Mutagenetix > Incidental Mutation

Incidental Mutation 'R5027:Raph1'

391396

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

042618-MU

Accession Numbers

Essential gene?

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

Stock #

R5027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60496277 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 540 (C540F)

Ref Sequence

ENSEMBL: ENSMUSP00000027168 (fasta)

Gene Model

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

AlphaFold

F2Z3U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000027168
AA Change: C540F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: C540F

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 damaging
Transcript: ENSMUST00000090293
AA Change: C540F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: C540F

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: C488F

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: C488F

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 damaging
Transcript: ENSMUST00000182085
AA Change: C76F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188511

Meta Mutation Damage Score

0.9241

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (97/100)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,221	K54E	probably damaging	Het
Abca14	T	G	7: 120,312,282	I1363R	probably benign	Het
Abcc1	T	C	16: 14,404,053		probably null	Het
Adgrf1	T	A	17: 43,303,747	F241I	probably damaging	Het
Afg3l1	T	C	8: 123,489,814	M264T	probably benign	Het
Ankle1	T	C	8: 71,408,979	S434P	probably damaging	Het
Apoe	C	T	7: 19,697,015	A101T	probably damaging	Het
Apol11a	G	T	15: 77,516,953	K213N	probably damaging	Het
Asap2	A	G	12: 21,204,081	M198V	probably damaging	Het
Atg4b	C	T	1: 93,786,575	A360V	probably benign	Het
B3gnt5	T	A	16: 19,769,694	V221D	probably damaging	Het
Baz2b	A	T	2: 60,098,644		probably benign	Het
Cep350	C	A	1: 155,933,354	W492L	probably benign	Het
Cln6	A	G	9: 62,847,093	Y139C	probably damaging	Het
Col16a1	C	T	4: 130,079,195	T643M	probably benign	Het
Cul9	C	T	17: 46,500,782	E2507K	probably damaging	Het
Ddx58	T	A	4: 40,208,845	M756L	probably benign	Het
Dgkz	A	T	2: 91,945,543	V125D	probably benign	Het
Dnah17	T	C	11: 118,102,539	M1127V	probably benign	Het
Dnajb1	C	A	8: 83,610,103	D67E	probably benign	Het
Dync1li1	A	G	9: 114,713,544	D258G	probably damaging	Het
Egflam	G	T	15: 7,253,644	P311T	probably benign	Het
Fbxw11	T	A	11: 32,652,811		probably benign	Het
Fn3krp	T	G	11: 121,429,448	D206E	probably benign	Het
Fsip2	A	G	2: 82,989,133	H5070R	possibly damaging	Het
Gm6169	A	G	13: 97,099,140	I33T	probably benign	Het
Gm6605	T	C	7: 38,450,259		noncoding transcript	Het
Gna14	C	A	19: 16,603,272	T158K	probably benign	Het
Gstt2	A	T	10: 75,831,892	I243N	probably damaging	Het
Haus6	C	T	4: 86,605,696	D50N	possibly damaging	Het
Hcrtr2	A	G	9: 76,323,296	I70T	probably benign	Het
Herc1	G	A	9: 66,473,529	V3563I	probably benign	Het
Herc1	A	T	9: 66,504,618	I4707F	probably damaging	Het
Hic2	C	T	16: 17,258,747	A480V	possibly damaging	Het
Hsd17b3	A	G	13: 64,062,906	Y212H	probably damaging	Het
Hspa5	A	G	2: 34,775,815	K557R	probably damaging	Het
Iqch	T	C	9: 63,525,012	E367G	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Lars2	A	G	9: 123,441,495	M551V	probably benign	Het
Lbp	T	C	2: 158,308,726	I57T	possibly damaging	Het
Litaf	T	C	16: 10,961,004	Q142R	possibly damaging	Het
Lpar5	G	C	6: 125,082,147	R277P	possibly damaging	Het
Muc6	T	A	7: 141,636,436	I2710F	probably benign	Het
Myo7b	T	A	18: 31,975,212	I1199F	probably benign	Het
Naca	A	C	10: 128,048,121	E2140D	possibly damaging	Het
Nup214	G	T	2: 31,991,317	G396C	probably damaging	Het
Olfr1052	G	A	2: 86,298,196	V127I	possibly damaging	Het
Olfr259	T	A	2: 87,107,806	I194F	probably benign	Het
Olfr56	A	T	11: 49,134,624	Q144L	probably benign	Het
Olfr853	A	G	9: 19,537,277	Y218H	probably damaging	Het
Olfr983	A	T	9: 40,092,394	S187T	probably damaging	Het
P4htm	A	G	9: 108,579,293	V436A	probably benign	Het
Pfkm	A	G	15: 98,119,426	I117V	possibly damaging	Het
Phlpp1	T	G	1: 106,281,471	V518G	probably damaging	Het
Piwil4	G	A	9: 14,709,944	L598F	probably damaging	Het
Polr1b	T	G	2: 129,123,883	I815R	possibly damaging	Het
Ppef2	T	C	5: 92,234,291	N515S	probably damaging	Het
Prpsap2	G	T	11: 61,741,004		probably null	Het
Rab27a	A	G	9: 73,095,413	D208G	probably benign	Het
Ralgds	A	G	2: 28,552,090		probably null	Het
Rbsn	A	G	6: 92,198,250	L281P	probably damaging	Het
Rmdn1	G	T	4: 19,588,533	G110*	probably null	Het
Rph3a	T	A	5: 120,954,449	E363V	possibly damaging	Het
Serpina16	G	T	12: 103,675,003	Y154*	probably null	Het
Sh2d3c	G	A	2: 32,744,802	E198K	possibly damaging	Het
Shank2	C	A	7: 144,259,105	Y663*	probably null	Het
Sharpin	T	C	15: 76,350,025		probably benign	Het
Slitrk1	G	A	14: 108,912,308	P324S	probably benign	Het
Sorbs2	T	A	8: 45,746,534		probably null	Het
Spag16	C	T	1: 69,923,804		probably benign	Het
Sycp2l	A	T	13: 41,129,771		probably null	Het
Synj1	A	T	16: 90,940,519		probably null	Het
Sytl1	T	C	4: 133,256,219		probably benign	Het
Tkfc	A	T	19: 10,592,659		probably null	Het
Tnn	T	C	1: 160,145,211	T274A	probably damaging	Het
Trav14-2	T	A	14: 53,641,048	W35R	probably damaging	Het
Trim72	T	C	7: 128,007,965	M222T	probably damaging	Het
Trim9	A	G	12: 70,346,708	V154A	probably damaging	Het
Ttc7b	T	C	12: 100,301,742	Y266C	probably damaging	Het
Uchl3	T	A	14: 101,666,546	I43K	possibly damaging	Het
Vdac1	T	A	11: 52,388,478	N269K	possibly damaging	Het
Wdr72	T	A	9: 74,145,976	W187R	probably damaging	Het
Zfp30	T	A	7: 29,793,066	C248*	probably null	Het
Zfp940	A	T	7: 29,850,956		probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	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
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
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'- TTAGAACAGGAACTCAGACCTG -3'
(R):5'- CCCAGGTAGAAAGGTTTACATGG -3'

Sequencing Primer
(F):5'- GAACTCAGACCTGGGGAAAC -3'
(R):5'- CAGGTAGAAAGGTTTACATGGATATC -3'

Posted On

2016-06-06