Mutagenetix > Incidental Mutation

Incidental Mutation 'R5591:Raph1'

437500

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

043269-MU

Accession Numbers

Essential gene?

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

Stock #

R5591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 60501746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000127573

SMART Domains

Protein: ENSMUSP00000114596
Gene: ENSMUSG00000026014

Domain	Start	End	E-Value	Type
low complexity region	201	218	N/A	INTRINSIC
coiled coil region	295	320	N/A	INTRINSIC
RA	322	408	1e-15	SMART
PH	450	560	1.6e-13	SMART
low complexity region	581	604	N/A	INTRINSIC
low complexity region	656	661	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140485

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189383

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	T	C	7: 45,144,652	E13G	probably null	Het
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Bub1	A	T	2: 127,819,343	M276K	probably benign	Het
Casp14	A	T	10: 78,714,345	D156E	unknown	Het
Ccdc82	T	A	9: 13,272,503		probably null	Het
Cdc42bpb	T	C	12: 111,323,087	N436S	probably benign	Het
Cyp2j12	A	G	4: 96,141,122		probably benign	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
Daxx	T	C	17: 33,911,688	S226P	probably damaging	Het
Gm13101	G	T	4: 143,964,960	L398I	probably damaging	Het
Gm3676	T	C	14: 41,643,224	Y158C	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gnai1	A	T	5: 18,271,846	I285K	probably benign	Het
Gpr179	C	T	11: 97,345,755	V417I	probably benign	Het
Helz2	C	T	2: 181,240,258	M247I	probably damaging	Het
Hmcn2	C	T	2: 31,344,047	L275F	probably damaging	Het
Ifi27l2b	A	G	12: 103,451,307	V207A	probably damaging	Het
Isg20l2	C	T	3: 87,930,424		probably benign	Het
Itga6	A	G	2: 71,840,590	D221G	probably damaging	Het
Lca5l	T	C	16: 96,178,729	Y67C	probably damaging	Het
Loxl3	T	A	6: 83,048,037	C249S	probably damaging	Het
Luc7l3	T	C	11: 94,293,234		probably benign	Het
Lyst	T	G	13: 13,743,333	I3326S	probably damaging	Het
Mbd5	A	C	2: 49,274,669	Q958H	probably damaging	Het
Mlip	G	A	9: 77,230,482	S381L	probably damaging	Het
Mpp6	A	G	6: 50,180,179	S276G	probably benign	Het
Mrm3	G	A	11: 76,250,081	R305H	probably benign	Het
Olfr1261	A	G	2: 89,993,407	T5A	possibly damaging	Het
Olfr1328	A	T	4: 118,934,461	I127K	probably damaging	Het
Olfr170	T	A	16: 19,605,858	Q270L	probably damaging	Het
Olfr320	A	G	11: 58,684,125	N84S	probably benign	Het
Olfr347	A	T	2: 36,735,232	I304F	probably benign	Het
Olfr635	G	T	7: 103,980,113	R307L	probably benign	Het
Olfr709-ps1	A	T	7: 106,927,282	M59K	probably damaging	Het
P3h3	C	T	6: 124,854,695		probably benign	Het
Plekhg3	C	T	12: 76,560,292	S42L	possibly damaging	Het
Polq	A	G	16: 37,011,885		probably benign	Het
Pramef25	T	C	4: 143,948,807	Y483C	probably damaging	Het
Rnf144b	G	A	13: 47,242,954		probably null	Het
Ryr2	A	G	13: 11,595,014	S4309P	probably benign	Het
Sash1	A	T	10: 8,725,718	S1158T	probably benign	Het
Sim2	T	C	16: 94,097,189	V94A	probably damaging	Het
Sirt5	A	G	13: 43,371,841	D42G	possibly damaging	Het
Skiv2l2	A	T	13: 112,927,356	M1K	probably null	Het
Smarcal1	A	T	1: 72,591,253	K155N	probably damaging	Het
Spam1	A	G	6: 24,800,546	Y428C	probably damaging	Het
Spef2	T	C	15: 9,583,836	N1655S	probably benign	Het
Sympk	A	G	7: 19,054,039	E1160G	probably damaging	Het
Tmem192	A	G	8: 64,965,602	Y168C	possibly damaging	Het
Ttn	T	A	2: 76,709,668	M25998L	probably benign	Het
Usp48	A	G	4: 137,652,652		probably benign	Het
Vamp4	A	G	1: 162,588,242	I71V	possibly damaging	Het
Washc5	C	A	15: 59,369,163	D108Y	probably damaging	Het
Wdfy4	T	A	14: 33,107,130	H1043L	probably benign	Het
Zcchc14	C	T	8: 121,605,448		probably benign	Het
Zfp407	A	G	18: 84,561,137	F617S	probably damaging	Het
Zfp869	T	A	8: 69,707,692	N77I	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
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
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'- ACGAGCTCTGGACTTACACAG -3'
(R):5'- TGCACAGAAGGCTTTAAGGAC -3'

Sequencing Primer
(F):5'- TCTGGACTTACACAGAAGAAACCTAG -3'
(R):5'- GACAATATCAGTCGTCAACCTCTG -3'

Posted On

2016-10-26