Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Cfap44'

391058

Institutional Source

Beutler Lab

Gene Symbol

Cfap44

Ensembl Gene

ENSMUSG00000071550

Gene Name

cilia and flagella associated protein 44

Synonyms

6330444M21Rik, D16Ertd642e, Wdr52

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44394796-44482428 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 44420204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113908 (fasta)

Gene Model

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

AlphaFold

E9Q5M6

Predicted Effect

probably null
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 null
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 null
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

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,242,625	Y222C	probably damaging	Het
Adprhl2	A	G	4: 126,318,445	S94P	probably damaging	Het
Atp11b	A	G	3: 35,809,361	E202G	probably benign	Het
Cacna1d	G	T	14: 30,114,244	S849*	probably null	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,504,745	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,817,547		probably benign	Het
Col17a1	C	A	19: 47,685,550	E13*	probably null	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dennd6b	A	G	15: 89,187,350	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,422,231	Y638D	probably benign	Het
Epb41	G	A	4: 132,007,435		probably benign	Het
Esp31	A	T	17: 38,644,609	I48L	possibly damaging	Het
Fat3	T	C	9: 15,996,858	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,219,133	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262	E1792*	probably null	Het
Fzd2	G	A	11: 102,604,807	G26R	probably damaging	Het
Gm11677	T	A	11: 111,725,438		noncoding transcript	Het
Gm7137	A	T	10: 77,788,071		probably benign	Het
Hnrnpr	A	G	4: 136,336,337	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,485	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,463,928		probably benign	Het
Meltf	A	G	16: 31,887,603		probably null	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Muc6	T	C	7: 141,644,224	D1213G	probably benign	Het
Ncam1	A	C	9: 49,798,695	F12C	probably benign	Het
Nfxl1	A	T	5: 72,556,239	D120E	probably benign	Het
Nrg1	T	C	8: 31,824,559	Q142R	probably damaging	Het
Olfr132	G	A	17: 38,130,541	S217F	probably damaging	Het
Olfr180	T	C	16: 58,916,072	T190A	probably benign	Het
Olfr250	C	A	9: 38,367,924	T116K	probably damaging	Het
Olfr347	T	G	2: 36,734,999	L226R	possibly damaging	Het
Olfr466	C	A	13: 65,152,929	A235D	possibly damaging	Het
Olfr684	T	C	7: 105,157,148	N178S	probably damaging	Het
Olfr948	C	A	9: 39,318,664	V317L	probably benign	Het
Olfr95	A	G	17: 37,211,667	L62P	probably damaging	Het
Padi2	G	T	4: 140,932,121	V246L	probably benign	Het
Pgghg	C	T	7: 140,942,542	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,112,758	N1117S	probably benign	Het
Plch1	G	T	3: 63,722,781	T534K	probably damaging	Het
Poc1a	G	T	9: 106,349,813		probably benign	Het
Polr3c	T	C	3: 96,723,517	I196V	probably benign	Het
Prph	A	T	15: 99,055,232		probably benign	Het
Ptprg	C	A	14: 12,037,387	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,704,014	I183N	probably damaging	Het
Rundc1	T	C	11: 101,425,537	L145P	probably benign	Het
Slc26a3	A	G	12: 31,470,965	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,659,191	E2G	possibly damaging	Het
Slc9a5	G	T	8: 105,355,858	V252L	probably benign	Het
Smim26	C	T	2: 144,595,123	T64M	probably benign	Het
Socs4	C	T	14: 47,290,132	R175*	probably null	Het
Srebf2	T	C	15: 82,182,050	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,659,742	S115T	probably damaging	Het
Tenm2	T	C	11: 36,207,080	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,676,329	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,167,457	V300A	probably benign	Het
Tle6	T	A	10: 81,594,238	N332I	possibly damaging	Het
Tle6	C	A	10: 81,595,957	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,224,207	V36M	probably damaging	Het
Tns2	T	C	15: 102,107,860	I211T	possibly damaging	Het
Trp63	A	G	16: 25,882,594	N379D	probably damaging	Het
Trpc2	T	C	7: 102,089,109	W433R	probably damaging	Het
Tyw1	T	A	5: 130,277,086	L350Q	probably benign	Het
Usf3	T	C	16: 44,212,707	L76P	probably damaging	Het
Vmn2r79	T	C	7: 87,002,215	L274P	probably damaging	Het

Other mutations in Cfap44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Cfap44	APN	16	44407404	missense	probably damaging	0.99
IGL00952:Cfap44	APN	16	44421275	missense	probably benign	0.33
IGL01340:Cfap44	APN	16	44404130	missense	probably damaging	1.00
IGL01530:Cfap44	APN	16	44449167	missense	probably damaging	1.00
IGL02083:Cfap44	APN	16	44437162	missense	probably damaging	1.00
IGL02088:Cfap44	APN	16	44451628	missense	possibly damaging	0.59
IGL02142:Cfap44	APN	16	44421144	missense	probably benign	0.15
IGL02311:Cfap44	APN	16	44404771	splice site	probably benign
IGL02574:Cfap44	APN	16	44481383	missense	probably damaging	1.00
IGL02893:Cfap44	APN	16	44416817	missense	probably damaging	1.00
IGL02959:Cfap44	APN	16	44470867	splice site	probably benign
IGL03291:Cfap44	APN	16	44407311	missense	possibly damaging	0.86
feldgrau	UTSW	16	44433666	nonsense	probably null
I2288:Cfap44	UTSW	16	44449138	nonsense	probably null
R0023:Cfap44	UTSW	16	44421220	missense	probably benign	0.01
R0023:Cfap44	UTSW	16	44421220	missense	probably benign	0.01
R0036:Cfap44	UTSW	16	44439069	missense	possibly damaging	0.83
R0139:Cfap44	UTSW	16	44433422	missense	possibly damaging	0.90
R0145:Cfap44	UTSW	16	44468372	missense	probably damaging	1.00
R0193:Cfap44	UTSW	16	44449210	splice site	probably null
R0238:Cfap44	UTSW	16	44422318	missense	probably benign
R0238:Cfap44	UTSW	16	44422318	missense	probably benign
R0288:Cfap44	UTSW	16	44415894	splice site	probably benign
R0367:Cfap44	UTSW	16	44433476	critical splice donor site	probably null
R0452:Cfap44	UTSW	16	44431945	missense	probably benign	0.01
R0531:Cfap44	UTSW	16	44401426	start codon destroyed	probably benign	0.01
R0722:Cfap44	UTSW	16	44404676	missense	possibly damaging	0.94
R0801:Cfap44	UTSW	16	44422486	missense	probably benign	0.41
R1209:Cfap44	UTSW	16	44422417	missense	possibly damaging	0.86
R1215:Cfap44	UTSW	16	44419303	missense	probably damaging	1.00
R1385:Cfap44	UTSW	16	44470775	missense	probably damaging	1.00
R1400:Cfap44	UTSW	16	44421212	missense	probably benign	0.01
R1415:Cfap44	UTSW	16	44481389	missense	probably damaging	0.99
R1475:Cfap44	UTSW	16	44433812	splice site	probably benign
R1901:Cfap44	UTSW	16	44422374	missense	probably benign	0.00
R1902:Cfap44	UTSW	16	44422374	missense	probably benign	0.00
R1903:Cfap44	UTSW	16	44422374	missense	probably benign	0.00
R2023:Cfap44	UTSW	16	44416012	missense	probably benign	0.01
R2126:Cfap44	UTSW	16	44410475	missense	probably benign	0.40
R2147:Cfap44	UTSW	16	44451684	missense	probably benign	0.31
R2233:Cfap44	UTSW	16	44451525	missense	probably benign	0.01
R2439:Cfap44	UTSW	16	44481246	unclassified	probably benign
R3015:Cfap44	UTSW	16	44410469	missense	probably benign	0.40
R4178:Cfap44	UTSW	16	44451853	missense	possibly damaging	0.81
R4421:Cfap44	UTSW	16	44422437	missense	probably damaging	1.00
R4516:Cfap44	UTSW	16	44473864	nonsense	probably null
R4742:Cfap44	UTSW	16	44449252	splice site	probably null
R4766:Cfap44	UTSW	16	44415883	splice site	probably null
R4810:Cfap44	UTSW	16	44451535	missense	probably damaging	0.99
R4955:Cfap44	UTSW	16	44475277	missense	possibly damaging	0.75
R5164:Cfap44	UTSW	16	44481389	missense	probably damaging	0.99
R5172:Cfap44	UTSW	16	44449193	missense	probably benign
R5344:Cfap44	UTSW	16	44416400	critical splice donor site	probably null
R5519:Cfap44	UTSW	16	44404088	missense	probably damaging	1.00
R5572:Cfap44	UTSW	16	44481305	missense	possibly damaging	0.95
R5601:Cfap44	UTSW	16	44460186	missense	probably damaging	1.00
R5625:Cfap44	UTSW	16	44460347	splice site	probably null
R5638:Cfap44	UTSW	16	44455531	missense	possibly damaging	0.94
R5727:Cfap44	UTSW	16	44435442	missense	probably damaging	0.98
R5950:Cfap44	UTSW	16	44479847	missense	probably damaging	0.99
R6057:Cfap44	UTSW	16	44449097	missense	probably benign	0.03
R6063:Cfap44	UTSW	16	44429892	missense	probably benign	0.00
R6221:Cfap44	UTSW	16	44437186	missense	probably benign	0.13
R6277:Cfap44	UTSW	16	44437306	missense	probably benign	0.04
R6322:Cfap44	UTSW	16	44433666	nonsense	probably null
R6836:Cfap44	UTSW	16	44404079	missense	probably damaging	0.99
R6854:Cfap44	UTSW	16	44449028	critical splice acceptor site	probably null
R6889:Cfap44	UTSW	16	44404132	missense	probably benign	0.03
R7233:Cfap44	UTSW	16	44422408	missense	probably damaging	0.99
R7294:Cfap44	UTSW	16	44404893	intron	probably benign
R7298:Cfap44	UTSW	16	44481412	missense	probably benign	0.04
R7332:Cfap44	UTSW	16	44429828	missense	probably damaging	1.00
R7410:Cfap44	UTSW	16	44468413	missense	probably damaging	1.00
R7455:Cfap44	UTSW	16	44404784	intron	probably benign
R7456:Cfap44	UTSW	16	44431942	missense	probably benign	0.07
R7491:Cfap44	UTSW	16	44470748	missense	probably damaging	1.00
R7587:Cfap44	UTSW	16	44404106	missense	probably benign	0.02
R7698:Cfap44	UTSW	16	44433786	missense	probably damaging	0.99
R7717:Cfap44	UTSW	16	44429935	missense	probably damaging	0.97
R7953:Cfap44	UTSW	16	44413691	missense	probably benign	0.00
R7994:Cfap44	UTSW	16	44432138	missense	probably damaging	0.97
R8043:Cfap44	UTSW	16	44413691	missense	probably benign	0.00
R8238:Cfap44	UTSW	16	44415305	splice site	probably null
R8338:Cfap44	UTSW	16	44419335	critical splice donor site	probably null
R8678:Cfap44	UTSW	16	44475273	missense	probably damaging	1.00
R8680:Cfap44	UTSW	16	44404722	missense	probably damaging	0.98
R8785:Cfap44	UTSW	16	44455532	missense	probably damaging	0.99
R8922:Cfap44	UTSW	16	44451667	missense	probably benign	0.23
R9005:Cfap44	UTSW	16	44460154	missense	probably damaging	1.00
R9020:Cfap44	UTSW	16	44437159	missense	probably damaging	0.99
R9110:Cfap44	UTSW	16	44435560	missense	probably damaging	0.98
R9111:Cfap44	UTSW	16	44431963	missense	probably benign	0.00
R9126:Cfap44	UTSW	16	44475256	missense	possibly damaging	0.77
R9187:Cfap44	UTSW	16	44404781	intron	probably benign
R9194:Cfap44	UTSW	16	44468461	missense	probably damaging	1.00
R9251:Cfap44	UTSW	16	44408913	missense	probably damaging	0.99
R9334:Cfap44	UTSW	16	44419291	missense	probably damaging	0.98
R9336:Cfap44	UTSW	16	44422444	missense	probably damaging	0.97
V1662:Cfap44	UTSW	16	44449138	nonsense	probably null
X0060:Cfap44	UTSW	16	44449074	missense	possibly damaging	0.83
Z1088:Cfap44	UTSW	16	44401466	missense	probably damaging	0.98
Z1177:Cfap44	UTSW	16	44432044	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAGAATGCTGTATGACCTTATTGTC -3'
(R):5'- GATGTGTGGAGCTCATTGAAATCAC -3'

Sequencing Primer
(F):5'- CATAGTAATATGTATTGGGTGGGCG -3'
(R):5'- AATGATCTTCCTTGACGGACG -3'

Posted On

2016-06-06