Mutagenetix > Incidental Mutation

Incidental Mutation 'R7732:Raph1'

595880

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 #

R7732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60533288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 40 (Q40L)

Ref Sequence

ENSEMBL: ENSMUSP00000120638 (fasta)

Gene Model

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

AlphaFold

F2Z3U3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027168
AA Change: Q40L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: Q40L

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

possibly damaging
Transcript: ENSMUST00000090293
AA Change: Q40L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: Q40L

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: Q40L

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: Q40L

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

possibly damaging
Transcript: ENSMUST00000142258
AA Change: Q40L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120638
Gene: ENSMUSG00000026014
AA Change: Q40L

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

Meta Mutation Damage Score

0.1362

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,191,248	S121T	possibly damaging	Het
Alpk1	T	C	3: 127,684,392	M69V		Het
Ap3m2	G	T	8: 22,797,089	D192E	probably benign	Het
Arel1	A	G	12: 84,927,889	V493A	probably benign	Het
Arhgap27	T	C	11: 103,340,043	H140R	probably benign	Het
Bcat2	C	T	7: 45,585,193	T166M	possibly damaging	Het
Brd4	C	A	17: 32,221,412	A318S	unknown	Het
Cabp4	T	A	19: 4,135,995	T270S	probably benign	Het
Cd22	G	A	7: 30,870,057	R545C	probably damaging	Het
Cdc23	C	A	18: 34,636,702		probably null	Het
Chst4	G	A	8: 110,029,882	Q450*	probably null	Het
Ctsc	G	A	7: 88,297,159	R132Q	probably damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Cyp2b19	A	G	7: 26,771,344	D470G	possibly damaging	Het
Dcc	C	T	18: 71,446,435	G689D	probably benign	Het
Disc1	G	T	8: 125,250,975	G779*	probably null	Het
Dock1	T	G	7: 134,744,970	D210E	probably benign	Het
Dynlt1a	A	G	17: 6,314,945	V14A	probably benign	Het
Epha10	A	G	4: 124,915,299	D779G		Het
Eprs	A	G	1: 185,372,939	H137R	probably benign	Het
Eps15l1	A	C	8: 72,380,976	L447R	probably damaging	Het
Esyt1	A	G	10: 128,521,825		probably null	Het
Fam221a	A	G	6: 49,372,629	K43E	probably benign	Het
Fanci	A	G	7: 79,412,652	S309G	possibly damaging	Het
Fbxo48	T	A	11: 16,953,601	W76R	probably damaging	Het
Fgd4	A	G	16: 16,484,595	V32A	probably benign	Het
Foxe1	A	T	4: 46,345,287	D365V	unknown	Het
Gabrd	C	T	4: 155,385,618	R378H	probably benign	Het
Gm3417	A	G	17: 14,967,685	V109A	probably benign	Het
Greb1	A	G	12: 16,673,863	S1862P	probably damaging	Het
H2al2b	T	C	Y: 2,720,436	H80R	possibly damaging	Het
Hectd4	T	C	5: 121,336,629	V2771A	probably benign	Het
Hoxa11	A	T	6: 52,243,435	F289L	probably damaging	Het
Hsp90aa1	A	G	12: 110,693,418	V412A	probably damaging	Het
Igsf11	A	G	16: 39,008,798	Q77R	probably damaging	Het
Lrig1	C	A	6: 94,626,377	M263I	probably benign	Het
Ms4a14	C	T	19: 11,301,683	M1170I	probably benign	Het
Ndufs7	G	A	10: 80,253,784		probably null	Het
Nectin4	A	T	1: 171,386,678	E467V	probably benign	Het
Olfr933	A	G	9: 38,976,264	E196G	probably damaging	Het
Otogl	G	A	10: 107,806,664	H1302Y	probably benign	Het
Pigg	A	G	5: 108,318,975	S241G	probably benign	Het
Pom121l12	T	A	11: 14,599,843	V183D	probably damaging	Het
Prickle2	T	A	6: 92,411,224	E455V	probably damaging	Het
Ptpn4	A	C	1: 119,692,802	V488G	probably benign	Het
Ranbp10	A	G	8: 105,773,091	I502T	probably benign	Het
Rgs22	A	T	15: 36,025,981	C1056S	probably damaging	Het
Serpinb6b	G	A	13: 32,968,607	S33N	probably damaging	Het
Serpinb6d	A	G	13: 33,669,099	N158S	probably benign	Het
Serping1	A	T	2: 84,770,104	V298D	probably damaging	Het
Sgsm1	T	A	5: 113,266,330	H637L	probably benign	Het
Sh3rf2	G	T	18: 42,101,688	V179L	probably damaging	Het
Slc1a3	T	C	15: 8,650,988	T129A	probably benign	Het
Slit1	T	A	19: 41,604,408	Y1202F	probably benign	Het
Spsb2	T	C	6: 124,809,693	S130P	probably damaging	Het
Sulf1	A	G	1: 12,842,789	D749G	probably benign	Het
Taok3	A	G	5: 117,193,748	E10G	possibly damaging	Het
Tbl3	G	T	17: 24,704,162	A368D	probably benign	Het
Tdh	T	A	14: 63,496,058	H127L	probably damaging	Het
Tmem205	C	A	9: 21,927,407		probably null	Het
Tmem30a	A	C	9: 79,780,544	F114L	possibly damaging	Het
Tmem55b	C	T	14: 50,930,633	G48D	possibly damaging	Het
Tmprss15	T	C	16: 79,003,420	K607E	probably benign	Het
Tnxb	A	T	17: 34,694,280	D1756V	probably damaging	Het
Trhde	A	G	10: 114,788,064	F312L	probably benign	Het
Ttn	G	A	2: 76,826,449	P12494L	probably null	Het
Vmn2r61	A	G	7: 42,266,673	R237G	probably benign	Het
Vps13c	A	T	9: 67,940,516	N2187Y	probably damaging	Het
Wdr64	A	G	1: 175,789,929	T692A	probably benign	Het
Whamm	A	G	7: 81,571,424	N35D	probably damaging	Het
Wnt2	T	C	6: 18,023,336	S105G	probably damaging	Het
Zfp108	T	A	7: 24,261,527	H514Q	probably benign	Het
Znfx1	T	C	2: 167,042,669	K888E	possibly damaging	Het
Zzz3	T	C	3: 152,448,842	Y577H	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
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
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'- ACCCTATGTTTTAAAGAAGTGGTGC -3'
(R):5'- ACAGACCTTGTACTGGATGC -3'

Sequencing Primer
(F):5'- TGTCTCTACCTGAATGTACATGTAC -3'
(R):5'- AGACCTTGTACTGGATGCTTTTTAAG -3'

Posted On

2019-11-12