Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Deaf1'

350594

Institutional Source

Beutler Lab

Gene Symbol

Deaf1

Ensembl Gene

ENSMUSG00000058886

Gene Name

DEAF1, transcription factor

Synonyms

C230009B13Rik, NUDR, suppressin

MMRRC Submission

041910-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R4649 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

140877093-140907603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140877486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 547 (V547A)

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: V547A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886
AA Change: V547A

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

unknown
Transcript: ENSMUST00000209600
AA Change: V112A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209649

Predicted Effect

probably benign
Transcript: ENSMUST00000210062

Predicted Effect

probably benign
Transcript: ENSMUST00000211146

Predicted Effect

probably benign
Transcript: ENSMUST00000211537

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,963,542 (GRCm39)	V841F	probably damaging	Het
Adcy10	G	A	1: 165,331,618 (GRCm39)	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,344,571 (GRCm39)	M127I	probably damaging	Het
Agpat5	A	G	8: 18,929,668 (GRCm39)	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,676,213 (GRCm39)	Y186N	possibly damaging	Het
Alx1	A	T	10: 102,845,193 (GRCm39)	N279K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Arsi	A	G	18: 61,050,170 (GRCm39)	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,201,581 (GRCm39)	R155W	probably damaging	Het
BC028528	T	C	3: 95,795,577 (GRCm39)	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,200,970 (GRCm39)	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Bzw2	A	T	12: 36,173,980 (GRCm39)	V98E	probably null	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Cd19	A	G	7: 126,013,664 (GRCm39)	S42P	probably benign	Het
Chml	A	G	1: 175,514,962 (GRCm39)	S138P	probably benign	Het
Clic6	T	G	16: 92,327,827 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,547,076 (GRCm39)	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,527,361 (GRCm39)	E82K	probably benign	Het
Csmd2	G	A	4: 128,439,866 (GRCm39)	V3107M	probably benign	Het
Cspg4	T	A	9: 56,794,149 (GRCm39)	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,001,637 (GRCm39)	R315Q	possibly damaging	Het
Dmxl1	C	T	18: 50,011,698 (GRCm39)	T1285I	probably damaging	Het
Dnah3	C	A	7: 119,646,921 (GRCm39)	W1036L	probably damaging	Het
Dnai3	A	G	3: 145,753,922 (GRCm39)	S713P	probably damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,735,302 (GRCm39)	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,523,304 (GRCm39)	H12L	probably damaging	Het
Enam	T	C	5: 88,640,827 (GRCm39)	M163T	probably benign	Het
Fbxo22	T	A	9: 55,128,333 (GRCm39)	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,767,085 (GRCm39)	K148N	probably damaging	Het
Foxi3	A	G	6: 70,933,960 (GRCm39)	D149G	probably damaging	Het
Gbp8	C	T	5: 105,189,807 (GRCm39)	G75D	probably damaging	Het
Gm10784	C	T	13: 50,099,251 (GRCm39)		noncoding transcript	Het
Gm7247	G	A	14: 51,807,051 (GRCm39)		probably null	Het
Grik3	T	A	4: 125,544,278 (GRCm39)	V333E	probably damaging	Het
Gsap	A	T	5: 21,431,309 (GRCm39)	D211V	probably damaging	Het
H2-T15	T	C	17: 36,368,768 (GRCm39)	Y104C	possibly damaging	Het
Ino80	T	C	2: 119,261,489 (GRCm39)	N725S	probably damaging	Het
Itgad	A	G	7: 127,788,703 (GRCm39)	I443V	probably benign	Het
Itsn1	T	A	16: 91,638,476 (GRCm39)	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,285,783 (GRCm39)		probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850 (GRCm39)	Q41K	probably benign	Het
Mapk13	C	T	17: 28,997,461 (GRCm39)	R360*	probably null	Het
Mapk8ip3	T	A	17: 25,123,726 (GRCm39)	I599F	probably damaging	Het
Me1	T	C	9: 86,561,905 (GRCm39)	K60R	probably benign	Het
Mga	T	A	2: 119,771,974 (GRCm39)	D1532E	possibly damaging	Het
Miga1	G	A	3: 151,984,642 (GRCm39)	S427L	probably benign	Het
Mknk2	A	T	10: 80,505,173 (GRCm39)	V186E	probably damaging	Het
Myo1a	C	A	10: 127,546,086 (GRCm39)	N236K	probably benign	Het
Myt1	A	G	2: 181,439,207 (GRCm39)	D243G	probably benign	Het
Ncf4	T	C	15: 78,140,189 (GRCm39)	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,117,603 (GRCm39)	L442F	probably damaging	Het
Olfm4	G	A	14: 80,258,747 (GRCm39)	D332N	probably benign	Het
Or4a81	C	A	2: 89,619,637 (GRCm39)	V20F	probably benign	Het
Or4b1d	T	A	2: 89,969,432 (GRCm39)	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,016,452 (GRCm39)	M69K	probably benign	Het
Oxnad1	T	A	14: 31,824,366 (GRCm39)	*312K	probably null	Het
Plekhg1	A	G	10: 3,906,985 (GRCm39)	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,882,691 (GRCm39)	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,856,941 (GRCm39)	H132R	probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pudp	T	C	18: 50,701,259 (GRCm39)	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Ranbp3	T	A	17: 57,003,640 (GRCm39)		probably null	Het
Ranbp6	A	G	19: 29,787,721 (GRCm39)	V877A	probably benign	Het
Rgsl1	A	T	1: 153,693,328 (GRCm39)	S618T	probably benign	Het
Rhox2a	A	T	X: 36,509,015 (GRCm39)	I61L	probably benign	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rnf207	A	C	4: 152,396,612 (GRCm39)	D466E	probably benign	Het
Rnf7	A	G	9: 96,353,883 (GRCm39)	I80T	probably benign	Het
Ros1	T	A	10: 52,005,764 (GRCm39)	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,861,096 (GRCm39)		probably null	Het
Sbk1	T	C	7: 125,890,301 (GRCm39)	S105P	probably damaging	Het
Sdk1	T	C	5: 141,992,380 (GRCm39)	Y790H	probably damaging	Het
Sec62	T	A	3: 30,864,683 (GRCm39)	N182K	unknown	Het
Slc15a1	T	C	14: 121,715,504 (GRCm39)	Y345C	probably damaging	Het
Slc27a1	G	A	8: 72,023,408 (GRCm39)	A15T	probably benign	Het
Slc35d1	A	G	4: 103,070,426 (GRCm39)	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,233,136 (GRCm39)	S333C	probably benign	Het
Tarbp1	A	G	8: 127,173,934 (GRCm39)	S927P	probably damaging	Het
Tns1	A	G	1: 73,992,930 (GRCm39)	S583P	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trim40	T	C	17: 37,193,531 (GRCm39)		probably null	Het
Trim42	C	A	9: 97,244,998 (GRCm39)	V601L	probably benign	Het
Trpc7	G	A	13: 57,035,367 (GRCm39)	R189C	probably damaging	Het
Ttc29	A	T	8: 79,060,208 (GRCm39)	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 84,870,743 (GRCm39)	A847S	probably benign	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly damaging	Het
Zfat	A	G	15: 68,056,325 (GRCm39)	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,615,784 (GRCm39)	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349 (GRCm39)	N438K	probably benign	Het
Zfp952	T	A	17: 33,221,899 (GRCm39)	V88E	probably damaging	Het
Znfx1	G	T	2: 166,898,276 (GRCm39)	A216D	probably benign	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
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
R7407:Deaf1	UTSW	7	140,877,492 (GRCm39)	missense	possibly damaging	0.88
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'- AGGAGCTTGTTTCCAAGGGC -3'
(R):5'- GAAACGTTCCCTGACTAACAGC -3'

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

Posted On

2015-10-08