Mutagenetix > Incidental Mutation

Incidental Mutation 'R9334:Cfap44'

707027

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 #

R9334 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44215159-44302791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44239654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 567 (T567K)

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: T567K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: T567K

Domain	Start	End	E-Value	Type
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: T567K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: T567K

Domain	Start	End	E-Value	Type
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: 99.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	A	T	1: 36,739,251 (GRCm39)	I346N	probably damaging	Het
Adam6b	A	C	12: 113,454,768 (GRCm39)	E528D	probably damaging	Het
Ang	A	G	14: 51,339,017 (GRCm39)	M53V	possibly damaging	Het
Ankrd26	G	A	6: 118,509,262 (GRCm39)	A601V	probably benign	Het
Atp6v0d2	A	G	4: 19,890,695 (GRCm39)	L155P	probably damaging	Het
Cacna1a	T	C	8: 85,296,594 (GRCm39)	V1204A	probably damaging	Het
Car4	A	G	11: 84,855,415 (GRCm39)	I183V	probably benign	Het
Ccdc149	G	T	5: 52,578,171 (GRCm39)	A87E	possibly damaging	Het
Ccdc88b	A	G	19: 6,833,541 (GRCm39)	M208T	possibly damaging	Het
Ccnt2	T	C	1: 127,723,046 (GRCm39)	L162S	probably damaging	Het
Cd27	A	G	6: 125,213,718 (GRCm39)		probably null	Het
Cpne5	C	T	17: 29,423,673 (GRCm39)	V152M	probably benign	Het
Cyp2u1	C	T	3: 131,092,065 (GRCm39)	V152M	probably damaging	Het
Dnajc13	A	T	9: 104,051,659 (GRCm39)	F1733I	probably benign	Het
Dop1a	A	G	9: 86,403,027 (GRCm39)	Y1409C	probably damaging	Het
Ecm2	T	C	13: 49,677,815 (GRCm39)	M367T	probably benign	Het
Eif4g2	A	G	7: 110,674,031 (GRCm39)	S658P	possibly damaging	Het
Exoc3l4	T	C	12: 111,397,117 (GRCm39)	L666P	probably damaging	Het
Fbxl4	G	A	4: 22,376,778 (GRCm39)	M71I	probably damaging	Het
Fbxw10	T	C	11: 62,765,910 (GRCm39)	S727P	possibly damaging	Het
Fem1b	A	T	9: 62,703,604 (GRCm39)	L552*	probably null	Het
Filip1	A	T	9: 79,725,739 (GRCm39)	V960D	probably benign	Het
Glipr1l3	A	T	10: 111,979,948 (GRCm39)	M198K	probably benign	Het
Gm19410	T	A	8: 36,270,722 (GRCm39)	C1216*	probably null	Het
Gmps	T	A	3: 63,889,864 (GRCm39)	V81E	probably damaging	Het
Gpr150	G	T	13: 76,204,103 (GRCm39)	Q281K	probably benign	Het
Grsf1	A	G	5: 88,820,469 (GRCm39)	V221A	probably damaging	Het
Gsc	T	A	12: 104,439,353 (GRCm39)	I8F	probably damaging	Het
Homer2	A	T	7: 81,261,078 (GRCm39)	C284*	probably null	Het
Hrg	T	A	16: 22,780,061 (GRCm39)	H446Q	unknown	Het
Jag1	C	T	2: 136,943,593 (GRCm39)	R201H	probably damaging	Het
Kctd15	C	T	7: 34,341,483 (GRCm39)	R148H	possibly damaging	Het
Klhdc7a	G	A	4: 139,693,493 (GRCm39)	R485C	probably benign	Het
Ldhd	T	A	8: 112,353,980 (GRCm39)	I407F	probably benign	Het
Lgals12	G	A	19: 7,578,086 (GRCm39)	R192C	probably benign	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Lum	A	T	10: 97,404,347 (GRCm39)	I81F	probably damaging	Het
Map1b	G	T	13: 99,568,148 (GRCm39)	D1524E	unknown	Het
Marveld3	A	G	8: 110,675,036 (GRCm39)	L260S	probably damaging	Het
Mms19	C	T	19: 41,942,203 (GRCm39)	R555H	probably benign	Het
Mrpl37	G	A	4: 106,921,605 (GRCm39)	T208I	probably benign	Het
Mug1	A	T	6: 121,838,490 (GRCm39)	T498S	probably benign	Het
Myo3b	T	C	2: 70,047,360 (GRCm39)	C289R	probably damaging	Het
Myo7a	A	T	7: 97,716,369 (GRCm39)	F1459Y	probably damaging	Het
Neurl4	C	A	11: 69,796,792 (GRCm39)	R518S	probably damaging	Het
Nmnat2	T	G	1: 152,949,585 (GRCm39)	V43G	probably damaging	Het
Or2b11	T	C	11: 59,462,272 (GRCm39)	Y98C	probably damaging	Het
Or2n1b	T	A	17: 38,459,840 (GRCm39)	F120L	probably benign	Het
Or6c6c	A	G	10: 129,541,683 (GRCm39)	N312S	probably benign	Het
Otog	A	G	7: 45,909,353 (GRCm39)	T608A	possibly damaging	Het
Pck2	G	A	14: 55,785,283 (GRCm39)	R482Q	probably damaging	Het
Pcx	G	A	19: 4,670,532 (GRCm39)	M1013I	probably benign	Het
Pex13	A	G	11: 23,605,630 (GRCm39)	M200T	probably benign	Het
Pigt	CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	2: 164,349,420 (GRCm39)		probably null	Het
Pramel32	A	T	4: 88,548,186 (GRCm39)	I73K	probably damaging	Het
Ptpn4	T	C	1: 119,730,114 (GRCm39)	H26R	probably benign	Het
Ralgps2	T	A	1: 156,715,599 (GRCm39)	E72V	probably damaging	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Scube1	A	T	15: 83,512,264 (GRCm39)	C396S	possibly damaging	Het
Sec23b	T	A	2: 144,410,550 (GRCm39)	N283K	possibly damaging	Het
Setx	T	A	2: 29,044,032 (GRCm39)	Y1800*	probably null	Het
Sgce	G	T	6: 4,707,205 (GRCm39)	S213R	probably damaging	Het
Skic3	C	A	13: 76,281,076 (GRCm39)	T704N	possibly damaging	Het
Slc36a2	T	C	11: 55,075,865 (GRCm39)		probably benign	Het
Sult5a1	A	T	8: 123,875,146 (GRCm39)	D129E	probably damaging	Het
Tacr1	A	T	6: 82,380,913 (GRCm39)	H108L	probably damaging	Het
Tnfsf10	T	A	3: 27,389,496 (GRCm39)	Y186N	probably damaging	Het
Unc80	T	C	1: 66,688,919 (GRCm39)	S2428P	possibly damaging	Het
Vwf	G	A	6: 125,654,909 (GRCm39)	R2535H		Het
Zfp532	A	G	18: 65,756,128 (GRCm39)	I20M	probably damaging	Het

Other mutations in Cfap44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CAGGTAAGCGTTTCTGCATCAC -3'
(R):5'- GAATTCATCCAGCATGATTTCCATC -3'

Sequencing Primer
(F):5'- GCATCACAGATTGTAGTAGGATTCC -3'
(R):5'- TACCATACATAGACTGCACTGAAAG -3'

Posted On

2022-04-18