Mutagenetix > Incidental Mutation

Incidental Mutation 'R9036:Raph1'

687353

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 #

R9036 (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 60502965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 278 (M278T)

Ref Sequence

ENSEMBL: ENSMUSP00000121023 (fasta)

Gene Model

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

AlphaFold

F2Z3U3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027168
AA Change: M330T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: M330T

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

possibly damaging
Transcript: ENSMUST00000090293
AA Change: M330T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: M330T

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: M278T

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: M278T

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	T	15: 8,223,138	T1948I	possibly damaging	Het
Acsl6	G	T	11: 54,337,014		probably null	Het
Anapc5	A	G	5: 122,819,653	L69P	possibly damaging	Het
Arfgef1	A	T	1: 10,188,830	S681T	probably benign	Het
Arhgef19	A	G	4: 141,249,238	D437G	probably damaging	Het
Arhgef25	A	G	10: 127,183,220	V576A	probably benign	Het
Arl5b	T	C	2: 15,068,201		probably null	Het
Atg10	T	A	13: 91,040,952	T80S	probably benign	Het
BC034090	A	G	1: 155,241,673	V233A	possibly damaging	Het
Bicdl2	C	T	17: 23,668,184	R482C	probably damaging	Het
Ccdc63	G	A	5: 122,109,283	P500S	probably benign	Het
Ccng1	A	T	11: 40,752,251	I123K	possibly damaging	Het
Ccp110	C	T	7: 118,725,457	S734F	probably damaging	Het
Cds2	T	C	2: 132,297,694		probably null	Het
Cenpw	G	A	10: 30,198,527	T58I	probably benign	Het
Cfap61	T	A	2: 146,008,919	L326I	probably benign	Het
Cgn	T	A	3: 94,767,241	Q862L	possibly damaging	Het
Cntrl	T	A	2: 35,126,059	D362E	probably damaging	Het
Col22a1	C	T	15: 71,890,582	G76E	probably damaging	Het
Crip2	A	G	12: 113,144,410	T140A	probably benign	Het
Csde1	T	C	3: 103,043,660	V229A	probably damaging	Het
Ctgf	A	T	10: 24,596,749	T186S	probably benign	Het
Cyp2d34	A	G	15: 82,616,322	F439L	probably damaging	Het
Dync1h1	A	G	12: 110,639,752	T2419A	probably benign	Het
Dync2h1	A	T	9: 7,051,495	F3147I	probably damaging	Het
Dynlt1f	T	C	17: 6,649,308	T101A	probably benign	Het
Efcab8	G	A	2: 153,780,968	S19N		Het
Eno2	A	T	6: 124,763,128	I315K	possibly damaging	Het
Erich3	A	G	3: 154,763,249	T1113A	unknown	Het
Fam217a	A	T	13: 34,911,024	Y251N	possibly damaging	Het
Fcrlb	A	T	1: 170,907,369	H396Q	probably benign	Het
Fgd5	A	T	6: 92,069,466	K1397*	probably null	Het
Frem1	C	A	4: 82,913,548	L2010F	probably benign	Het
Fuk	A	G	8: 110,887,432	V693A	probably benign	Het
Fzd8	A	G	18: 9,214,661	Y581C	probably damaging	Het
Gcc2	T	C	10: 58,270,589	V549A	possibly damaging	Het
Gcnt4	G	A	13: 96,946,534	V113I	probably benign	Het
Gldn	A	G	9: 54,338,463	I433V	probably benign	Het
Gm11639	A	G	11: 105,036,775	H4790R	probably benign	Het
Gm3336	A	G	8: 70,720,420	D27G	unknown	Het
Gm6133	T	A	18: 78,349,931	Y47N	probably damaging	Het
Gm8257	A	T	14: 44,656,420	N62K	probably benign	Het
Gm9833	C	A	3: 10,092,281	Q495K	unknown	Het
Gpr18	T	G	14: 121,912,255	R119S	probably damaging	Het
Grm5	A	T	7: 88,036,189	I505F	possibly damaging	Het
Hdgfl1	T	C	13: 26,769,445	E215G	probably benign	Het
Heg1	T	A	16: 33,706,969	C100S	probably benign	Het
Isg20l2	T	C	3: 87,931,995	V171A	probably benign	Het
Lrrc49	A	T	9: 60,587,867	C694S	probably benign	Het
Map7d1	A	T	4: 126,240,118	I217N	probably damaging	Het
Mbnl2	A	T	14: 120,325,300	Q21L	probably benign	Het
Mfsd10	A	T	5: 34,635,407	F220Y	probably benign	Het
Mmp1b	A	C	9: 7,387,909	N28K	probably null	Het
Muc16	A	T	9: 18,644,679	N3439K	unknown	Het
Myo9a	A	T	9: 59,780,301	K230*	probably null	Het
Mysm1	T	C	4: 94,947,057	T790A	probably benign	Het
Nell2	C	T	15: 95,296,236	C532Y	probably damaging	Het
Nmnat1	T	A	4: 149,469,025	N210I	probably damaging	Het
Olfr128	T	G	17: 37,924,277	V237G	probably benign	Het
Olfr1287	T	C	2: 111,449,998	I286T	probably damaging	Het
Olfr171	A	T	16: 19,624,545	L185*	probably null	Het
Olfr828	G	A	9: 18,816,273	T7I	probably damaging	Het
Pabpc6	T	C	17: 9,669,352	D90G	probably damaging	Het
Pacs2	A	T	12: 113,062,484	I554F	possibly damaging	Het
Padi3	C	A	4: 140,795,693	V323L	probably benign	Het
Piezo1	G	A	8: 122,488,351	P1484L		Het
Pogk	A	G	1: 166,399,685	I299T	possibly damaging	Het
Ptprk	A	G	10: 28,585,932	I1164V	probably benign	Het
Rasa3	T	A	8: 13,595,851	Q163L	probably benign	Het
Rbm6	T	A	9: 107,783,712	K884I	probably damaging	Het
Rtl1	A	G	12: 109,593,257	V716A	probably benign	Het
Sag	A	G	1: 87,821,332	K151R	probably damaging	Het
Scara5	G	A	14: 65,762,748	V456M	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Slc4a1	A	T	11: 102,352,453	V784D	probably damaging	Het
Sstr1	T	C	12: 58,212,783	I64T	possibly damaging	Het
Steap1	A	G	5: 5,740,708	I80T	probably benign	Het
Svs1	CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC	CCTAAATTTCC	6: 48,988,140		probably benign	Het
Tbc1d24	T	A	17: 24,208,517	D157V	probably benign	Het
Thsd7a	T	C	6: 12,418,250	E660G		Het
Trappc3l	A	G	10: 34,056,790		probably benign	Het
Tsc22d2	T	C	3: 58,416,076	S130P	probably benign	Het
Tti2	T	A	8: 31,155,786	I376N	probably damaging	Het
Ttll2	C	A	17: 7,351,655	W291L	probably benign	Het
Ttll3	G	A	6: 113,399,696	V345I	possibly damaging	Het
Ttn	A	G	2: 76,734,702	Y28394H	probably damaging	Het
Usp45	A	G	4: 21,832,201	Y684C	probably damaging	Het
Vdr	A	G	15: 97,867,208	S217P	probably benign	Het
Xpot	A	G	10: 121,611,675	L105P	probably damaging	Het
Zan	A	G	5: 137,465,944	I533T	probably damaging	Het
Zbtb8a	T	C	4: 129,354,266	E404G	probably benign	Het
Zfp106	T	A	2: 120,539,425	I62F	probably damaging	Het
Zfp451	A	T	1: 33,776,481	F796Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGAAGGTTCAGGGTTACACAGATG -3'
(R):5'- AGGGCTTAAAACTTACTTAGGTAGG -3'

Sequencing Primer
(F):5'- TCAGGGTTACACAGATGCTGATAAAC -3'
(R):5'- GTAGTAGTGTCAGAGTAGTCA -3'

Posted On

2021-11-19