Mutagenetix > Incidental Mutation

Incidental Mutation 'RF018:Raph1'

603647

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

Accession Numbers

Essential gene?

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

Stock #

RF018 (G1)

Quality Score

199.458

Status

Not validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

GG to GGGGG at 60489267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188511

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

100% (54/54)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGCTGCT	GTGGCTGCTTTGGCTGCT	1: 82,913,572		probably benign	Het
Abca15	T	A	7: 120,394,460	V1301E	possibly damaging	Het
Adcy10	T	A	1: 165,552,109	V980E	probably damaging	Het
Aldh1a2	T	C	9: 71,285,270	V469A	probably damaging	Het
Alk	T	A	17: 71,949,813	T684S	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,912		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,512,926		probably null	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
C130060K24Rik	T	A	6: 65,456,190	Y331*	probably null	Het
Ccdc81	C	A	7: 89,866,698		probably null	Het
Cd209g	A	G	8: 4,137,398	Y194C	probably benign	Het
Cenpc1	A	T	5: 86,045,369	S220R	possibly damaging	Het
Ddx42	A	T	11: 106,232,804		probably null	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,844,399		probably null	Het
Eif5b	A	T	1: 38,021,592		probably null	Het
Ell2	C	A	13: 75,763,608	H338N	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACGCACTCCTGGTGT	17: 23,762,166		probably null	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,511,742		probably null	Het
Gnat2	T	C	3: 108,096,329	S107P	unknown	Het
Guk1	T	A	11: 59,186,408	D70V	probably benign	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCC	ACCACAGCCACAGCCCCCACAGCCACAGCCACCACAGCCACAGCC	1: 83,042,253		probably benign	Het
Lamp3	A	C	16: 19,701,250	I61R	probably benign	Het
Lrch1	GCTGGTGGTGT	G	14: 74,947,555		probably null	Het
Lrp1b	C	T	2: 41,110,907	E2216K		Het
Lrrc27	A	G	7: 139,226,100	D227G	probably benign	Het
Lrrk1	C	T	7: 66,381,502	G16E	possibly damaging	Het
Lrrtm1	T	A	6: 77,244,351	S264T	possibly damaging	Het
Lypd8	CCAATCACCAACA	CCAATCACCAACAGTTTCCTCGCCTCTGTTACCCCACCAATCACCAACA	11: 58,390,232		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,849		probably benign	Het
Mpo	G	C	11: 87,797,639	A375P	probably damaging	Het
Myo9a	A	G	9: 59,869,586	H1089R	probably benign	Het
Ndufc2	T	C	7: 97,407,021	*109Q	probably null	Het
Nudt16	A	T	9: 105,131,699	Y28N	probably damaging	Het
Nudt4	A	T	10: 95,549,813		probably null	Het
Nusap1	AGATACACGTTAGCAGTGAGGAGCAAGCTG	AGATACACGTTAGCAGTGAGGAGCAAGCTGCGATACACGTTAGCAGTGAGGAGCAAGCTG	2: 119,627,578		probably benign	Het
Olfr697	T	A	7: 106,741,485	I150F	probably benign	Het
P2ry12	T	A	3: 59,217,412	T281S	probably benign	Het
P4ha2	TGTTGG	T	11: 54,110,246		probably null	Het
Pcnx2	A	G	8: 125,877,519	V666A	probably damaging	Het
Pde6a	T	A	18: 61,231,403	I177N	possibly damaging	Het
Pgm2	A	T	4: 99,962,303		probably null	Het
Plce1	T	A	19: 38,717,207	W1019R	probably damaging	Het
Plch1	C	A	3: 63,721,215	K542N	probably damaging	Het
Plekhj1	T	C	10: 80,796,637	Q113R	not run	Het
Postn	A	T	3: 54,384,492	I705F	probably damaging	Het
Ppp1r15b	G	T	1: 133,131,614		probably benign	Het
Prkab1	T	C	5: 116,021,630	E59G	probably damaging	Het
Rassf6	AGCAATGGGGATTC	AGCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGATTC	5: 90,608,929		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCTCACTC	12: 26,314,014		probably benign	Het
Ros1	T	A	10: 52,155,121	M484L	probably benign	Het
Rpa1	GCTGCTGCC	GC	11: 75,318,517		probably null	Het
Sectm1b	A	G	11: 121,054,930	V195A	probably benign	Het
Sirpa	TCATCAG	T	2: 129,609,203		probably null	Het
Slc28a1	T	A	7: 81,169,284		probably null	Het
Sphk1	G	C	11: 116,534,945	S42T	possibly damaging	Het
Spta1	T	C	1: 174,209,319	L1132P	probably damaging	Het
Srrt	A	T	5: 137,300,000	N303K	probably benign	Het
Ssh2	A	G	11: 77,454,054	E955G	probably damaging	Het
Strn	CCAGTC	CCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCACAGTC	17: 78,677,283		probably null	Het
Tchhl1	T	C	3: 93,470,384	F132L	probably benign	Het
Tex14	A	G	11: 87,514,746	E828G	probably benign	Het
Tfeb	CAG	CAGGAG	17: 47,786,095		probably benign	Het
Tmem28	CGCCGC	CGCCGCTGCCGC	X: 99,821,361		probably benign	Het
Tmtc1	T	C	6: 148,247,511	Y699C	probably damaging	Het
Ubn1	A	G	16: 5,064,392	Y239C	probably damaging	Het
Vmn2r23	T	G	6: 123,713,116	L317R	probably benign	Het
Vmn2r78	C	T	7: 86,954,431	R606*	probably null	Het
Vps72	T	G	3: 95,121,408		probably null	Het
Zc3h11a	A	G	1: 133,627,115	S376P	possibly damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGTCCCAGGC	6: 125,036,489		probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,680,771		probably benign	Het
Zfp628	TACTCCTCCACCC	T	7: 4,920,949		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
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
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
RF022:Raph1	UTSW	1	60489267	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTAGACTGTCTACCGAGGG -3'
(R):5'- TGGACTCTCAGCCCCTAAAG -3'

Sequencing Primer
(F):5'- TCTACCGAGGGTCGCTTG -3'
(R):5'- TAAAGTCCCTGCCAGCAAGTG -3'

Posted On

2019-12-04