Mutagenetix > Incidental Mutation

Incidental Mutation 'R9089:Deaf1'

690826

Institutional Source

Beutler Lab

Gene Symbol

Deaf1

Ensembl Gene

ENSMUSG00000058886

Gene Name

DEAF1, transcription factor

Synonyms

C230009B13Rik, NUDR, suppressin

MMRRC Submission

068907-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R9089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140877093-140907603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140877465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 554 (V554D)

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

probably damaging
Transcript: ENSMUST00000080553
AA Change: V554D

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

SMART Domains

Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886
AA Change: V554D

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: ENSMUST00000209600
AA Change: V119D

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

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

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,347,951 (GRCm39)	R118*	probably null	Het
Acadsb	T	C	7: 131,027,504 (GRCm39)	V68A	probably damaging	Het
Adgb	T	C	10: 10,318,432 (GRCm39)	R137G	probably benign	Het
Adgrl3	C	A	5: 81,808,291 (GRCm39)	N622K	possibly damaging	Het
Ager	C	A	17: 34,819,579 (GRCm39)	P366T	probably benign	Het
Barx2	C	A	9: 31,765,443 (GRCm39)	W184L	probably damaging	Het
Bckdha	A	C	7: 25,341,144 (GRCm39)	N72K	probably benign	Het
Blm	A	T	7: 80,162,867 (GRCm39)	D161E	probably damaging	Het
Ccdc121rt2	A	T	5: 112,598,757 (GRCm39)	R435W	probably damaging	Het
Cd96	G	T	16: 45,870,068 (GRCm39)	T467N	probably benign	Het
Cdk13	A	T	13: 17,978,444 (GRCm39)	S265T	unknown	Het
Col6a5	A	C	9: 105,766,142 (GRCm39)	I1926S	probably damaging	Het
Csgalnact2	A	T	6: 118,097,983 (GRCm39)	V361D	probably damaging	Het
Cstf1	T	A	2: 172,217,807 (GRCm39)	M140K		Het
Ddx41	A	T	13: 55,683,424 (GRCm39)	S128T	probably benign	Het
Dido1	C	T	2: 180,303,293 (GRCm39)	S1537N	probably benign	Het
Dmwd	T	C	7: 18,811,980 (GRCm39)	S145P	probably damaging	Het
Eftud2	A	G	11: 102,759,971 (GRCm39)	S125P	probably benign	Het
Gga1	A	G	15: 78,773,952 (GRCm39)	D325G	probably damaging	Het
Gm43518	T	C	5: 124,072,329 (GRCm39)		probably null	Het
Got1l1	A	T	8: 27,690,889 (GRCm39)	V53E	probably damaging	Het
Helz2	A	T	2: 180,881,433 (GRCm39)	C350S	probably damaging	Het
Ipo7	T	A	7: 109,643,666 (GRCm39)	F398I	possibly damaging	Het
Itga11	A	G	9: 62,678,662 (GRCm39)	N943S	probably damaging	Het
Itpa	T	A	2: 130,509,857 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kbtbd4	A	T	2: 90,737,909 (GRCm39)	N220Y	possibly damaging	Het
Kdm5b	T	A	1: 134,535,506 (GRCm39)	F594L	probably damaging	Het
Klhdc4	C	T	8: 122,524,684 (GRCm39)	V446I	probably benign	Het
Klk1b1	A	G	7: 43,620,668 (GRCm39)	I253V	possibly damaging	Het
Kynu	T	A	2: 43,489,620 (GRCm39)	M135K	probably damaging	Het
Lgi1	T	C	19: 38,294,095 (GRCm39)	I289T	possibly damaging	Het
Lhx2	A	G	2: 38,250,045 (GRCm39)	N288S	probably damaging	Het
Lrp6	G	C	6: 134,488,169 (GRCm39)	A309G	probably damaging	Het
Map2	T	A	1: 66,452,098 (GRCm39)	N329K	probably benign	Het
Med15	G	A	16: 17,473,421 (GRCm39)	P476L	unknown	Het
Muc16	A	T	9: 18,555,846 (GRCm39)	N3482K	unknown	Het
Nemf	A	C	12: 69,400,628 (GRCm39)	V149G	probably damaging	Het
Notch3	T	C	17: 32,370,521 (GRCm39)	S706G	probably benign	Het
Nphp4	T	C	4: 152,645,673 (GRCm39)	V1227A	possibly damaging	Het
Or1e31	A	G	11: 73,690,052 (GRCm39)	F177S	probably damaging	Het
Or2a52	A	T	6: 43,144,917 (GRCm39)	R308S	probably benign	Het
Or6c70	A	G	10: 129,710,488 (GRCm39)	L46P	probably damaging	Het
Parp2	A	G	14: 51,052,327 (GRCm39)	T102A	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,264 (GRCm39)	V555A	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ralgapa1	A	C	12: 55,723,351 (GRCm39)	L1725R	probably damaging	Het
Reln	G	T	5: 22,130,198 (GRCm39)	D2704E	probably benign	Het
Sart3	C	A	5: 113,891,756 (GRCm39)	E405D	possibly damaging	Het
Scin	A	T	12: 40,131,703 (GRCm39)	L277*	probably null	Het
Sec62	T	A	3: 30,868,383 (GRCm39)	V204E	probably benign	Het
Serpina3a	T	C	12: 104,085,956 (GRCm39)	I137T	possibly damaging	Het
Sh3rf1	T	C	8: 61,825,613 (GRCm39)	M536T	probably benign	Het
Slc45a4	T	C	15: 73,457,953 (GRCm39)	H532R	probably damaging	Het
Svs5	A	G	2: 164,079,341 (GRCm39)	F189L	probably benign	Het
Synm	T	C	7: 67,408,766 (GRCm39)	D204G	probably damaging	Het
Tmtc1	A	T	6: 148,147,215 (GRCm39)	H827Q	possibly damaging	Het
Tnfrsf25	T	A	4: 152,201,929 (GRCm39)	C135*	probably null	Het
Unc13b	T	G	4: 43,095,847 (GRCm39)	I85S	probably damaging	Het
Ush2a	T	A	1: 188,487,374 (GRCm39)	Y3047*	probably null	Het
Vmn1r75	T	C	7: 11,614,453 (GRCm39)	S62P	probably damaging	Het
Vps50	T	C	6: 3,536,884 (GRCm39)	V285A	probably benign	Het
Vwa5b1	T	A	4: 138,296,742 (GRCm39)	D1095V	probably benign	Het
Zdhhc21	T	A	4: 82,725,292 (GRCm39)	D208V	probably damaging	Het
Zfp422	A	C	6: 116,604,086 (GRCm39)		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
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
Z1176:Deaf1	UTSW	7	140,881,387 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGCTTGTTTCCAAGGGCAC -3'
(R):5'- ACGTTCCCTGACTAACAGC -3'

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

Posted On

2021-12-30