Mutagenetix > Incidental Mutation

Incidental Mutation 'R1536:Diaph1'

169558

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

039575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1536 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37843601-37935476 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 37896093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111297 (fasta)

Gene Model

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

AlphaFold

O08808

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 null
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 null
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 null
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 null
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 null
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

0.9584

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,970,665	I3F	probably benign	Het
4930590J08Rik	A	G	6: 91,917,035	N211S	probably benign	Het
A2ml1	A	T	6: 128,547,233	Y1145*	probably null	Het
Abca7	A	G	10: 80,014,230	D1972G	probably benign	Het
Adamts19	A	T	18: 59,052,615	D1187V	probably damaging	Het
Adcy6	G	C	15: 98,600,007	I421M	probably damaging	Het
Afap1	C	A	5: 35,974,491	H387Q	probably damaging	Het
Atp8b1	C	T	18: 64,545,264	V854M	probably damaging	Het
Auts2	C	T	5: 131,487,463		probably benign	Het
Cbll1	T	C	12: 31,487,856	D300G	probably damaging	Het
Cd200r4	A	T	16: 44,833,049	T61S	possibly damaging	Het
Chmp4c	G	T	3: 10,389,684	V207L	probably benign	Het
Cntn5	T	C	9: 9,976,316	T413A	possibly damaging	Het
Cox7a2	T	A	9: 79,758,581		probably null	Het
Cwc27	A	G	13: 104,797,306	L236P	probably damaging	Het
Dst	T	A	1: 34,260,372		probably benign	Het
Ear1	T	A	14: 43,819,126	H95L	probably damaging	Het
Enpp1	T	A	10: 24,641,834	H898L	probably benign	Het
Entpd5	G	A	12: 84,382,295	R321*	probably null	Het
Ercc6l2	C	A	13: 63,824,871	N177K	possibly damaging	Het
Ergic1	T	C	17: 26,641,706		probably null	Het
Erich6	A	T	3: 58,626,598	I336N	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Galnt3	A	T	2: 66,084,206	D622E	probably damaging	Het
Gjd4	T	A	18: 9,280,569	T170S	probably damaging	Het
Gm5611	G	A	9: 17,030,607		noncoding transcript	Het
Gpc5	T	A	14: 115,399,250	N448K	probably benign	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Man2b2	T	C	5: 36,820,927	T338A	probably benign	Het
Mbtps1	A	T	8: 119,546,125	S94T	probably benign	Het
Muc3a	A	T	5: 137,210,081	S205T	unknown	Het
Nav2	C	A	7: 49,545,934	D1019E	probably damaging	Het
Neurl4	T	A	11: 69,903,426	L236*	probably null	Het
Olfr272	A	G	4: 52,911,260	V178A	probably benign	Het
Plcxd3	T	C	15: 4,516,611		probably benign	Het
Pprc1	T	C	19: 46,071,526		probably benign	Het
Prkaa2	T	A	4: 105,075,450	N67I	probably damaging	Het
Prom1	T	A	5: 44,018,353	Y508F	probably benign	Het
Prx	A	G	7: 27,517,258	M534V	probably damaging	Het
Rps6kc1	C	T	1: 190,871,768	R219Q	possibly damaging	Het
Sbf2	T	C	7: 110,378,043	Y628C	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Spata31	A	T	13: 64,921,382	Q448L	probably damaging	Het
Stk35	T	C	2: 129,811,235		probably benign	Het
Stxbp5	T	A	10: 9,838,092	R234S	probably damaging	Het
Tifab	A	G	13: 56,176,288	V114A	probably benign	Het
Tiprl	A	G	1: 165,228,406	M49T	probably benign	Het
Tlr12	A	G	4: 128,617,752	L235P	possibly damaging	Het
Tmem57	A	G	4: 134,804,507	V617A	probably damaging	Het
Trim43b	A	T	9: 89,085,358	C407*	probably null	Het
Txndc17	C	A	11: 72,207,707	F28L	probably damaging	Het
Vmn2r27	T	C	6: 124,200,690	R452G	probably damaging	Het
Vmn2r3	T	A	3: 64,275,117	D387V	probably damaging	Het
Vps13b	T	C	15: 35,875,566	I2699T	probably damaging	Het
Zfp944	G	T	17: 22,339,716	Y183*	probably null	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
fishnets	UTSW	18	37895300	critical splice acceptor site	probably null
Guangzhou	UTSW	18	37896093	critical splice donor site	probably null
saran	UTSW	18	37855804	missense	probably damaging	1.00
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
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
R5623:Diaph1	UTSW	18	37896093	critical splice donor site	probably benign
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	splice site	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	splice site	probably null
R7703:Diaph1	UTSW	18	37890809	missense	unknown
R7834:Diaph1	UTSW	18	37853709	critical splice acceptor site	probably benign
R8073:Diaph1	UTSW	18	37891797	missense	unknown
R8378:Diaph1	UTSW	18	37891953	missense	unknown
R8847:Diaph1	UTSW	18	37854537	missense	possibly damaging	0.71
R8947:Diaph1	UTSW	18	37853701	missense	probably damaging	1.00
R8990:Diaph1	UTSW	18	37855804	missense	probably damaging	1.00
R9059:Diaph1	UTSW	18	37889745	missense	possibly damaging	0.53
R9189:Diaph1	UTSW	18	37891109	missense	unknown
R9297:Diaph1	UTSW	18	37889775	missense	probably benign	0.26
R9438:Diaph1	UTSW	18	37893390	missense	unknown
R9439:Diaph1	UTSW	18	37896359	critical splice donor site	probably null
R9538:Diaph1	UTSW	18	37853417	missense	probably damaging	1.00
R9596:Diaph1	UTSW	18	37891058	missense	unknown
R9752:Diaph1	UTSW	18	37903071	missense	unknown
R9762:Diaph1	UTSW	18	37854536	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGAATGACTGCCAGGGTGATG -3'
(R):5'- ACCTTTCCTTAGAGAGGCTGGACTG -3'

Sequencing Primer
(F):5'- gcatcaaactcagaagagatcc -3'
(R):5'- CAGCCCTGATCATCTCTGAG -3'

Posted On

2014-04-13