Mutagenetix > Incidental Mutation

Incidental Mutation 'R8167:Raph1'

633812

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R8167 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60490111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 664 (M664L)

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: M664L

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: M664L

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: 99.5%
20x: 98.5%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	A	G	15: 98,588,667	H106R	probably benign	Het
4931406B18Rik	T	A	7: 43,497,864	I315F	possibly damaging	Het
A430078G23Rik	A	T	8: 3,353,636		probably benign	Het
Acin1	G	A	14: 54,664,880	T485I	probably benign	Het
Adamts2	A	T	11: 50,779,714	I552F	probably damaging	Het
Anapc11	T	A	11: 120,599,286	N9K	probably benign	Het
Atp9b	T	C	18: 80,847,183	T314A		Het
Birc6	T	A	17: 74,643,394	I3214N	probably damaging	Het
Catsperb	A	G	12: 101,591,455	I762V	probably benign	Het
Cblb	T	A	16: 52,166,002	M536K	probably benign	Het
Ccdc85c	C	A	12: 108,274,500	A212S	unknown	Het
Cdh23	T	A	10: 60,314,383	D2561V	probably benign	Het
Cdh23	T	A	10: 60,337,693	Y1672F	probably damaging	Het
Cep83	T	C	10: 94,728,717	S173P	possibly damaging	Het
Ctc1	C	T	11: 69,027,758	P530S	probably damaging	Het
D630045J12Rik	A	G	6: 38,190,549		probably null	Het
Dnah7b	A	T	1: 46,253,511	I3019F	possibly damaging	Het
Dsc1	T	C	18: 20,097,201	D349G	probably damaging	Het
Ehd2	C	G	7: 15,963,992	G107R	probably damaging	Het
Epha3	A	T	16: 63,568,441	W816R	probably damaging	Het
Fam135b	T	A	15: 71,532,991	S69C	probably null	Het
Fbxo43	A	G	15: 36,151,771	F600S	probably damaging	Het
Flnc	A	T	6: 29,455,922	D2117V	probably damaging	Het
Gas2l3	T	A	10: 89,426,480	T127S	probably damaging	Het
Gli3	T	G	13: 15,725,643	L1205R	probably benign	Het
Gm17093	A	T	14: 44,520,682	I107F		Het
Gm7298	T	A	6: 121,784,455	C1323*	probably null	Het
Gm8298	T	A	3: 59,877,211	D368E	probably benign	Het
H2-D1	A	G	17: 35,266,765	T89A		Het
Hira	T	G	16: 18,896,509	D52E	probably benign	Het
Ighv6-6	G	C	12: 114,434,905	Y80*	probably null	Het
Kat6b	C	T	14: 21,669,885	T1435I	probably damaging	Het
Kcna1	C	A	6: 126,643,480		probably benign	Het
Kif24	C	A	4: 41,392,957	R1284L	possibly damaging	Het
Kremen2	A	C	17: 23,743,340	C173G	probably damaging	Het
Krtap24-1	G	C	16: 88,611,819	Q140E	probably benign	Het
Lrrc66	C	A	5: 73,629,609	G133*	probably null	Het
Mast1	C	A	8: 84,921,358	R498L	probably damaging	Het
Myom3	T	C	4: 135,807,193	I1231T	possibly damaging	Het
Nid2	G	A	14: 19,810,063	V1350I	possibly damaging	Het
Olfr1062	A	G	2: 86,423,140	C179R	probably damaging	Het
Olfr1312	A	T	2: 112,042,444	V196D	possibly damaging	Het
Olfr823	T	C	10: 130,112,481	Q103R	probably damaging	Het
Pde4a	A	G	9: 21,206,173	D577G	possibly damaging	Het
Pde4d	T	A	13: 109,442,321	N36K	probably benign	Het
Plekhg1	A	T	10: 3,957,452	S845C		Het
Plekhg1	G	A	10: 3,957,453	S845N		Het
Plod1	C	T	4: 147,920,201	D481N	probably damaging	Het
Plxna4	T	A	6: 32,517,046	M212L	probably damaging	Het
Ppip5k1	C	A	2: 121,342,801	E464*	probably null	Het
Rbm11	A	C	16: 75,598,785	M115L	probably benign	Het
Rerg	T	C	6: 137,057,871	H45R	possibly damaging	Het
Rnf43	A	G	11: 87,727,406	E47G	probably benign	Het
Rsph1	A	G	17: 31,277,286		probably benign	Het
Safb	A	G	17: 56,585,286	E42G	unknown	Het
Scn1a	A	T	2: 66,324,838	D592E	probably damaging	Het
Sdf4	T	G	4: 156,008,922	V237G	possibly damaging	Het
Slc44a2	C	A	9: 21,346,772	H439Q	possibly damaging	Het
Smg7	A	T	1: 152,844,372	N761K	possibly damaging	Het
Snrpb2	A	G	2: 143,068,364	E114G	probably benign	Het
Ssh1	T	C	5: 113,951,990	D346G	possibly damaging	Het
Svopl	T	A	6: 38,017,044	I351F	probably damaging	Het
Tgfb2	A	G	1: 186,690,745	S136P	possibly damaging	Het
Thsd7a	A	T	6: 12,317,401	L1636*	probably null	Het
Tmc2	A	G	2: 130,241,568	T482A	probably benign	Het
Tnk2	C	A	16: 32,680,262	P798T	probably damaging	Het
Trim5	T	C	7: 104,278,423	Y170C	probably damaging	Het
Ttll10	T	C	4: 156,044,756	M310V	probably null	Het
Unc13c	T	A	9: 73,736,703	T1160S	probably damaging	Het
Usp25	A	T	16: 77,107,931	D795V	probably damaging	Het
Usp28	T	A	9: 49,037,848	V914E	probably damaging	Het
Utrn	A	T	10: 12,671,814	C1627*	probably null	Het
Vmn1r28	C	A	6: 58,266,067	F298L	noncoding transcript	Het
Vps29	T	C	5: 122,362,814	S69P	possibly damaging	Het
Zfp703	T	A	8: 26,979,754	L482H	probably damaging	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
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
R9338:Raph1	UTSW	1	60490141	missense	unknown
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'- TTAACTGGGCCATGGCTGAG -3'
(R):5'- TATGAATCGGTCCTACACTTCAC -3'

Sequencing Primer
(F):5'- CCAGGGGTTGGGGGTGG -3'
(R):5'- GAATCGGTCCTACACTTCACTTATG -3'

Posted On

2020-07-13