Mutagenetix > Incidental Mutation

Incidental Mutation 'R1771:Diaph1'

196645

Institutional Source

Beutler Lab

Gene Symbol

Diaph1

Ensembl Gene

ENSMUSG00000024456

Gene Name

diaphanous related formin 1

Synonyms

p140mDia, Dia1, mDia1, D18Wsu154e, Diap1, Drf1

MMRRC Submission

039802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1771 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

37976654-38068529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38024071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 589 (P589Q)

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

unknown
Transcript: ENSMUST00000025337
AA Change: P598Q

SMART Domains

Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: P598Q

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

unknown
Transcript: ENSMUST00000080033
AA Change: P589Q

SMART Domains

Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: P589Q

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

unknown
Transcript: ENSMUST00000115629
AA Change: P554Q

SMART Domains

Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: P554Q

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

unknown
Transcript: ENSMUST00000115631
AA Change: P554Q

SMART Domains

Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: P554Q

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

unknown
Transcript: ENSMUST00000115634
AA Change: P589Q

SMART Domains

Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: P589Q

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: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,773,061 (GRCm39)	S642P	probably damaging	Het
Adam30	T	C	3: 98,068,835 (GRCm39)	S95P	possibly damaging	Het
Ahnak	G	A	19: 8,991,117 (GRCm39)	V4134I	probably benign	Het
Ankrd13a	T	C	5: 114,941,649 (GRCm39)	V512A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm39)	S149R	probably damaging	Het
Atp2b4	C	A	1: 133,660,131 (GRCm39)	V384L	probably damaging	Het
Atp8a1	A	G	5: 67,805,074 (GRCm39)	W1014R	probably damaging	Het
Cand1	A	C	10: 119,044,211 (GRCm39)	N1054K	probably benign	Het
Car15	A	T	16: 17,654,730 (GRCm39)	V96E	probably damaging	Het
Cd1d1	T	C	3: 86,905,972 (GRCm39)	E101G	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam1	T	A	7: 25,171,469 (GRCm39)	T332S	probably benign	Het
Clca3a2	A	T	3: 144,787,171 (GRCm39)	V500E	probably benign	Het
Cul9	A	T	17: 46,848,738 (GRCm39)	M666K	probably benign	Het
Dennd3	A	G	15: 73,426,950 (GRCm39)	T776A	possibly damaging	Het
Dennd5a	T	C	7: 109,517,893 (GRCm39)	D581G	probably damaging	Het
Dgkh	A	G	14: 78,846,967 (GRCm39)	V371A	probably damaging	Het
Dhcr24	A	G	4: 106,435,450 (GRCm39)	T314A	probably benign	Het
Disp2	C	T	2: 118,621,778 (GRCm39)	Q837*	probably null	Het
Dusp3	A	T	11: 101,875,561 (GRCm39)	M1K	probably null	Het
Ecpas	A	G	4: 58,879,100 (GRCm39)	I63T	probably damaging	Het
Eddm13	G	T	7: 6,280,541 (GRCm39)		probably null	Het
Erich3	A	C	3: 154,454,109 (GRCm39)	D625A	possibly damaging	Het
Fat2	G	A	11: 55,201,691 (GRCm39)	S461L	probably benign	Het
Fmn2	A	G	1: 174,436,342 (GRCm39)		probably benign	Het
Foxi1	A	G	11: 34,157,594 (GRCm39)	Y144H	probably damaging	Het
Ftcd	G	A	10: 76,423,202 (GRCm39)	V458M	probably damaging	Het
Gm3604	C	A	13: 62,517,888 (GRCm39)	G157*	probably null	Het
Gnpda1	C	T	18: 38,466,380 (GRCm39)	R79Q	probably benign	Het
Gpr65	T	A	12: 98,242,259 (GRCm39)	I304K	probably damaging	Het
Grem1	T	C	2: 113,580,021 (GRCm39)	E160G	probably benign	Het
Gria2	T	A	3: 80,599,608 (GRCm39)	K759*	probably null	Het
Gsg1l	A	G	7: 125,557,745 (GRCm39)	S128P	probably damaging	Het
Hdac1	A	T	4: 129,415,221 (GRCm39)	I240N	probably damaging	Het
Hic2	C	T	16: 17,076,578 (GRCm39)	T469M	probably benign	Het
Hoxc10	A	C	15: 102,875,522 (GRCm39)	D77A	probably damaging	Het
Itprid1	T	C	6: 55,875,132 (GRCm39)	S361P	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Klk1b24	A	G	7: 43,837,653 (GRCm39)		probably null	Het
Letm1	T	A	5: 33,926,811 (GRCm39)	H162L	probably damaging	Het
Loxl3	A	T	6: 83,026,890 (GRCm39)	Y573F	probably damaging	Het
Macf1	A	T	4: 123,405,901 (GRCm39)	I330N	probably damaging	Het
Mchr1	T	A	15: 81,121,436 (GRCm39)	I62N	probably damaging	Het
Mcm8	C	T	2: 132,685,476 (GRCm39)	Q803*	probably null	Het
Msh3	T	G	13: 92,349,004 (GRCm39)	D1075A	probably benign	Het
Msh6	T	A	17: 88,291,950 (GRCm39)	V235D	probably benign	Het
Mthfd2l	A	T	5: 91,122,254 (GRCm39)	D253V	probably damaging	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Muc20	A	T	16: 32,614,222 (GRCm39)	I385N	probably damaging	Het
Myo6	G	T	9: 80,193,082 (GRCm39)	C829F	probably damaging	Het
Nbea	T	C	3: 55,841,940 (GRCm39)	I1914V	probably benign	Het
Ncor1	T	C	11: 62,217,938 (GRCm39)	E1462G	probably damaging	Het
Necab1	A	G	4: 15,111,267 (GRCm39)	Y54H	probably damaging	Het
Nlrp4b	A	G	7: 10,452,520 (GRCm39)	K15R	probably damaging	Het
Ntrk1	A	G	3: 87,696,937 (GRCm39)	S139P	probably benign	Het
Oas1d	T	C	5: 121,053,900 (GRCm39)	F120S	probably damaging	Het
Ofd1	A	G	X: 165,189,002 (GRCm39)	Y755H	probably benign	Het
Or10al2	A	G	17: 37,983,554 (GRCm39)	I213M	probably damaging	Het
Or13a25	A	G	7: 140,248,048 (GRCm39)	T276A	probably benign	Het
Or4f47	T	G	2: 111,973,065 (GRCm39)	Y258*	probably null	Het
Or5c1	T	A	2: 37,222,430 (GRCm39)	F224I	probably benign	Het
Or5p58	A	C	7: 107,694,816 (GRCm39)		probably null	Het
Or9s27	A	G	1: 92,516,837 (GRCm39)	I262V	probably benign	Het
Plekha6	T	C	1: 133,201,651 (GRCm39)	S355P	probably benign	Het
Prdm14	T	C	1: 13,189,082 (GRCm39)	K421E	probably damaging	Het
Prss36	A	G	7: 127,532,625 (GRCm39)	L731P	probably damaging	Het
Rad51d	A	G	11: 82,774,764 (GRCm39)	L97P	probably damaging	Het
Rbl1	C	A	2: 157,005,454 (GRCm39)		probably null	Het
Rnh1	G	T	7: 140,744,519 (GRCm39)	A52D	possibly damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Ryr2	A	C	13: 11,760,062 (GRCm39)		probably null	Het
Samd4	A	T	14: 47,326,532 (GRCm39)	N454I	probably damaging	Het
Sap130	T	C	18: 31,769,135 (GRCm39)	I32T	probably benign	Het
Sap30l	A	T	11: 57,696,925 (GRCm39)	N85I	probably damaging	Het
Sbf2	G	A	7: 110,060,353 (GRCm39)	Q204*	probably null	Het
Slc45a3	T	C	1: 131,904,694 (GRCm39)	W6R	possibly damaging	Het
Snx16	A	G	3: 10,484,221 (GRCm39)	V334A	probably damaging	Het
Soat1	C	T	1: 156,269,991 (GRCm39)	V143I	probably benign	Het
Sp8	T	A	12: 118,813,302 (GRCm39)	F386I	probably damaging	Het
Spag6	C	T	2: 18,738,928 (GRCm39)	S286L	probably benign	Het
Srpra	A	T	9: 35,124,147 (GRCm39)	N31I	possibly damaging	Het
Ssbp4	A	G	8: 71,051,502 (GRCm39)		probably null	Het
Stxbp2	G	T	8: 3,684,064 (GRCm39)	A124S	probably benign	Het
Tacc2	A	G	7: 130,343,970 (GRCm39)	K700R	probably damaging	Het
Tatdn2	A	T	6: 113,679,060 (GRCm39)		probably null	Het
Tecrl	G	A	5: 83,439,134 (GRCm39)	T226I	probably damaging	Het
Timeless	T	G	10: 128,083,477 (GRCm39)	V702G	probably benign	Het
Tjp1	A	T	7: 64,962,753 (GRCm39)	S1061R	probably benign	Het
Tmem39b	A	T	4: 129,587,011 (GRCm39)	C67S	probably damaging	Het
Tstd3	T	C	4: 21,759,475 (GRCm39)	Y99C	probably damaging	Het
Ttc39c	T	A	18: 12,817,881 (GRCm39)		probably null	Het
Ttll7	C	T	3: 146,600,160 (GRCm39)	P23S	probably benign	Het
Uba5	A	G	9: 103,927,107 (GRCm39)	F290S	probably damaging	Het
Ubap2l	T	C	3: 89,926,538 (GRCm39)	Y623C	probably damaging	Het
Ube3a	A	G	7: 58,925,714 (GRCm39)	E164G	probably damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm39)	N38S	probably benign	Het
Ugp2	G	A	11: 21,279,915 (GRCm39)	T283I	probably damaging	Het
Vmn1r55	A	T	7: 5,149,919 (GRCm39)	I168N	probably benign	Het
Wdr27	A	C	17: 15,112,703 (GRCm39)	S668A	probably damaging	Het
Wnt2	T	A	6: 18,008,696 (GRCm39)	N247I	probably damaging	Het
Zfp850	A	T	7: 27,684,700 (GRCm39)	C15*	probably null	Het
Zfp959	A	G	17: 56,204,677 (GRCm39)		probably null	Het

Other mutations in Diaph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Diaph1	APN	18	38,026,401 (GRCm39)	critical splice donor site	probably null
IGL01432:Diaph1	APN	18	38,030,557 (GRCm39)	missense	unknown
IGL01646:Diaph1	APN	18	38,026,469 (GRCm39)	critical splice acceptor site	probably null
IGL01676:Diaph1	APN	18	37,989,241 (GRCm39)	nonsense	probably null
IGL01731:Diaph1	APN	18	37,986,762 (GRCm39)	critical splice acceptor site	probably benign
IGL01921:Diaph1	APN	18	37,989,261 (GRCm39)	missense	possibly damaging	0.73
IGL02200:Diaph1	APN	18	38,023,735 (GRCm39)	missense	unknown
IGL02258:Diaph1	APN	18	37,986,383 (GRCm39)	missense	probably damaging	0.99
IGL02325:Diaph1	APN	18	37,986,653 (GRCm39)	missense	probably damaging	1.00
IGL03304:Diaph1	APN	18	37,987,626 (GRCm39)	missense	possibly damaging	0.47
albatross	UTSW	18	37,986,732 (GRCm39)	nonsense	probably null
cucamonga	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably null
damselfly	UTSW	18	38,030,603 (GRCm39)	nonsense	probably null
devastator	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably null
fishnets	UTSW	18	38,028,353 (GRCm39)	critical splice acceptor site	probably null
Guangzhou	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably null
saran	UTSW	18	37,988,857 (GRCm39)	missense	probably damaging	1.00
seethrough	UTSW	18	38,022,822 (GRCm39)	missense	probably damaging	1.00
sheer	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably benign
R0137:Diaph1	UTSW	18	38,024,902 (GRCm39)	missense	unknown
R0446:Diaph1	UTSW	18	37,986,643 (GRCm39)	missense	possibly damaging	0.94
R0523:Diaph1	UTSW	18	37,989,553 (GRCm39)	missense	possibly damaging	0.56
R1433:Diaph1	UTSW	18	38,038,187 (GRCm39)	missense	unknown
R1532:Diaph1	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably null
R1534:Diaph1	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably null
R1535:Diaph1	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably null
R1536:Diaph1	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably null
R1537:Diaph1	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably null
R1611:Diaph1	UTSW	18	38,033,755 (GRCm39)	missense	unknown
R1756:Diaph1	UTSW	18	37,987,626 (GRCm39)	missense	possibly damaging	0.47
R1812:Diaph1	UTSW	18	38,024,071 (GRCm39)	missense	unknown
R2121:Diaph1	UTSW	18	38,029,442 (GRCm39)	missense	unknown
R3710:Diaph1	UTSW	18	37,978,537 (GRCm39)	missense	probably damaging	1.00
R3891:Diaph1	UTSW	18	38,033,691 (GRCm39)	splice site	probably benign
R3892:Diaph1	UTSW	18	38,033,691 (GRCm39)	splice site	probably benign
R4077:Diaph1	UTSW	18	37,986,636 (GRCm39)	missense	possibly damaging	0.68
R4079:Diaph1	UTSW	18	37,986,636 (GRCm39)	missense	possibly damaging	0.68
R4771:Diaph1	UTSW	18	37,986,604 (GRCm39)	missense	probably damaging	1.00
R4815:Diaph1	UTSW	18	38,028,256 (GRCm39)	missense	unknown
R5242:Diaph1	UTSW	18	37,984,688 (GRCm39)	missense	probably damaging	1.00
R5294:Diaph1	UTSW	18	38,030,633 (GRCm39)	missense	unknown
R5294:Diaph1	UTSW	18	38,030,603 (GRCm39)	nonsense	probably null
R5349:Diaph1	UTSW	18	38,024,125 (GRCm39)	missense	unknown
R5427:Diaph1	UTSW	18	38,023,648 (GRCm39)	missense	unknown
R5623:Diaph1	UTSW	18	38,029,146 (GRCm39)	critical splice donor site	probably benign
R5677:Diaph1	UTSW	18	37,989,004 (GRCm39)	missense	probably damaging	1.00
R5730:Diaph1	UTSW	18	38,036,829 (GRCm39)	missense	unknown
R5767:Diaph1	UTSW	18	37,986,408 (GRCm39)	missense	probably damaging	1.00
R5925:Diaph1	UTSW	18	38,024,988 (GRCm39)	missense	unknown
R6151:Diaph1	UTSW	18	37,986,406 (GRCm39)	missense	probably damaging	1.00
R6823:Diaph1	UTSW	18	38,009,436 (GRCm39)	splice site	probably null
R6876:Diaph1	UTSW	18	38,029,426 (GRCm39)	missense	unknown
R6925:Diaph1	UTSW	18	37,986,732 (GRCm39)	nonsense	probably null
R6983:Diaph1	UTSW	18	38,022,822 (GRCm39)	missense	probably damaging	1.00
R7073:Diaph1	UTSW	18	38,022,867 (GRCm39)	critical splice acceptor site	probably null
R7248:Diaph1	UTSW	18	38,022,829 (GRCm39)	missense	probably benign	0.26
R7400:Diaph1	UTSW	18	37,987,555 (GRCm39)	missense	probably damaging	1.00
R7497:Diaph1	UTSW	18	38,028,353 (GRCm39)	critical splice acceptor site	probably null
R7544:Diaph1	UTSW	18	38,026,322 (GRCm39)	splice site	probably null
R7703:Diaph1	UTSW	18	38,023,862 (GRCm39)	missense	unknown
R7834:Diaph1	UTSW	18	37,986,762 (GRCm39)	critical splice acceptor site	probably benign
R8073:Diaph1	UTSW	18	38,024,850 (GRCm39)	missense	unknown
R8378:Diaph1	UTSW	18	38,025,006 (GRCm39)	missense	unknown
R8847:Diaph1	UTSW	18	37,987,590 (GRCm39)	missense	possibly damaging	0.71
R8947:Diaph1	UTSW	18	37,986,754 (GRCm39)	missense	probably damaging	1.00
R8990:Diaph1	UTSW	18	37,988,857 (GRCm39)	missense	probably damaging	1.00
R9059:Diaph1	UTSW	18	38,022,798 (GRCm39)	missense	possibly damaging	0.53
R9189:Diaph1	UTSW	18	38,024,162 (GRCm39)	missense	unknown
R9297:Diaph1	UTSW	18	38,022,828 (GRCm39)	missense	probably benign	0.26
R9438:Diaph1	UTSW	18	38,026,443 (GRCm39)	missense	unknown
R9439:Diaph1	UTSW	18	38,029,412 (GRCm39)	critical splice donor site	probably null
R9538:Diaph1	UTSW	18	37,986,470 (GRCm39)	missense	probably damaging	1.00
R9596:Diaph1	UTSW	18	38,024,111 (GRCm39)	missense	unknown
R9752:Diaph1	UTSW	18	38,036,124 (GRCm39)	missense	unknown
R9762:Diaph1	UTSW	18	37,987,589 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGCTGCACCTCTGGCTTATAAAC -3'
(R):5'- TGCTTCTTTAGGTTGCCAAGCTGTC -3'

Sequencing Primer
(F):5'- TGTACCTCCAGGCAAAGGG -3'
(R):5'- TTAGGTTGCCAAGCTGTCAAAAG -3'

Posted On

2014-05-23