Mutagenetix > Incidental Mutation

Incidental Mutation 'R9304:Diaph3'

705135

Institutional Source

Beutler Lab

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 #

R9304 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86892803-87378671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87328448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 98 (E98G)

Ref Sequence

ENSEMBL: ENSMUSP00000129420 (fasta)

Gene Model

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

AlphaFold

Q9Z207

Predicted Effect

probably damaging
Transcript: ENSMUST00000022599
AA Change: E98G

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

SMART Domains

Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: E98G

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

possibly damaging
Transcript: ENSMUST00000168889
AA Change: E98G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: E98G

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

probably damaging
Transcript: ENSMUST00000228000
AA Change: E87G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	G	3: 36,536,072 (GRCm39)	K113E	unknown	Het
4930486L24Rik	T	C	13: 61,001,352 (GRCm39)	Y125C	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam28	A	T	14: 68,874,946 (GRCm39)	Y244N	probably damaging	Het
Ap3b2	T	C	7: 81,113,019 (GRCm39)	D944G	unknown	Het
Asb2	G	A	12: 103,302,225 (GRCm39)	P108S	probably damaging	Het
Cachd1	A	G	4: 100,824,179 (GRCm39)	Y540C	possibly damaging	Het
Ccdc40	A	G	11: 119,122,597 (GRCm39)	Q63R	probably benign	Het
Cdhr5	G	A	7: 140,851,474 (GRCm39)	P610L	probably benign	Het
Cep350	T	C	1: 155,829,464 (GRCm39)	K87E	probably damaging	Het
Csmd3	T	C	15: 47,569,805 (GRCm39)	D1206G		Het
Dmbt1	A	T	7: 130,700,855 (GRCm39)	E1185V	unknown	Het
Enpp2	C	T	15: 54,815,969 (GRCm39)	R65H	probably damaging	Het
Gapdh	A	G	6: 125,139,819 (GRCm39)	V195A	probably benign	Het
Gm14412	T	C	2: 177,007,547 (GRCm39)	D116G	probably benign	Het
Gucy2e	A	T	11: 69,126,560 (GRCm39)	D273E	probably benign	Het
Gulp1	A	T	1: 44,793,593 (GRCm39)	K85*	probably null	Het
Htra3	A	G	5: 35,836,515 (GRCm39)	V59A	probably benign	Het
Iars2	A	T	1: 185,055,400 (GRCm39)	Y244*	probably null	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Il18r1	A	G	1: 40,510,893 (GRCm39)		probably benign	Het
Mical2	A	G	7: 111,980,974 (GRCm39)	D316G	probably damaging	Het
Myb	A	G	10: 21,028,516 (GRCm39)	S116P	probably damaging	Het
Or2ag1b	A	T	7: 106,288,880 (GRCm39)	D19E	probably benign	Het
Prob1	C	A	18: 35,787,708 (GRCm39)	G182V	probably damaging	Het
Psmb9	A	G	17: 34,406,222 (GRCm39)		probably null	Het
Pudp	T	A	18: 50,701,670 (GRCm39)	D21V	probably damaging	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Rpf2	A	G	10: 40,119,850 (GRCm39)		probably null	Het
Sbk2	A	G	7: 4,960,507 (GRCm39)	I221T	probably damaging	Het
Slc10a1	G	A	12: 81,004,957 (GRCm39)	T195I	probably benign	Het
Spata31h1	G	T	10: 82,131,930 (GRCm39)	P360Q	probably benign	Het
Speer1k	G	A	5: 10,998,949 (GRCm39)	R29Q		Het
Stom	A	G	2: 35,211,697 (GRCm39)	V108A	possibly damaging	Het
Tmem70	C	T	1: 16,737,989 (GRCm39)	T100M	possibly damaging	Het
Trdn	G	T	10: 33,181,087 (GRCm39)		probably null	Het
Trmt61a	T	A	12: 111,647,437 (GRCm39)	V178D	possibly damaging	Het
Trpv4	C	A	5: 114,782,702 (GRCm39)	E87*	probably null	Het
Ttc6	T	C	12: 57,776,117 (GRCm39)	F1687S	probably damaging	Het
Urb2	T	C	8: 124,757,247 (GRCm39)	F985L	probably benign	Het
Vdac3	T	A	8: 23,070,568 (GRCm39)	K114N	probably damaging	Het
Zfp260	T	C	7: 29,804,279 (GRCm39)	S60P	possibly damaging	Het
Zkscan4	T	A	13: 21,665,570 (GRCm39)	S182T	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGACCACAGTGGGACTACC -3'
(R):5'- ACAGTGTGATTGATTGGCCC -3'

Sequencing Primer
(F):5'- CAGTGGGACTACCTGCAAAGC -3'
(R):5'- GCAACTAGATAACAGTTGCTGC -3'

Posted On

2022-03-25