Mutagenetix > Incidental Mutation

Incidental Mutation 'R8018:Dnaaf4'

642054

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf4

Ensembl Gene

ENSMUSG00000092192

Gene Name

dynein axonemal assembly factor 4

Synonyms

EKN1, Dyx1c1, 1700010I24Rik, b2b811Clo

MMRRC Submission

067458-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.809) question?

Stock #

R8018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72866067-72880346 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 72879598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034734] [ENSMUST00000098567] [ENSMUST00000149692]

AlphaFold

Q8R368

Predicted Effect

probably benign
Transcript: ENSMUST00000034734

SMART Domains

Protein: ENSMUSP00000034734
Gene: ENSMUSG00000092192

Domain	Start	End	E-Value	Type
Pfam:CS	6	77	5.8e-9	PFAM
coiled coil region	101	161	N/A	INTRINSIC
TPR	288	321	2.56e1	SMART
TPR	322	355	1.26e-1	SMART
TPR	364	397	2.59e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098567

SMART Domains

Protein: ENSMUSP00000096166
Gene: ENSMUSG00000092192

Domain	Start	End	E-Value	Type
Pfam:CS	6	77	1.3e-14	PFAM
TPR	168	201	2.56e1	SMART
TPR	202	235	1.26e-1	SMART
TPR	244	277	2.59e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149692

SMART Domains

Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865

Domain	Start	End	E-Value	Type
Pfam:CS	6	77	2.1e-9	PFAM
coiled coil region	101	161	N/A	INTRINSIC
Pfam:TPR_11	286	352	2e-14	PFAM
Pfam:TPR_1	322	352	5.6e-6	PFAM
Blast:TPR	364	386	1e-5	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit both pre- and postnatal lethality, hydrocephalus, and defects in organ laterality and ciliary motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,880,991 (GRCm39)	T146I	unknown	Het
Abca16	A	G	7: 120,132,866 (GRCm39)	E1265G	probably benign	Het
Adar	T	C	3: 89,654,882 (GRCm39)	S924P	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankmy1	A	T	1: 92,814,003 (GRCm39)	L392Q	probably benign	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Ccdc158	T	C	5: 92,771,260 (GRCm39)	D985G	possibly damaging	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Ctbp2	T	C	7: 132,616,095 (GRCm39)	K280R	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dynap	T	C	18: 70,375,093 (GRCm39)	T41A	possibly damaging	Het
Elfn2	A	G	15: 78,557,968 (GRCm39)	L193P	probably damaging	Het
Fcrl2	A	T	3: 87,166,933 (GRCm39)	L20*	probably null	Het
Flcn	T	C	11: 59,684,948 (GRCm39)	D501G	probably damaging	Het
Gmip	A	G	8: 70,268,143 (GRCm39)	E399G	probably benign	Het
Grm7	A	G	6: 111,184,737 (GRCm39)	E356G	probably benign	Het
Hs3st2	A	G	7: 121,099,639 (GRCm39)		probably null	Het
Kcnh2	G	A	5: 24,525,014 (GRCm39)	S1158L	probably damaging	Het
Lancl2	A	G	6: 57,690,078 (GRCm39)	T104A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Mthfd2l	T	A	5: 91,107,672 (GRCm39)	I178N	probably damaging	Het
Nbeal2	G	T	9: 110,458,225 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,006 (GRCm39)	K564*	probably null	Het
Nipal3	C	T	4: 135,174,659 (GRCm39)	R364H	possibly damaging	Het
Or2b4	A	G	17: 38,116,038 (GRCm39)	M1V	probably null	Het
Oxa1l	A	G	14: 54,600,757 (GRCm39)	I77V	not run	Het
Phf10	T	A	17: 15,174,378 (GRCm39)	Q233H	possibly damaging	Het
Pias2	T	A	18: 77,216,654 (GRCm39)	N288K	probably benign	Het
Pramel43	T	C	5: 94,761,839 (GRCm39)	N244S	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Ralgapa2	T	C	2: 146,182,311 (GRCm39)	D1676G	probably damaging	Het
Rapgefl1	T	G	11: 98,731,166 (GRCm39)		probably null	Het
Rrp7a	C	T	15: 83,001,125 (GRCm39)	E269K	possibly damaging	Het
Ryr3	A	C	2: 112,508,777 (GRCm39)	M3399R	probably damaging	Het
Secisbp2l	C	A	2: 125,587,829 (GRCm39)	R762L	probably damaging	Het
Smad7	T	G	18: 75,502,355 (GRCm39)	L110R	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tcea3	T	G	4: 135,985,229 (GRCm39)		probably benign	Het
Tdrd9	T	C	12: 111,999,180 (GRCm39)	V765A	probably benign	Het
Tdrd9	C	T	12: 112,010,822 (GRCm39)	R1130W	probably damaging	Het
Tia1	C	T	6: 86,402,034 (GRCm39)	P189S	probably benign	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Ubxn8	A	G	8: 34,113,243 (GRCm39)	C204R	probably damaging	Het
Vmn1r76	A	G	7: 11,664,810 (GRCm39)	S135P	probably damaging	Het
Vps18	T	A	2: 119,124,492 (GRCm39)	L473H	probably damaging	Het
Zfp444	A	G	7: 6,191,142 (GRCm39)	T108A	probably benign	Het

Other mutations in Dnaaf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02198:Dnaaf4	APN	9	72,876,348 (GRCm39)	missense	probably benign	0.02
R0211:Dnaaf4	UTSW	9	72,868,649 (GRCm39)	missense	possibly damaging	0.82
R0310:Dnaaf4	UTSW	9	72,879,618 (GRCm39)	missense	probably damaging	1.00
R0712:Dnaaf4	UTSW	9	72,867,939 (GRCm39)	nonsense	probably null
R1791:Dnaaf4	UTSW	9	72,867,966 (GRCm39)	missense	possibly damaging	0.90
R1927:Dnaaf4	UTSW	9	72,867,909 (GRCm39)	missense	probably damaging	0.98
R3085:Dnaaf4	UTSW	9	72,879,688 (GRCm39)	missense	probably benign	0.00
R4624:Dnaaf4	UTSW	9	72,871,453 (GRCm39)	missense	probably benign	0.01
R4998:Dnaaf4	UTSW	9	72,867,960 (GRCm39)	missense	possibly damaging	0.93
R5008:Dnaaf4	UTSW	9	72,879,600 (GRCm39)	intron	probably benign
R5200:Dnaaf4	UTSW	9	72,879,713 (GRCm39)	missense	probably damaging	1.00
R5256:Dnaaf4	UTSW	9	72,879,362 (GRCm39)	critical splice donor site	probably null
R5806:Dnaaf4	UTSW	9	72,869,336 (GRCm39)	missense	probably benign	0.06
R5930:Dnaaf4	UTSW	9	72,879,280 (GRCm39)	missense	probably damaging	1.00
R6751:Dnaaf4	UTSW	9	72,869,257 (GRCm39)	missense	probably benign	0.08
R9373:Dnaaf4	UTSW	9	72,871,462 (GRCm39)	missense	probably damaging	1.00
Z1177:Dnaaf4	UTSW	9	72,869,246 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AATGAAGGCACACGTCCGAC -3'
(R):5'- GCGGTACTGTACAGAGCTACAG -3'

Sequencing Primer
(F):5'- CATGGCCATAGCTCTGTTAGTAGAC -3'
(R):5'- ACAGTACTTGCAGAGACTCCTGTG -3'

Posted On

2020-07-30