Incidental Mutation 'R7332:Cfap44'
ID 569323
Institutional Source Beutler Lab
Gene Symbol Cfap44
Ensembl Gene ENSMUSG00000071550
Gene Name cilia and flagella associated protein 44
Synonyms Wdr52, 6330444M21Rik, D16Ertd642e
MMRRC Submission 045425-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7332 (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 44250191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 756 (D756E)
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: D756E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: D756E

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: D756E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: D756E

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A G 19: 56,906,553 (GRCm39) S449P probably damaging Het
Atp6v0c A C 17: 24,388,198 (GRCm39) S21A probably benign Het
Cacna1e T C 1: 154,601,547 (GRCm39) Y40C possibly damaging Het
Cdadc1 A G 14: 59,813,213 (GRCm39) I398T possibly damaging Het
Clcnkb A T 4: 141,141,243 (GRCm39) L104Q probably null Het
Clk1 G A 1: 58,451,853 (GRCm39) H421Y probably benign Het
Cmpk2 A T 12: 26,528,061 (GRCm39) D426V probably damaging Het
Cmya5 A G 13: 93,229,061 (GRCm39) L2009S possibly damaging Het
Col5a2 C G 1: 45,419,325 (GRCm39) D1252H probably damaging Het
Coro1b A G 19: 4,199,356 (GRCm39) K5R probably benign Het
Csmd2 A G 4: 128,313,360 (GRCm39) T1346A Het
Csrp1 G T 1: 135,667,149 (GRCm39) W4L probably benign Het
Cyp3a25 A G 5: 145,929,817 (GRCm39) I184T probably damaging Het
Egfl7 C A 2: 26,480,725 (GRCm39) R128S probably benign Het
Fggy A T 4: 95,511,719 (GRCm39) N157I probably damaging Het
Gldc A T 19: 30,093,926 (GRCm39) L697Q probably damaging Het
Gm4952 T A 19: 12,604,373 (GRCm39) Y262N probably damaging Het
Gsap T A 5: 21,495,119 (GRCm39) M821K probably benign Het
Hps1 T C 19: 42,766,351 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,280,038 (GRCm39) probably benign Het
Igfbp7 G A 5: 77,499,803 (GRCm39) T220I probably damaging Het
Ints3 T C 3: 90,322,819 (GRCm39) Q137R probably damaging Het
Kcna6 A G 6: 126,716,292 (GRCm39) F199S possibly damaging Het
Kirrel1 T C 3: 86,995,705 (GRCm39) I410V probably benign Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc27 A G 7: 138,822,661 (GRCm39) I517M probably damaging Het
Mas1 T C 17: 13,061,106 (GRCm39) T106A probably benign Het
Mast4 T A 13: 102,887,932 (GRCm39) Y1159F possibly damaging Het
Mmp2 A G 8: 93,576,780 (GRCm39) D601G probably damaging Het
Mycbp2 T A 14: 103,434,793 (GRCm39) I2217F probably damaging Het
Mycbp2 A G 14: 103,393,889 (GRCm39) S2891P probably damaging Het
Naip6 A G 13: 100,437,209 (GRCm39) V438A possibly damaging Het
Or4g17 A G 2: 111,209,738 (GRCm39) H131R not run Het
Pdf T C 8: 107,775,173 (GRCm39) R20G probably benign Het
Pfdn2 T C 1: 171,184,162 (GRCm39) L47P probably damaging Het
Pik3c2g C A 6: 139,841,981 (GRCm39) N795K Het
Ppip5k1 A T 2: 121,142,450 (GRCm39) V1333D probably damaging Het
Pramel51 T C 12: 88,143,187 (GRCm39) T339A possibly damaging Het
Prss44 A T 9: 110,644,530 (GRCm39) I213F probably damaging Het
Rbm47 A G 5: 66,183,557 (GRCm39) Y349H probably damaging Het
Rcl1 A T 19: 29,108,096 (GRCm39) T253S probably benign Het
Rdh1 A G 10: 127,595,754 (GRCm39) probably benign Het
Scn7a C T 2: 66,522,898 (GRCm39) W935* probably null Het
Sec24b T C 3: 129,835,042 (GRCm39) N52S probably benign Het
Serpinb5 A T 1: 106,800,091 (GRCm39) I94L probably benign Het
Setx T C 2: 29,036,638 (GRCm39) V1041A probably benign Het
Slco3a1 G A 7: 73,968,232 (GRCm39) A496V possibly damaging Het
Spag5 T A 11: 78,204,205 (GRCm39) L486* probably null Het
Spink5 T C 18: 44,115,317 (GRCm39) I183T probably damaging Het
Srd5a1 T C 13: 69,759,173 (GRCm39) Y65C probably benign Het
Ssh2 T A 11: 77,344,349 (GRCm39) I778N possibly damaging Het
Sstr1 C T 12: 58,260,172 (GRCm39) S265L probably damaging Het
Syne2 T A 12: 76,014,529 (GRCm39) probably null Het
Tctn1 A T 5: 122,399,547 (GRCm39) D92E probably damaging Het
Tiam2 A G 17: 3,503,644 (GRCm39) I940M probably damaging Het
Tmeff2 T C 1: 51,018,599 (GRCm39) W194R unknown Het
Tomm20 T C 8: 127,663,903 (GRCm39) T94A probably benign Het
Ucn2 A G 9: 108,815,532 (GRCm39) N98S probably benign Het
V1rd19 A T 7: 23,702,743 (GRCm39) I70L probably benign Het
Vmn1r18 A G 6: 57,367,503 (GRCm39) L17P probably benign Het
Vmn2r61 A G 7: 41,909,534 (GRCm39) T20A probably benign Het
Wdr59 G A 8: 112,220,986 (GRCm39) T182I Het
Zfp40 A T 17: 23,395,155 (GRCm39) C477* probably null Het
Zfp68 A G 5: 138,604,830 (GRCm39) S498P possibly damaging Het
Zfp729b T C 13: 67,757,755 (GRCm39) probably null Het
Zfp846 T G 9: 20,505,521 (GRCm39) N460K probably benign Het
Zim1 T C 7: 6,680,352 (GRCm39) Y437C 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
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'- CCAGAGGCAAAACTTCTCCTGTG -3'
(R):5'- TGACGACCCTAAGATCCTTGG -3'

Sequencing Primer
(F):5'- TGCTGACTTCTGCAGTAGAAAC -3'
(R):5'- CGACCCTAAGATCCTTGGTAAAGTTC -3'
Posted On 2019-09-13