Mutagenetix > Incidental Mutations

Incidental Mutation 'R5623:Diaph1'

441713

Institutional Source

Beutler Lab

Gene Symbol

Diaph1

Ensembl Gene

ENSMUSG00000024456

Gene Name

diaphanous related formin 1

Synonyms

Drf1, Dia1, D18Wsu154e, mDia1, Diap1, p140mDia

MMRRC Submission

043162-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37843601-37935476 bp(-) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to T at 37896093 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025337] [ENSMUST00000025337] [ENSMUST00000080033] [ENSMUST00000080033] [ENSMUST00000115629] [ENSMUST00000115629] [ENSMUST00000115631] [ENSMUST00000115631] [ENSMUST00000115634] [ENSMUST00000115634]

PDB Structure

Crystal structure of the core FH2 domain of mouse mDia1 [X-RAY DIFFRACTION]
Crystal structure of mDIA1 GBD-FH3 in complex with RhoC-GMPPNP [X-RAY DIFFRACTION]
Crystal structure of the N-terminal mDia1 Armadillo Repeat Region and Dimerisation Domain in complex with the mDia1 autoregulatory domain (DAD) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE DIMERIC REGULATORY DOMAIN OF MOUSE DIAPHANEOUS-RELATED FORMIN (DRF), MDIA1 [X-RAY DIFFRACTION]
Crystal structure of the autoinhibitory switch in Formin mDia1; the DID/DAD complex [X-RAY DIFFRACTION]
Mouse Profilin IIa in complex with a double repeat from the FH1 domain of mDia1 [X-RAY DIFFRACTION]
Crystal structure of MDIA1-TSH GBD-FH3 in complex with CDC42-GMPPNP [X-RAY DIFFRACTION]
Crystal structure of complex between amino and carboxy terminal fragments of mDia1 [X-RAY DIFFRACTION]
Autoinhibited Formin mDia1 Structure [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000025337

SMART Domains

Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Drf_GBD	84	268	1.07e-57	SMART
Drf_FH3	274	466	2.06e-68	SMART
coiled coil region	471	571	N/A	INTRINSIC
Pfam:Drf_FH1	609	756	6.1e-43	PFAM
FH2	761	1206	2.46e-182	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000025337

SMART Domains

Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Drf_GBD	84	268	1.07e-57	SMART
Drf_FH3	274	466	2.06e-68	SMART
coiled coil region	471	571	N/A	INTRINSIC
Pfam:Drf_FH1	609	756	6.1e-43	PFAM
FH2	761	1206	2.46e-182	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080033

SMART Domains

Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Drf_GBD	75	259	1.07e-57	SMART
Drf_FH3	265	457	2.06e-68	SMART
coiled coil region	462	562	N/A	INTRINSIC
Pfam:Drf_FH1	589	747	7.9e-52	PFAM
FH2	752	1197	3.73e-182	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080033

SMART Domains

Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Drf_GBD	75	259	1.07e-57	SMART
Drf_FH3	265	457	2.06e-68	SMART
coiled coil region	462	562	N/A	INTRINSIC
Pfam:Drf_FH1	589	747	7.9e-52	PFAM
FH2	752	1197	3.73e-182	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115629

SMART Domains

Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
Drf_GBD	40	224	1.07e-57	SMART
Drf_FH3	230	422	2.06e-68	SMART
coiled coil region	427	527	N/A	INTRINSIC
Pfam:Drf_FH1	554	712	7.6e-52	PFAM
FH2	717	1162	3.73e-182	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115629

SMART Domains

Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
Drf_GBD	40	224	1.07e-57	SMART
Drf_FH3	230	422	2.06e-68	SMART
coiled coil region	427	527	N/A	INTRINSIC
Pfam:Drf_FH1	554	712	7.6e-52	PFAM
FH2	717	1162	3.73e-182	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115631

SMART Domains

Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
Drf_GBD	40	224	1.07e-57	SMART
Drf_FH3	230	422	2.06e-68	SMART
coiled coil region	427	527	N/A	INTRINSIC
Pfam:Drf_FH1	554	712	1.1e-51	PFAM
FH2	717	1162	2.46e-182	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115631

SMART Domains

Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
Drf_GBD	40	224	1.07e-57	SMART
Drf_FH3	230	422	2.06e-68	SMART
coiled coil region	427	527	N/A	INTRINSIC
Pfam:Drf_FH1	554	712	1.1e-51	PFAM
FH2	717	1162	2.46e-182	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115634

SMART Domains

Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Drf_GBD	75	259	1.07e-57	SMART
Drf_FH3	265	457	2.06e-68	SMART
coiled coil region	462	562	N/A	INTRINSIC
Pfam:Drf_FH1	589	747	9.4e-52	PFAM
FH2	752	1197	2.46e-182	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115634

SMART Domains

Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Drf_GBD	75	259	1.07e-57	SMART
Drf_FH3	265	457	2.06e-68	SMART
coiled coil region	462	562	N/A	INTRINSIC
Pfam:Drf_FH1	589	747	9.4e-52	PFAM
FH2	752	1197	2.46e-182	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129688

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: This gene encodes a member of the formin family of proteins that play important roles in cytoskeletal rearragnement by nucleation of actin filaments. Mice lacking the encoded protein develop age-dependent myeloproliferative defects resembling human myeloproliferative syndrome and myelodysplastic syndromes. Trafficking of T lymphocytes to secondary lymphoid organs and egression of thymocytes from the thymus are impaired in these animals. Lack of the encoded protein in T lymphocytes and thymocytes also reduces chemotaxis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b1	T	G	18: 64,546,094	Q772P	possibly damaging	Het
B3gnt2	C	G	11: 22,837,018	A57P	probably damaging	Het
BC067074	T	C	13: 113,346,634	I1590T	possibly damaging	Het
Birc6	T	G	17: 74,528,656	D63E	probably damaging	Het
Ccdc13	T	C	9: 121,833,733	E72G	probably damaging	Het
Cfap221	C	T	1: 119,954,168	A297T	probably benign	Het
Chd1	T	A	17: 15,754,932	N1081K	probably damaging	Het
Chrm3	C	A	13: 9,877,387	V538L	possibly damaging	Het
Clec16a	T	A	16: 10,611,121	N37K	probably benign	Het
Cnksr3	T	A	10: 7,120,548	I229F	probably damaging	Het
Dchs1	T	C	7: 105,772,769	E148G	probably damaging	Het
Dis3l	A	G	9: 64,307,603	F895L	possibly damaging	Het
Dnah1	G	T	14: 31,286,023	D2142E	possibly damaging	Het
Dst	T	C	1: 34,190,133	V1944A	possibly damaging	Het
Eif4a2	C	T	16: 23,110,219		probably benign	Het
Ephb6	T	A	6: 41,616,481	M487K	probably benign	Het
Fgf18	T	G	11: 33,134,272	T61P	probably damaging	Het
G6pc2	A	G	2: 69,226,583	E191G	probably damaging	Het
Gm10717	C	T	9: 3,026,318	S55L	probably benign	Het
Gm5414	A	G	15: 101,625,811	F286S	probably damaging	Het
Gpcpd1	G	T	2: 132,534,717	A553E	probably damaging	Het
Gpr153	A	G	4: 152,281,941	D321G	possibly damaging	Het
Hecw2	T	A	1: 53,832,623	Q1388L	probably null	Het
Ighv14-3	A	C	12: 114,060,090	S36A	probably damaging	Het
Inpp5j	C	A	11: 3,494,766	G969V	probably damaging	Het
Kat5	G	A	19: 5,607,562	R307W	probably damaging	Het
Klk1b21	A	G	7: 44,105,565	S95G	probably damaging	Het
Mdm1	G	A	10: 118,150,789	V171I	possibly damaging	Het
Nfu1	TCGC	T	6: 87,016,206		probably benign	Het
Olfr175-ps1	C	T	16: 58,824,343	R122H	probably benign	Het
Olfr776	G	A	10: 129,261,032	V24M	probably benign	Het
Phkb	T	A	8: 85,843,048		probably benign	Het
Pkd1l3	A	T	8: 109,623,719	T399S	possibly damaging	Het
Prr14l	A	T	5: 32,844,508		probably benign	Het
Psg21	A	C	7: 18,655,014	L51R	probably damaging	Het
Ptprg	T	A	14: 12,153,857	I526N	probably damaging	Het
Rab1a	T	C	11: 20,201,626		probably benign	Het
Rims2	A	T	15: 39,478,615	Q620L	probably damaging	Het
Rnf215	T	G	11: 4,135,453	S58A	probably benign	Het
Scaper	A	C	9: 55,864,507	V375G	probably benign	Het
Sgk3	A	T	1: 9,802,295		probably benign	Het
Skiv2l	T	C	17: 34,847,432	K192E	probably benign	Het
Slc34a3	T	A	2: 25,233,300		probably null	Het
Sspn	T	A	6: 145,961,226	C52S	probably damaging	Het
Strip1	T	C	3: 107,626,826	E164G	possibly damaging	Het
Sult5a1	A	C	8: 123,157,442	S47A	probably damaging	Het
Svep1	T	C	4: 58,091,964	D1557G	possibly damaging	Het
Tdrd6	T	C	17: 43,629,333	I275V	probably damaging	Het
Thada	C	T	17: 84,191,983	V1929I	probably benign	Het
Tmem132b	G	A	5: 125,623,352	R318Q	probably damaging	Het
Tmem176b	T	G	6: 48,834,070	I259L	probably benign	Het
Tmppe	C	A	9: 114,405,896	P421Q	possibly damaging	Het
Tmprss11e	G	A	5: 86,709,456	Q333*	probably null	Het
Tpcn2	T	A	7: 145,267,334	R328W	possibly damaging	Het
Trem1	C	T	17: 48,237,055	T36I	probably damaging	Het
Trpm2	C	A	10: 77,932,139	R842L	probably damaging	Het
Zfp319	A	G	8: 95,325,571		probably benign	Het

Other mutations in Diaph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Diaph1	APN	18	37893348	critical splice donor site	probably null
IGL01432:Diaph1	APN	18	37897504	missense	unknown
IGL01646:Diaph1	APN	18	37893416	critical splice acceptor site	probably null
IGL01676:Diaph1	APN	18	37856188	nonsense	probably null
IGL01731:Diaph1	APN	18	37853709	critical splice acceptor site	probably benign
IGL01921:Diaph1	APN	18	37856208	missense	possibly damaging	0.73
IGL02200:Diaph1	APN	18	37890682	missense	unknown
IGL02258:Diaph1	APN	18	37853330	missense	probably damaging	0.99
IGL02325:Diaph1	APN	18	37853600	missense	probably damaging	1.00
IGL03304:Diaph1	APN	18	37854573	missense	possibly damaging	0.47
albatross	UTSW	18	37853679	nonsense	probably null
cucamonga	UTSW	18	37896093	critical splice donor site	probably null
damselfly	UTSW	18	37897550	nonsense	probably null
devastator	UTSW	18	37896093	critical splice donor site	probably null
Guangzhou	UTSW	18	37896093	critical splice donor site	probably null
seethrough	UTSW	18	37889769	missense	probably damaging	1.00
sheer	UTSW	18	37896093	critical splice donor site	probably benign
R0137:Diaph1	UTSW	18	37891849	missense	unknown
R0446:Diaph1	UTSW	18	37853590	missense	possibly damaging	0.94
R0523:Diaph1	UTSW	18	37856500	missense	possibly damaging	0.56
R1433:Diaph1	UTSW	18	37905134	missense	unknown
R1532:Diaph1	UTSW	18	37896093	critical splice donor site	probably null
R1534:Diaph1	UTSW	18	37896093	critical splice donor site	probably null
R1535:Diaph1	UTSW	18	37896093	critical splice donor site	probably null
R1536:Diaph1	UTSW	18	37896093	critical splice donor site	probably null
R1537:Diaph1	UTSW	18	37896093	critical splice donor site	probably null
R1611:Diaph1	UTSW	18	37900702	missense	unknown
R1756:Diaph1	UTSW	18	37854573	missense	possibly damaging	0.47
R1771:Diaph1	UTSW	18	37891018	missense	unknown
R1812:Diaph1	UTSW	18	37891018	missense	unknown
R2121:Diaph1	UTSW	18	37896389	missense	unknown
R3710:Diaph1	UTSW	18	37845484	missense	probably damaging	1.00
R3891:Diaph1	UTSW	18	37900638	splice site	probably benign
R3892:Diaph1	UTSW	18	37900638	splice site	probably benign
R4077:Diaph1	UTSW	18	37853583	missense	possibly damaging	0.68
R4079:Diaph1	UTSW	18	37853583	missense	possibly damaging	0.68
R4771:Diaph1	UTSW	18	37853551	missense	probably damaging	1.00
R4815:Diaph1	UTSW	18	37895203	missense	unknown
R5242:Diaph1	UTSW	18	37851635	missense	probably damaging	1.00
R5294:Diaph1	UTSW	18	37897550	nonsense	probably null
R5294:Diaph1	UTSW	18	37897580	missense	unknown
R5349:Diaph1	UTSW	18	37891072	missense	unknown
R5427:Diaph1	UTSW	18	37890595	missense	unknown
R5677:Diaph1	UTSW	18	37855951	missense	probably damaging	1.00
R5730:Diaph1	UTSW	18	37903776	missense	unknown
R5767:Diaph1	UTSW	18	37853355	missense	probably damaging	1.00
R5925:Diaph1	UTSW	18	37891935	missense	unknown
R6151:Diaph1	UTSW	18	37853353	missense	probably damaging	1.00
R6823:Diaph1	UTSW	18	37876383	intron	probably null
R6876:Diaph1	UTSW	18	37896373	missense	unknown
R6925:Diaph1	UTSW	18	37853679	nonsense	probably null
R6983:Diaph1	UTSW	18	37889769	missense	probably damaging	1.00
R7073:Diaph1	UTSW	18	37889814	critical splice acceptor site	probably null
R7248:Diaph1	UTSW	18	37889776	missense	probably benign	0.26
R7400:Diaph1	UTSW	18	37854502	missense	probably damaging	1.00
R7497:Diaph1	UTSW	18	37895300	critical splice acceptor site	probably null
R7544:Diaph1	UTSW	18	37893269	intron	probably null
R7703:Diaph1	UTSW	18	37890809	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTAGCTTTCCTAGTCTATGCTGAAG -3'
(R):5'- CACTAGGTGGAAAGGCTTGG -3'

Sequencing Primer
(F):5'- CTGGCCTGGAGTTCACTATGAAAAC -3'
(R):5'- GGATTTGGGTTCTCTCACCAC -3'

Posted On

2016-11-08