Mutagenetix > Incidental Mutations

Incidental Mutation 'R7073:Diaph1'

549070

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37843601-37935476 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 37889814 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078942 (fasta)

Gene Model

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	G	13: 81,561,474	E1133D	probably damaging	Het
Ankrd13b	A	T	11: 77,472,509	D505E	probably benign	Het
Ano1	C	T	7: 144,638,552	E361K	probably damaging	Het
Arap3	T	A	18: 37,974,442	K1341*	probably null	Het
Arhgef17	A	C	7: 100,929,991	Y583*	probably null	Het
Ash1l	G	A	3: 88,985,340	E1509K	probably damaging	Het
B430305J03Rik	T	G	3: 61,364,260	R21S	unknown	Het
Bbof1	A	G	12: 84,426,835	E313G	probably damaging	Het
Catsperb	C	T	12: 101,509,238	T347I	probably benign	Het
Ccdc24	G	T	4: 117,872,004	A92D	probably damaging	Het
Ccdc63	T	C	5: 122,111,010	T419A	probably benign	Het
Ccdc7a	C	T	8: 128,892,385	V893I	possibly damaging	Het
Ccdc88b	G	T	19: 6,853,962	D537E	probably benign	Het
Cd276	T	C	9: 58,537,332	S119G	probably damaging	Het
Cdkn3	T	C	14: 46,767,190	Y70H	possibly damaging	Het
Cdo1	G	A	18: 46,728,199		probably benign	Het
Cdr2	A	T	7: 120,982,024	F10Y	probably damaging	Het
Cep290	A	T	10: 100,539,003	K1370N	possibly damaging	Het
Crb1	T	A	1: 139,248,311	I645F	probably damaging	Het
Cul7	T	C	17: 46,658,731	W975R	probably damaging	Het
Ddx39b	A	C	17: 35,252,850	E324A	probably benign	Het
Dnah2	G	A	11: 69,430,492	R3917*	probably null	Het
Dnph1	T	A	17: 46,496,889	L27Q	probably damaging	Het
Duox2	A	G	2: 122,289,307	F880S	probably damaging	Het
Ell2	C	A	13: 75,761,887	L119M	probably damaging	Het
Enpep	A	T	3: 129,312,670	Y302*	probably null	Het
Ergic2	G	T	6: 148,195,209	H186Q	probably damaging	Het
Fam83b	T	C	9: 76,545,749	D12G	probably benign	Het
Fbxw16	A	T	9: 109,441,055	V206D	probably damaging	Het
Fhod1	A	T	8: 105,337,139	V278D	unknown	Het
Gba2	G	C	4: 43,573,753	Q180E	probably damaging	Het
Gm11127	A	T	17: 36,058,343	C7S	unknown	Het
Grhl3	G	A	4: 135,573,412	L5F	probably benign	Het
Ifit1bl1	C	T	19: 34,599,267		probably null	Het
Ift57	A	G	16: 49,763,867	T413A	probably benign	Het
Itga2	A	G	13: 114,859,613	F714S	probably damaging	Het
Jmy	A	G	13: 93,441,333	S776P	probably benign	Het
Kbtbd8	G	A	6: 95,121,833	A108T	probably damaging	Het
Kpna6	G	A	4: 129,654,346	A230V	probably damaging	Het
Lrfn1	C	T	7: 28,459,972	L439F	possibly damaging	Het
Lrrc1	T	A	9: 77,468,565	I147F	probably benign	Het
Lrrc7	C	T	3: 158,127,247	G1425R	probably damaging	Het
Madd	T	A	2: 91,162,509	I1022F	probably damaging	Het
Map2k2	A	T	10: 81,106,183	T13S	probably benign	Het
Mdc1	G	A	17: 35,854,068	V1459I	probably benign	Het
Mdh1b	G	A	1: 63,721,560	T114M	probably damaging	Het
Mfsd2a	T	C	4: 122,951,295	I208V	possibly damaging	Het
Mmrn1	T	A	6: 60,988,427	D1147E	probably damaging	Het
Nbeal2	T	A	9: 110,626,109	I2574F	probably damaging	Het
Nr1d1	T	G	11: 98,772,066	S34R	probably damaging	Het
Nr3c1	A	T	18: 39,486,396	D279E	probably benign	Het
Nrde2	T	C	12: 100,132,488	D640G	probably benign	Het
Odf4	A	G	11: 68,926,688	L58P	probably damaging	Het
Olfr1184	A	T	2: 88,487,307	I192F	probably benign	Het
Olfr1287	A	T	2: 111,449,286	I49F	probably benign	Het
Otud6b	A	C	4: 14,811,743	M300R	probably damaging	Het
Pamr1	T	A	2: 102,640,935	D534E	probably benign	Het
Pcdh7	T	A	5: 57,720,957	V618E	probably benign	Het
Pcgf6	A	C	19: 47,042,787	N266K	possibly damaging	Het
Plcz1	A	T	6: 140,023,123	Y196*	probably null	Het
Plxna1	A	T	6: 89,357,329	L106Q	probably damaging	Het
Qrich2	G	A	11: 116,446,875	A184V	probably damaging	Het
Rimkla	A	G	4: 119,468,078	L378S	probably benign	Het
Rufy1	G	T	11: 50,404,463	H472Q	probably benign	Het
Samd7	T	A	3: 30,756,482	M216K	probably benign	Het
Samd9l	A	T	6: 3,375,856	Y468*	probably null	Het
Scn2a	T	G	2: 65,728,443	L1194R	probably benign	Het
Sgo2a	T	A	1: 58,017,785	S1043T	possibly damaging	Het
Slc6a17	G	T	3: 107,471,439	H642Q	probably benign	Het
Smox	C	T	2: 131,522,111	A45V	possibly damaging	Het
St6galnac3	T	A	3: 153,411,637	T150S	possibly damaging	Het
Strip2	T	A	6: 29,941,912	I627N	possibly damaging	Het
Sv2c	A	T	13: 96,088,250	C184S	probably damaging	Het
Tm7sf2	A	T	19: 6,066,497		probably null	Het
Ttc28	T	C	5: 111,223,416	I608T	possibly damaging	Het
Vmn1r183	T	G	7: 24,055,501	L243R	probably damaging	Het
Vmn1r68	T	C	7: 10,527,851	T107A	probably benign	Het
Vnn3	G	A	10: 23,864,413	G205R	probably damaging	Het
Zfp516	T	A	18: 82,988,200		probably null	Het
Zpbp2	A	G	11: 98,552,509	D56G	probably damaging	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGGACATGGTAAGCTCTCC -3'
(R):5'- TCTGAAACCAGGAGATTTGGGG -3'

Sequencing Primer
(F):5'- ATGGTAAGCTCTCCATGTCTG -3'
(R):5'- CTGATTACCAGTGGACAGACC -3'

Posted On

2019-05-15