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, lamellipodin, 9430025M21Rik, Lpd

MMRRC Submission

042618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R5027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60521451-60606263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60535436 bp (GRCm39)

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
Abca14	T	G	7: 119,911,505 (GRCm39)	I1363R	probably benign	Het
Abcc1	T	C	16: 14,221,917 (GRCm39)		probably null	Het
Adgrf1	T	A	17: 43,614,638 (GRCm39)	F241I	probably damaging	Het
Afg3l1	T	C	8: 124,216,553 (GRCm39)	M264T	probably benign	Het
Ankle1	T	C	8: 71,861,623 (GRCm39)	S434P	probably damaging	Het
Apoe	C	T	7: 19,430,940 (GRCm39)	A101T	probably damaging	Het
Apol11a	G	T	15: 77,401,153 (GRCm39)	K213N	probably damaging	Het
Asap2	A	G	12: 21,254,082 (GRCm39)	M198V	probably damaging	Het
Atg4b	C	T	1: 93,714,297 (GRCm39)	A360V	probably benign	Het
B3gnt5	T	A	16: 19,588,444 (GRCm39)	V221D	probably damaging	Het
Baz2b	A	T	2: 59,928,988 (GRCm39)		probably benign	Het
Cep350	C	A	1: 155,809,100 (GRCm39)	W492L	probably benign	Het
Cln6	A	G	9: 62,754,375 (GRCm39)	Y139C	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Cul9	C	T	17: 46,811,708 (GRCm39)	E2507K	probably damaging	Het
Dgkz	A	T	2: 91,775,888 (GRCm39)	V125D	probably benign	Het
Dnah17	T	C	11: 117,993,365 (GRCm39)	M1127V	probably benign	Het
Dnajb1	C	A	8: 84,336,732 (GRCm39)	D67E	probably benign	Het
Dync1li1	A	G	9: 114,542,612 (GRCm39)	D258G	probably damaging	Het
Egflam	G	T	15: 7,283,125 (GRCm39)	P311T	probably benign	Het
Fbxw11	T	A	11: 32,602,811 (GRCm39)		probably benign	Het
Fn3krp	T	G	11: 121,320,274 (GRCm39)	D206E	probably benign	Het
Fsip2	A	G	2: 82,819,477 (GRCm39)	H5070R	possibly damaging	Het
Gm6605	T	C	7: 38,149,683 (GRCm39)		noncoding transcript	Het
Gna14	C	A	19: 16,580,636 (GRCm39)	T158K	probably benign	Het
Gstt2	A	T	10: 75,667,726 (GRCm39)	I243N	probably damaging	Het
Haus6	C	T	4: 86,523,933 (GRCm39)	D50N	possibly damaging	Het
Hcrtr2	A	G	9: 76,230,578 (GRCm39)	I70T	probably benign	Het
Herc1	G	A	9: 66,380,811 (GRCm39)	V3563I	probably benign	Het
Herc1	A	T	9: 66,411,900 (GRCm39)	I4707F	probably damaging	Het
Hic2	C	T	16: 17,076,611 (GRCm39)	A480V	possibly damaging	Het
Hsd17b3	A	G	13: 64,210,720 (GRCm39)	Y212H	probably damaging	Het
Hspa5	A	G	2: 34,665,827 (GRCm39)	K557R	probably damaging	Het
Iqch	T	C	9: 63,432,294 (GRCm39)	E367G	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lars2	A	G	9: 123,270,560 (GRCm39)	M551V	probably benign	Het
Lbp	T	C	2: 158,150,646 (GRCm39)	I57T	possibly damaging	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Litaf	T	C	16: 10,778,868 (GRCm39)	Q142R	possibly damaging	Het
Lpar5	G	C	6: 125,059,110 (GRCm39)	R277P	possibly damaging	Het
Muc6	T	A	7: 141,216,349 (GRCm39)	I2710F	probably benign	Het
Myo7b	T	A	18: 32,108,265 (GRCm39)	I1199F	probably benign	Het
Naca	A	C	10: 127,883,990 (GRCm39)	E2140D	possibly damaging	Het
Nup214	G	T	2: 31,881,329 (GRCm39)	G396C	probably damaging	Het
Or2v1	A	T	11: 49,025,451 (GRCm39)	Q144L	probably benign	Het
Or5aq7	T	A	2: 86,938,150 (GRCm39)	I194F	probably benign	Het
Or5j3	G	A	2: 86,128,540 (GRCm39)	V127I	possibly damaging	Het
Or7g33	A	G	9: 19,448,573 (GRCm39)	Y218H	probably damaging	Het
Or8b57	A	T	9: 40,003,690 (GRCm39)	S187T	probably damaging	Het
P4htm	A	G	9: 108,456,492 (GRCm39)	V436A	probably benign	Het
Pfkm	A	G	15: 98,017,307 (GRCm39)	I117V	possibly damaging	Het
Phlpp1	T	G	1: 106,209,201 (GRCm39)	V518G	probably damaging	Het
Piwil4	G	A	9: 14,621,240 (GRCm39)	L598F	probably damaging	Het
Polr1b	T	G	2: 128,965,803 (GRCm39)	I815R	possibly damaging	Het
Ppef2	T	C	5: 92,382,150 (GRCm39)	N515S	probably damaging	Het
Prp2rt	A	G	13: 97,235,648 (GRCm39)	I33T	probably benign	Het
Prpsap2	G	T	11: 61,631,830 (GRCm39)		probably null	Het
Rab27a	A	G	9: 73,002,695 (GRCm39)	D208G	probably benign	Het
Ralgds	A	G	2: 28,442,102 (GRCm39)		probably null	Het
Rbsn	A	G	6: 92,175,231 (GRCm39)	L281P	probably damaging	Het
Rigi	T	A	4: 40,208,845 (GRCm39)	M756L	probably benign	Het
Rmdn1	G	T	4: 19,588,533 (GRCm39)	G110*	probably null	Het
Rph3a	T	A	5: 121,092,512 (GRCm39)	E363V	possibly damaging	Het
Serpina16	G	T	12: 103,641,262 (GRCm39)	Y154*	probably null	Het
Sh2d3c	G	A	2: 32,634,814 (GRCm39)	E198K	possibly damaging	Het
Shank2	C	A	7: 143,812,842 (GRCm39)	Y663*	probably null	Het
Sharpin	T	C	15: 76,234,225 (GRCm39)		probably benign	Het
Slitrk1	G	A	14: 109,149,740 (GRCm39)	P324S	probably benign	Het
Sorbs2	T	A	8: 46,199,571 (GRCm39)		probably null	Het
Spag16	C	T	1: 69,962,963 (GRCm39)		probably benign	Het
Sycp2l	A	T	13: 41,283,247 (GRCm39)		probably null	Het
Synj1	A	T	16: 90,737,407 (GRCm39)		probably null	Het
Sytl1	T	C	4: 132,983,530 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,570,023 (GRCm39)		probably null	Het
Tnn	T	C	1: 159,972,781 (GRCm39)	T274A	probably damaging	Het
Trav14-2	T	A	14: 53,878,505 (GRCm39)	W35R	probably damaging	Het
Trim72	T	C	7: 127,607,137 (GRCm39)	M222T	probably damaging	Het
Trim9	A	G	12: 70,393,482 (GRCm39)	V154A	probably damaging	Het
Ttc7b	T	C	12: 100,268,001 (GRCm39)	Y266C	probably damaging	Het
Uchl3	T	A	14: 101,903,982 (GRCm39)	I43K	possibly damaging	Het
Vdac1	T	A	11: 52,279,305 (GRCm39)	N269K	possibly damaging	Het
Wdr72	T	A	9: 74,053,258 (GRCm39)	W187R	probably damaging	Het
Zfp30	T	A	7: 29,492,491 (GRCm39)	C248*	probably null	Het
Zfp940	A	T	7: 29,550,381 (GRCm39)		probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het

Other mutations in Raph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02300:Raph1	APN	1	60,565,106 (GRCm39)	missense	possibly damaging	0.76
IGL02900:Raph1	APN	1	60,542,022 (GRCm39)	missense	probably damaging	1.00
FR4976:Raph1	UTSW	1	60,528,426 (GRCm39)	intron	probably benign
R0048:Raph1	UTSW	1	60,539,764 (GRCm39)	missense	probably benign	0.03
R0048:Raph1	UTSW	1	60,539,764 (GRCm39)	missense	probably benign	0.03
R0049:Raph1	UTSW	1	60,565,058 (GRCm39)	missense	probably benign	0.03
R0049:Raph1	UTSW	1	60,565,058 (GRCm39)	missense	probably benign	0.03
R0227:Raph1	UTSW	1	60,565,136 (GRCm39)	missense	probably benign	0.00
R0387:Raph1	UTSW	1	60,549,655 (GRCm39)	intron	probably benign
R0607:Raph1	UTSW	1	60,565,028 (GRCm39)	missense	probably damaging	1.00
R1740:Raph1	UTSW	1	60,558,183 (GRCm39)	nonsense	probably null
R2274:Raph1	UTSW	1	60,537,659 (GRCm39)	missense	probably damaging	1.00
R3108:Raph1	UTSW	1	60,532,545 (GRCm39)	missense	probably benign	0.01
R3977:Raph1	UTSW	1	60,537,682 (GRCm39)	missense	probably benign	0.39
R4260:Raph1	UTSW	1	60,542,124 (GRCm39)	missense	possibly damaging	0.94
R4487:Raph1	UTSW	1	60,542,028 (GRCm39)	missense	possibly damaging	0.68
R4721:Raph1	UTSW	1	60,542,160 (GRCm39)	unclassified	probably benign
R4782:Raph1	UTSW	1	60,528,273 (GRCm39)	missense	probably damaging	1.00
R5037:Raph1	UTSW	1	60,535,381 (GRCm39)	splice site	probably null
R5106:Raph1	UTSW	1	60,572,459 (GRCm39)	missense	probably damaging	1.00
R5506:Raph1	UTSW	1	60,532,657 (GRCm39)	intron	probably benign
R5510:Raph1	UTSW	1	60,562,105 (GRCm39)	unclassified	probably benign
R5587:Raph1	UTSW	1	60,537,632 (GRCm39)	missense	probably damaging	1.00
R5591:Raph1	UTSW	1	60,540,905 (GRCm39)	unclassified	probably benign
R5619:Raph1	UTSW	1	60,529,414 (GRCm39)	intron	probably benign
R5776:Raph1	UTSW	1	60,529,315 (GRCm39)	intron	probably benign
R5802:Raph1	UTSW	1	60,527,832 (GRCm39)	missense	possibly damaging	0.81
R6742:Raph1	UTSW	1	60,564,879 (GRCm39)	missense	probably damaging	0.97
R7122:Raph1	UTSW	1	60,565,136 (GRCm39)	missense	probably benign	0.10
R7219:Raph1	UTSW	1	60,542,032 (GRCm39)	missense	unknown
R7251:Raph1	UTSW	1	60,529,027 (GRCm39)	missense	unknown
R7254:Raph1	UTSW	1	60,538,767 (GRCm39)	missense	unknown
R7732:Raph1	UTSW	1	60,572,447 (GRCm39)	missense	possibly damaging	0.82
R7979:Raph1	UTSW	1	60,565,148 (GRCm39)	missense	probably benign	0.00
R7986:Raph1	UTSW	1	60,535,445 (GRCm39)	missense
R8167:Raph1	UTSW	1	60,529,270 (GRCm39)	missense	unknown
R8168:Raph1	UTSW	1	60,538,779 (GRCm39)	missense	unknown
R8399:Raph1	UTSW	1	60,528,477 (GRCm39)	missense	unknown
R9036:Raph1	UTSW	1	60,542,124 (GRCm39)	missense	unknown
R9146:Raph1	UTSW	1	60,558,137 (GRCm39)	critical splice donor site	probably null
R9338:Raph1	UTSW	1	60,529,300 (GRCm39)	missense	unknown
R9381:Raph1	UTSW	1	60,540,959 (GRCm39)	missense	unknown
R9383:Raph1	UTSW	1	60,564,829 (GRCm39)	missense	unknown
R9399:Raph1	UTSW	1	60,565,154 (GRCm39)	missense	probably benign
R9454:Raph1	UTSW	1	60,528,753 (GRCm39)	missense	unknown
R9561:Raph1	UTSW	1	60,564,887 (GRCm39)	missense	possibly damaging	0.49
RF018:Raph1	UTSW	1	60,528,426 (GRCm39)	intron	probably benign
RF022:Raph1	UTSW	1	60,528,426 (GRCm39)	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