Mutagenetix > Incidental Mutation

Incidental Mutation 'R2023:Cfap44'

220192

Institutional Source

Beutler Lab

Gene Symbol

Cfap44

Ensembl Gene

ENSMUSG00000071550

Gene Name

cilia and flagella associated protein 44

Synonyms

Wdr52, 6330444M21Rik, D16Ertd642e

MMRRC Submission

040032-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44215159-44302791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44236375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 417 (I417V)

Ref Sequence

ENSEMBL: ENSMUSP00000113908 (fasta)

Gene Model

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

AlphaFold

E9Q5M6

Predicted Effect

probably benign
Transcript: ENSMUST00000099742
AA Change: I417V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: I417V

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
AA Change: I417V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: I417V

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

Meta Mutation Damage Score

0.0728

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.4%

Validation Efficiency

97% (60/62)

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
9930111J21Rik1	A	G	11: 48,839,247 (GRCm39)	S447P	possibly damaging	Het
9930111J21Rik2	A	G	11: 48,911,144 (GRCm39)	F430L	probably benign	Het
Acap2	A	G	16: 30,938,233 (GRCm39)	V297A	probably damaging	Het
Adam3	G	A	8: 25,179,479 (GRCm39)	R613C	possibly damaging	Het
Akt1	C	T	12: 112,626,071 (GRCm39)	R67Q	probably benign	Het
Ambp	T	C	4: 63,069,702 (GRCm39)	Y108C	probably damaging	Het
Apob	A	G	12: 8,061,090 (GRCm39)	I3158V	probably benign	Het
Bank1	T	C	3: 136,031,679 (GRCm39)	T8A	probably benign	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc88a	G	T	11: 29,413,546 (GRCm39)	E695*	probably null	Het
Cep68	A	C	11: 20,189,888 (GRCm39)	S375A	probably benign	Het
Chrna2	T	A	14: 66,379,677 (GRCm39)	H5Q	probably benign	Het
Cog7	A	T	7: 121,536,193 (GRCm39)	I549K	probably damaging	Het
Col28a1	C	A	6: 8,083,783 (GRCm39)	S558I	possibly damaging	Het
Cyp4f14	A	G	17: 33,125,505 (GRCm39)	I385T	probably damaging	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Erap1	T	A	13: 74,814,627 (GRCm39)	V451E	probably benign	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm5616	A	G	9: 48,361,928 (GRCm39)		noncoding transcript	Het
Gm5709	T	C	3: 59,543,142 (GRCm39)		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Itpr3	T	A	17: 27,321,785 (GRCm39)	M1054K	possibly damaging	Het
Kars1	T	C	8: 112,728,484 (GRCm39)	N200S	probably benign	Het
Kdm2a	C	A	19: 4,372,492 (GRCm39)	R951L	probably damaging	Het
Ldhd	T	A	8: 112,356,578 (GRCm39)	H61L	probably damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Micall2	A	G	5: 139,703,266 (GRCm39)	V190A	possibly damaging	Het
Mis18bp1	A	T	12: 65,195,883 (GRCm39)	V627E	probably damaging	Het
Muc4	A	T	16: 32,574,054 (GRCm39)	T711S	probably benign	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nox3	A	G	17: 3,744,296 (GRCm39)		probably benign	Het
Or4b1d	G	T	2: 89,969,200 (GRCm39)	C94*	probably null	Het
Or5p63	A	G	7: 107,811,049 (GRCm39)	L229P	probably damaging	Het
Or6c1b	T	A	10: 129,273,451 (GRCm39)	Y257N	probably damaging	Het
Osbpl2	C	A	2: 179,791,969 (GRCm39)		probably null	Het
Pamr1	T	A	2: 102,464,880 (GRCm39)	M343K	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Pgr	T	A	9: 8,958,399 (GRCm39)	V802D	probably damaging	Het
Pgs1	A	G	11: 117,893,228 (GRCm39)	E55G	probably benign	Het
Pkd2	T	A	5: 104,614,744 (GRCm39)		probably null	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Ptprd	C	T	4: 75,875,341 (GRCm39)	E1240K	probably damaging	Het
Recql5	G	A	11: 115,784,466 (GRCm39)	T878I	probably benign	Het
Rnf17	A	G	14: 56,669,036 (GRCm39)	D233G	possibly damaging	Het
Sectm1a	A	G	11: 120,960,408 (GRCm39)		probably benign	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Srcin1	A	G	11: 97,416,872 (GRCm39)	S931P	probably benign	Het
Tcof1	C	T	18: 60,966,605 (GRCm39)	G329R	probably damaging	Het
Thsd7a	G	A	6: 12,327,535 (GRCm39)	H1446Y	probably benign	Het
Tlr11	A	G	14: 50,600,026 (GRCm39)	T671A	probably damaging	Het
Tmem171	C	A	13: 98,828,733 (GRCm39)	W139L	probably damaging	Het
Vmn2r101	C	T	17: 19,810,368 (GRCm39)	R385*	probably null	Het
Vps13c	A	T	9: 67,843,567 (GRCm39)		probably benign	Het
Wdr87-ps	G	T	7: 29,230,959 (GRCm39)		noncoding transcript	Het
Zfp287	A	C	11: 62,605,808 (GRCm39)	Y366*	probably null	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp523	A	G	17: 28,419,978 (GRCm39)		probably benign	Het
Zfp667	A	C	7: 6,308,416 (GRCm39)	K361N	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
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
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'- TACCCTTTAACGGCTGAGC -3'
(R):5'- TTGGTTAAAATGAGGGCCAGC -3'

Sequencing Primer
(F):5'- ACAGGGTCTCACTGTCAAATTCTGG -3'
(R):5'- GTTAAAATGAGGGCCAGCAACACC -3'

Posted On

2014-08-25