Mutagenetix > Incidental Mutation

Incidental Mutation 'R6751:Dnaaf4'

530781

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf4

Ensembl Gene

ENSMUSG00000092192

Gene Name

dynein axonemal assembly factor 4

Synonyms

EKN1, Dyx1c1, 1700010I24Rik, b2b811Clo

MMRRC Submission

044868-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.819) question?

Stock #

R6751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72866067-72880346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72869257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 156 (T156A)

Ref Sequence

ENSEMBL: ENSMUSP00000120629 (fasta)

Gene Model

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

AlphaFold

Q8R368

Predicted Effect

probably benign
Transcript: ENSMUST00000034734
AA Change: T156A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034734
Gene: ENSMUSG00000092192
AA Change: T156A

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
AA Change: T156A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865
AA Change: T156A

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

95% (59/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,771,971 (GRCm39)	N387Y	probably damaging	Het
Abhd17a	T	C	10: 80,422,421 (GRCm39)	E87G	probably damaging	Het
Aco1	T	A	4: 40,188,330 (GRCm39)		probably null	Het
Adcy6	T	C	15: 98,494,086 (GRCm39)	N817S	probably benign	Het
Ak8	T	A	2: 28,599,957 (GRCm39)	L63*	probably null	Het
Arhgef28	G	A	13: 98,211,755 (GRCm39)	S76L	probably damaging	Het
Asap1	A	G	15: 63,966,261 (GRCm39)	L891S	possibly damaging	Het
Cacng5	C	A	11: 107,768,379 (GRCm39)	M209I	probably benign	Het
Casr	T	C	16: 36,335,950 (GRCm39)	I120V	probably benign	Het
Ccnq	T	C	11: 78,641,950 (GRCm39)	Y180C	probably damaging	Het
Chd7	T	C	4: 8,833,866 (GRCm39)	Y1207H	probably damaging	Het
Chrnb2	A	T	3: 89,668,883 (GRCm39)	F144Y	probably damaging	Het
Cyp4a14	T	A	4: 115,348,391 (GRCm39)	H362L	probably damaging	Het
Dym	G	A	18: 75,419,718 (GRCm39)	V630M	probably damaging	Het
Dync2i1	A	T	12: 116,177,076 (GRCm39)	V842E	possibly damaging	Het
Dyrk1b	C	A	7: 27,886,134 (GRCm39)	P619Q	probably damaging	Het
Eml5	T	C	12: 98,831,659 (GRCm39)	D433G	probably damaging	Het
Frem2	A	T	3: 53,561,086 (GRCm39)	S1140R	probably damaging	Het
Gabra5	T	C	7: 57,068,082 (GRCm39)	R255G	probably damaging	Het
Galnt17	T	A	5: 131,110,428 (GRCm39)	I304F	probably damaging	Het
Gpc5	A	G	14: 115,607,363 (GRCm39)	S322G	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,610,269 (GRCm39)	N1467Y	probably damaging	Het
Ifna6	T	C	4: 88,745,987 (GRCm39)	L112P	probably damaging	Het
Ifrd1	C	T	12: 40,253,913 (GRCm39)		probably null	Het
Il17f	A	G	1: 20,849,713 (GRCm39)	M17T	probably benign	Het
Itga11	G	A	9: 62,675,866 (GRCm39)	V892I	probably benign	Het
Nckap5l	A	G	15: 99,321,042 (GRCm39)	L1246P	probably damaging	Het
Nlrp4f	A	T	13: 65,342,243 (GRCm39)	H467Q	probably damaging	Het
Ntng2	A	G	2: 29,118,055 (GRCm39)	V131A	possibly damaging	Het
Or51r1	G	A	7: 102,227,706 (GRCm39)	M1I	probably null	Het
Or8b40	T	G	9: 38,027,271 (GRCm39)	Y60D	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Or8g55	T	C	9: 39,784,976 (GRCm39)	V135A	probably benign	Het
Osbpl8	T	C	10: 111,110,874 (GRCm39)	Y459H	possibly damaging	Het
Pabpc1	A	T	15: 36,597,778 (GRCm39)	V537D	possibly damaging	Het
Pde4b	A	T	4: 102,459,868 (GRCm39)	M583L	probably damaging	Het
Phlda1	T	C	10: 111,342,555 (GRCm39)	V97A	possibly damaging	Het
Pik3cb	G	T	9: 98,976,574 (GRCm39)	H174Q	probably benign	Het
Plxdc2	A	T	2: 16,552,952 (GRCm39)	I117F	probably benign	Het
Psapl1	C	A	5: 36,362,303 (GRCm39)	C298*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Rtkn2	T	A	10: 67,877,283 (GRCm39)	F448I	probably benign	Het
Scn10a	T	C	9: 119,500,617 (GRCm39)	R221G	probably damaging	Het
Serpina3c	A	G	12: 104,117,759 (GRCm39)	L193P	probably damaging	Het
Sox12	T	C	2: 152,238,678 (GRCm39)	Y314C	probably damaging	Het
Spata31h1	A	G	10: 82,119,331 (GRCm39)	S4560P	probably benign	Het
Sptbn1	T	C	11: 30,067,859 (GRCm39)	E1772G	probably damaging	Het
Supt6	A	G	11: 78,099,775 (GRCm39)	V1570A	probably benign	Het
Synrg	T	C	11: 83,872,251 (GRCm39)	F125S	probably damaging	Het
Tenm4	A	T	7: 96,494,919 (GRCm39)	I1116F	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfap2d	C	A	1: 19,173,507 (GRCm39)	H10N	possibly damaging	Het
Trpm8	T	C	1: 88,312,428 (GRCm39)	I1103T	possibly damaging	Het
Vmn1r158	C	T	7: 22,489,306 (GRCm39)	C301Y	probably damaging	Het
Vmn2r56	T	C	7: 12,428,719 (GRCm39)	I516V	probably benign	Het
Vmn2r71	G	A	7: 85,269,095 (GRCm39)		probably null	Het
Vnn3	C	T	10: 23,745,523 (GRCm39)	R491C	probably benign	Het
Vps50	A	G	6: 3,600,274 (GRCm39)	Y911C	probably damaging	Het
Zfp772	C	T	7: 7,206,716 (GRCm39)	R325Q	possibly damaging	Het
Zranb3	T	A	1: 127,887,556 (GRCm39)	H957L	probably benign	Het
Zscan20	G	T	4: 128,479,668 (GRCm39)	T941K	probably damaging	Het
Zscan25	T	A	5: 145,227,373 (GRCm39)	F346I	probably damaging	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
R8018:Dnaaf4	UTSW	9	72,879,598 (GRCm39)	intron	probably benign
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'- CTGAAACCCAGGCTCTTATCCC -3'
(R):5'- GCAAAGGTCTTCCATCTTACGTC -3'

Sequencing Primer
(F):5'- AGGCTCTTATCCCAAGGCTCAG -3'
(R):5'- GCCTATGCCTGCAAAAAGATTTC -3'

Posted On

2018-08-01