Mutagenetix > Incidental Mutation

Incidental Mutation 'R5510:Raph1'

431114

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

043071-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 60522946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027168] [ENSMUST00000090293] [ENSMUST00000140485] [ENSMUST00000142258]

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

noncoding transcript
Transcript: ENSMUST00000122243

Predicted Effect

noncoding transcript
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: ENSMUST00000142258

SMART Domains

Protein: ENSMUSP00000120638
Gene: ENSMUSG00000026014

Domain	Start	End	E-Value	Type
low complexity region	202	212	N/A	INTRINSIC

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,538,084		probably null	Het
1700014D04Rik	T	C	13: 59,742,420		probably null	Het
Adgrl4	T	G	3: 151,497,830	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,445,244	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,906,529		probably benign	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,729,693	V392A	probably benign	Het
Ap2b1	A	G	11: 83,336,737		probably null	Het
Arsg	A	G	11: 109,527,874	E232G	probably benign	Het
Axdnd1	A	G	1: 156,335,350	F144S	probably benign	Het
Bud13	T	A	9: 46,292,200	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,013	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046	T1194A	probably damaging	Het
Ccdc88c	T	C	12: 100,945,031	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,672,099	W176R	probably damaging	Het
Cenpf	A	T	1: 189,682,903	D136E	probably benign	Het
Dclk2	T	C	3: 86,906,037	I201V	possibly damaging	Het
Defa24	T	A	8: 21,734,596	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,277,175	N566D	probably damaging	Het
Dido1	C	A	2: 180,685,173	V386L	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,192,938	P141S	probably benign	Het
Fmn1	T	C	2: 113,596,369	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113	L535P	probably damaging	Het
Gimap3	T	A	6: 48,765,249	E249V	possibly damaging	Het
Git2	A	T	5: 114,743,774		probably null	Het
Gm4922	T	C	10: 18,783,997	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,828,196	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,082,118	G31S	possibly damaging	Het
Herc2	A	T	7: 56,206,771	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 31,946,747	R134C	unknown	Het
Igf1r	G	C	7: 68,193,359	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,681,459	E102G	probably damaging	Het
Kif1a	T	G	1: 93,041,692	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,848,624	L245S	probably damaging	Het
Med17	A	G	9: 15,270,404	S17P	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps18b	A	G	17: 35,914,323		probably benign	Het
Ms4a8a	A	G	19: 11,079,464	S85P	probably benign	Het
Msln	T	C	17: 25,749,873	Q487R	probably benign	Het
Myh13	A	G	11: 67,337,723	N363S	probably benign	Het
Myo6	T	C	9: 80,245,660	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,814,020	D688G	probably damaging	Het
Nsun4	C	T	4: 116,051,777	V529I	possibly damaging	Het
Olfr105-ps	A	T	17: 37,383,301	M245L	probably benign	Het
Olfr345	G	A	2: 36,640,963	R308K	probably benign	Het
Olfr495	G	A	7: 108,395,125	A2T	probably benign	Het
Phf11a	C	A	14: 59,279,385	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,566,847	C520Y	probably benign	Het
Plxna4	C	A	6: 32,178,358	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,521,397	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,249,627	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,272,936		probably null	Het
Prss55	T	A	14: 64,077,125	M199L	probably damaging	Het
Qrich1	G	A	9: 108,556,460	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,776,945	V47A	probably damaging	Het
Rgs12	T	C	5: 34,966,039	Y389H	probably damaging	Het
Sec24b	C	A	3: 130,040,895	G82V	probably damaging	Het
Sema4a	A	G	3: 88,449,986		probably null	Het
Slc25a11	A	T	11: 70,645,535	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,160,094	S340A	probably benign	Het
Slc32a1	T	A	2: 158,614,796	M457K	probably damaging	Het
Spint4	C	T	2: 164,700,892	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,738,303	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,333,395	G863D	probably damaging	Het
Tmem156	G	A	5: 65,075,574	T151M	probably benign	Het
Trip12	T	C	1: 84,768,680	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,386,121	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 10,102,618	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 85,151,815	D304E	probably benign	Het
Wdr93	T	A	7: 79,750,031	F123I	probably damaging	Het
Zfp672	A	T	11: 58,316,630	C288*	probably null	Het
Zp1	T	C	19: 10,919,405	Y90C	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
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
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'- GCATCCAGGCAACGCTTTAC -3'
(R):5'- GGTCTTAGAGATCAAGCAAGCAC -3'

Sequencing Primer
(F):5'- AGGCAACGCTTTACTTCATGC -3'
(R):5'- TGACTGCACTTGAAGTTCACAGC -3'

Posted On

2016-10-05