Mutagenetix > Incidental Mutations

Incidental Mutation 'R4594:Diaph3'

344287

Institutional Source

Beutler Lab

Gene Symbol

Diaph3

Ensembl Gene

ENSMUSG00000022021

Gene Name

diaphanous related formin 3

Synonyms

4930417P13Rik, Diap3, mDia2, p134MDia2, Drf3

MMRRC Submission

041810-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86655367-87141235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86986037 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 347 (C347Y)

Ref Sequence

ENSEMBL: ENSMUSP00000129420 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022599
AA Change: C347Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: C347Y

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: C347Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: C347Y

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

possibly damaging
Transcript: ENSMUST00000228000
AA Change: C336Y

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.4260

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in Diaph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Diaph3	APN	14	87002871	missense	probably benign
IGL00809:Diaph3	APN	14	87000027	missense	probably damaging	0.98
IGL01419:Diaph3	APN	14	86965553	nonsense	probably null
IGL01577:Diaph3	APN	14	86906031	missense	probably damaging	0.99
IGL01718:Diaph3	APN	14	86656338	missense	unknown
IGL01736:Diaph3	APN	14	86918846	missense	probably benign	0.01
IGL01893:Diaph3	APN	14	86918852	missense	possibly damaging	0.71
IGL02316:Diaph3	APN	14	86986115	missense	possibly damaging	0.88
IGL02527:Diaph3	APN	14	86810359	missense	possibly damaging	0.47
IGL02586:Diaph3	APN	14	86986076	nonsense	probably null
IGL02749:Diaph3	APN	14	86918825	missense	probably damaging	0.99
IGL02892:Diaph3	APN	14	86866630	nonsense	probably null
IGL03069:Diaph3	APN	14	86772119	missense	probably damaging	1.00
IGL03191:Diaph3	APN	14	87073302	missense	possibly damaging	0.75
R0007:Diaph3	UTSW	14	86866620	missense	possibly damaging	0.86
R0007:Diaph3	UTSW	14	86866620	missense	possibly damaging	0.86
R0011:Diaph3	UTSW	14	86866408	missense	probably damaging	1.00
R0051:Diaph3	UTSW	14	87037454	critical splice donor site	probably null
R0051:Diaph3	UTSW	14	87037454	critical splice donor site	probably null
R0285:Diaph3	UTSW	14	87115024	missense	possibly damaging	0.86
R0359:Diaph3	UTSW	14	86969502	missense	probably benign	0.26
R0505:Diaph3	UTSW	14	87090964	splice site	probably benign
R0551:Diaph3	UTSW	14	86910100	missense	probably benign	0.45
R1295:Diaph3	UTSW	14	87007399	missense	probably damaging	1.00
R1539:Diaph3	UTSW	14	86656480	missense	probably damaging	1.00
R1602:Diaph3	UTSW	14	87091158	splice site	probably benign
R1725:Diaph3	UTSW	14	86966323	critical splice donor site	probably null
R1745:Diaph3	UTSW	14	86966560	missense	probably damaging	0.96
R1747:Diaph3	UTSW	14	87073337	missense	probably damaging	0.98
R1772:Diaph3	UTSW	14	86965549	missense	probably damaging	1.00
R1914:Diaph3	UTSW	14	86656485	missense	probably damaging	0.98
R1942:Diaph3	UTSW	14	87141120	utr 5 prime	probably benign
R1999:Diaph3	UTSW	14	86984866	missense	possibly damaging	0.53
R2291:Diaph3	UTSW	14	86966446	missense	probably damaging	1.00
R2999:Diaph3	UTSW	14	86772094	missense	probably damaging	0.99
R3158:Diaph3	UTSW	14	86656456	missense	possibly damaging	0.84
R3612:Diaph3	UTSW	14	87037457	missense	probably null	0.89
R4170:Diaph3	UTSW	14	86985707	missense	probably damaging	1.00
R4912:Diaph3	UTSW	14	87007199	missense	probably damaging	1.00
R4930:Diaph3	UTSW	14	87141166	start gained	probably benign
R5063:Diaph3	UTSW	14	86984870	missense	probably damaging	1.00
R5093:Diaph3	UTSW	14	86984800	missense	probably damaging	1.00
R5267:Diaph3	UTSW	14	86656553	missense	probably benign	0.03
R5289:Diaph3	UTSW	14	86981678	missense	probably damaging	1.00
R5549:Diaph3	UTSW	14	86978670	missense	probably benign	0.14
R5936:Diaph3	UTSW	14	86772116	missense	possibly damaging	0.53
R5966:Diaph3	UTSW	14	86984825	missense	probably damaging	1.00
R6236:Diaph3	UTSW	14	87037568	nonsense	probably null
R6323:Diaph3	UTSW	14	86966453	missense	probably benign	0.03
R6331:Diaph3	UTSW	14	86866540	missense	probably damaging	1.00
R6362:Diaph3	UTSW	14	86772130	missense	probably damaging	1.00
R6398:Diaph3	UTSW	14	86866486	missense	probably damaging	1.00
R6408:Diaph3	UTSW	14	86828994	missense	possibly damaging	0.68
R6469:Diaph3	UTSW	14	86656538	missense	possibly damaging	0.71
R6519:Diaph3	UTSW	14	86966335	missense	probably damaging	1.00
R7261:Diaph3	UTSW	14	86965457	missense	probably benign	0.04
R7283:Diaph3	UTSW	14	86866584	missense	probably damaging	1.00
R7782:Diaph3	UTSW	14	87037504	missense	probably benign	0.00
R7811:Diaph3	UTSW	14	86981624	missense	probably damaging	1.00
R8012:Diaph3	UTSW	14	87037522	missense	probably benign
R8024:Diaph3	UTSW	14	86656399	missense	probably damaging	1.00
R8065:Diaph3	UTSW	14	87037495	missense	probably damaging	1.00
Z1176:Diaph3	UTSW	14	86656432	missense	probably benign	0.09
Z1177:Diaph3	UTSW	14	87002814	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACTCAACCTGACTTGCAG -3'
(R):5'- AGTCATTGGATTGAAGCTTGC -3'

Sequencing Primer
(F):5'- GACTTGCAGAATTCAAACACTTAAAG -3'
(R):5'- CATTGGATTGAAGCTTGCTTTCC -3'

Posted On

2015-09-25