Mutagenetix > Incidental Mutation

Incidental Mutation 'R9338:Raph1'

707278

Institutional Source

Beutler Lab

Gene Symbol

Raph1

Ensembl Gene

ENSMUSG00000026014

Gene Name

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

Synonyms

C730009O10Rik, Lpd, 9430025M21Rik, lamellipodin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R9338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60490141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 654 (S654P)

Ref Sequence

ENSEMBL: ENSMUSP00000121023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027168] [ENSMUST00000090293] [ENSMUST00000140485]

AlphaFold

F2Z3U3

Predicted Effect

probably benign
Transcript: ENSMUST00000027168

SMART Domains

Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014

Domain	Start	End	E-Value	Type
low complexity region	201	218	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
RA	322	408	1.63e-13	SMART
PH	450	560	3.38e-11	SMART
low complexity region	581	604	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090293

SMART Domains

Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014

Domain	Start	End	E-Value	Type
low complexity region	201	218	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
RA	322	408	1.63e-13	SMART
PH	450	560	3.38e-11	SMART
low complexity region	581	604	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000140485
AA Change: S654P

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: S654P

Domain	Start	End	E-Value	Type
low complexity region	201	218	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
RA	270	356	1.63e-13	SMART
PH	398	508	3.38e-11	SMART
low complexity region	529	552	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182085

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells exhibit background sensitive neonatal or postnatal lethality, decreased body size, belly spotting and decreased melanocyte numbers in the trunk. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Adam30	G	A	3: 98,162,813	G654D	probably damaging	Het
Cct3	T	C	3: 88,318,399	V343A	probably benign	Het
Col11a2	A	G	17: 34,047,230	T358A	unknown	Het
Cox6a2	T	C	7: 128,205,742	Y94C	probably damaging	Het
Cubn	T	A	2: 13,381,892	I1521F	probably damaging	Het
Dclk3	C	A	9: 111,439,305	A14E	unknown	Het
Dlgap2	T	C	8: 14,179,683		probably null	Het
Dopey2	C	A	16: 93,803,560	Q2042K	probably damaging	Het
Ech1	A	G	7: 28,826,002	S61G	probably null	Het
Ext2	T	A	2: 93,696,258	N678Y	probably damaging	Het
Fgfr2	G	T	7: 130,261,831	C28*	probably null	Het
Gm11487	T	C	4: 73,402,008	E178G	possibly damaging	Het
Gon4l	C	A	3: 88,901,712	D1754E	probably benign	Het
Hivep2	T	A	10: 14,128,949	C430*	probably null	Het
Htr7	C	T	19: 35,964,380		probably null	Het
Idh3b	A	T	2: 130,280,472	M331K	probably damaging	Het
Ighv2-7	A	T	12: 113,807,498	F56I	probably benign	Het
Inpp5k	C	T	11: 75,645,585	H330Y	probably damaging	Het
Kif26b	T	C	1: 178,916,493	Y1385H	probably damaging	Het
Mad1l1	A	G	5: 140,088,806	L543P	probably damaging	Het
Mdn1	A	T	4: 32,666,536	H158L	probably benign	Het
Mpp2	T	A	11: 102,060,423	T511S	probably benign	Het
Msh4	T	C	3: 153,867,807	I737V	possibly damaging	Het
Myo15b	T	C	11: 115,871,412	L1186P		Het
Nckap1l	A	G	15: 103,471,564	T346A	probably benign	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Npy5r	T	C	8: 66,682,006	N45S	probably benign	Het
Olfr771	T	C	10: 129,160,741	N81S	probably benign	Het
Pde6a	G	A	18: 61,221,037	A145T	probably damaging	Het
Pfkp	A	C	13: 6,584,688	S678A	probably damaging	Het
Phxr2	A	G	10: 99,126,181		probably benign	Het
Pi4ka	C	A	16: 17,317,363	L942F		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2g4e	T	A	2: 120,189,433	T179S	probably benign	Het
Popdc2	G	A	16: 38,374,147	C310Y	probably benign	Het
Ppip5k1	C	T	2: 121,323,346	R113Q		Het
Prmt7	C	T	8: 106,235,033	R193C	unknown	Het
Prph	G	C	15: 99,057,478	R442P	probably damaging	Het
Prrc2b	A	G	2: 32,208,767	Y697C	probably damaging	Het
Ptprm	T	A	17: 66,762,148	R962S	probably damaging	Het
Reln	A	G	5: 21,997,939	F1288L	probably damaging	Het
Rhot1	T	A	11: 80,254,742	I553N	probably benign	Het
Rnf168	T	C	16: 32,291,983		probably null	Het
Slamf6	T	A	1: 171,919,590		probably benign	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,853,553		probably benign	Het
Taf4b	C	T	18: 14,821,498	P544S	probably benign	Het
Tbc1d24	A	G	17: 24,208,403	V195A	probably benign	Het
Tomm70a	A	G	16: 57,122,036	M59V	probably benign	Het
Trip12	A	G	1: 84,749,298	S1184P	probably damaging	Het
Trrap	A	G	5: 144,791,115	S549G	probably benign	Het
Unc5d	T	A	8: 29,219,443		probably benign	Het
Ush2a	G	A	1: 188,576,292		probably null	Het
Usp45	T	C	4: 21,784,755	V147A	probably damaging	Het
Vmn2r77	T	A	7: 86,811,786	N773K	probably damaging	Het
Vps13c	A	T	9: 67,951,695	N2809I	probably damaging	Het
Yeats2	T	A	16: 20,213,328	S984R	possibly damaging	Het
Yeats2	T	A	16: 20,222,783	L1141Q	probably damaging	Het
Zfp58	T	A	13: 67,491,275	T366S	probably benign	Het

Other mutations in Raph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02300:Raph1	APN	1	60525947	missense	possibly damaging	0.76
IGL02900:Raph1	APN	1	60502863	missense	probably damaging	1.00
FR4976:Raph1	UTSW	1	60489267	intron	probably benign
R0048:Raph1	UTSW	1	60500605	missense	probably benign	0.03
R0048:Raph1	UTSW	1	60500605	missense	probably benign	0.03
R0049:Raph1	UTSW	1	60525899	missense	probably benign	0.03
R0049:Raph1	UTSW	1	60525899	missense	probably benign	0.03
R0227:Raph1	UTSW	1	60525977	missense	probably benign	0.00
R0387:Raph1	UTSW	1	60510496	intron	probably benign
R0607:Raph1	UTSW	1	60525869	missense	probably damaging	1.00
R1740:Raph1	UTSW	1	60519024	nonsense	probably null
R2274:Raph1	UTSW	1	60498500	missense	probably damaging	1.00
R3108:Raph1	UTSW	1	60493386	missense	probably benign	0.01
R3977:Raph1	UTSW	1	60498523	missense	probably benign	0.39
R4260:Raph1	UTSW	1	60502965	missense	possibly damaging	0.94
R4487:Raph1	UTSW	1	60502869	missense	possibly damaging	0.68
R4721:Raph1	UTSW	1	60503001	unclassified	probably benign
R4782:Raph1	UTSW	1	60489114	missense	probably damaging	1.00
R5027:Raph1	UTSW	1	60496277	missense	probably damaging	1.00
R5037:Raph1	UTSW	1	60496222	splice site	probably null
R5106:Raph1	UTSW	1	60533300	missense	probably damaging	1.00
R5506:Raph1	UTSW	1	60493498	intron	probably benign
R5510:Raph1	UTSW	1	60522946	unclassified	probably benign
R5587:Raph1	UTSW	1	60498473	missense	probably damaging	1.00
R5591:Raph1	UTSW	1	60501746	unclassified	probably benign
R5619:Raph1	UTSW	1	60490255	intron	probably benign
R5776:Raph1	UTSW	1	60490156	intron	probably benign
R5802:Raph1	UTSW	1	60488673	missense	possibly damaging	0.81
R6742:Raph1	UTSW	1	60525720	missense	probably damaging	0.97
R7122:Raph1	UTSW	1	60525977	missense	probably benign	0.10
R7219:Raph1	UTSW	1	60502873	missense	unknown
R7251:Raph1	UTSW	1	60489868	missense	unknown
R7254:Raph1	UTSW	1	60499608	missense	unknown
R7732:Raph1	UTSW	1	60533288	missense	possibly damaging	0.82
R7979:Raph1	UTSW	1	60525989	missense	probably benign	0.00
R7986:Raph1	UTSW	1	60496286	missense
R8167:Raph1	UTSW	1	60490111	missense	unknown
R8168:Raph1	UTSW	1	60499620	missense	unknown
R8399:Raph1	UTSW	1	60489318	missense	unknown
R9036:Raph1	UTSW	1	60502965	missense	unknown
R9146:Raph1	UTSW	1	60518978	critical splice donor site	probably null
R9381:Raph1	UTSW	1	60501800	missense	unknown
R9383:Raph1	UTSW	1	60525670	missense	unknown
R9399:Raph1	UTSW	1	60525995	missense	probably benign
R9454:Raph1	UTSW	1	60489594	missense	unknown
R9561:Raph1	UTSW	1	60525728	missense	possibly damaging	0.49
RF018:Raph1	UTSW	1	60489267	intron	probably benign
RF022:Raph1	UTSW	1	60489267	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTAACTGGGCCATGGCTGAG -3'
(R):5'- GGAGTCTATGAATCGGTCCTAC -3'

Sequencing Primer
(F):5'- AGGGGGTGGAGGAATAACTC -3'
(R):5'- GAGTCTATGAATCGGTCCTACACTTC -3'

Posted On

2022-04-18