Mutagenetix > Incidental Mutation

Incidental Mutation 'R9381:Raph1'

709986

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: 0.136) question?

Stock #

R9381 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60501800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 351 (F351L)

Ref Sequence

ENSEMBL: ENSMUSP00000121023 (fasta)

Gene Model

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

AlphaFold

F2Z3U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000027168
AA Change: F403L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: F403L

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: F403L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: F403L

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: F351L

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: F351L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
9930111J21Rik1	T	A	11: 48,948,377	K461M	probably damaging	Het
Abhd16b	A	G	2: 181,494,088	Y261C	probably damaging	Het
Acadl	T	C	1: 66,854,646	T117A	probably benign	Het
Adamts15	A	G	9: 30,902,520	V783A	probably damaging	Het
Aff1	A	T	5: 103,833,867	Q624L	possibly damaging	Het
Afg3l2	T	G	18: 67,442,381	E74A	probably damaging	Het
Aig1	T	C	10: 13,647,673	E238G	probably benign	Het
Ankrd17	C	T	5: 90,268,649	R1108Q	probably damaging	Het
Anks1	A	T	17: 28,054,005	Y958F	probably damaging	Het
Arhgef28	C	A	13: 97,899,761	Q1663H	possibly damaging	Het
Asb3	T	C	11: 31,101,088	L475P	probably damaging	Het
Atg9a	T	A	1: 75,186,082	M430L	probably benign	Het
Bco1	T	A	8: 117,110,892	V164E	probably benign	Het
Bhlhe40	T	C	6: 108,665,283	L396P	probably damaging	Het
C5ar2	A	T	7: 16,236,962	S347T	probably damaging	Het
Cdc42bpa	T	C	1: 180,141,483	S1212P	probably damaging	Het
Ceacam3	C	G	7: 17,159,790	Q409E		Het
Ces3b	T	C	8: 105,085,038	V62A	probably benign	Het
Dalrd3	A	G	9: 108,571,043		probably null	Het
Ddhd2	G	T	8: 25,749,822	A288E	probably benign	Het
Dnah17	T	A	11: 118,023,393	M4435L	probably benign	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
E030025P04Rik	A	G	11: 109,139,558	Y168H	unknown	Het
Elavl2	T	C	4: 91,308,772	N23S	probably benign	Het
Elfn1	T	C	5: 139,973,707	V822A	probably damaging	Het
Emb	G	T	13: 117,220,560		probably benign	Het
Exoc5	C	T	14: 49,037,737	S202N	probably benign	Het
Fryl	T	C	5: 73,083,294	D1321G	probably benign	Het
Gm12258	C	T	11: 58,859,181	T394I	unknown	Het
Gm28363	T	A	1: 117,726,885	S85T	probably damaging	Het
Gm5724	T	C	6: 141,765,764	I74V	probably benign	Het
H2-Q1	A	G	17: 35,323,162	T237A	probably damaging	Het
Hectd4	A	T	5: 121,334,429	I2743F	possibly damaging	Het
Hs3st3b1	C	T	11: 63,921,866	G8S	probably benign	Het
Ighv1-16	T	C	12: 114,665,978	N63S	probably benign	Het
Il20rb	A	G	9: 100,461,488	F238L	possibly damaging	Het
Il31ra	A	T	13: 112,531,719	F439I	possibly damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Kat2a	T	C	11: 100,711,866	Q132R	possibly damaging	Het
Kcnq2	A	G	2: 181,109,769	I278T	probably damaging	Het
Lama1	T	C	17: 67,737,484	V126A		Het
Lama2	T	A	10: 27,188,027	R1285*	probably null	Het
Larp1	A	G	11: 58,058,706	T1054A	probably benign	Het
Lrp1	A	T	10: 127,605,468	M262K	probably benign	Het
Lrrd1	A	G	5: 3,851,074	I460V	probably benign	Het
Ltbp1	A	T	17: 75,389,439	N1606I	probably damaging	Het
Mdga2	T	C	12: 66,550,530	N730S	possibly damaging	Het
Mpzl1	T	C	1: 165,601,754	H236R	probably damaging	Het
Mrps31	G	A	8: 22,414,736	R47K	probably damaging	Het
Nae1	A	T	8: 104,523,607	I218K	probably benign	Het
Npy2r	T	C	3: 82,541,049	T140A	probably damaging	Het
Nr2e1	T	A	10: 42,563,472	L350F	probably damaging	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Olfr1489	G	T	19: 13,633,283	M57I	probably damaging	Het
Olfr469	A	C	7: 107,822,605	L288W	probably damaging	Het
Olfr557	A	T	7: 102,698,447	M70L	probably damaging	Het
Pabpc1l	G	T	2: 164,025,503	C8F	probably benign	Het
Pafah1b3	A	C	7: 25,295,274	F172V	probably benign	Het
Pcdhga6	A	T	18: 37,708,318	T364S	probably damaging	Het
Ppp3cc	T	A	14: 70,224,992	M399L	probably benign	Het
Prpsap2	T	C	11: 61,744,956	I173V	probably benign	Het
Rabggtb	A	T	3: 153,908,180	W252R	probably damaging	Het
Rasd2	T	C	8: 75,221,961	S172P	probably damaging	Het
Rbm15	T	C	3: 107,331,436	T549A	probably benign	Het
Reln	A	G	5: 22,344,204	Y69H	possibly damaging	Het
Samd3	T	A	10: 26,271,745	N439K	probably benign	Het
Scap	C	A	9: 110,378,771	A516D	probably damaging	Het
Selplg	T	C	5: 113,819,856	T130A	probably benign	Het
Slc12a7	A	G	13: 73,800,944	M697V	probably benign	Het
Slc22a29	A	G	19: 8,218,477	I66T	probably benign	Het
Snrnp48	A	C	13: 38,220,691	I241L	probably damaging	Het
Sptb	C	T	12: 76,587,518	E2140K	probably benign	Het
Strip2	T	C	6: 29,927,334	S192P	probably benign	Het
Svil	A	T	18: 5,099,013	R1643S	probably benign	Het
Tbc1d2b	A	G	9: 90,219,086	V617A	possibly damaging	Het
Tmem102	T	C	11: 69,804,315	E277G	probably benign	Het
Tmtc4	T	G	14: 122,926,029	I648L	probably benign	Het
Togaram1	T	C	12: 64,967,430	V485A	probably damaging	Het
Trim43b	T	C	9: 89,087,589	I269V	probably benign	Het
Trpm2	T	A	10: 77,911,357	I1436F	possibly damaging	Het
Ube2d3	A	T	3: 135,462,961	I106F	possibly damaging	Het
Vdr	G	A	15: 97,857,452	R397C	probably damaging	Het
Vps50	T	C	6: 3,592,433	S689P	probably benign	Het
Wipf2	A	G	11: 98,896,242	T366A	probably damaging	Het
Zfp128	T	C	7: 12,890,970	Y422H	possibly damaging	Het
Zfyve28	G	A	5: 34,216,588	T694I	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
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'- ACCAAAGTTTACTCCCATGTGG -3'
(R):5'- CGTATGTTCTGTACTACTTCATGTG -3'

Sequencing Primer
(F):5'- CATGTGGGGCTGGGAAC -3'
(R):5'- GACAATATCAGTCGTCAACCTCTG -3'

Posted On

2022-04-18