Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02586:Diaph3'

299560

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Diaph3

Ensembl Gene

ENSMUSG00000022021

Gene Name

diaphanous related formin 3

Synonyms

mDia2, Drf3, p134MDia2, 4930417P13Rik, Diap3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02586

Quality Score

Status

Chromosome

Chromosomal Location

86892803-87378671 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 87223512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 323 (L323*)

Ref Sequence

ENSEMBL: ENSMUSP00000153711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022599] [ENSMUST00000168889] [ENSMUST00000228000]

AlphaFold

Q9Z207

Predicted Effect

probably null
Transcript: ENSMUST00000022599
AA Change: L334*

SMART Domains

Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: L334*

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

probably null
Transcript: ENSMUST00000168889
AA Change: L334*

SMART Domains

Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: L334*

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

Predicted Effect

probably null
Transcript: ENSMUST00000228000
AA Change: L323*

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,983 (GRCm39)	I1949V	possibly damaging	Het
Anapc2	T	A	2: 25,175,108 (GRCm39)	M742K	probably benign	Het
Arhgef12	T	A	9: 42,917,200 (GRCm39)	K380*	probably null	Het
Armc1	G	T	3: 19,188,192 (GRCm39)		probably benign	Het
Bltp1	G	A	3: 37,098,757 (GRCm39)	W4626*	probably null	Het
Fbxo11	C	T	17: 88,318,711 (GRCm39)		probably benign	Het
Flywch1	C	T	17: 23,974,676 (GRCm39)	A655T	probably benign	Het
Frmpd1	A	G	4: 45,285,160 (GRCm39)	D1327G	probably damaging	Het
Ggact	G	A	14: 123,128,942 (GRCm39)	T91I	possibly damaging	Het
Gm10250	T	A	15: 5,150,412 (GRCm39)		probably benign	Het
Gsdmc4	T	C	15: 63,765,641 (GRCm39)	S303G	probably damaging	Het
Helt	T	C	8: 46,746,276 (GRCm39)	E15G	probably damaging	Het
Kcnf1	T	A	12: 17,226,144 (GRCm39)	S26C	probably benign	Het
Lilra6	T	C	7: 3,911,819 (GRCm39)	T280A	probably benign	Het
Lipo3	A	T	19: 33,559,539 (GRCm39)	D110E	possibly damaging	Het
Mepe	C	A	5: 104,485,316 (GRCm39)	T152N	probably benign	Het
Nr2f1	C	A	13: 78,343,275 (GRCm39)		probably benign	Het
Or5ak24	T	C	2: 85,260,810 (GRCm39)	D121G	possibly damaging	Het
Or6c214	A	G	10: 129,590,524 (GRCm39)	I265T	possibly damaging	Het
Peg3	T	C	7: 6,713,068 (GRCm39)	D718G	probably benign	Het
Phf2	A	T	13: 48,967,334 (GRCm39)		probably benign	Het
Pigc	A	T	1: 161,798,503 (GRCm39)	I162F	probably benign	Het
Raf1	A	G	6: 115,597,267 (GRCm39)	L11P	probably damaging	Het
Rlf	T	C	4: 121,007,261 (GRCm39)	Y573C	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rnf149	T	G	1: 39,604,296 (GRCm39)	Q189P	probably benign	Het
Slc11a1	T	C	1: 74,424,291 (GRCm39)		probably benign	Het
Slc22a12	C	T	19: 6,590,487 (GRCm39)	M234I	probably benign	Het
Slc28a1	A	T	7: 80,814,167 (GRCm39)	I455F	probably benign	Het
Slc35f5	T	G	1: 125,512,273 (GRCm39)	L358V	probably damaging	Het
Slc47a1	A	T	11: 61,235,147 (GRCm39)	V562D	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ushbp1	T	C	8: 71,841,394 (GRCm39)		probably benign	Het
Vmn1r88	T	A	7: 12,911,735 (GRCm39)	Y30*	probably null	Het
Vmn2r27	A	T	6: 124,201,434 (GRCm39)	Y174*	probably null	Het
Wwox	T	C	8: 115,438,947 (GRCm39)	Y338H	possibly damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zup1	A	T	10: 33,811,261 (GRCm39)		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
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
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

2015-04-16