Incidental Mutation 'R9336:Cfap44'
ID 707193
Institutional Source Beutler Lab
Gene Symbol Cfap44
Ensembl Gene ENSMUSG00000071550
Gene Name cilia and flagella associated protein 44
Synonyms Wdr52, 6330444M21Rik, D16Ertd642e
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9336 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 44215159-44302791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44242807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 737 (I737T)
Ref Sequence ENSEMBL: ENSMUSP00000097331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099742] [ENSMUST00000120049]
AlphaFold E9Q5M6
Predicted Effect probably damaging
Transcript: ENSMUST00000099742
AA Change: I737T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: I737T

DomainStartEndE-ValueType
low complexity region 42 64 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
Blast:WD40 161 201 1e-7 BLAST
WD40 204 246 4.58e1 SMART
WD40 249 288 4.62e-1 SMART
Blast:WD40 292 337 2e-15 BLAST
WD40 342 381 4.8e-2 SMART
WD40 447 486 4.95e-4 SMART
WD40 491 532 2.64e2 SMART
WD40 552 591 2.98e-7 SMART
Blast:WD40 595 634 1e-19 BLAST
coiled coil region 669 711 N/A INTRINSIC
WD40 780 820 3.82e1 SMART
WD40 830 872 2.4e-2 SMART
coiled coil region 907 955 N/A INTRINSIC
coiled coil region 1101 1122 N/A INTRINSIC
low complexity region 1266 1295 N/A INTRINSIC
low complexity region 1312 1325 N/A INTRINSIC
coiled coil region 1402 1459 N/A INTRINSIC
low complexity region 1476 1488 N/A INTRINSIC
low complexity region 1489 1523 N/A INTRINSIC
coiled coil region 1543 1607 N/A INTRINSIC
coiled coil region 1630 1731 N/A INTRINSIC
coiled coil region 1795 1822 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120049
AA Change: I737T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: I737T

DomainStartEndE-ValueType
low complexity region 42 64 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
Blast:WD40 161 201 1e-7 BLAST
WD40 204 246 4.58e1 SMART
WD40 249 288 4.62e-1 SMART
Blast:WD40 292 337 2e-15 BLAST
WD40 342 381 4.8e-2 SMART
WD40 447 486 4.95e-4 SMART
WD40 491 532 2.64e2 SMART
WD40 552 591 2.98e-7 SMART
Blast:WD40 595 634 1e-19 BLAST
coiled coil region 669 711 N/A INTRINSIC
WD40 780 820 3.82e1 SMART
WD40 830 872 2.4e-2 SMART
coiled coil region 907 955 N/A INTRINSIC
coiled coil region 1101 1122 N/A INTRINSIC
low complexity region 1266 1295 N/A INTRINSIC
low complexity region 1312 1325 N/A INTRINSIC
coiled coil region 1402 1459 N/A INTRINSIC
low complexity region 1476 1488 N/A INTRINSIC
low complexity region 1489 1523 N/A INTRINSIC
coiled coil region 1543 1607 N/A INTRINSIC
coiled coil region 1630 1731 N/A INTRINSIC
coiled coil region 1795 1822 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by multiple sperm axonemal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik C T 4: 148,029,490 (GRCm39) R487C probably benign Het
2900026A02Rik A T 5: 113,240,966 (GRCm39) probably null Het
Adamts15 T A 9: 30,816,085 (GRCm39) T625S probably damaging Het
Adamtsl1 T C 4: 86,240,264 (GRCm39) V675A probably benign Het
Ank3 A T 10: 69,809,578 (GRCm39) T1120S probably benign Het
Armh3 A T 19: 45,945,120 (GRCm39) M277K probably damaging Het
Babam2 A T 5: 31,859,194 (GRCm39) M1L possibly damaging Het
Cadm3 G A 1: 173,168,786 (GRCm39) Q261* probably null Het
Cdc27 A T 11: 104,396,496 (GRCm39) D802E probably benign Het
Cfap206 C T 4: 34,716,494 (GRCm39) V324I probably benign Het
Chrm3 A T 13: 9,928,652 (GRCm39) I128N probably damaging Het
Cyfip1 T A 7: 55,554,189 (GRCm39) S743T probably benign Het
Ddias A G 7: 92,507,314 (GRCm39) V867A possibly damaging Het
Ddx20 G C 3: 105,585,903 (GRCm39) T814R possibly damaging Het
Dgka A T 10: 128,566,935 (GRCm39) probably null Het
Dnah9 A T 11: 65,761,775 (GRCm39) V3905E probably damaging Het
Dsg3 C A 18: 20,657,742 (GRCm39) Q271K probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
E2f3 G A 13: 30,095,239 (GRCm39) H350Y possibly damaging Het
Eif2b5 G A 16: 20,324,027 (GRCm39) D457N probably damaging Het
Erbb3 T C 10: 128,420,929 (GRCm39) T125A probably benign Het
Etv5 A C 16: 22,254,627 (GRCm39) C78G probably benign Het
Frrs1 G A 3: 116,684,582 (GRCm39) R263H probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Hivep3 A T 4: 119,952,400 (GRCm39) I239F possibly damaging Het
Ifi208 C T 1: 173,510,394 (GRCm39) T183I probably damaging Het
Ifitm2 AG A 7: 140,535,814 (GRCm39) probably null Het
Igkv1-88 T A 6: 68,839,313 (GRCm39) I100F probably damaging Het
Kmt2c T C 5: 25,614,165 (GRCm39) N185S probably benign Het
Kmt2d A C 15: 98,743,697 (GRCm39) L3821R unknown Het
Krtap22-2 T G 16: 88,807,478 (GRCm39) Y40S unknown Het
Lrrc1 A G 9: 77,349,480 (GRCm39) V362A probably damaging Het
Malsu1 T A 6: 49,061,449 (GRCm39) I171N probably damaging Het
Mark1 C T 1: 184,648,345 (GRCm39) G314S possibly damaging Het
Mib2 T C 4: 155,743,394 (GRCm39) N135S probably benign Het
Mos A T 4: 3,870,886 (GRCm39) L310Q probably damaging Het
Muc4 C T 16: 32,569,756 (GRCm39) T272I possibly damaging Het
Myo15b A G 11: 115,771,064 (GRCm39) T1654A Het
Napsa G T 7: 44,231,769 (GRCm39) G153W probably damaging Het
Nos3 A C 5: 24,584,761 (GRCm39) I722L probably benign Het
Or10z1 A T 1: 174,077,679 (GRCm39) D271E probably damaging Het
Or1p1c A T 11: 74,160,743 (GRCm39) D176V probably damaging Het
Or51h1 A T 7: 102,308,199 (GRCm39) H57L probably damaging Het
Or5b104 A T 19: 13,072,513 (GRCm39) S166R probably benign Het
P4ha2 T A 11: 54,002,390 (GRCm39) D109E possibly damaging Het
Pappa G T 4: 65,042,918 (GRCm39) C47F unknown Het
Pbx3 T A 2: 34,261,832 (GRCm39) H34L probably benign Het
Pcca A G 14: 122,887,738 (GRCm39) T234A probably benign Het
Pcdha11 C T 18: 37,144,514 (GRCm39) R202W probably damaging Het
Pcdhga1 T G 18: 37,795,251 (GRCm39) V85G probably damaging Het
Pclo A G 5: 14,726,562 (GRCm39) I1807V unknown Het
Pgm3 A T 9: 86,437,413 (GRCm39) F528Y probably benign Het
Pigz T C 16: 31,763,694 (GRCm39) Y251H probably damaging Het
Pik3c2g G T 6: 139,821,161 (GRCm39) Q687H Het
Pja2 A T 17: 64,590,432 (GRCm39) N700K unknown Het
Pkd2l2 T C 18: 34,561,158 (GRCm39) F389L probably damaging Het
Plcz1 T A 6: 139,985,446 (GRCm39) T32S possibly damaging Het
Pola2 A G 19: 5,991,029 (GRCm39) V555A possibly damaging Het
Ppp4r3a A C 12: 101,015,919 (GRCm39) C541G probably benign Het
Prr15l A T 11: 96,825,599 (GRCm39) K76N probably damaging Het
Psg28 C A 7: 18,156,905 (GRCm39) K443N possibly damaging Het
Ptch2 G T 4: 116,954,197 (GRCm39) A76S probably damaging Het
Ptch2 A G 4: 116,966,776 (GRCm39) D553G possibly damaging Het
Ptprz1 T C 6: 23,000,855 (GRCm39) S982P probably benign Het
Rnd3 T C 2: 51,038,844 (GRCm39) I15V probably benign Het
Rtn3 T C 19: 7,460,328 (GRCm39) K41E unknown Het
Sap25 T C 5: 137,639,985 (GRCm39) S30P probably benign Het
Scfd2 A T 5: 74,692,006 (GRCm39) I92N probably damaging Het
Sdr16c5 T C 4: 4,016,108 (GRCm39) Y106C probably damaging Het
Sell T C 1: 163,893,177 (GRCm39) I131T probably damaging Het
Sesn3 T A 9: 14,225,850 (GRCm39) V195D probably damaging Het
Setdb2 A G 14: 59,660,816 (GRCm39) V109A unknown Het
Skint2 T C 4: 112,483,054 (GRCm39) I153T probably benign Het
Slc22a1 A G 17: 12,886,142 (GRCm39) S164P probably damaging Het
Sowahc G A 10: 59,058,305 (GRCm39) G147D probably benign Het
Strip2 G C 6: 29,931,824 (GRCm39) G456R probably benign Het
Synpo G T 18: 60,735,472 (GRCm39) R825S probably damaging Het
Tango6 A G 8: 107,415,701 (GRCm39) D174G probably benign Het
Tas1r2 T C 4: 139,389,316 (GRCm39) F433S probably damaging Het
Tas2r126 T C 6: 42,411,877 (GRCm39) S137P probably benign Het
Tbc1d15 A G 10: 115,044,866 (GRCm39) F512S probably damaging Het
Tenm3 A T 8: 48,870,115 (GRCm39) L226Q probably damaging Het
Tmod1 A G 4: 46,078,368 (GRCm39) T59A probably damaging Het
Tmprss9 T A 10: 80,730,787 (GRCm39) M771K probably benign Het
Trim29 T C 9: 43,238,350 (GRCm39) Y485H possibly damaging Het
Ttc17 T C 2: 94,189,198 (GRCm39) K144E probably benign Het
Ttc21b A G 2: 66,057,287 (GRCm39) Y562H probably benign Het
Ugt2b5 T C 5: 87,285,130 (GRCm39) H269R probably benign Het
Utp20 A G 10: 88,649,798 (GRCm39) F471L probably damaging Het
Vmn2r120 T A 17: 57,832,201 (GRCm39) D196V possibly damaging Het
Wdr72 T C 9: 74,117,292 (GRCm39) V680A probably damaging Het
Wee1 G A 7: 109,721,689 (GRCm39) G45S probably damaging Het
Zfp1006 A T 8: 129,944,149 (GRCm39) D91E unknown Het
Zfp518a G A 19: 40,901,225 (GRCm39) V385I probably benign Het
Other mutations in Cfap44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Cfap44 APN 16 44,227,767 (GRCm39) missense probably damaging 0.99
IGL00952:Cfap44 APN 16 44,241,638 (GRCm39) missense probably benign 0.33
IGL01340:Cfap44 APN 16 44,224,493 (GRCm39) missense probably damaging 1.00
IGL01530:Cfap44 APN 16 44,269,530 (GRCm39) missense probably damaging 1.00
IGL02083:Cfap44 APN 16 44,257,525 (GRCm39) missense probably damaging 1.00
IGL02088:Cfap44 APN 16 44,271,991 (GRCm39) missense possibly damaging 0.59
IGL02142:Cfap44 APN 16 44,241,507 (GRCm39) missense probably benign 0.15
IGL02311:Cfap44 APN 16 44,225,134 (GRCm39) splice site probably benign
IGL02574:Cfap44 APN 16 44,301,746 (GRCm39) missense probably damaging 1.00
IGL02893:Cfap44 APN 16 44,237,180 (GRCm39) missense probably damaging 1.00
IGL02959:Cfap44 APN 16 44,291,230 (GRCm39) splice site probably benign
IGL03291:Cfap44 APN 16 44,227,674 (GRCm39) missense possibly damaging 0.86
feldgrau UTSW 16 44,254,029 (GRCm39) nonsense probably null
I2288:Cfap44 UTSW 16 44,269,501 (GRCm39) nonsense probably null
R0023:Cfap44 UTSW 16 44,241,583 (GRCm39) missense probably benign 0.01
R0023:Cfap44 UTSW 16 44,241,583 (GRCm39) missense probably benign 0.01
R0036:Cfap44 UTSW 16 44,259,432 (GRCm39) missense possibly damaging 0.83
R0139:Cfap44 UTSW 16 44,253,785 (GRCm39) missense possibly damaging 0.90
R0145:Cfap44 UTSW 16 44,288,735 (GRCm39) missense probably damaging 1.00
R0193:Cfap44 UTSW 16 44,269,573 (GRCm39) splice site probably null
R0238:Cfap44 UTSW 16 44,242,681 (GRCm39) missense probably benign
R0238:Cfap44 UTSW 16 44,242,681 (GRCm39) missense probably benign
R0288:Cfap44 UTSW 16 44,236,257 (GRCm39) splice site probably benign
R0367:Cfap44 UTSW 16 44,253,839 (GRCm39) critical splice donor site probably null
R0452:Cfap44 UTSW 16 44,252,308 (GRCm39) missense probably benign 0.01
R0531:Cfap44 UTSW 16 44,221,789 (GRCm39) start codon destroyed probably benign 0.01
R0722:Cfap44 UTSW 16 44,225,039 (GRCm39) missense possibly damaging 0.94
R0801:Cfap44 UTSW 16 44,242,849 (GRCm39) missense probably benign 0.41
R1209:Cfap44 UTSW 16 44,242,780 (GRCm39) missense possibly damaging 0.86
R1215:Cfap44 UTSW 16 44,239,666 (GRCm39) missense probably damaging 1.00
R1385:Cfap44 UTSW 16 44,291,138 (GRCm39) missense probably damaging 1.00
R1400:Cfap44 UTSW 16 44,241,575 (GRCm39) missense probably benign 0.01
R1415:Cfap44 UTSW 16 44,301,752 (GRCm39) missense probably damaging 0.99
R1475:Cfap44 UTSW 16 44,254,175 (GRCm39) splice site probably benign
R1901:Cfap44 UTSW 16 44,242,737 (GRCm39) missense probably benign 0.00
R1902:Cfap44 UTSW 16 44,242,737 (GRCm39) missense probably benign 0.00
R1903:Cfap44 UTSW 16 44,242,737 (GRCm39) missense probably benign 0.00
R2023:Cfap44 UTSW 16 44,236,375 (GRCm39) missense probably benign 0.01
R2126:Cfap44 UTSW 16 44,230,838 (GRCm39) missense probably benign 0.40
R2147:Cfap44 UTSW 16 44,272,047 (GRCm39) missense probably benign 0.31
R2233:Cfap44 UTSW 16 44,271,888 (GRCm39) missense probably benign 0.01
R2439:Cfap44 UTSW 16 44,301,609 (GRCm39) unclassified probably benign
R3015:Cfap44 UTSW 16 44,230,832 (GRCm39) missense probably benign 0.40
R4178:Cfap44 UTSW 16 44,272,216 (GRCm39) missense possibly damaging 0.81
R4421:Cfap44 UTSW 16 44,242,800 (GRCm39) missense probably damaging 1.00
R4516:Cfap44 UTSW 16 44,294,227 (GRCm39) nonsense probably null
R4742:Cfap44 UTSW 16 44,269,615 (GRCm39) splice site probably null
R4766:Cfap44 UTSW 16 44,236,246 (GRCm39) splice site probably null
R4810:Cfap44 UTSW 16 44,271,898 (GRCm39) missense probably damaging 0.99
R4955:Cfap44 UTSW 16 44,295,640 (GRCm39) missense possibly damaging 0.75
R5058:Cfap44 UTSW 16 44,240,567 (GRCm39) splice site probably null
R5164:Cfap44 UTSW 16 44,301,752 (GRCm39) missense probably damaging 0.99
R5172:Cfap44 UTSW 16 44,269,556 (GRCm39) missense probably benign
R5344:Cfap44 UTSW 16 44,236,763 (GRCm39) critical splice donor site probably null
R5519:Cfap44 UTSW 16 44,224,451 (GRCm39) missense probably damaging 1.00
R5572:Cfap44 UTSW 16 44,301,668 (GRCm39) missense possibly damaging 0.95
R5601:Cfap44 UTSW 16 44,280,549 (GRCm39) missense probably damaging 1.00
R5625:Cfap44 UTSW 16 44,280,710 (GRCm39) splice site probably null
R5638:Cfap44 UTSW 16 44,275,894 (GRCm39) missense possibly damaging 0.94
R5727:Cfap44 UTSW 16 44,255,805 (GRCm39) missense probably damaging 0.98
R5950:Cfap44 UTSW 16 44,300,210 (GRCm39) missense probably damaging 0.99
R6057:Cfap44 UTSW 16 44,269,460 (GRCm39) missense probably benign 0.03
R6063:Cfap44 UTSW 16 44,250,255 (GRCm39) missense probably benign 0.00
R6221:Cfap44 UTSW 16 44,257,549 (GRCm39) missense probably benign 0.13
R6277:Cfap44 UTSW 16 44,257,669 (GRCm39) missense probably benign 0.04
R6322:Cfap44 UTSW 16 44,254,029 (GRCm39) nonsense probably null
R6836:Cfap44 UTSW 16 44,224,442 (GRCm39) missense probably damaging 0.99
R6854:Cfap44 UTSW 16 44,269,391 (GRCm39) critical splice acceptor site probably null
R6889:Cfap44 UTSW 16 44,224,495 (GRCm39) missense probably benign 0.03
R7233:Cfap44 UTSW 16 44,242,771 (GRCm39) missense probably damaging 0.99
R7294:Cfap44 UTSW 16 44,225,256 (GRCm39) intron probably benign
R7298:Cfap44 UTSW 16 44,301,775 (GRCm39) missense probably benign 0.04
R7332:Cfap44 UTSW 16 44,250,191 (GRCm39) missense probably damaging 1.00
R7410:Cfap44 UTSW 16 44,288,776 (GRCm39) missense probably damaging 1.00
R7455:Cfap44 UTSW 16 44,225,147 (GRCm39) intron probably benign
R7456:Cfap44 UTSW 16 44,252,305 (GRCm39) missense probably benign 0.07
R7491:Cfap44 UTSW 16 44,291,111 (GRCm39) missense probably damaging 1.00
R7587:Cfap44 UTSW 16 44,224,469 (GRCm39) missense probably benign 0.02
R7698:Cfap44 UTSW 16 44,254,149 (GRCm39) missense probably damaging 0.99
R7717:Cfap44 UTSW 16 44,250,298 (GRCm39) missense probably damaging 0.97
R7953:Cfap44 UTSW 16 44,234,054 (GRCm39) missense probably benign 0.00
R7994:Cfap44 UTSW 16 44,252,501 (GRCm39) missense probably damaging 0.97
R8043:Cfap44 UTSW 16 44,234,054 (GRCm39) missense probably benign 0.00
R8238:Cfap44 UTSW 16 44,235,668 (GRCm39) splice site probably null
R8338:Cfap44 UTSW 16 44,239,698 (GRCm39) critical splice donor site probably null
R8678:Cfap44 UTSW 16 44,295,636 (GRCm39) missense probably damaging 1.00
R8680:Cfap44 UTSW 16 44,225,085 (GRCm39) missense probably damaging 0.98
R8785:Cfap44 UTSW 16 44,275,895 (GRCm39) missense probably damaging 0.99
R8922:Cfap44 UTSW 16 44,272,030 (GRCm39) missense probably benign 0.23
R9005:Cfap44 UTSW 16 44,280,517 (GRCm39) missense probably damaging 1.00
R9020:Cfap44 UTSW 16 44,257,522 (GRCm39) missense probably damaging 0.99
R9110:Cfap44 UTSW 16 44,255,923 (GRCm39) missense probably damaging 0.98
R9111:Cfap44 UTSW 16 44,252,326 (GRCm39) missense probably benign 0.00
R9126:Cfap44 UTSW 16 44,295,619 (GRCm39) missense possibly damaging 0.77
R9187:Cfap44 UTSW 16 44,225,144 (GRCm39) intron probably benign
R9194:Cfap44 UTSW 16 44,288,824 (GRCm39) missense probably damaging 1.00
R9251:Cfap44 UTSW 16 44,229,276 (GRCm39) missense probably damaging 0.99
R9334:Cfap44 UTSW 16 44,239,654 (GRCm39) missense probably damaging 0.98
V1662:Cfap44 UTSW 16 44,269,501 (GRCm39) nonsense probably null
X0060:Cfap44 UTSW 16 44,269,437 (GRCm39) missense possibly damaging 0.83
Z1088:Cfap44 UTSW 16 44,221,829 (GRCm39) missense probably damaging 0.98
Z1177:Cfap44 UTSW 16 44,252,407 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACAATCTTTGTCATGCTCACACAC -3'
(R):5'- TCTGTACAGGTGAGTTAGGCC -3'

Sequencing Primer
(F):5'- TTTGTCATGCTCACACACAAAATAAC -3'
(R):5'- TGAGTTAGGCCTTGAATGACAAC -3'
Posted On 2022-04-18