Mutagenetix > Incidental Mutation

Incidental Mutation 'R9596:Diaph1'

723309

Institutional Source

Beutler Lab

Gene Symbol

Diaph1

Ensembl Gene

ENSMUSG00000024456

Gene Name

diaphanous related formin 1

Synonyms

Drf1, Dia1, D18Wsu154e, mDia1, Diap1, p140mDia

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9596 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37843601-37935476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37891058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 576 (P576S)

Ref Sequence

ENSEMBL: ENSMUSP00000078942 (fasta)

Gene Model

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

AlphaFold

O08808

Predicted Effect

unknown
Transcript: ENSMUST00000025337
AA Change: P585S

SMART Domains

Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: P585S

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: P576S

SMART Domains

Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: P576S

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: P541S

SMART Domains

Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: P541S

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: P541S

SMART Domains

Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: P541S

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: P576S

SMART Domains

Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: P576S

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: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	G	T	1: 74,281,103	Q355K	probably benign	Het
AI661453	T	C	17: 47,469,486	S188P	unknown	Het
Atp10a	A	G	7: 58,827,805	S1251G	probably damaging	Het
Ccr10	A	G	11: 101,174,192	F171L	probably benign	Het
Clec10a	A	T	11: 70,169,147	D65V	probably damaging	Het
Clybl	A	T	14: 122,311,356	I57L	probably benign	Het
Col5a1	G	T	2: 27,929,539	E218*	probably null	Het
Dsg1c	T	A	18: 20,283,304	I754N	probably benign	Het
Fam47e	G	C	5: 92,578,536	R111P	probably benign	Het
Fastkd3	G	A	13: 68,587,687	V519M	probably damaging	Het
Fhod3	T	A	18: 25,060,335	Y634*	probably null	Het
Frem3	G	A	8: 80,615,322	V1415I	probably benign	Het
Gm498	G	T	7: 143,881,165		probably null	Het
Gm597	C	A	1: 28,776,607	M781I	probably benign	Het
Herc2	G	A	7: 56,184,847	S3191N		Het
Kif19a	A	T	11: 114,785,926	E527V	probably benign	Het
Lmbr1	C	A	5: 29,235,107	G420*	probably null	Het
Map3k9	A	G	12: 81,730,630	S526P	probably damaging	Het
Mink1	T	A	11: 70,607,089	L506Q	possibly damaging	Het
Mroh9	T	C	1: 163,066,007	I200V	probably damaging	Het
Mrps14	T	C	1: 160,199,552	V110A	possibly damaging	Het
Mta1	A	G	12: 113,126,850	Q209R	probably damaging	Het
Mtss1l	G	A	8: 110,732,057	S195N		Het
Nlgn1	T	A	3: 25,434,423	I583F	probably damaging	Het
Ntng1	T	C	3: 110,135,640		probably benign	Het
Olfr1490	A	G	19: 13,654,638	S70G	probably damaging	Het
Olfr209	A	G	16: 59,361,579	I213T	possibly damaging	Het
Olfr406	C	T	11: 74,269,463	H25Y	probably benign	Het
Olfr695	A	T	7: 106,714,205	Y159N	probably benign	Het
Olfr808	A	G	10: 129,768,119	T208A	probably damaging	Het
Pcdha12	A	T	18: 37,021,249	L340F	probably benign	Het
Pdk4	T	A	6: 5,491,842	M173L	probably benign	Het
Pds5a	A	G	5: 65,615,487	S1258P	probably benign	Het
Plcd1	A	T	9: 119,088,115	L22Q	probably benign	Het
Prag1	A	G	8: 36,102,959	D232G	probably damaging	Het
Rest	C	T	5: 77,275,294	T315M	probably damaging	Het
Scrn2	G	A	11: 97,033,081	V264M	probably damaging	Het
Sipa1l3	C	A	7: 29,332,266	V1513F	probably benign	Het
Slc44a1	T	A	4: 53,544,553	N421K	probably benign	Het
Smc6	G	T	12: 11,295,044	R662I	probably damaging	Het
Srcap	T	A	7: 127,531,864	W751R	probably damaging	Het
Sv2b	A	G	7: 75,117,714	F645L	probably damaging	Het
Sycp2	A	G	2: 178,348,419		probably null	Het
Syne4	A	G	7: 30,315,079	T41A	probably benign	Het
Tns3	G	A	11: 8,451,142	T1052M	possibly damaging	Het
Trap1	A	T	16: 4,053,510	I381N	probably damaging	Het
Tshz1	A	G	18: 84,013,779	S835P	possibly damaging	Het
Ttc37	T	C	13: 76,182,849	V1466A	possibly damaging	Het
Ube3b	T	A	5: 114,389,110	W130R	probably damaging	Het
Ubr5	G	A	15: 37,985,969	T2207I		Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn2r11	T	G	5: 109,053,697	I314L	possibly damaging	Het
Vmn2r15	T	A	5: 109,292,925	I356L	probably benign	Het
Vmn2r31	G	T	7: 7,394,293	T322N	probably benign	Het
Vmn2r8	A	T	5: 108,799,330	F519I	possibly damaging	Het
Wdr35	T	C	12: 8,986,092	F288L	probably benign	Het
Xab2	A	T	8: 3,613,018	V521D	probably damaging	Het
Zfp639	T	C	3: 32,520,120	F298S	probably damaging	Het
Zfp786	G	A	6: 47,820,472	R511*	probably null	Het
Zfp936	T	A	7: 43,190,410	C434S	probably damaging	Het
Zranb1	T	C	7: 132,950,417	F266L	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
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
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
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
R9752:Diaph1	UTSW	18	37903071	missense	unknown
R9762:Diaph1	UTSW	18	37854536	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACTTCCAGGCAAAGGAG -3'
(R):5'- GCTGCCTGCACATACTTCAG -3'

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

Posted On

2022-08-09