Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Diaph3'

45193

Institutional Source

Beutler Lab

Gene Symbol

Diaph3

Ensembl Gene

ENSMUSG00000022021

Gene Name

diaphanous related formin 3

Synonyms

4930417P13Rik, Diap3, mDia2, p134MDia2, Drf3

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86655367-87141235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86910100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 711 (V711L)

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: V711L

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: V711L

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 benign
Transcript: ENSMUST00000168889
AA Change: V711L

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: V711L

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

0.1102

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	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
BB008:Diaph3	UTSW	14	87115020	missense	possibly damaging	0.70
BB018:Diaph3	UTSW	14	87115020	missense	possibly damaging	0.70
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
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
R4594:Diaph3	UTSW	14	86986037	missense	probably damaging	0.99
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
R7931:Diaph3	UTSW	14	87115020	missense	possibly damaging	0.70
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
R8271:Diaph3	UTSW	14	86866513	missense	probably damaging	1.00
R8345:Diaph3	UTSW	14	86829093	nonsense	probably null
R8494:Diaph3	UTSW	14	87037522	missense	probably benign
R8670:Diaph3	UTSW	14	86656399	missense	probably benign	0.05
R9225:Diaph3	UTSW	14	87007324	critical splice donor site	probably null
R9304:Diaph3	UTSW	14	87091012	missense	possibly damaging	0.94
R9331:Diaph3	UTSW	14	87141025	nonsense	probably null
R9532:Diaph3	UTSW	14	86656480	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'- TCCTGGCAATGCAGAAGTTATGCTC -3'
(R):5'- CCAGCTCTAACCTGGAAGTGTGTG -3'

Sequencing Primer
(F):5'- TGCAGCAATGATTTTCCAGTTC -3'
(R):5'- gagagagagagagagagagagagag -3'

Posted On

2013-06-11