Mutagenetix > Incidental Mutation

Incidental Mutation 'R0048:Raph1'

16220

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

038342-MU

Accession Numbers

Essential gene?

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

Stock #

R0048 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60500605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 423 (K423E)

Gene Model

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

AlphaFold

F2Z3U3

Predicted Effect

probably benign
Transcript: ENSMUST00000027168
AA Change: K423E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: K423E

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
AA Change: K423E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: K423E

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: ENSMUST00000127573
AA Change: K423E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114596
Gene: ENSMUSG00000026014
AA Change: K423E

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

unknown
Transcript: ENSMUST00000140485
AA Change: K371E

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: K371E

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: ENSMUST00000188511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189383

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 90.1%
3x: 87.7%
10x: 82.5%
20x: 75.5%

Validation Efficiency

94% (92/98)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,101,482	I299T	probably benign	Het
Ankrd12	A	G	17: 65,984,803	S1212P	probably damaging	Het
Ankrd50	A	G	3: 38,483,049	S52P	probably benign	Het
Aox1	A	G	1: 58,073,212	E715G	probably damaging	Het
Arid1b	T	C	17: 5,314,034		probably null	Het
Brca1	A	G	11: 101,524,977	V777A	possibly damaging	Het
Btaf1	G	T	19: 37,003,524	A1582S	probably benign	Het
Ccdc184	G	A	15: 98,168,460	A49T	probably damaging	Het
Cd109	A	C	9: 78,680,021	Y657S	possibly damaging	Het
Cfap53	A	T	18: 74,299,173	Y44F	probably benign	Het
Cped1	T	A	6: 22,119,602	N353K	probably benign	Het
Dcaf10	T	G	4: 45,374,262	Y562*	probably null	Het
Eno4	T	C	19: 58,964,538	M328T	possibly damaging	Het
Etv3l	T	C	3: 87,554,968		noncoding transcript	Het
Eya2	T	A	2: 165,716,011	Y176N	probably damaging	Het
Fat2	G	T	11: 55,310,039	H736Q	probably benign	Het
Fgfr2	A	T	7: 130,180,488		probably benign	Het
Gif	G	A	19: 11,749,756	V110M	possibly damaging	Het
Grhl1	A	T	12: 24,612,151		probably benign	Het
H60b	T	A	10: 22,287,231	M235K	probably benign	Het
Hal	T	A	10: 93,498,991	Y395N	probably damaging	Het
Hmcn2	T	C	2: 31,428,237	S3865P	possibly damaging	Het
Inpp5j	A	G	11: 3,501,417	V463A	probably damaging	Het
Iqgap3	A	T	3: 88,115,949	T516S	probably benign	Het
Itpr2	T	C	6: 146,232,291		probably null	Het
Jmjd4	C	A	11: 59,453,952	H244N	probably benign	Het
Klkb1	G	A	8: 45,289,196		probably benign	Het
Loxhd1	A	T	18: 77,408,778	Y1578F	probably damaging	Het
Lrp2	A	T	2: 69,465,627	D3379E	probably damaging	Het
Lrrfip1	C	T	1: 91,093,647		probably benign	Het
Mblac1	A	G	5: 138,194,465	Y23C	probably damaging	Het
Mfsd12	G	A	10: 81,362,814	V380I	possibly damaging	Het
Mroh9	G	A	1: 163,062,487	T227M	probably damaging	Het
Mtor	C	T	4: 148,538,881	Q2063*	probably null	Het
Ncstn	A	G	1: 172,069,961		probably benign	Het
Nek9	T	C	12: 85,301,899	T954A	probably benign	Het
Nlrc5	A	T	8: 94,474,656	Y126F	possibly damaging	Het
Nr1d1	A	G	11: 98,770,478	S321P	probably benign	Het
Olfr273	C	A	4: 52,856,196	A106S	probably damaging	Het
Pkn2	T	C	3: 142,810,827	I513V	probably damaging	Het
Pls1	T	C	9: 95,787,063	E35G	probably damaging	Het
Polr3a	A	G	14: 24,469,255		probably benign	Het
Ptgfr	A	G	3: 151,835,091	V260A	possibly damaging	Het
Rabgap1l	A	G	1: 160,627,369		probably benign	Het
Rbm27	A	G	18: 42,298,464	D112G	probably benign	Het
Rbm46	A	T	3: 82,864,230	S359R	probably damaging	Het
Rhobtb3	A	T	13: 75,902,245	*100R	probably null	Het
Ryr2	T	C	13: 11,595,784	E4052G	probably damaging	Het
Sart3	G	T	5: 113,755,397	D346E	possibly damaging	Het
Sgsm1	A	G	5: 113,268,750	F629S	probably damaging	Het
Siglec1	T	C	2: 131,073,397	T1425A	possibly damaging	Het
Slc12a2	A	T	18: 57,915,522		probably benign	Het
Slc38a10	G	T	11: 120,110,312	P561T	probably benign	Het
Slc45a4	A	G	15: 73,605,436		probably benign	Het
Snx25	A	T	8: 46,105,109		probably benign	Het
Son	T	A	16: 91,658,977	H1537Q	possibly damaging	Het
Synpo2l	A	T	14: 20,666,272		probably benign	Het
Tarbp1	A	G	8: 126,447,530	Y846H	probably damaging	Het
Tgfb1	T	A	7: 25,694,354		probably benign	Het
Tigd2	C	A	6: 59,211,384	T412K	possibly damaging	Het
Umodl1	A	T	17: 30,968,477	N172Y	probably damaging	Het
Urah	C	T	7: 140,836,752	T46I	probably damaging	Het
Usp8	C	T	2: 126,737,889	P353L	probably damaging	Het
Vamp2	A	G	11: 69,089,759	D51G	possibly damaging	Het
Vps13a	A	T	19: 16,676,140	V1959E	probably damaging	Het
Wdr76	C	T	2: 121,535,419		probably benign	Het
Zbtb38	C	T	9: 96,687,676	V452M	probably damaging	Het
Zbtb41	A	G	1: 139,441,834	K650E	probably damaging	Het
Zfp532	A	G	18: 65,644,333	Y887C	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
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

2013-01-08