Mutagenetix > Incidental Mutation

Incidental Mutation 'R9146:Raph1'

694611

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

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R9146 (G1)

Quality Score

188.009

Status

Validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 60518978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027168 (fasta)

Gene Model

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

AlphaFold

F2Z3U3

Predicted Effect

probably null
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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (54/55)

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
Ache	G	A	5: 137,290,815	G261D	probably damaging	Het
Adgrv1	T	A	13: 81,413,172	T5408S	probably benign	Het
Aff3	T	C	1: 38,320,119	N362D	probably benign	Het
Aff4	A	G	11: 53,408,136	N956S	probably benign	Het
Alg10b	A	G	15: 90,228,198	E415G	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
Cage1	T	C	13: 38,023,029	D280G	probably benign	Het
Catsperg1	G	C	7: 29,210,487	P72R	probably benign	Het
Cep290	A	G	10: 100,541,803	E1565G	probably benign	Het
Csmd1	T	A	8: 15,998,832	Y2290F	probably benign	Het
Cyp2c39	A	T	19: 39,538,900	H230L		Het
Efhb	A	G	17: 53,462,616	S222P	probably benign	Het
Emilin2	G	A	17: 71,274,336	T465M	probably damaging	Het
Ep400	A	T	5: 110,701,769	Y1431*	probably null	Het
Gm10912	T	C	2: 104,066,708	V64A	possibly damaging	Het
Gpat2	T	C	2: 127,431,286	S197P	possibly damaging	Het
Hc	T	C	2: 35,034,559	Y452C	probably damaging	Het
Hectd4	T	C	5: 121,349,034	I3364T	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Hmcn1	G	A	1: 150,598,390	T4767M	probably benign	Het
Hspa4l	A	G	3: 40,781,669	D595G	probably benign	Het
Kdm1a	G	T	4: 136,602,428	T53K	unknown	Het
Kirrel	T	C	3: 87,095,708	D126G	probably damaging	Het
Kit	T	A	5: 75,649,645	D822E	probably damaging	Het
Kiz	C	T	2: 146,863,820	T100M	probably benign	Het
Kmt2a	T	A	9: 44,814,641	K3663*	probably null	Het
Krt8	T	A	15: 101,998,935	I238F	probably damaging	Het
Ky	C	T	9: 102,542,206	P471S		Het
Lca5l	T	C	16: 96,159,798	E493G	probably damaging	Het
Lrrc2	C	T	9: 110,979,514	T273I	probably damaging	Het
Mcoln2	T	C	3: 146,163,548	S31P	probably benign	Het
Mmp1a	A	G	9: 7,464,997	D77G	probably damaging	Het
Mrgprb8	T	A	7: 48,389,452	C290*	probably null	Het
Nfe2l3	G	T	6: 51,433,192	A96S	probably damaging	Het
Notch2	A	G	3: 98,104,538	D624G	probably damaging	Het
Nup98	C	A	7: 102,138,830	R1011L	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr666	T	A	7: 104,893,245	I128F	probably damaging	Het
Olfr789	T	C	10: 129,487,523	V171A	possibly damaging	Het
Pcdh10	G	A	3: 45,379,916	A222T	probably benign	Het
Piezo1	G	A	8: 122,500,263	H420Y		Het
Pik3r1	C	A	13: 101,688,628		probably benign	Het
Plcb1	T	A	2: 135,340,695	Y642N	probably damaging	Het
Ralgapa2	T	A	2: 146,342,332	H1538L	probably benign	Het
Rnf213	T	C	11: 119,443,673	F3237S		Het
Sctr	A	G	1: 120,054,280	D286G	probably damaging	Het
Smyd3	A	G	1: 179,092,964	S202P	probably damaging	Het
Ssh2	G	A	11: 77,437,676	G356E	probably damaging	Het
Stat3	A	T	11: 100,893,666	S629R	probably benign	Het
Stc2	A	G	11: 31,367,847	V58A	probably damaging	Het
Tcerg1l	T	A	7: 138,229,859	D463V	probably damaging	Het
Tctn1	A	G	5: 122,251,682	V259A	possibly damaging	Het
Tmem248	A	G	5: 130,232,010	T139A	probably benign	Het
Trip12	G	T	1: 84,794,160	A89E	possibly damaging	Het
Vmn2r54	C	T	7: 12,632,720	V96I	probably benign	Het
Vmn2r79	C	T	7: 87,001,473	Q156*	probably null	Het
Zfp831	C	A	2: 174,645,668	T712N	possibly damaging	Het
Zfy1	A	T	Y: 726,033	H577Q	possibly damaging	Het
Zscan4-ps2	T	G	7: 11,517,752	S238R	possibly 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
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
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'- CACTGTACGGAAAGTCTTTGAG -3'
(R):5'- AGTGATCCATTTCTCTTGTGCATG -3'

Sequencing Primer
(F):5'- TGACTGTCCTCGAACTCAGAAATCTG -3'
(R):5'- CTCTTGTGCATGAGTAGGAGACC -3'

Posted On

2022-01-20