1342 (D1342G)
Ref Sequence ENSEMBL: ENSMUSP00000123626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105619] [ENSMUST00000151083]
AlphaFold Q3UY96
Predicted Effect probably benign
Transcript: ENSMUST00000105619
AA Change: D12G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144625
Predicted Effect possibly damaging
Transcript: ENSMUST00000151083
AA Change: D1342G

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: D1342G

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (40/41)
Allele List at MGI

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

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,436,568 (GRCm39) T171A unknown Het
Akr1c6 A G 13: 4,497,017 (GRCm39) K153R possibly damaging Het
Ano1 T A 7: 144,165,423 (GRCm39) I601F possibly damaging Het
Arfgef2 A G 2: 166,676,404 (GRCm39) Y8C probably damaging Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz2a A G 10: 127,962,286 (GRCm39) I1816V probably benign Het
Cadps2 T A 6: 23,263,577 (GRCm39) T1294S probably benign Het
Casz1 T C 4: 149,026,161 (GRCm39) S952P possibly damaging Het
Cdc20 T C 4: 118,292,761 (GRCm39) N329S probably damaging Het
Ceacam1 A C 7: 25,174,076 (GRCm39) L193R probably damaging Het
Celf5 A G 10: 81,305,337 (GRCm39) S143P probably damaging Het
Chd5 C A 4: 152,451,791 (GRCm39) T701K probably damaging Het
Cpt1b C A 15: 89,303,266 (GRCm39) M596I probably benign Het
Ctrb1 A G 8: 112,416,223 (GRCm39) V21A probably benign Het
Diaph3 C T 14: 87,203,889 (GRCm39) V579I probably benign Het
Dlc1 T C 8: 37,405,537 (GRCm39) E84G possibly damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Galns T C 8: 123,325,390 (GRCm39) D254G probably damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Gstm1 A G 3: 107,925,063 (GRCm39) V10A probably benign Het
Krt13 C A 11: 100,011,976 (GRCm39) A116S probably damaging Het
Lars2 A T 9: 123,270,659 (GRCm39) K584* probably null Het
Lrrc43 G T 5: 123,641,949 (GRCm39) G600W probably damaging Het
Madd G T 2: 90,991,783 (GRCm39) probably null Het
Mnat1 A G 12: 73,214,878 (GRCm39) D65G probably damaging Het
Nsmf A G 2: 24,945,063 (GRCm39) N42S possibly damaging Het
Or4k77 T C 2: 111,199,046 (GRCm39) L23P possibly damaging Het
Or5ac16 A G 16: 59,022,645 (GRCm39) L48P probably damaging Het
Palld A T 8: 62,173,727 (GRCm39) W311R probably damaging Het
Pax1 T A 2: 147,210,321 (GRCm39) V352E probably damaging Het
Rnf2 T C 1: 151,348,967 (GRCm39) K51R probably damaging Het
Rpl7l1 C A 17: 47,093,564 (GRCm39) probably benign Het
Slc1a6 G A 10: 78,648,721 (GRCm39) G481S probably damaging Het
Slc34a1 A G 13: 23,998,969 (GRCm39) I121V probably benign Het
Spata31h1 G A 10: 82,118,916 (GRCm39) T4698I probably benign Het
Trav6-1 T C 14: 52,876,248 (GRCm39) V56A possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r79 T A 7: 86,650,522 (GRCm39) C103S probably benign Het
Wwp2 A T 8: 108,267,303 (GRCm39) H305L probably damaging Het
Zfp593 A G 4: 133,972,224 (GRCm39) V94A probably benign 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
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
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'- AGACTCCAGCTCTTGCCAAC -3'
(R):5'- GTGACTCCAGTGTGATTCCC -3'

Sequencing Primer
(F):5'- GCAGAGATCTCCAGGCTATCTCTG -3'
(R):5'- AGTGTGATTCCCCAACCAGCTG -3'
Posted On 2018-04-02