Mutagenetix > Incidental Mutation

Incidental Mutation 'R0387:Raph1'

65512

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

038593-MU

Accession Numbers

Essential gene?

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

Stock #

R0387 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

60521451-60606263 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to G at 60549655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121023 (fasta)

Gene Model

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

AlphaFold

F2Z3U3

Predicted Effect

probably benign
Transcript: ENSMUST00000027168

SMART Domains

Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014

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

SMART Domains

Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014

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

noncoding transcript
Transcript: ENSMUST00000127573

SMART Domains

Protein: ENSMUSP00000114596
Gene: ENSMUSG00000026014

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

probably benign
Transcript: ENSMUST00000140485

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014

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

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,932,075 (GRCm39)		probably null	Het
Abcc9	T	A	6: 142,585,230 (GRCm39)	K825*	probably null	Het
Afp	T	C	5: 90,645,150 (GRCm39)	C189R	probably damaging	Het
Akap9	T	C	5: 4,001,678 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,753,975 (GRCm39)	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,714,278 (GRCm39)	Q354K	probably benign	Het
Atxn2	T	C	5: 121,940,206 (GRCm39)	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,071,714 (GRCm39)		probably benign	Het
Cacna2d2	C	A	9: 107,391,080 (GRCm39)	T403K	probably damaging	Het
Cap2	C	T	13: 46,713,992 (GRCm39)	H79Y	probably damaging	Het
Car10	G	T	11: 93,473,847 (GRCm39)		probably null	Het
Ccno	T	C	13: 113,126,401 (GRCm39)	L290P	probably damaging	Het
Cfap69	T	C	5: 5,639,303 (GRCm39)	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,421,909 (GRCm39)	M568V	probably benign	Het
Cyp1b1	C	A	17: 80,021,203 (GRCm39)	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,089,201 (GRCm39)		probably null	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnm1	C	T	2: 32,210,593 (GRCm39)	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,829,509 (GRCm39)	L698P	probably damaging	Het
Dock10	C	A	1: 80,517,993 (GRCm39)	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,683,363 (GRCm39)		noncoding transcript	Het
Dpyd	G	A	3: 119,220,875 (GRCm39)	D949N	probably benign	Het
Dync2li1	A	G	17: 84,962,768 (GRCm39)	K345E	possibly damaging	Het
Eml2	T	A	7: 18,916,184 (GRCm39)		probably null	Het
Exoc7	A	G	11: 116,185,227 (GRCm39)		probably benign	Het
Faah	A	T	4: 115,862,889 (GRCm39)	C113*	probably null	Het
Fcf1	T	A	12: 85,019,776 (GRCm39)	D16E	probably benign	Het
Fcgbp	T	C	7: 27,790,879 (GRCm39)		probably benign	Het
Ghr	A	G	15: 3,349,373 (GRCm39)	S602P	probably benign	Het
Gm5114	T	C	7: 39,058,233 (GRCm39)	D462G	probably benign	Het
Gm8186	T	A	17: 26,318,000 (GRCm39)	S66C	probably damaging	Het
Gorab	C	T	1: 163,224,403 (GRCm39)	V133M	probably benign	Het
Gria1	G	A	11: 57,200,710 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,831,238 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,280,276 (GRCm39)	L378P	probably damaging	Het
Htr5b	A	T	1: 121,455,275 (GRCm39)	V215D	probably damaging	Het
Htra1	A	G	7: 130,581,208 (GRCm39)	T319A	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,586,697 (GRCm39)	H189Q	possibly damaging	Het
Lhfpl6	A	G	3: 52,950,749 (GRCm39)	T8A	probably benign	Het
Ly75	T	A	2: 60,136,748 (GRCm39)	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,189,531 (GRCm39)	I301T	possibly damaging	Het
Mlkl	C	T	8: 112,059,982 (GRCm39)	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,148,908 (GRCm39)	M1R	probably null	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Mtbp	A	G	15: 55,474,425 (GRCm39)	I280V	possibly damaging	Het
Myo5c	A	T	9: 75,192,303 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,572,583 (GRCm39)	K174R	probably damaging	Het
Oas2	A	T	5: 120,883,737 (GRCm39)		probably benign	Het
Or8b40	T	A	9: 38,027,066 (GRCm39)		probably null	Het
Pi4kb	G	C	3: 94,892,051 (GRCm39)	E256Q	probably benign	Het
Pik3c2a	T	A	7: 115,972,979 (GRCm39)	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,262,945 (GRCm39)	K1031N	probably benign	Het
Plk4	A	T	3: 40,767,319 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,849,792 (GRCm39)	C349R	probably damaging	Het
Polq	G	T	16: 36,909,679 (GRCm39)	E2354D	probably damaging	Het
Prss22	A	G	17: 24,212,903 (GRCm39)	L278P	probably damaging	Het
Prss3l	A	G	6: 41,420,303 (GRCm39)	I141T	possibly damaging	Het
Ptprk	G	A	10: 28,230,625 (GRCm39)	V239I	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor3	C	T	2: 167,825,692 (GRCm39)	W755*	probably null	Het
Rnd3	G	T	2: 51,038,243 (GRCm39)	D77E	probably damaging	Het
Ryr1	T	C	7: 28,782,792 (GRCm39)		probably benign	Het
Serpinb1a	C	T	13: 33,032,721 (GRCm39)	V63I	probably benign	Het
Six1	T	G	12: 73,092,815 (GRCm39)	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,851,315 (GRCm39)	T271I	probably damaging	Het
Stab1	T	C	14: 30,870,058 (GRCm39)	D1387G	probably benign	Het
Stra6	T	A	9: 58,060,466 (GRCm39)	M625K	probably benign	Het
Syne1	T	C	10: 5,301,029 (GRCm39)	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,704,007 (GRCm39)	K101N	probably benign	Het
Tigd2	T	C	6: 59,188,143 (GRCm39)	Y337H	probably benign	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,687,081 (GRCm39)	I288T	probably damaging	Het
Ulk1	A	G	5: 110,936,663 (GRCm39)	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,776,194 (GRCm39)	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,949,066 (GRCm39)	M12L	probably benign	Het
Zfp106	T	C	2: 120,358,953 (GRCm39)		probably null	Het
Zfp74	T	A	7: 29,634,179 (GRCm39)	T510S	probably benign	Het
Zfp808	A	G	13: 62,317,292 (GRCm39)	T14A	probably damaging	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
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
R5027:Raph1	UTSW	1	60,535,436 (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'- GCAACACACTTGGAGTACAAGGCG -3'
(R):5'- ACCTGGAACATATCTGTGGGCAGAG -3'

Sequencing Primer
(F):5'- GATTAAGAAGACAGTTACTTGCAGC -3'
(R):5'- ACCTCCTCTTCAGTTGTTGGTG -3'

Posted On

2013-08-08