Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01577:Diaph3'

91280

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 #

IGL01577

Quality Score

Status

Chromosome

Chromosomal Location

86892803-87378671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87143467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 737 (I737R)

Ref Sequence

ENSEMBL: ENSMUSP00000129420 (fasta)

Gene Model

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

AlphaFold

Q9Z207

Predicted Effect

probably benign
Transcript: ENSMUST00000022599
AA Change: I737R

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: I737R

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 damaging
Transcript: ENSMUST00000168889
AA Change: I737R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: I737R

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,709,232 (GRCm39)	T279A	probably benign	Het
Adamts9	T	G	6: 92,835,128 (GRCm39)		probably benign	Het
Apba3	G	A	10: 81,108,053 (GRCm39)	G403D	probably damaging	Het
Atp13a4	C	T	16: 29,260,102 (GRCm39)	V235I	possibly damaging	Het
Brca2	T	A	5: 150,465,085 (GRCm39)	C1616*	probably null	Het
Ccdc7a	T	A	8: 129,715,244 (GRCm39)	E280V	probably damaging	Het
Cdc42bpb	A	G	12: 111,268,477 (GRCm39)	I1241T	possibly damaging	Het
Cplx4	G	T	18: 66,103,015 (GRCm39)	A35E	probably damaging	Het
Cyp2j8	T	G	4: 96,367,308 (GRCm39)	D270A	probably damaging	Het
Cyp7a1	T	C	4: 6,273,618 (GRCm39)	D96G	probably damaging	Het
Ddx11	G	A	17: 66,446,398 (GRCm39)	R429H	possibly damaging	Het
Depdc5	C	A	5: 33,113,241 (GRCm39)	T419N	possibly damaging	Het
Elf2	C	T	3: 51,163,773 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,777,289 (GRCm39)	I673L	possibly damaging	Het
Ephx1	A	G	1: 180,829,545 (GRCm39)	M1T	probably null	Het
Fndc3a	A	T	14: 72,827,298 (GRCm39)	M84K	probably damaging	Het
Gad2	T	C	2: 22,571,292 (GRCm39)		probably benign	Het
Gba2	G	A	4: 43,573,753 (GRCm39)	Q180*	probably null	Het
Gga2	A	G	7: 121,589,006 (GRCm39)	Y574H	probably damaging	Het
Gm7168	A	T	17: 14,169,649 (GRCm39)	R339W	probably damaging	Het
Hdac10	T	C	15: 89,010,416 (GRCm39)	E302G	possibly damaging	Het
Ighv1-72	A	G	12: 115,721,893 (GRCm39)	V21A	possibly damaging	Het
Kif15	A	G	9: 122,825,399 (GRCm39)	E774G	probably benign	Het
Lig3	A	G	11: 82,674,303 (GRCm39)	N43S	probably benign	Het
Nmnat1	T	A	4: 149,554,135 (GRCm39)	D135V	possibly damaging	Het
Or1s2	A	G	19: 13,758,162 (GRCm39)	Y62C	probably damaging	Het
Or52n2	A	G	7: 104,542,730 (GRCm39)	F35S	probably benign	Het
Pak6	A	C	2: 118,524,129 (GRCm39)	K428T	probably benign	Het
Pou2f3	G	A	9: 43,058,178 (GRCm39)	Q56*	probably null	Het
Prep	T	C	10: 44,948,144 (GRCm39)		probably benign	Het
Psd4	C	T	2: 24,293,234 (GRCm39)	P700S	probably damaging	Het
Rad18	A	T	6: 112,642,302 (GRCm39)		probably benign	Het
Rbbp5	A	G	1: 132,420,393 (GRCm39)	K209E	possibly damaging	Het
Smurf1	G	A	5: 144,829,998 (GRCm39)	T335I	probably damaging	Het
Tbcd	G	A	11: 121,387,838 (GRCm39)	R72Q	probably damaging	Het
Tsga10	T	C	1: 37,874,538 (GRCm39)	T116A	possibly damaging	Het
Unc80	A	G	1: 66,569,127 (GRCm39)		probably null	Het
Vmn1r87	C	A	7: 12,865,775 (GRCm39)	V171F	probably benign	Het
Ythdc2	A	T	18: 44,991,349 (GRCm39)	M786L	probably benign	Het
Zmym6	C	A	4: 126,999,223 (GRCm39)	T469K	probably damaging	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
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
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

2013-12-09