Mutagenetix > Incidental Mutation

Incidental Mutation 'R0007:Diaph3'

7985

Institutional Source

Beutler Lab

Gene Symbol

Diaph3

Ensembl Gene

ENSMUSG00000022021

Gene Name

diaphanous related formin 3

Synonyms

mDia2, Drf3, p134MDia2, 4930417P13Rik, Diap3

MMRRC Submission

038302-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

86892803-87378671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87104056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 776 (R776L)

Ref Sequence

ENSEMBL: ENSMUSP00000129420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022599] [ENSMUST00000168889]

AlphaFold

Q9Z207

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022599
AA Change: R776L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: R776L

Domain	Start	End	E-Value	Type
low complexity region	76	86	N/A	INTRINSIC
Drf_GBD	93	276	7.94e-61	SMART
Drf_FH3	281	467	5.74e-67	SMART
coiled coil region	485	533	N/A	INTRINSIC
SCOP:d1jvr__	545	589	1e-3	SMART
FH2	615	1056	3.88e-180	SMART
Blast:FH2	1087	1160	2e-27	BLAST
low complexity region	1163	1171	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168889
AA Change: R776L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: R776L

Domain	Start	End	E-Value	Type
low complexity region	76	86	N/A	INTRINSIC
Drf_GBD	93	276	7.94e-61	SMART
Drf_FH3	281	467	5.74e-67	SMART
coiled coil region	485	533	N/A	INTRINSIC
SCOP:d1jvr__	545	589	1e-3	SMART
FH2	615	1056	3.2e-181	SMART
Blast:FH2	1087	1160	2e-27	BLAST
low complexity region	1163	1171	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227666

Meta Mutation Damage Score

0.2553

Coding Region Coverage

1x: 75.9%
3x: 62.7%
10x: 33.8%
20x: 16.7%

Validation Efficiency

95% (54/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for disruption of this gene display embryonic mortality and abnormal cytokinesis of RBC. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,147,466 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,957,088 (GRCm39)	L205*	probably null	Het
Cntnap2	A	C	6: 45,969,007 (GRCm39)	N250H	possibly damaging	Het
Col7a1	T	C	9: 108,790,471 (GRCm39)	V973A	unknown	Het
Denr	T	A	5: 124,062,877 (GRCm39)	Y127N	probably damaging	Het
F2	T	C	2: 91,460,952 (GRCm39)	E260G	probably benign	Het
Il1rl1	C	T	1: 40,485,331 (GRCm39)	T261I	possibly damaging	Het
Lama3	T	A	18: 12,630,938 (GRCm39)		probably benign	Het
Map2k5	A	T	9: 63,201,006 (GRCm39)	I209N	probably damaging	Het
Myo1b	T	A	1: 51,815,413 (GRCm39)	R650S	probably damaging	Het
Nek10	T	A	14: 14,840,574 (GRCm38)	H153Q	probably benign	Het
Nlrp9a	T	C	7: 26,250,515 (GRCm39)		probably benign	Het
Pcnx4	T	A	12: 72,602,353 (GRCm39)	F281I	possibly damaging	Het
Pcsk5	C	A	19: 17,632,225 (GRCm39)	G314C	probably damaging	Het
Pkhd1l1	T	C	15: 44,437,794 (GRCm39)		probably benign	Het
Polr2b	T	C	5: 77,488,284 (GRCm39)	V828A	probably benign	Het
Slc44a4	G	A	17: 35,140,230 (GRCm39)	A60T	probably damaging	Het
Sparcl1	T	A	5: 104,234,946 (GRCm39)	Q523L	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trhr	T	C	15: 44,092,547 (GRCm39)		probably benign	Het
Trim16	A	G	11: 62,719,944 (GRCm39)	M84V	probably benign	Het
Trpm3	G	A	19: 22,964,893 (GRCm39)	A1453T	probably benign	Het
Zfp990	C	A	4: 145,264,008 (GRCm39)	H335Q	probably benign	Het

Other mutations in Diaph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Diaph3	APN	14	87,240,307 (GRCm39)	missense	probably benign
IGL00809:Diaph3	APN	14	87,237,463 (GRCm39)	missense	probably damaging	0.98
IGL01419:Diaph3	APN	14	87,202,989 (GRCm39)	nonsense	probably null
IGL01577:Diaph3	APN	14	87,143,467 (GRCm39)	missense	probably damaging	0.99
IGL01718:Diaph3	APN	14	86,893,774 (GRCm39)	missense	unknown
IGL01736:Diaph3	APN	14	87,156,282 (GRCm39)	missense	probably benign	0.01
IGL01893:Diaph3	APN	14	87,156,288 (GRCm39)	missense	possibly damaging	0.71
IGL02316:Diaph3	APN	14	87,223,551 (GRCm39)	missense	possibly damaging	0.88
IGL02527:Diaph3	APN	14	87,047,795 (GRCm39)	missense	possibly damaging	0.47
IGL02586:Diaph3	APN	14	87,223,512 (GRCm39)	nonsense	probably null
IGL02749:Diaph3	APN	14	87,156,261 (GRCm39)	missense	probably damaging	0.99
IGL02892:Diaph3	APN	14	87,104,066 (GRCm39)	nonsense	probably null
IGL03069:Diaph3	APN	14	87,009,555 (GRCm39)	missense	probably damaging	1.00
IGL03191:Diaph3	APN	14	87,310,738 (GRCm39)	missense	possibly damaging	0.75
BB008:Diaph3	UTSW	14	87,352,456 (GRCm39)	missense	possibly damaging	0.70
BB018:Diaph3	UTSW	14	87,352,456 (GRCm39)	missense	possibly damaging	0.70
R0007:Diaph3	UTSW	14	87,104,056 (GRCm39)	missense	possibly damaging	0.86
R0011:Diaph3	UTSW	14	87,103,844 (GRCm39)	missense	probably damaging	1.00
R0051:Diaph3	UTSW	14	87,274,890 (GRCm39)	critical splice donor site	probably null
R0051:Diaph3	UTSW	14	87,274,890 (GRCm39)	critical splice donor site	probably null
R0285:Diaph3	UTSW	14	87,352,460 (GRCm39)	missense	possibly damaging	0.86
R0359:Diaph3	UTSW	14	87,206,938 (GRCm39)	missense	probably benign	0.26
R0505:Diaph3	UTSW	14	87,328,400 (GRCm39)	splice site	probably benign
R0551:Diaph3	UTSW	14	87,147,536 (GRCm39)	missense	probably benign	0.45
R1295:Diaph3	UTSW	14	87,244,835 (GRCm39)	missense	probably damaging	1.00
R1539:Diaph3	UTSW	14	86,893,916 (GRCm39)	missense	probably damaging	1.00
R1602:Diaph3	UTSW	14	87,328,594 (GRCm39)	splice site	probably benign
R1725:Diaph3	UTSW	14	87,203,759 (GRCm39)	critical splice donor site	probably null
R1745:Diaph3	UTSW	14	87,203,996 (GRCm39)	missense	probably damaging	0.96
R1747:Diaph3	UTSW	14	87,310,773 (GRCm39)	missense	probably damaging	0.98
R1772:Diaph3	UTSW	14	87,202,985 (GRCm39)	missense	probably damaging	1.00
R1914:Diaph3	UTSW	14	86,893,921 (GRCm39)	missense	probably damaging	0.98
R1942:Diaph3	UTSW	14	87,378,556 (GRCm39)	utr 5 prime	probably benign
R1999:Diaph3	UTSW	14	87,222,302 (GRCm39)	missense	possibly damaging	0.53
R2291:Diaph3	UTSW	14	87,203,882 (GRCm39)	missense	probably damaging	1.00
R2999:Diaph3	UTSW	14	87,009,530 (GRCm39)	missense	probably damaging	0.99
R3158:Diaph3	UTSW	14	86,893,892 (GRCm39)	missense	possibly damaging	0.84
R3612:Diaph3	UTSW	14	87,274,893 (GRCm39)	missense	probably null	0.89
R4170:Diaph3	UTSW	14	87,223,143 (GRCm39)	missense	probably damaging	1.00
R4594:Diaph3	UTSW	14	87,223,473 (GRCm39)	missense	probably damaging	0.99
R4912:Diaph3	UTSW	14	87,244,635 (GRCm39)	missense	probably damaging	1.00
R4930:Diaph3	UTSW	14	87,378,602 (GRCm39)	start gained	probably benign
R5063:Diaph3	UTSW	14	87,222,306 (GRCm39)	missense	probably damaging	1.00
R5093:Diaph3	UTSW	14	87,222,236 (GRCm39)	missense	probably damaging	1.00
R5267:Diaph3	UTSW	14	86,893,989 (GRCm39)	missense	probably benign	0.03
R5289:Diaph3	UTSW	14	87,219,114 (GRCm39)	missense	probably damaging	1.00
R5549:Diaph3	UTSW	14	87,216,106 (GRCm39)	missense	probably benign	0.14
R5936:Diaph3	UTSW	14	87,009,552 (GRCm39)	missense	possibly damaging	0.53
R5966:Diaph3	UTSW	14	87,222,261 (GRCm39)	missense	probably damaging	1.00
R6236:Diaph3	UTSW	14	87,275,004 (GRCm39)	nonsense	probably null
R6323:Diaph3	UTSW	14	87,203,889 (GRCm39)	missense	probably benign	0.03
R6331:Diaph3	UTSW	14	87,103,976 (GRCm39)	missense	probably damaging	1.00
R6362:Diaph3	UTSW	14	87,009,566 (GRCm39)	missense	probably damaging	1.00
R6398:Diaph3	UTSW	14	87,103,922 (GRCm39)	missense	probably damaging	1.00
R6408:Diaph3	UTSW	14	87,066,430 (GRCm39)	missense	possibly damaging	0.68
R6469:Diaph3	UTSW	14	86,893,974 (GRCm39)	missense	possibly damaging	0.71
R6519:Diaph3	UTSW	14	87,203,771 (GRCm39)	missense	probably damaging	1.00
R7261:Diaph3	UTSW	14	87,202,893 (GRCm39)	missense	probably benign	0.04
R7283:Diaph3	UTSW	14	87,104,020 (GRCm39)	missense	probably damaging	1.00
R7782:Diaph3	UTSW	14	87,274,940 (GRCm39)	missense	probably benign	0.00
R7811:Diaph3	UTSW	14	87,219,060 (GRCm39)	missense	probably damaging	1.00
R7931:Diaph3	UTSW	14	87,352,456 (GRCm39)	missense	possibly damaging	0.70
R8012:Diaph3	UTSW	14	87,274,958 (GRCm39)	missense	probably benign
R8024:Diaph3	UTSW	14	86,893,835 (GRCm39)	missense	probably damaging	1.00
R8065:Diaph3	UTSW	14	87,274,931 (GRCm39)	missense	probably damaging	1.00
R8271:Diaph3	UTSW	14	87,103,949 (GRCm39)	missense	probably damaging	1.00
R8345:Diaph3	UTSW	14	87,066,529 (GRCm39)	nonsense	probably null
R8494:Diaph3	UTSW	14	87,274,958 (GRCm39)	missense	probably benign
R8670:Diaph3	UTSW	14	86,893,835 (GRCm39)	missense	probably benign	0.05
R9225:Diaph3	UTSW	14	87,244,760 (GRCm39)	critical splice donor site	probably null
R9304:Diaph3	UTSW	14	87,328,448 (GRCm39)	missense	possibly damaging	0.94
R9331:Diaph3	UTSW	14	87,378,461 (GRCm39)	nonsense	probably null
R9532:Diaph3	UTSW	14	86,893,916 (GRCm39)	missense	probably damaging	1.00
Z1176:Diaph3	UTSW	14	86,893,868 (GRCm39)	missense	probably benign	0.09
Z1177:Diaph3	UTSW	14	87,240,250 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-11-20