Mutagenetix > Incidental Mutation

Incidental Mutation 'R0288:Cfap44'

24751

Institutional Source

Beutler Lab

Gene Symbol

Cfap44

Ensembl Gene

ENSMUSG00000071550

Gene Name

cilia and flagella associated protein 44

Synonyms

Wdr52, 6330444M21Rik, D16Ertd642e

MMRRC Submission

038507-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0288 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44215159-44302791 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 44236257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099742] [ENSMUST00000120049]

AlphaFold

E9Q5M6

Predicted Effect

probably benign
Transcript: ENSMUST00000099742

SMART Domains

Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550

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 benign
Transcript: ENSMUST00000120049

SMART Domains

Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550

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

noncoding transcript
Transcript: ENSMUST00000142648

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.7%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,766,568 (GRCm39)	E413G	possibly damaging	Het
Amigo2	G	T	15: 97,143,560 (GRCm39)	N287K	probably damaging	Het
Ankle2	T	A	5: 110,384,256 (GRCm39)	I260K	probably damaging	Het
Apob	C	T	12: 8,040,779 (GRCm39)	R635*	probably null	Het
Camkv	A	G	9: 107,823,555 (GRCm39)	Y153C	probably damaging	Het
Capn9	A	G	8: 125,327,230 (GRCm39)		probably benign	Het
Ces2c	A	G	8: 105,576,376 (GRCm39)	I130V	probably benign	Het
Cfhr3	A	G	1: 139,525,425 (GRCm39)		noncoding transcript	Het
Chmp1a	G	T	8: 123,934,745 (GRCm39)	D70E	probably damaging	Het
Coil	G	A	11: 88,872,694 (GRCm39)	G352R	probably damaging	Het
Colq	T	C	14: 31,265,949 (GRCm39)	E188G	possibly damaging	Het
Cyfip2	A	G	11: 46,144,799 (GRCm39)	F685S	possibly damaging	Het
Cyp4f39	A	G	17: 32,711,410 (GRCm39)	N519S	probably benign	Het
Dennd1c	A	T	17: 57,383,870 (GRCm39)		probably null	Het
Dnah9	A	T	11: 65,915,960 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,890,898 (GRCm39)	T290A	possibly damaging	Het
Dsc2	T	C	18: 20,166,177 (GRCm39)	D818G	probably damaging	Het
Gnptab	G	A	10: 88,268,967 (GRCm39)	V557I	probably benign	Het
Hdac4	A	T	1: 91,898,728 (GRCm39)	H675Q	probably damaging	Het
Kcnk3	T	C	5: 30,745,764 (GRCm39)	M35T	probably benign	Het
Kif1b	A	T	4: 149,283,795 (GRCm39)	I1290N	probably damaging	Het
Klhl14	G	A	18: 21,698,620 (GRCm39)	R398W	probably damaging	Het
Marveld1	T	C	19: 42,136,265 (GRCm39)	F60L	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Ndst3	A	T	3: 123,465,843 (GRCm39)	V43D	probably benign	Het
Nhsl1	A	G	10: 18,399,794 (GRCm39)	D306G	probably damaging	Het
Nlrp2	A	G	7: 5,331,544 (GRCm39)	V284A	probably benign	Het
Pcdhb15	T	C	18: 37,608,451 (GRCm39)	V561A	probably damaging	Het
Pdcl2	T	C	5: 76,460,344 (GRCm39)	I177V	possibly damaging	Het
Pkd1l3	G	A	8: 110,373,131 (GRCm39)		probably null	Het
Pla2g6	A	C	15: 79,171,106 (GRCm39)		probably benign	Het
Plekhj1	A	T	10: 80,632,444 (GRCm39)	I122N	probably damaging	Het
Pmel	T	C	10: 128,550,175 (GRCm39)	I70T	probably benign	Het
Psip1	T	C	4: 83,383,196 (GRCm39)	D273G	probably damaging	Het
Rictor	A	G	15: 6,816,021 (GRCm39)	I1098V	probably benign	Het
Rif1	T	C	2: 52,000,025 (GRCm39)	S1160P	probably damaging	Het
Rsbn1l	T	C	5: 21,125,038 (GRCm39)	I255V	probably damaging	Het
Slc15a5	A	G	6: 137,994,914 (GRCm39)		probably benign	Het
Slc29a1	G	A	17: 45,900,730 (GRCm39)	R111W	probably damaging	Het
Slc36a1	G	A	11: 55,109,913 (GRCm39)	A74T	probably damaging	Het
Slc5a7	A	T	17: 54,600,046 (GRCm39)	Y122*	probably null	Het
Slc6a3	G	T	13: 73,709,047 (GRCm39)	G324W	probably damaging	Het
Sltm	T	C	9: 70,486,633 (GRCm39)	S433P	probably damaging	Het
Spta1	T	C	1: 174,070,745 (GRCm39)	S2190P	probably damaging	Het
Sry	A	T	Y: 2,662,818 (GRCm39)	F281I	unknown	Het
Stk32a	T	A	18: 43,438,060 (GRCm39)		probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tbl3	G	A	17: 24,920,781 (GRCm39)	H612Y	probably damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Top2a	A	G	11: 98,907,249 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,333,606 (GRCm39)		probably benign	Het
Vldlr	G	A	19: 27,218,051 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r28	A	G	7: 5,491,020 (GRCm39)	L409P	probably damaging	Het
Vps13c	T	C	9: 67,834,648 (GRCm39)	V1659A	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zfp280d	A	T	9: 72,238,621 (GRCm39)	K646*	probably null	Het
Zfp36	A	G	7: 28,077,666 (GRCm39)	S81P	probably benign	Het
Zfp618	A	T	4: 63,051,171 (GRCm39)	T651S	possibly 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
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

Posted On

2013-04-16