Incidental Mutation 'R7410:Cfap44'
ID 575041
Institutional Source Beutler Lab
Gene Symbol Cfap44
Ensembl Gene ENSMUSG00000071550
Gene Name cilia and flagella associated protein 44
Synonyms Wdr52, 6330444M21Rik, D16Ertd642e
MMRRC Submission 045491-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7410 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 44215159-44302791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44288776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 1509 (S1509C)
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: S1509C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: S1509C

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: S1509C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: S1509C

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,512,551 (GRCm39) S3P unknown Het
Adgrv1 A T 13: 81,711,738 (GRCm39) D1079E probably benign Het
Agbl5 A T 5: 31,048,032 (GRCm39) Y102F possibly damaging Het
Ankfy1 T C 11: 72,652,330 (GRCm39) L1094S probably damaging Het
Ankrd42 A T 7: 92,259,762 (GRCm39) V337E possibly damaging Het
Axl A G 7: 25,458,208 (GRCm39) L849P probably benign Het
Bmpr2 T C 1: 59,907,652 (GRCm39) I915T probably benign Het
Cables1 T A 18: 12,074,282 (GRCm39) F494L probably benign Het
Cacna1e A C 1: 154,347,980 (GRCm39) V927G probably benign Het
Cavin1 A T 11: 100,849,670 (GRCm39) V320E probably damaging Het
Cemip T G 7: 83,602,042 (GRCm39) S916R probably damaging Het
Cep57 G A 9: 13,729,980 (GRCm39) probably benign Het
Ces1d T C 8: 93,919,433 (GRCm39) N120D probably damaging Het
Chga A G 12: 102,528,866 (GRCm39) D281G probably benign Het
Clstn2 A G 9: 97,423,920 (GRCm39) F282L probably benign Het
Cnot1 A T 8: 96,459,787 (GRCm39) V1855E possibly damaging Het
Cnr1 T A 4: 33,944,119 (GRCm39) V169D probably damaging Het
Cpd T A 11: 76,673,134 (GRCm39) H1337L probably damaging Het
Crabp2 T A 3: 87,859,585 (GRCm39) D78E probably damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cyp2ab1 G A 16: 20,135,475 (GRCm39) A9V probably benign Het
Cyp3a41b T C 5: 145,514,967 (GRCm39) D86G probably damaging Het
Dner T A 1: 84,563,332 (GRCm39) D96V probably damaging Het
Duox1 C A 2: 122,176,874 (GRCm39) T1465N probably damaging Het
Ehd3 T A 17: 74,112,428 (GRCm39) V64E probably benign Het
Ehmt1 A G 2: 24,738,080 (GRCm39) V508A probably benign Het
Ephb3 G A 16: 21,040,158 (GRCm39) V761I possibly damaging Het
Fam161b T C 12: 84,404,575 (GRCm39) Q35R probably benign Het
Fam186a T A 15: 99,844,826 (GRCm39) K473* probably null Het
Fam227b A T 2: 125,960,983 (GRCm39) D215E probably damaging Het
Fkbp15 C A 4: 62,258,536 (GRCm39) D144Y probably damaging Het
Galt T C 4: 41,757,707 (GRCm39) I259T possibly damaging Het
Gbp11 G A 5: 105,491,774 (GRCm39) P8S probably damaging Het
Gfap A T 11: 102,783,963 (GRCm39) M339K probably damaging Het
Gm14443 C T 2: 175,011,069 (GRCm39) R459Q possibly damaging Het
Grip1 A G 10: 119,855,925 (GRCm39) N632S probably benign Het
H4c18 G A 13: 22,016,211 (GRCm39) R40W probably damaging Het
Hcar1 T G 5: 124,017,161 (GRCm39) I177L possibly damaging Het
Ighv1-37 A G 12: 114,860,099 (GRCm39) V37A probably damaging Het
Ilf3 T A 9: 21,311,100 (GRCm39) F657L unknown Het
Ints2 T G 11: 86,124,052 (GRCm39) T579P probably benign Het
Iqgap1 G T 7: 80,372,778 (GRCm39) Y1520* probably null Het
Kdm4a T C 4: 118,001,115 (GRCm39) H884R possibly damaging Het
Krtap19-1 A T 16: 88,666,132 (GRCm39) Y52N unknown Het
Lama5 A T 2: 179,844,183 (GRCm39) probably null Het
Lrrc72 T C 12: 36,272,803 (GRCm39) N89D probably damaging Het
Med13l A G 5: 118,698,897 (GRCm39) D16G possibly damaging Het
Mefv A G 16: 3,533,545 (GRCm39) L242P probably damaging Het
Mob3c T C 4: 115,688,784 (GRCm39) Y106H probably damaging Het
Nlrp1a A G 11: 71,014,683 (GRCm39) I189T probably damaging Het
Nudt7 T C 8: 114,860,559 (GRCm39) probably benign Het
Or13p10 T C 4: 118,523,629 (GRCm39) L305P probably benign Het
Or4f7 T A 2: 111,644,271 (GRCm39) I267L probably benign Het
Pappa A G 4: 65,253,956 (GRCm39) T1537A probably damaging Het
Pik3r4 T A 9: 105,527,790 (GRCm39) V381E probably damaging Het
Pkd1 T A 17: 24,794,855 (GRCm39) Y2181N probably damaging Het
Pmel G T 10: 128,552,353 (GRCm39) V396F probably benign Het
Prdm9 A G 17: 15,765,259 (GRCm39) I507T possibly damaging Het
Psme4 C T 11: 30,765,279 (GRCm39) Q549* probably null Het
Ptprg T A 14: 11,962,657 (GRCm38) W152R probably damaging Het
Ptprm A C 17: 67,000,561 (GRCm39) V1141G probably damaging Het
Rapgef5 G A 12: 117,685,063 (GRCm39) V505M probably damaging Het
Rnf213 T A 11: 119,325,877 (GRCm39) M1558K Het
Slc35a1 A G 4: 34,675,034 (GRCm39) V168A probably benign Het
Srebf1 T C 11: 60,096,693 (GRCm39) T347A probably benign Het
Stard9 T A 2: 120,531,978 (GRCm39) V2745D probably benign Het
Taar7e A T 10: 23,914,424 (GRCm39) T305S probably benign Het
Tie1 T C 4: 118,337,074 (GRCm39) S551G probably benign Het
Tmc5 T A 7: 118,222,820 (GRCm39) Y173* probably null Het
Tns2 T A 15: 102,018,961 (GRCm39) V384D probably damaging Het
Tubgcp4 T A 2: 121,014,890 (GRCm39) Y267N probably damaging Het
Vmn1r53 A G 6: 90,200,700 (GRCm39) V208A probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdfy4 T C 14: 32,696,191 (GRCm39) D2784G Het
Zfp712 A C 13: 67,189,400 (GRCm39) S376A probably benign Het
Znrf3 C T 11: 5,238,955 (GRCm39) C232Y unknown 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
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'- ACCTTGGGGATGATATTCAGACATTTG -3'
(R):5'- GCTTGTAGGCTTTACTTCATGC -3'

Sequencing Primer
(F):5'- CTTGCTATGACTGGATTCAACGAGC -3'
(R):5'- AGGCTTTACTTCATGCATTTAAAAC -3'
Posted On 2019-10-07