Incidental Mutation 'R8680:Cfap44'
ID 661715
Institutional Source Beutler Lab
Gene Symbol Cfap44
Ensembl Gene ENSMUSG00000071550
Gene Name cilia and flagella associated protein 44
Synonyms Wdr52, 6330444M21Rik, D16Ertd642e
MMRRC Submission 068535-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8680 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 44215159-44302791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44225085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 110 (V110E)
Ref Sequence ENSEMBL: ENSMUSP00000097331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099742] [ENSMUST00000120049] [ENSMUST00000147988]
AlphaFold E9Q5M6
Predicted Effect probably damaging
Transcript: ENSMUST00000099742
AA Change: V110E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: V110E

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: V110E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: V110E

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: ENSMUST00000147988
AA Change: V110E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.6%
Validation Efficiency 99% (78/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,551 (GRCm39) Y195C probably damaging Het
Abcb1a T A 5: 8,735,371 (GRCm39) F159L probably damaging Het
Adam6b A G 12: 113,454,371 (GRCm39) N396S probably benign Het
Adamts15 T C 9: 30,823,055 (GRCm39) M338V possibly damaging Het
Adamts7 T A 9: 90,077,321 (GRCm39) H1329Q probably damaging Het
Aim2 C T 1: 173,289,786 (GRCm39) P243L probably damaging Het
Ankdd1a T C 9: 65,412,418 (GRCm39) D311G probably damaging Het
Apon A T 10: 128,090,428 (GRCm39) E35D probably benign Het
Atp1a4 T C 1: 172,078,566 (GRCm39) D224G probably damaging Het
Atp6v0a1 T A 11: 100,953,229 (GRCm39) *839R probably null Het
Bco2 A G 9: 50,461,878 (GRCm39) L42P probably damaging Het
Bicral T A 17: 47,141,873 (GRCm39) probably benign Het
Ccna1 T C 3: 54,955,878 (GRCm39) Q306R probably benign Het
Cep152 G T 2: 125,406,131 (GRCm39) S1467* probably null Het
Clip2 G A 5: 134,531,462 (GRCm39) A781V probably benign Het
Cps1 A T 1: 67,243,772 (GRCm39) I1083F probably damaging Het
Cux1 A G 5: 136,336,710 (GRCm39) V934A possibly damaging Het
Depdc5 T C 5: 33,101,382 (GRCm39) F891L possibly damaging Het
Dnai7 T A 6: 145,127,542 (GRCm39) I456F probably benign Het
Dnajc13 A G 9: 104,057,338 (GRCm39) V1554A probably benign Het
Echs1 A T 7: 139,690,499 (GRCm39) M191K probably damaging Het
Eif6 T A 2: 155,664,772 (GRCm39) D238V probably benign Het
Fat2 G A 11: 55,144,692 (GRCm39) L4061F probably benign Het
Fat3 T C 9: 15,908,703 (GRCm39) D2433G probably damaging Het
Flt3 A G 5: 147,320,265 (GRCm39) V33A probably benign Het
Garin2 TGATGTCACAGATGTCAC TGATGTCAC 12: 78,762,057 (GRCm39) probably benign Het
Gpr155 T C 2: 73,174,039 (GRCm39) E790G probably damaging Het
Ighv1-67 A T 12: 115,567,861 (GRCm39) V17E probably damaging Het
Klra9 T A 6: 130,165,639 (GRCm39) R125S probably damaging Het
Leo1 T C 9: 75,353,277 (GRCm39) probably null Het
Map2 G T 1: 66,460,872 (GRCm39) R1556L probably damaging Het
Megf8 A G 7: 25,059,166 (GRCm39) probably null Het
Meikin T C 11: 54,317,477 (GRCm39) I426T possibly damaging Het
Muc16 A T 9: 18,556,015 (GRCm39) V3426E unknown Het
Or4a15 T A 2: 89,193,065 (GRCm39) Y236F probably benign Het
Or51af1 G A 7: 103,142,029 (GRCm39) L19F probably damaging Het
Or52n2c A G 7: 104,574,620 (GRCm39) L117P probably damaging Het
Or7e168 T G 9: 19,720,105 (GRCm39) S164A possibly damaging Het
Or8k25 T C 2: 86,243,935 (GRCm39) I154V probably benign Het
Or9s13 T C 1: 92,547,643 (GRCm39) V5A probably benign Het
Otogl A G 10: 107,747,936 (GRCm39) probably null Het
Palm3 T C 8: 84,756,504 (GRCm39) L672P probably damaging Het
Perm1 A G 4: 156,302,091 (GRCm39) T212A probably benign Het
Poc1a T C 9: 106,226,960 (GRCm39) M400T probably benign Het
Pou6f2 T A 13: 18,414,196 (GRCm39) Q193L unknown Het
Ppl C T 16: 4,905,300 (GRCm39) R1665H probably benign Het
Ppp4r3b T C 11: 29,123,449 (GRCm39) probably null Het
Ptger1 T C 8: 84,394,654 (GRCm39) S44P probably damaging Het
Pzp T C 6: 128,473,009 (GRCm39) T787A probably benign Het
Rab44 A T 17: 29,358,642 (GRCm39) R277* probably null Het
Rasgef1a T A 6: 118,064,088 (GRCm39) I334K probably damaging Het
Rfx1 T C 8: 84,818,084 (GRCm39) V554A possibly damaging Het
Ripk1 T A 13: 34,214,032 (GRCm39) I518K possibly damaging Het
Rpl22 A G 4: 152,416,763 (GRCm39) Y90C probably damaging Het
Rps27a C A 11: 29,495,998 (GRCm39) R118L probably benign Het
Scmh1 T A 4: 120,319,331 (GRCm39) S19T probably benign Het
Scn10a C T 9: 119,520,509 (GRCm39) probably null Het
Sema4c A T 1: 36,589,867 (GRCm39) S496T probably benign Het
Serpina3i T C 12: 104,231,387 (GRCm39) V8A possibly damaging Het
Sis G A 3: 72,867,628 (GRCm39) T139M probably damaging Het
Skic3 A T 13: 76,303,587 (GRCm39) H1227L probably benign Het
Slc45a2 T A 15: 11,000,972 (GRCm39) S24T probably benign Het
Slc5a11 A G 7: 122,866,975 (GRCm39) I423M probably benign Het
Slc7a10 G A 7: 34,885,997 (GRCm39) G31S probably benign Het
Sowahc A G 10: 59,059,001 (GRCm39) N379S probably benign Het
Stat5a T C 11: 100,774,714 (GRCm39) M741T unknown Het
Tcf15 T C 2: 151,986,020 (GRCm39) S159P probably benign Het
Tdrd5 C A 1: 156,098,788 (GRCm39) R669L possibly damaging Het
Tln1 T C 4: 43,553,041 (GRCm39) E350G possibly damaging Het
Trim12c T G 7: 103,997,271 (GRCm39) N95T Het
Urb1 T C 16: 90,571,513 (GRCm39) T1099A probably benign Het
Vmn1r44 T A 6: 89,870,578 (GRCm39) V108D probably damaging Het
Vmn2r65 A G 7: 84,589,388 (GRCm39) Y843H probably benign Het
Vmn2r68 A G 7: 84,871,321 (GRCm39) I654T possibly damaging Het
Vps13a T C 19: 16,623,270 (GRCm39) N2797S possibly damaging Het
Wscd2 T C 5: 113,712,235 (GRCm39) Y385H probably damaging Het
Xdh T C 17: 74,229,500 (GRCm39) I318V probably benign Het
Xrcc3 T A 12: 111,774,313 (GRCm39) K172M probably damaging 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
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
R9336:Cfap44 UTSW 16 44,242,807 (GRCm39) missense probably damaging 0.97
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'- TGTCCTTAACTTCGGGCACG -3'
(R):5'- CTTAGGTCAGCGGTTCTCAG -3'

Sequencing Primer
(F):5'- GGCCTTCCTCCCTTTGTGAAATATG -3'
(R):5'- CCCTCCCGCGTTATAAAT -3'
Posted On 2021-03-08