Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02900:Raph1'

363570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Raph1

Ensembl Gene

ENSMUSG00000026014

Gene Name

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

Synonyms

C730009O10Rik, Lpd, 9430025M21Rik, lamellipodin

Accession Numbers

Essential gene?

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

Stock #

IGL02900

Quality Score

Status

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60502863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 364 (D364G)

Ref Sequence

ENSEMBL: ENSMUSP00000087763 (fasta)

Gene Model

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

AlphaFold

F2Z3U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000027168
AA Change: D364G

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

SMART Domains

Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: D364G

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: D364G

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

SMART Domains

Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: D364G

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: D312G

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: D312G

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: ENSMUST00000182085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189383

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,948	T23N	possibly damaging	Het
Angpt4	T	A	2: 151,911,471	V47E	probably damaging	Het
Arhgef11	G	A	3: 87,733,160	R1208Q	probably benign	Het
Calb1	T	C	4: 15,895,695		probably benign	Het
Capn11	G	T	17: 45,630,614		probably null	Het
Carmil2	T	A	8: 105,695,519	I1140N	probably damaging	Het
Cnn3	A	T	3: 121,451,494	T23S	probably benign	Het
Colgalt2	C	T	1: 152,508,730	T607M	probably damaging	Het
Cyp46a1	T	G	12: 108,343,091	V93G	probably damaging	Het
Dcaf6	T	C	1: 165,399,775	Y261C	probably damaging	Het
Dnah10	A	G	5: 124,801,822	Y2715C	probably damaging	Het
Dsg1a	G	T	18: 20,328,656		probably benign	Het
Eml4	C	T	17: 83,477,992	P862L	probably benign	Het
Gm13088	A	T	4: 143,655,515	F204I	possibly damaging	Het
Gm5414	T	C	15: 101,627,807	T128A	probably damaging	Het
Gp9	G	T	6: 87,779,433	W143C	probably damaging	Het
Hipk2	T	C	6: 38,729,944	I670V	probably damaging	Het
Hoxa10	T	C	6: 52,232,561	K77R	possibly damaging	Het
Kcna1	T	G	6: 126,643,094	S88R	probably damaging	Het
Kif1b	A	T	4: 149,180,809	S1758T	possibly damaging	Het
Klk11	A	G	7: 43,778,413	T182A	probably damaging	Het
Lrp1	G	A	10: 127,576,647		probably benign	Het
Magi1	A	G	6: 93,686,873	S991P	probably damaging	Het
Mast4	T	A	13: 102,735,676	T2203S	probably benign	Het
Mxra8	A	G	4: 155,841,119	E95G	possibly damaging	Het
Mxra8	A	G	4: 155,841,211		probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr112	A	G	17: 37,563,849	I154T	possibly damaging	Het
Olfr452	T	A	6: 42,790,874	Y278*	probably null	Het
Olfr967	A	T	9: 39,750,605	H73L	probably benign	Het
Olfr971	T	A	9: 39,839,812	I126N	probably damaging	Het
Pbx4	A	G	8: 69,866,566	E249G	probably damaging	Het
Pkd1l2	T	C	8: 117,024,091	E1727G	probably benign	Het
Plec	T	G	15: 76,186,214	D932A	probably damaging	Het
Rps29	T	A	12: 69,159,051	H3L	probably damaging	Het
Sema4c	A	T	1: 36,550,745	C509*	probably null	Het
Srgap2	A	T	1: 131,411,796		probably benign	Het
Stam2	A	T	2: 52,708,197	D243E	probably benign	Het
Stxbp4	A	G	11: 90,607,035	L146P	probably benign	Het
Teddm3	G	T	16: 21,153,150	T223K	probably benign	Het
Tfap2d	A	T	1: 19,119,250	N285Y	probably damaging	Het
Tmprss3	T	A	17: 31,184,579	D416V	probably damaging	Het
Vmn1r71	T	A	7: 10,748,674	Y29F	probably benign	Het
Vmn2r84	T	C	10: 130,387,992		probably benign	Het
Washc2	G	T	6: 116,227,474	D362Y	probably damaging	Het
Wbp2nl	T	C	15: 82,313,834	S191P	probably benign	Het
Zfp608	T	C	18: 54,946,793	T307A	probably damaging	Het
Zfp970	T	C	2: 177,474,817		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
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
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

Posted On

2015-12-18