Mutagenetix > Incidental Mutation

Incidental Mutation 'R7343:Deaf1'

570016

Institutional Source

Beutler Lab

Gene Symbol

Deaf1

Ensembl Gene

ENSMUSG00000058886

Gene Name

DEAF1, transcription factor

Synonyms

C230009B13Rik, NUDR, suppressin

MMRRC Submission

045433-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R7343 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140877093-140907603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140902871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 151 (V151D)

Ref Sequence

ENSEMBL: ENSMUSP00000079395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080553] [ENSMUST00000126510] [ENSMUST00000145184] [ENSMUST00000209397] [ENSMUST00000209608] [ENSMUST00000210816] [ENSMUST00000210830] [ENSMUST00000211537]

AlphaFold

Q9Z1T5

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000080553
AA Change: V151D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886
AA Change: V151D

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: ENSMUST00000126510

SMART Domains

Protein: ENSMUSP00000123330
Gene: ENSMUSG00000025505

Domain	Start	End	E-Value	Type
Pfam:Transmemb_17	1	109	1e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145184

SMART Domains

Protein: ENSMUSP00000117633
Gene: ENSMUSG00000025505

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
Pfam:Transmemb_17	25	78	5.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209397

Predicted Effect

probably benign
Transcript: ENSMUST00000209608

Predicted Effect

probably benign
Transcript: ENSMUST00000210816

Predicted Effect

probably damaging
Transcript: ENSMUST00000210830
AA Change: V151D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211537
AA Change: V151D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	C	6: 83,139,353 (GRCm39)	N426T	probably benign	Het
6430548M08Rik	A	G	8: 120,872,327 (GRCm39)	D85G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abcg3	A	T	5: 105,116,100 (GRCm39)	F245I	probably benign	Het
Abhd17a	G	T	10: 80,419,991 (GRCm39)	F231L	possibly damaging	Het
Adgra1	A	T	7: 139,456,058 (GRCm39)	D562V	probably damaging	Het
Akap7	C	A	10: 25,165,567 (GRCm39)		probably benign	Het
Akap9	A	G	5: 4,096,364 (GRCm39)	D2413G	probably damaging	Het
Akr1c18	A	T	13: 4,187,236 (GRCm39)	C193S	probably damaging	Het
Aloxe3	A	T	11: 69,023,569 (GRCm39)	M231L	probably benign	Het
Apoh	A	G	11: 108,286,674 (GRCm39)	T33A	probably benign	Het
Atp13a5	T	C	16: 29,140,567 (GRCm39)	N330D	probably benign	Het
C1ql3	T	G	2: 13,015,589 (GRCm39)	M24L	probably benign	Het
Cacna1d	T	C	14: 29,845,014 (GRCm39)	N712S	probably benign	Het
Cbs	T	C	17: 31,838,113 (GRCm39)	M379V	possibly damaging	Het
Ccdc167	T	C	17: 29,924,517 (GRCm39)	D28G	probably damaging	Het
Ccp110	A	T	7: 118,323,798 (GRCm39)	Q679L	probably benign	Het
Ccz1	A	T	5: 143,935,000 (GRCm39)	L310H	probably damaging	Het
Cerkl	A	T	2: 79,259,104 (GRCm39)	D44E	probably damaging	Het
Cfap221	T	A	1: 119,922,828 (GRCm39)	E38V	possibly damaging	Het
Chia1	T	A	3: 106,039,331 (GRCm39)	*474R	probably null	Het
Clint1	C	T	11: 45,774,590 (GRCm39)	T32M	probably damaging	Het
Clk3	A	T	9: 57,668,239 (GRCm39)	F227L	probably damaging	Het
Col5a3	C	T	9: 20,705,242 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,426,873 (GRCm39)	I501T	probably benign	Het
Dag1	G	A	9: 108,086,292 (GRCm39)	A283V	possibly damaging	Het
Ddr2	A	T	1: 169,809,647 (GRCm39)	W777R	probably damaging	Het
Dido1	A	T	2: 180,316,914 (GRCm39)	V631E	possibly damaging	Het
Dpp4	G	A	2: 62,189,245 (GRCm39)	Q429*	probably null	Het
Dscaml1	A	G	9: 45,664,214 (GRCm39)	R2030G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E2f8	T	A	7: 48,517,713 (GRCm39)	M697L	probably damaging	Het
Eef2kmt	C	A	16: 5,065,299 (GRCm39)	G303W	probably damaging	Het
Eif2ak1	A	G	5: 143,814,489 (GRCm39)	Y182C	probably damaging	Het
Epha6	G	T	16: 59,780,793 (GRCm39)	A636E	probably damaging	Het
Fancd2	G	A	6: 113,513,900 (GRCm39)	V95I	probably benign	Het
Fbln5	A	T	12: 101,727,075 (GRCm39)	C292S	probably damaging	Het
Fgfr4	A	G	13: 55,306,968 (GRCm39)	Y219C	probably damaging	Het
Frem1	T	G	4: 82,912,359 (GRCm39)	K670T	probably damaging	Het
Fsip2	A	T	2: 82,809,711 (GRCm39)	H2010L	probably benign	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gbe1	A	G	16: 70,157,903 (GRCm39)	T101A	probably benign	Het
Gm5114	T	A	7: 39,058,180 (GRCm39)	I480F	probably damaging	Het
Gm7145	A	T	1: 117,913,842 (GRCm39)	R241S	probably damaging	Het
Gnal	G	A	18: 67,268,596 (GRCm39)	V161I	probably benign	Het
Gtpbp1	T	C	15: 79,575,243 (GRCm39)	C46R	probably benign	Het
Gucy2c	A	T	6: 136,679,746 (GRCm39)	L971Q	probably damaging	Het
Hsp90b1	T	C	10: 86,528,047 (GRCm39)	E740G	probably damaging	Het
Lingo2	G	A	4: 35,709,450 (GRCm39)	L177F	possibly damaging	Het
Mfsd6l	A	G	11: 68,447,874 (GRCm39)	T242A	possibly damaging	Het
Mmadhc	C	T	2: 50,181,457 (GRCm39)	R71K	probably damaging	Het
Mrm3	G	T	11: 76,140,726 (GRCm39)	V245L	probably damaging	Het
Nav3	T	A	10: 109,739,619 (GRCm39)	I117F	probably damaging	Het
Noc3l	A	T	19: 38,783,468 (GRCm39)	V636D	probably damaging	Het
Nwd1	A	T	8: 73,438,410 (GRCm39)	Q1486L	probably damaging	Het
Or10aa1	A	T	1: 173,870,419 (GRCm39)	K301M	probably damaging	Het
Or2y10	A	G	11: 49,455,329 (GRCm39)	T194A	possibly damaging	Het
Or3a10	G	T	11: 73,935,726 (GRCm39)	R125S	possibly damaging	Het
Or4c11c	T	G	2: 88,662,190 (GRCm39)	I243R	probably damaging	Het
Or6c5b	C	G	10: 129,245,852 (GRCm39)	L206V	possibly damaging	Het
Pax9	T	A	12: 56,742,647 (GRCm39)	M1K	probably null	Het
Pcdha1	T	C	18: 37,063,702 (GRCm39)	V122A	probably damaging	Het
Pgpep1l	A	T	7: 67,887,469 (GRCm39)	S44T	probably damaging	Het
Pla2g3	C	T	11: 3,443,022 (GRCm39)	L452F	possibly damaging	Het
Plbd2	G	A	5: 120,631,214 (GRCm39)	R188W	probably damaging	Het
Ppp1r42	G	A	1: 10,039,082 (GRCm39)	P346L	probably benign	Het
Prdm8	T	A	5: 98,332,375 (GRCm39)	V92D	probably damaging	Het
Ripor2	C	A	13: 24,885,427 (GRCm39)	S554*	probably null	Het
Rps19	T	C	7: 24,584,571 (GRCm39)	V4A	probably damaging	Het
Rrm2b	T	A	15: 37,944,817 (GRCm39)	I159F	probably benign	Het
Rusc1	C	A	3: 88,999,057 (GRCm39)	G242W	probably damaging	Het
Sarm1	A	G	11: 78,388,083 (GRCm39)	S68P	possibly damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Slc22a4	A	G	11: 53,877,364 (GRCm39)	F509S	possibly damaging	Het
Slc39a12	G	A	2: 14,456,811 (GRCm39)	A600T	probably damaging	Het
Spta1	A	T	1: 174,050,915 (GRCm39)	H1798L	probably damaging	Het
Sulf2	T	G	2: 165,919,536 (GRCm39)	D804A	possibly damaging	Het
Suz12	A	T	11: 79,910,529 (GRCm39)	E316D	probably benign	Het
Tbrg4	A	G	11: 6,570,065 (GRCm39)	S270P	probably benign	Het
Tecta	T	C	9: 42,248,628 (GRCm39)	T1925A	probably damaging	Het
Thrap3	A	T	4: 126,072,223 (GRCm39)	F390I	probably damaging	Het
Tpr	C	A	1: 150,269,245 (GRCm39)	A70E	unknown	Het
Trpv4	G	C	5: 114,774,520 (GRCm39)	P188R	probably benign	Het
Txlna	A	C	4: 129,525,953 (GRCm39)	L298R	probably damaging	Het
Ubr4	T	C	4: 139,140,749 (GRCm39)	S1223P	probably benign	Het
Ucp1	A	T	8: 84,021,881 (GRCm39)	T238S	probably damaging	Het
Ush2a	A	G	1: 188,147,943 (GRCm39)	S957G	probably benign	Het
Usp34	A	G	11: 23,438,868 (GRCm39)	N3496D		Het
Vmn2r50	T	C	7: 9,784,277 (GRCm39)		probably null	Het
Wdr54	A	G	6: 83,131,921 (GRCm39)	V130A	probably benign	Het
Zfp692	A	T	11: 58,202,331 (GRCm39)	E362V	probably damaging	Het
Zfp811	A	G	17: 33,016,487 (GRCm39)	Y518H	probably damaging	Het
Zfp994	A	C	17: 22,419,049 (GRCm39)	C633W	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
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
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'- TAGTGCCAACCCTTCAGTGG -3'
(R):5'- TGCACATCCTCTCTTGCTGATAAG -3'

Sequencing Primer
(F):5'- AGTGGGCAGCACTCCTTCTC -3'
(R):5'- ATCCTCTCTTGCTGATAAGTGACTAG -3'

Posted On

2019-09-13