Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Cfap44'

593812

Institutional Source

Beutler Lab

Gene Symbol

Cfap44

Ensembl Gene

ENSMUSG00000071550

Gene Name

cilia and flagella associated protein 44

Synonyms

Wdr52, 6330444M21Rik, D16Ertd642e

MMRRC Submission

045759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7698 (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 T at 44254149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 958 (H958Y)

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: H958Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: H958Y

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: H958Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: H958Y

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	C	A	14: 33,774,570 (GRCm39)	L140F	unknown	Het
Actn1	T	C	12: 80,221,311 (GRCm39)	T581A	probably benign	Het
Ak9	T	C	10: 41,224,072 (GRCm39)	L495S		Het
Aldh5a1	T	C	13: 25,095,731 (GRCm39)	D462G	probably damaging	Het
Amz2	A	G	11: 109,319,833 (GRCm39)	D73G	probably damaging	Het
Ank2	A	G	3: 126,825,860 (GRCm39)	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,704,093 (GRCm39)	Y342H	probably benign	Het
Atp8b5	C	T	4: 43,366,735 (GRCm39)	T833I	probably benign	Het
Camkk2	A	G	5: 122,884,482 (GRCm39)	I313T	probably damaging	Het
Cdk18	T	C	1: 132,050,116 (GRCm39)	T20A	probably damaging	Het
Cenpf	A	T	1: 189,394,269 (GRCm39)	C479S	probably benign	Het
Cfap221	C	A	1: 119,889,659 (GRCm39)	E192*	probably null	Het
Cic	A	T	7: 24,972,597 (GRCm39)	Q776L	possibly damaging	Het
Cldn17	C	A	16: 88,303,244 (GRCm39)	G162*	probably null	Het
Col19a1	T	A	1: 24,351,159 (GRCm39)	Y748F	probably benign	Het
Col27a1	C	T	4: 63,143,955 (GRCm39)	P548S	possibly damaging	Het
Cracdl	T	G	1: 37,664,452 (GRCm39)	E482A	probably benign	Het
Ctsr	T	A	13: 61,310,381 (GRCm39)	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Defa34	G	T	8: 22,156,645 (GRCm39)	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,072,359 (GRCm39)	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,591,015 (GRCm39)	Q734*	probably null	Het
Dph1	A	T	11: 75,081,267 (GRCm39)	S7T	probably benign	Het
Dpp8	T	C	9: 64,949,618 (GRCm39)	V121A	probably benign	Het
Dst	G	A	1: 34,229,468 (GRCm39)	G2354S	probably benign	Het
Duox2	A	T	2: 122,111,245 (GRCm39)	L1453Q	probably damaging	Het
Ecpas	C	G	4: 58,832,660 (GRCm39)	C900S	unknown	Het
Exosc10	T	A	4: 148,642,955 (GRCm39)	S11T	probably benign	Het
Fetub	A	G	16: 22,758,059 (GRCm39)	T281A	probably benign	Het
Flii	A	T	11: 60,610,918 (GRCm39)	W504R	probably damaging	Het
Gm5093	T	C	17: 46,750,866 (GRCm39)	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,684,397 (GRCm39)	D375G	probably benign	Het
Hikeshi	A	T	7: 89,572,889 (GRCm39)	N101K	probably benign	Het
Hmcn2	T	C	2: 31,313,165 (GRCm39)	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,452,083 (GRCm39)	N259S	possibly damaging	Het
Irf6	T	C	1: 192,844,075 (GRCm39)	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,511,479 (GRCm39)	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,296,807 (GRCm39)	P487S	probably benign	Het
Lcp1	C	A	14: 75,443,651 (GRCm39)	Y222*	probably null	Het
Manea	T	C	4: 26,327,763 (GRCm39)	D426G	probably damaging	Het
Map3k20	G	T	2: 72,195,025 (GRCm39)	E101*	probably null	Het
Map3k20	C	G	2: 72,268,658 (GRCm39)	S555C	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myo6	C	T	9: 80,124,938 (GRCm39)	P6S	unknown	Het
Myoc	A	T	1: 162,467,014 (GRCm39)	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,965,500 (GRCm39)	M1183K	probably benign	Het
Or52e7	T	A	7: 104,685,114 (GRCm39)	H236Q	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,404 (GRCm39)	F26S	probably damaging	Het
Or5b21	T	C	19: 12,840,077 (GRCm39)	S313P	possibly damaging	Het
Or8b40	T	A	9: 38,027,188 (GRCm39)	L37*	probably null	Het
Osbpl11	C	G	16: 33,054,817 (GRCm39)	N633K	probably benign	Het
Pate7	T	C	9: 35,688,472 (GRCm39)	M38V	probably benign	Het
Pcdhgb5	A	G	18: 37,865,684 (GRCm39)	E493G	probably damaging	Het
Phf20	T	A	2: 156,136,058 (GRCm39)	W626R	probably damaging	Het
Pkp2	C	A	16: 16,058,523 (GRCm39)	Q402K	probably benign	Het
Plch2	C	T	4: 155,087,244 (GRCm39)	D336N	possibly damaging	Het
Plk1	T	C	7: 121,768,481 (GRCm39)	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430 (GRCm39)	E328D	probably benign	Het
Prss44	G	A	9: 110,646,379 (GRCm39)	V369M	probably benign	Het
Rilp	A	G	11: 75,401,798 (GRCm39)	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900 (GRCm39)	Q69*	probably null	Het
Ryr2	T	C	13: 11,776,201 (GRCm39)	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,333,141 (GRCm39)	R238G	possibly damaging	Het
Spen	A	G	4: 141,200,156 (GRCm39)	S2824P	probably damaging	Het
Stk4	T	C	2: 163,925,663 (GRCm39)	M77T	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Thsd1	C	T	8: 22,749,003 (GRCm39)	R625*	probably null	Het
Tle3	A	T	9: 61,320,138 (GRCm39)	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,020,763 (GRCm39)	E230*	probably null	Het
Vmn2r90	T	C	17: 17,953,596 (GRCm39)	S587P	probably benign	Het
Wt1	A	T	2: 104,957,161 (GRCm39)	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,300,306 (GRCm39)	I2482V	probably benign	Het
Zfpm2	A	T	15: 40,959,487 (GRCm39)	I189F	probably benign	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
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'- TGTACCTGGAATGATGGCTG -3'
(R):5'- AGGGGATGCAAATACATTGTCTG -3'

Sequencing Primer
(F):5'- ACCTGGAATGATGGCTGTTTTGC -3'
(R):5'- TTAGCATACACCTCAGGTTACGG -3'

Posted On

2019-11-12