Mutagenetix > Incidental Mutation

Incidental Mutation 'V1662:Cfap44'

63500

Institutional Source

Beutler Lab

Gene Symbol

Cfap44

Ensembl Gene

ENSMUSG00000071550

Gene Name

cilia and flagella associated protein 44

Synonyms

Wdr52, 6330444M21Rik, D16Ertd642e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

V1662 () of strain 633

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

44215159-44302791 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 44269501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1168 (Y1168*)

Ref Sequence

ENSEMBL: ENSMUSP00000113908 (fasta)

Gene Model

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

AlphaFold

E9Q5M6

Predicted Effect

probably null
Transcript: ENSMUST00000099742
AA Change: Y1168*

SMART Domains

Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: Y1168*

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 null
Transcript: ENSMUST00000120049
AA Change: Y1168*

SMART Domains

Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: Y1168*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.6%
20x: 95.4%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	C	5: 114,376,769 (GRCm39)	G1951R	probably damaging	Het
Adamts12	T	A	15: 11,071,894 (GRCm39)	L146Q	probably benign	Het
Adgra1	T	C	7: 139,432,495 (GRCm39)	I111T	probably damaging	Het
Amph	G	A	13: 19,323,540 (GRCm39)	V601M	probably benign	Het
Arfgef1	T	C	1: 10,243,478 (GRCm39)	K1024E	probably damaging	Het
Arhgef2	G	A	3: 88,540,636 (GRCm39)	R154Q	probably damaging	Het
Bank1	T	A	3: 135,760,179 (GRCm39)	D782V	probably damaging	Het
Bhlha9	G	T	11: 76,563,862 (GRCm39)	R163L	probably benign	Het
Cacna1h	T	C	17: 25,596,283 (GRCm39)	N1913D	possibly damaging	Het
Cd7	T	C	11: 120,927,952 (GRCm39)	I184V	probably benign	Het
Cdk2ap1	T	A	5: 124,486,739 (GRCm39)	I68F	possibly damaging	Het
D6Ertd527e	T	C	6: 87,088,874 (GRCm39)	S346P	unknown	Het
Daam2	A	G	17: 49,771,629 (GRCm39)	L839P	possibly damaging	Het
Gask1a	A	G	9: 121,794,091 (GRCm39)	R82G	probably damaging	Het
Golgb1	A	G	16: 36,718,904 (GRCm39)	H270R	probably benign	Het
H2-T9	A	G	17: 36,439,823 (GRCm39)	Y104H	probably benign	Het
Itgav	C	T	2: 83,614,198 (GRCm39)	R519W	possibly damaging	Het
Lrp1b	A	T	2: 41,012,944 (GRCm39)	I2001K	probably damaging	Het
Lrrc40	T	A	3: 157,758,426 (GRCm39)	I277K	probably damaging	Het
Or2y8	T	C	11: 52,036,004 (GRCm39)	M118V	probably damaging	Het
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Or5m13	C	A	2: 85,748,938 (GRCm39)	T223K	probably benign	Het
Or6b13	C	T	7: 139,781,871 (GRCm39)	D271N	possibly damaging	Het
Pyroxd1	G	A	6: 142,304,169 (GRCm39)	G307S	probably damaging	Het
Rp1	T	A	1: 4,419,783 (GRCm39)	Y443F	probably damaging	Het
Rpusd4	C	A	9: 35,184,057 (GRCm39)	S237R	probably benign	Het
Sdk2	A	C	11: 113,725,734 (GRCm39)	W1172G	probably damaging	Het
Utrn	A	G	10: 12,297,384 (GRCm39)	Y675H	probably damaging	Het
Vmn1r193	A	G	13: 22,403,245 (GRCm39)	I249T	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
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
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'- GCGAGCATTAAGAGGCCGTTGTTAC -3'
(R):5'- CTGGTTCTGCATGGTGAGCTGATAC -3'

Sequencing Primer
(F):5'- AAGAGGCCGTTGTTACATTTATGTC -3'
(R):5'- ACAGGATGCTTTTCGTGGTC -3'

Posted On

2013-07-30