Mutagenetix > Incidental Mutation

Incidental Mutation 'R5806:Dnaaf4'

448520

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf4

Ensembl Gene

ENSMUSG00000092192

Gene Name

dynein axonemal assembly factor 4

Synonyms

EKN1, Dyx1c1, 1700010I24Rik, b2b811Clo

MMRRC Submission

043392-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.819) question?

Stock #

R5806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72866067-72880346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72869336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 182 (L182P)

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: L182P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034734
Gene: ENSMUSG00000092192
AA Change: L182P

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: L182P

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865
AA Change: L182P

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,388,731 (GRCm39)	M216T	probably benign	Het
Abhd4	A	G	14: 54,499,147 (GRCm39)	N36D	probably benign	Het
Ankra2	T	C	13: 98,405,005 (GRCm39)		probably null	Het
Btd	A	G	14: 31,389,469 (GRCm39)	T397A	probably benign	Het
Ccbe1	T	A	18: 66,209,426 (GRCm39)	K205*	probably null	Het
Clspn	A	G	4: 126,479,899 (GRCm39)	K1081E	probably damaging	Het
Cmya5	A	G	13: 93,230,445 (GRCm39)	S1548P	possibly damaging	Het
Coq8b	T	A	7: 26,950,050 (GRCm39)	Y376*	probably null	Het
Cpxm1	C	A	2: 130,239,393 (GRCm39)	A12S	probably damaging	Het
Cttn	T	C	7: 144,015,005 (GRCm39)	T68A	probably damaging	Het
Cyp2a12	T	A	7: 26,728,504 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,811,150 (GRCm39)	Q582R	possibly damaging	Het
Ddx55	A	G	5: 124,697,262 (GRCm39)	E208G	probably damaging	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Ep400	A	T	5: 110,903,420 (GRCm39)	L393*	probably null	Het
Ern1	G	C	11: 106,289,531 (GRCm39)	S924C	probably damaging	Het
Fanci	T	C	7: 79,098,596 (GRCm39)	I1249T	probably damaging	Het
Fgfbp3	T	G	19: 36,895,949 (GRCm39)	D223A	probably damaging	Het
Frmd6	T	C	12: 70,936,794 (GRCm39)	L313P	probably damaging	Het
Galnt17	A	G	5: 130,906,657 (GRCm39)	Y504H	probably damaging	Het
Gjb5	A	G	4: 127,249,718 (GRCm39)	I142T	probably benign	Het
Gvin1	T	C	7: 105,757,413 (GRCm39)	D2352G	probably benign	Het
H2-M2	G	A	17: 37,792,617 (GRCm39)	T218I	probably damaging	Het
Hal	A	G	10: 93,326,846 (GRCm39)	T161A	probably damaging	Het
Helb	G	A	10: 119,928,424 (GRCm39)	R806C	probably damaging	Het
Ift80	T	A	3: 68,857,809 (GRCm39)	I279F	probably benign	Het
Itln1	A	T	1: 171,358,720 (GRCm39)	I149N	possibly damaging	Het
Kcnt2	A	C	1: 140,437,234 (GRCm39)	T556P	probably damaging	Het
Klk1b22	A	T	7: 43,765,301 (GRCm39)	E84D	possibly damaging	Het
Krt78	A	G	15: 101,858,937 (GRCm39)	L305P	probably damaging	Het
Lzts2	T	C	19: 45,014,806 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,265,680 (GRCm39)	L6843P	probably damaging	Het
Magi2	C	A	5: 20,856,202 (GRCm39)	H841Q	probably benign	Het
Mdm1	A	T	10: 118,002,563 (GRCm39)	H628L	probably benign	Het
Med23	A	G	10: 24,783,119 (GRCm39)	D734G	probably damaging	Het
Mfsd13a	T	C	19: 46,354,849 (GRCm39)	W9R	probably benign	Het
Mki67	T	C	7: 135,306,334 (GRCm39)	H576R	probably damaging	Het
Muc5b	A	G	7: 141,416,572 (GRCm39)	T3173A	possibly damaging	Het
Mx1	A	T	16: 97,255,351 (GRCm39)	V234E	possibly damaging	Het
Myh2	T	C	11: 67,072,141 (GRCm39)	L623P	probably damaging	Het
Naip1	C	T	13: 100,581,243 (GRCm39)	M1I	probably null	Het
Ncapd2	A	T	6: 125,158,117 (GRCm39)	V337E	probably damaging	Het
Nit2	G	A	16: 56,982,056 (GRCm39)	T64M	possibly damaging	Het
Or1e34	A	T	11: 73,778,373 (GRCm39)	M275K	probably damaging	Het
Or4c103	T	C	2: 88,513,495 (GRCm39)	N194D	probably damaging	Het
Or6e1	A	T	14: 54,520,264 (GRCm39)	F29L	probably benign	Het
Otub2	A	G	12: 103,369,656 (GRCm39)	E245G	probably benign	Het
Pde8b	T	C	13: 95,178,548 (GRCm39)	K524R	probably damaging	Het
Pih1d2	C	T	9: 50,529,750 (GRCm39)		probably benign	Het
Pik3cg	T	A	12: 32,254,952 (GRCm39)	D345V	possibly damaging	Het
Plekhg4	A	T	8: 106,105,542 (GRCm39)	Q669L	possibly damaging	Het
Prlr	A	T	15: 10,319,290 (GRCm39)	Y73F	probably damaging	Het
Ptk6	T	C	2: 180,841,523 (GRCm39)	I129V	possibly damaging	Het
Ranbp3	A	T	17: 57,017,717 (GRCm39)	T458S	probably benign	Het
Ren1	T	A	1: 133,283,249 (GRCm39)	Y128*	probably null	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rnf222	T	C	11: 68,783,789 (GRCm39)	S119P	possibly damaging	Het
Rrbp1	T	A	2: 143,805,251 (GRCm39)	E1007V	probably benign	Het
Septin11	G	A	5: 93,315,437 (GRCm39)	E389K	probably benign	Het
Setbp1	A	G	18: 78,899,697 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 108,987,894 (GRCm39)	S12P	probably benign	Het
Slc26a5	A	C	5: 22,028,561 (GRCm39)	F336V	probably damaging	Het
Slc5a6	T	C	5: 31,198,114 (GRCm39)	T254A	probably damaging	Het
Smcr8	G	T	11: 60,671,208 (GRCm39)		probably null	Het
Srcap	A	T	7: 127,158,335 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,179 (GRCm39)	I509N	probably damaging	Het
Tcf25	T	A	8: 124,108,243 (GRCm39)	H99Q	probably benign	Het
Tmem40	A	G	6: 115,713,373 (GRCm39)	V76A	probably benign	Het
Tnni3k	A	T	3: 154,533,248 (GRCm39)	S740T	possibly damaging	Het
Top3a	A	G	11: 60,667,746 (GRCm39)		probably null	Het
Tpd52l2	C	A	2: 181,144,680 (GRCm39)	T109K	probably damaging	Het
Tsnaxip1	C	A	8: 106,564,128 (GRCm39)	D109E	possibly damaging	Het
Uty	G	T	Y: 1,170,921 (GRCm39)	D313E	probably damaging	Het
Zfp143	A	T	7: 109,685,442 (GRCm39)	K423*	probably null	Het
Zfp407	C	T	18: 84,576,739 (GRCm39)	G1458D	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
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
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

Posted On

2016-12-15