Mutagenetix > Incidental Mutation

Incidental Mutation 'R6876:Diaph1'

536440

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

044972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6876 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37976654-38068529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38029426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 335 (H335Q)

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: H344Q

SMART Domains

Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: H344Q

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: H335Q

SMART Domains

Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: H335Q

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: H300Q

SMART Domains

Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: H300Q

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: H300Q

SMART Domains

Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: H300Q

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: H335Q

SMART Domains

Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: H335Q

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: 99.4%
20x: 98.0%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 77,044,288 (GRCm39)	T201A	probably damaging	Het
Abca12	T	A	1: 71,302,667 (GRCm39)	D2184V	probably damaging	Het
Abcf1	C	T	17: 36,270,136 (GRCm39)	D641N	probably benign	Het
Adgrv1	C	A	13: 81,303,273 (GRCm39)		probably null	Het
Aftph	T	C	11: 20,659,744 (GRCm39)	E693G	probably damaging	Het
Ahnak	A	G	19: 8,991,484 (GRCm39)	D4256G	probably damaging	Het
Arv1	A	G	8: 125,457,651 (GRCm39)	K185R	probably damaging	Het
Ces4a	T	A	8: 105,871,624 (GRCm39)	V258D	possibly damaging	Het
Col6a5	T	C	9: 105,814,506 (GRCm39)	D502G	unknown	Het
Dtna	G	A	18: 23,744,167 (GRCm39)	V404I	probably benign	Het
Ephb1	T	C	9: 101,861,319 (GRCm39)	D615G	probably damaging	Het
Gimap3	A	T	6: 48,742,855 (GRCm39)	I25N	probably damaging	Het
Hao1	A	G	2: 134,343,069 (GRCm39)	V274A	probably benign	Het
Hirip3	T	C	7: 126,463,321 (GRCm39)	S426P	probably damaging	Het
Igkv4-69	T	C	6: 69,260,818 (GRCm39)	D103G	probably damaging	Het
Kdm8	T	C	7: 125,051,830 (GRCm39)	V141A	probably benign	Het
Mink1	G	T	11: 70,498,261 (GRCm39)	A553S	probably benign	Het
Mpl	T	A	4: 118,314,317 (GRCm39)	Y60F	probably damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo5a	C	A	9: 75,067,772 (GRCm39)	R609S	probably benign	Het
Myo5b	A	T	18: 74,841,026 (GRCm39)	H969L	probably benign	Het
Or1n2	T	A	2: 36,797,834 (GRCm39)	I292N	probably damaging	Het
Or2h2c	G	C	17: 37,422,098 (GRCm39)	Q259E	probably damaging	Het
Or2y16	T	C	11: 49,335,068 (GRCm39)	L130P	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Prodh2	T	A	7: 30,205,925 (GRCm39)	W207R	probably damaging	Het
Qng1	T	C	13: 58,532,910 (GRCm39)	D20G	probably damaging	Het
Rfx6	A	G	10: 51,596,087 (GRCm39)	K457E	probably damaging	Het
Sim1	A	G	10: 50,859,791 (GRCm39)	E551G	possibly damaging	Het
Soat2	T	C	15: 102,069,049 (GRCm39)	F358S	probably damaging	Het
Tes3-ps	A	G	13: 49,647,195 (GRCm39)	K24E	probably benign	Het
Txndc16	A	G	14: 45,400,497 (GRCm39)	F335L	possibly damaging	Het
Unc45b	T	C	11: 82,813,738 (GRCm39)	Y382H	probably benign	Het
Vmn2r60	A	G	7: 41,785,087 (GRCm39)	T100A	probably null	Het
Vmn2r93	T	A	17: 18,525,450 (GRCm39)	H369Q	probably benign	Het
Yy1	A	G	12: 108,772,518 (GRCm39)	I265V	probably benign	Het
Zfp54	A	T	17: 21,654,239 (GRCm39)	K244N	probably damaging	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
R1771:Diaph1	UTSW	18	38,024,071 (GRCm39)	missense	unknown
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
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'- AACACGCACAGCTGTACTTTC -3'
(R):5'- ATCTTTTGTGGAGCTCCAGAATG -3'

Sequencing Primer
(F):5'- ACACGCACAGCTGTACTTTCATATC -3'
(R):5'- TCCTTGTCCATCAGGTTG -3'

Posted On

2018-10-18