Incidental Mutation 'R0145:Cfap44'
ID 22596
Institutional Source Beutler Lab
Gene Symbol Cfap44
Ensembl Gene ENSMUSG00000071550
Gene Name cilia and flagella associated protein 44
Synonyms Wdr52, 6330444M21Rik, D16Ertd642e
MMRRC Submission 038430-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0145 (G1) of strain 722
Quality Score 186
Status Validated (trace)
Chromosome 16
Chromosomal Location 44215159-44302791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44288735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1495 (D1495V)
Ref Sequence ENSEMBL: ENSMUSP00000113908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099742] [ENSMUST00000120049]
AlphaFold E9Q5M6
Predicted Effect probably damaging
Transcript: ENSMUST00000099742
AA Change: D1495V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: D1495V

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: D1495V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: D1495V

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
SMART Domains Protein: ENSMUSP00000115502
Gene: ENSMUSG00000071550
AA Change: D126V

DomainStartEndE-ValueType
coiled coil region 33 90 N/A INTRINSIC
low complexity region 108 120 N/A INTRINSIC
low complexity region 121 155 N/A INTRINSIC
coiled coil region 174 238 N/A INTRINSIC
coiled coil region 261 362 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127303
Meta Mutation Damage Score 0.0827 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 93.7%
  • 20x: 82.1%
Validation Efficiency 96% (109/113)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,437,783 (GRCm39) E64G probably damaging Het
Actr6 A T 10: 89,564,040 (GRCm39) Y77* probably null Het
Aldoart1 A T 4: 72,769,576 (GRCm39) S411T probably benign Het
Aqp1 C T 6: 55,323,672 (GRCm39) R234C probably damaging Het
Arsb G A 13: 93,998,795 (GRCm39) G368R possibly damaging Het
Asxl3 G A 18: 22,586,662 (GRCm39) A151T probably damaging Het
Bcas3 T C 11: 85,250,436 (GRCm39) probably benign Het
Bmpr2 AACACA AACA 1: 59,906,739 (GRCm39) probably null Het
Bst1 A G 5: 43,976,414 (GRCm39) Y49C probably damaging Het
Btrc T A 19: 45,411,612 (GRCm39) L12Q probably damaging Het
Cd248 T C 19: 5,119,051 (GRCm39) F300L possibly damaging Het
Cdk11b G T 4: 155,726,076 (GRCm39) probably benign Het
Cfap410 T C 10: 77,819,390 (GRCm39) S196P probably benign Het
Chil3 T A 3: 106,067,794 (GRCm39) I124F probably damaging Het
Cnot2 A T 10: 116,353,273 (GRCm39) S63T possibly damaging Het
Cox8a G T 19: 7,192,783 (GRCm39) H61N probably benign Het
Cpne9 T C 6: 113,277,562 (GRCm39) V427A probably damaging Het
Ctsll3 C A 13: 60,946,409 (GRCm39) G301C probably damaging Het
Cubn T A 2: 13,311,243 (GRCm39) D3094V probably damaging Het
Cyba A T 8: 123,153,977 (GRCm39) M65K possibly damaging Het
Cyp4f39 T A 17: 32,705,934 (GRCm39) S342T possibly damaging Het
Daam2 T C 17: 49,787,806 (GRCm39) I436V probably benign Het
Daglb T C 5: 143,460,363 (GRCm39) probably benign Het
Dnah7b T G 1: 46,262,338 (GRCm39) L2067R probably damaging Het
Ep300 T C 15: 81,500,328 (GRCm39) probably null Het
Esm1 A G 13: 113,353,230 (GRCm39) N171D probably damaging Het
Fbxl2 T C 9: 113,814,393 (GRCm39) E266G probably damaging Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Hacd3 A T 9: 64,911,524 (GRCm39) probably benign Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lct T C 1: 128,255,632 (GRCm39) M137V probably benign Het
Lilrb4b T G 10: 51,360,614 (GRCm39) N176K probably benign Het
Macf1 T A 4: 123,281,190 (GRCm39) H4340L probably damaging Het
Mcidas A G 13: 113,130,906 (GRCm39) D77G probably damaging Het
Mmrn1 C A 6: 60,949,994 (GRCm39) Q315K probably damaging Het
Mon2 C A 10: 122,849,417 (GRCm39) L1294F possibly damaging Het
Muc5ac A G 7: 141,349,012 (GRCm39) T483A possibly damaging Het
Nacc1 T C 8: 85,401,504 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ngef A G 1: 87,468,370 (GRCm39) probably benign Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Ogfod3 A T 11: 121,085,896 (GRCm39) probably benign Het
Or6c8 A T 10: 128,915,232 (GRCm39) V200E probably damaging Het
Or8i2 A C 2: 86,852,134 (GRCm39) Y251* probably null Het
Parpbp T C 10: 87,928,871 (GRCm39) Y523C possibly damaging Het
Pik3cg C A 12: 32,254,321 (GRCm39) L555F probably benign Het
Pkp3 T G 7: 140,669,676 (GRCm39) probably null Het
Pole G T 5: 110,472,291 (GRCm39) R1518L probably damaging Het
Prkab1 T C 5: 116,156,144 (GRCm39) probably benign Het
Prrc2a T C 17: 35,374,796 (GRCm39) T1285A probably benign Het
Pus1 C A 5: 110,922,720 (GRCm39) V222L probably benign Het
Rab11fip1 A G 8: 27,633,352 (GRCm39) L1118P probably damaging Het
Ranbp2 T A 10: 58,315,868 (GRCm39) I2196N probably damaging Het
Rims3 T C 4: 120,744,223 (GRCm39) L151P probably damaging Het
Rnf130 A G 11: 49,962,046 (GRCm39) D164G possibly damaging Het
Rps6ka2 C A 17: 7,529,585 (GRCm39) L293I probably benign Het
Ruvbl1 A G 6: 88,461,441 (GRCm39) T269A possibly damaging Het
Sema4a A T 3: 88,358,729 (GRCm39) I10N probably damaging Het
Serpinb6e A T 13: 34,025,043 (GRCm39) S83T probably benign Het
Slc12a9 C A 5: 137,313,550 (GRCm39) W803L probably damaging Het
Slc3a2 A G 19: 8,685,437 (GRCm39) S188P probably damaging Het
Slc7a13 G A 4: 19,818,782 (GRCm39) probably benign Het
Spart A T 3: 55,035,092 (GRCm39) K493* probably null Het
Spata31e2 A G 1: 26,726,413 (GRCm39) M32T probably benign Het
Sun1 T C 5: 139,227,166 (GRCm39) V574A probably damaging Het
Supt6 A G 11: 78,099,062 (GRCm39) V1603A probably benign Het
Tgm5 A G 2: 120,908,062 (GRCm39) V38A possibly damaging Het
Tm6sf2 T C 8: 70,530,518 (GRCm39) probably benign Het
Tnfaip2 T A 12: 111,412,292 (GRCm39) V231E possibly damaging Het
Tube1 T A 10: 39,021,598 (GRCm39) M281K possibly damaging Het
Tubgcp3 A G 8: 12,707,561 (GRCm39) Y143H probably benign Het
Tyrp1 A G 4: 80,759,015 (GRCm39) Y296C probably damaging Het
Utp4 A G 8: 107,621,301 (GRCm39) N26S probably benign Het
Vgf T A 5: 137,060,336 (GRCm39) probably benign Het
Zfat T C 15: 68,058,948 (GRCm39) K196E possibly damaging Het
Zfp366 G T 13: 99,366,048 (GRCm39) S403I probably damaging Het
Zfp462 G A 4: 55,010,529 (GRCm39) G832R probably damaging Het
Zfp955a T A 17: 33,461,430 (GRCm39) Q234L probably damaging Het
Zup1 T C 10: 33,819,709 (GRCm39) T202A 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
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
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'- CTGTGTGGTACATAGATGTTCCCAAGG -3'
(R):5'- AGGAGGACCACCTCTGCGTTGATA -3'

Sequencing Primer
(F):5'- aggggaaggggaggttg -3'
(R):5'- GCGTTGATAGCCCCCATC -3'
Posted On 2013-04-16