Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Diaph3'

565824

Institutional Source

Beutler Lab

Gene Symbol

Diaph3

Ensembl Gene

ENSMUSG00000022021

Gene Name

diaphanous related formin 3

Synonyms

4930417P13Rik, Diap3, mDia2, p134MDia2, Drf3

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86655367-87141235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86866584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 788 (F788S)

Ref Sequence

ENSEMBL: ENSMUSP00000129420 (fasta)

Gene Model

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

AlphaFold

Q9Z207

Predicted Effect

probably damaging
Transcript: ENSMUST00000022599
AA Change: F788S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: F788S

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: F788S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: F788S

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

Meta Mutation Damage Score

0.9392

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	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
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
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
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'- AGTGTTCAGGCAAATATGTGTG -3'
(R):5'- AGGGACATATTGCTTCTTCCG -3'

Sequencing Primer
(F):5'- CTCACTTTACAGAGAGAGCTAAGGTC -3'
(R):5'- AGGGACATATTGCTTCTTCCGTACTG -3'

Posted On

2019-06-26