Mutagenetix > Incidental Mutation

Incidental Mutation 'R7407:Deaf1'

574793

Institutional Source

Beutler Lab

Gene Symbol

Deaf1

Ensembl Gene

ENSMUSG00000058886

Gene Name

DEAF1, transcription factor

Synonyms

C230009B13Rik, NUDR, suppressin

MMRRC Submission

045488-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R7407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140877093-140907603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140877492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 545 (A545V)

Ref Sequence

ENSEMBL: ENSMUSP00000079395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026569] [ENSMUST00000080553] [ENSMUST00000211146] [ENSMUST00000211537]

AlphaFold

Q9Z1T5

PDB Structure

LMO4-LIM2 in complex with DEAF1 (404-418) [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000026569

SMART Domains

Protein: ENSMUSP00000026569
Gene: ENSMUSG00000025496

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	40	182	9.6e-9	PFAM
Pfam:7tm_1	48	368	1.8e-71	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080553
AA Change: A545V

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886
AA Change: A545V

Domain	Start	End	E-Value	Type
SCOP:d1gkub1	6	35	9e-3	SMART
low complexity region	43	68	N/A	INTRINSIC
low complexity region	88	105	N/A	INTRINSIC
low complexity region	167	186	N/A	INTRINSIC
SAND	202	274	9.78e-40	SMART
low complexity region	277	286	N/A	INTRINSIC
low complexity region	324	338	N/A	INTRINSIC
Pfam:zf-MYND	505	541	8.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210062

Predicted Effect

probably benign
Transcript: ENSMUST00000211146

Predicted Effect

probably benign
Transcript: ENSMUST00000211537

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit frequent exencephaly associated with neonatal lethality, rib cage abnormalities, and a low frequency of homeotic transformations of cervical segments but no presphenoid bone or cranial nerve defects; non-exencephalic survivors are healthy and fertile. [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
4933405O20Rik	A	G	7: 50,249,626 (GRCm39)	N220S	probably damaging	Het
Abcb8	T	C	5: 24,605,674 (GRCm39)	V186A	probably benign	Het
Actbl2	A	T	13: 111,392,752 (GRCm39)	E362D	probably damaging	Het
Adamts17	C	A	7: 66,697,304 (GRCm39)	Y28*	probably null	Het
Agtr1b	T	C	3: 20,369,895 (GRCm39)	D237G	possibly damaging	Het
Amer2	A	G	14: 60,616,291 (GRCm39)	D162G	probably damaging	Het
Ankub1	T	C	3: 57,572,624 (GRCm39)	E366G	probably benign	Het
Ap5z1	A	G	5: 142,452,330 (GRCm39)	I88V	probably benign	Het
Ccdc186	T	C	19: 56,801,817 (GRCm39)	N100S	probably benign	Het
Cldn19	A	G	4: 119,112,882 (GRCm39)	D38G	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Dicer1	G	T	12: 104,688,610 (GRCm39)	Y322*	probably null	Het
Dnajb7	G	T	15: 81,291,827 (GRCm39)	T170K	possibly damaging	Het
Flrt2	A	T	12: 95,746,074 (GRCm39)	E137D	probably damaging	Het
Galnt12	T	C	4: 47,120,362 (GRCm39)	F482L	probably damaging	Het
Gm32742	A	G	9: 51,067,974 (GRCm39)	V336A	probably damaging	Het
Gpatch8	G	A	11: 102,370,656 (GRCm39)	R961W	unknown	Het
Hcn4	A	G	9: 58,766,653 (GRCm39)	E738G	unknown	Het
Kdelr3	A	G	15: 79,409,039 (GRCm39)	Y76C	probably damaging	Het
Krt77	T	C	15: 101,768,530 (GRCm39)	S494G	unknown	Het
Letmd1	G	T	15: 100,367,119 (GRCm39)	A39S	probably benign	Het
Lrrc7	G	A	3: 157,840,878 (GRCm39)	R1387W	probably damaging	Het
Meltf	T	C	16: 31,713,553 (GRCm39)	Y599H	probably damaging	Het
Mybpc1	T	A	10: 88,385,209 (GRCm39)	I477L	probably damaging	Het
Nf1	A	G	11: 79,338,969 (GRCm39)	D1174G	probably damaging	Het
Or2t6	T	A	14: 14,175,402 (GRCm38)	I227L	probably benign	Het
Or8b44	T	A	9: 38,410,800 (GRCm39)	Y278*	probably null	Het
Palld	G	T	8: 61,968,975 (GRCm39)	S1283*	probably null	Het
Pcmtd2	T	C	2: 181,488,398 (GRCm39)	V183A	possibly damaging	Het
Pcsk5	T	A	19: 17,652,880 (GRCm39)	I269F	probably damaging	Het
Pkd1	T	C	17: 24,813,568 (GRCm39)	L4036P	probably damaging	Het
Pkhd1l1	A	G	15: 44,458,407 (GRCm39)	N4151S	possibly damaging	Het
Rcor3	C	T	1: 191,785,972 (GRCm39)	S422N	probably benign	Het
Rhag	A	G	17: 41,142,225 (GRCm39)	I223V	possibly damaging	Het
Ssbp4	A	G	8: 71,051,672 (GRCm39)	Y231H	probably damaging	Het
Syce1l	C	T	8: 114,381,770 (GRCm39)	Q237*	probably null	Het
Tenm4	T	C	7: 96,423,194 (GRCm39)	V663A	possibly damaging	Het
Timd6	A	G	11: 46,468,217 (GRCm39)	Y97C	probably damaging	Het
Trim6	T	C	7: 103,875,108 (GRCm39)	I115T	probably damaging	Het
Vinac1	A	G	2: 128,880,729 (GRCm39)	I399T		Het
Vmn1r25	T	A	6: 57,956,044 (GRCm39)	T82S	possibly damaging	Het
Vmn2r28	A	G	7: 5,484,308 (GRCm39)	S631P	probably damaging	Het
Xpo1	T	A	11: 23,235,823 (GRCm39)	V637E	probably damaging	Het
Xpo6	A	T	7: 125,770,224 (GRCm39)	M62K	probably damaging	Het
Ypel5	A	G	17: 73,153,374 (GRCm39)	N26S	possibly damaging	Het
Zbtb24	C	A	10: 41,340,775 (GRCm39)	Q624K	possibly damaging	Het
Zfp629	T	C	7: 127,209,415 (GRCm39)	D798G	probably benign	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	Het

Other mutations in Deaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02306:Deaf1	APN	7	140,904,094 (GRCm39)	critical splice acceptor site	probably null
IGL02393:Deaf1	APN	7	140,893,246 (GRCm39)	missense	possibly damaging	0.95
IGL03108:Deaf1	APN	7	140,902,874 (GRCm39)	missense	probably damaging	1.00
IGL03344:Deaf1	APN	7	140,877,461 (GRCm39)	missense	probably benign	0.08
Qball	UTSW	7	140,902,381 (GRCm39)	missense	probably damaging	1.00
R1543:Deaf1	UTSW	7	140,904,060 (GRCm39)	missense	possibly damaging	0.65
R1702:Deaf1	UTSW	7	140,894,867 (GRCm39)	missense	probably damaging	1.00
R2849:Deaf1	UTSW	7	140,894,367 (GRCm39)	makesense	probably null
R4600:Deaf1	UTSW	7	140,890,884 (GRCm39)	missense	possibly damaging	0.59
R4611:Deaf1	UTSW	7	140,890,884 (GRCm39)	missense	possibly damaging	0.59
R4649:Deaf1	UTSW	7	140,877,486 (GRCm39)	missense	possibly damaging	0.59
R4953:Deaf1	UTSW	7	140,902,381 (GRCm39)	missense	probably damaging	1.00
R6349:Deaf1	UTSW	7	140,902,863 (GRCm39)	missense	possibly damaging	0.74
R7168:Deaf1	UTSW	7	140,904,509 (GRCm39)	intron	probably benign
R7186:Deaf1	UTSW	7	140,907,383 (GRCm39)	missense	probably benign
R7343:Deaf1	UTSW	7	140,902,871 (GRCm39)	missense	probably damaging	1.00
R8190:Deaf1	UTSW	7	140,894,324 (GRCm39)	missense	probably damaging	1.00
R8692:Deaf1	UTSW	7	140,877,444 (GRCm39)	missense	probably benign	0.04
R9008:Deaf1	UTSW	7	140,904,078 (GRCm39)	missense	probably damaging	0.96
R9089:Deaf1	UTSW	7	140,877,465 (GRCm39)	missense	probably damaging	1.00
Z1176:Deaf1	UTSW	7	140,881,387 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGAGCTTGTTTCCAAGGGC -3'
(R):5'- CGTTCCCTGACTAACAGCAC -3'

Sequencing Primer
(F):5'- GTTTCCAAGGGCACAATCTG -3'
(R):5'- CACAAACAGCCCCCTTAGTGTG -3'

Posted On

2019-10-07