Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01736:Diaph3'

105713

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 #

IGL01736

Quality Score

Status

Chromosome

Chromosomal Location

86892803-87378671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87156282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 677 (D677G)

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: D677G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: D677G

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

noncoding transcript
Transcript: ENSMUST00000104755

Predicted Effect

probably benign
Transcript: ENSMUST00000168889
AA Change: D677G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: D677G

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,326,503 (GRCm39)	T290A	possibly damaging	Het
Apip	G	A	2: 102,917,486 (GRCm39)	V62M	probably damaging	Het
Appbp2	T	C	11: 85,105,143 (GRCm39)	K141R	possibly damaging	Het
Arhgef18	T	A	8: 3,501,624 (GRCm39)		probably benign	Het
B3galt2	A	G	1: 143,522,583 (GRCm39)	T240A	probably benign	Het
Bivm	A	T	1: 44,180,973 (GRCm39)	N385I	probably damaging	Het
Brd4	A	T	17: 32,417,649 (GRCm39)		probably benign	Het
Cage1	T	C	13: 38,206,789 (GRCm39)	D352G	possibly damaging	Het
Ceacam10	A	G	7: 24,480,535 (GRCm39)	Y102C	probably damaging	Het
Dis3l	T	C	9: 64,226,536 (GRCm39)		probably null	Het
Dnah6	C	T	6: 73,165,360 (GRCm39)	V582M	probably benign	Het
Fndc3b	A	G	3: 27,521,552 (GRCm39)	L541P	probably damaging	Het
Folh1	T	C	7: 86,391,444 (GRCm39)	T384A	possibly damaging	Het
Gdpd3	T	C	7: 126,365,695 (GRCm39)	L18P	probably damaging	Het
Grxcr2	T	A	18: 42,132,047 (GRCm39)	K7N	probably damaging	Het
Gulo	A	G	14: 66,234,325 (GRCm39)	F246L	probably benign	Het
Inpp4b	A	T	8: 82,723,968 (GRCm39)	D500V	probably benign	Het
Ints4	C	T	7: 97,175,849 (GRCm39)	L647F	probably benign	Het
Kif17	T	A	4: 138,013,876 (GRCm39)	L264Q	possibly damaging	Het
Kif21a	T	C	15: 90,843,948 (GRCm39)	N1104S	possibly damaging	Het
Ly6e	T	G	15: 74,830,546 (GRCm39)	L132R	probably benign	Het
Mis18bp1	T	A	12: 65,185,452 (GRCm39)	H905L	probably damaging	Het
Nr2f2	A	G	7: 70,004,446 (GRCm39)	S269P	probably damaging	Het
Or2b2b	C	A	13: 21,858,787 (GRCm39)	C109F	probably benign	Het
Or2o1	G	A	11: 49,051,354 (GRCm39)	C171Y	probably damaging	Het
Or5d46	T	A	2: 88,170,771 (GRCm39)	N287K	probably damaging	Het
Pde8b	T	C	13: 95,166,910 (GRCm39)	I757V	probably damaging	Het
Psg23	A	T	7: 18,346,122 (GRCm39)	I191N	possibly damaging	Het
Slc12a4	A	T	8: 106,672,475 (GRCm39)		probably null	Het
Snph	A	T	2: 151,436,093 (GRCm39)	Y209*	probably null	Het
Tnfaip3	T	C	10: 18,882,649 (GRCm39)	H256R	probably damaging	Het
Tnip3	T	A	6: 65,573,107 (GRCm39)		probably benign	Het
Ttc3	T	A	16: 94,243,386 (GRCm39)	F1130Y	probably damaging	Het
Twnk	T	G	19: 44,998,627 (GRCm39)	V515G	probably damaging	Het
Usp24	T	A	4: 106,280,658 (GRCm39)	I2324K	probably benign	Het
Vwa7	T	C	17: 35,238,827 (GRCm39)	F305S	probably damaging	Het
Ythdc2	A	T	18: 44,983,735 (GRCm39)	Q567L	probably damaging	Het
Zbtb11	T	A	16: 55,818,523 (GRCm39)	I649K	probably damaging	Het
Zbtb49	T	C	5: 38,358,204 (GRCm39)	Y683C	probably damaging	Het
Zfhx4	A	T	3: 5,309,152 (GRCm39)	M793L	possibly damaging	Het
Zmym6	T	G	4: 127,002,437 (GRCm39)	I556R	probably damaging	Het
Zswim8	C	T	14: 20,764,780 (GRCm39)	P717S	probably benign	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
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

2014-01-21