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, lamellipodin, 9430025M21Rik, Lpd

MMRRC Submission

068865-MU

Accession Numbers

Essential gene?

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

Stock #

R9036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60521451-60606263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60542124 bp (GRCm39)

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
Acsl6	G	T	11: 54,227,840 (GRCm39)		probably null	Het
Anapc5	A	G	5: 122,957,716 (GRCm39)	L69P	possibly damaging	Het
Aoc1l3	CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC	CCTAAATTTCC	6: 48,965,074 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,259,055 (GRCm39)	S681T	probably benign	Het
Arhgef19	A	G	4: 140,976,549 (GRCm39)	D437G	probably damaging	Het
Arhgef25	A	G	10: 127,019,089 (GRCm39)	V576A	probably benign	Het
Arl5b	T	C	2: 15,073,012 (GRCm39)		probably null	Het
Atg10	T	A	13: 91,189,071 (GRCm39)	T80S	probably benign	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Bicdl2	C	T	17: 23,887,158 (GRCm39)	R482C	probably damaging	Het
Ccdc63	G	A	5: 122,247,346 (GRCm39)	P500S	probably benign	Het
Ccn2	A	T	10: 24,472,647 (GRCm39)	T186S	probably benign	Het
Ccng1	A	T	11: 40,643,078 (GRCm39)	I123K	possibly damaging	Het
Ccp110	C	T	7: 118,324,680 (GRCm39)	S734F	probably damaging	Het
Cds2	T	C	2: 132,139,614 (GRCm39)		probably null	Het
Cenpw	G	A	10: 30,074,523 (GRCm39)	T58I	probably benign	Het
Cfap61	T	A	2: 145,850,839 (GRCm39)	L326I	probably benign	Het
Cgn	T	A	3: 94,674,551 (GRCm39)	Q862L	possibly damaging	Het
Cntrl	T	A	2: 35,016,071 (GRCm39)	D362E	probably damaging	Het
Col22a1	C	T	15: 71,762,431 (GRCm39)	G76E	probably damaging	Het
Cplane1	C	T	15: 8,252,622 (GRCm39)	T1948I	possibly damaging	Het
Crip2	A	G	12: 113,108,030 (GRCm39)	T140A	probably benign	Het
Csde1	T	C	3: 102,950,976 (GRCm39)	V229A	probably damaging	Het
Cyp2d34	A	G	15: 82,500,523 (GRCm39)	F439L	probably damaging	Het
Dync1h1	A	G	12: 110,606,186 (GRCm39)	T2419A	probably benign	Het
Dync2h1	A	T	9: 7,051,495 (GRCm39)	F3147I	probably damaging	Het
Dynlt1f	T	C	17: 6,916,707 (GRCm39)	T101A	probably benign	Het
Efcab3	A	G	11: 104,927,601 (GRCm39)	H4790R	probably benign	Het
Efcab8	G	A	2: 153,622,888 (GRCm39)	S19N		Het
Eno2	A	T	6: 124,740,091 (GRCm39)	I315K	possibly damaging	Het
Erich3	A	G	3: 154,468,886 (GRCm39)	T1113A	unknown	Het
Fam217a	A	T	13: 35,095,007 (GRCm39)	Y251N	possibly damaging	Het
Fcrlb	A	T	1: 170,734,938 (GRCm39)	H396Q	probably benign	Het
Fcsk	A	G	8: 111,614,064 (GRCm39)	V693A	probably benign	Het
Fgd5	A	T	6: 92,046,447 (GRCm39)	K1397*	probably null	Het
Frem1	C	A	4: 82,831,785 (GRCm39)	L2010F	probably benign	Het
Fzd8	A	G	18: 9,214,661 (GRCm39)	Y581C	probably damaging	Het
Gcc2	T	C	10: 58,106,411 (GRCm39)	V549A	possibly damaging	Het
Gcnt4	G	A	13: 97,083,042 (GRCm39)	V113I	probably benign	Het
Gldn	A	G	9: 54,245,747 (GRCm39)	I433V	probably benign	Het
Gm3336	A	G	8: 71,173,069 (GRCm39)	D27G	unknown	Het
Gm6133	T	A	18: 78,393,146 (GRCm39)	Y47N	probably damaging	Het
Gm8257	A	T	14: 44,893,877 (GRCm39)	N62K	probably benign	Het
Gpr18	T	G	14: 122,149,667 (GRCm39)	R119S	probably damaging	Het
Grm5	A	T	7: 87,685,397 (GRCm39)	I505F	possibly damaging	Het
Hdgfl1	T	C	13: 26,953,428 (GRCm39)	E215G	probably benign	Het
Heg1	T	A	16: 33,527,339 (GRCm39)	C100S	probably benign	Het
Isg20l2	T	C	3: 87,839,302 (GRCm39)	V171A	probably benign	Het
Lrrc49	A	T	9: 60,495,150 (GRCm39)	C694S	probably benign	Het
Map7d1	A	T	4: 126,133,911 (GRCm39)	I217N	probably damaging	Het
Mbnl2	A	T	14: 120,562,712 (GRCm39)	Q21L	probably benign	Het
Mfsd10	A	T	5: 34,792,751 (GRCm39)	F220Y	probably benign	Het
Mmp1b	A	C	9: 7,387,909 (GRCm39)	N28K	probably null	Het
Muc16	A	T	9: 18,555,975 (GRCm39)	N3439K	unknown	Het
Myef2l	C	A	3: 10,157,341 (GRCm39)	Q495K	unknown	Het
Myo9a	A	T	9: 59,687,584 (GRCm39)	K230*	probably null	Het
Mysm1	T	C	4: 94,835,294 (GRCm39)	T790A	probably benign	Het
Nell2	C	T	15: 95,194,117 (GRCm39)	C532Y	probably damaging	Het
Nmnat1	T	A	4: 149,553,482 (GRCm39)	N210I	probably damaging	Het
Or14j7	T	G	17: 38,235,168 (GRCm39)	V237G	probably benign	Het
Or2aj6	A	T	16: 19,443,295 (GRCm39)	L185*	probably null	Het
Or4k41	T	C	2: 111,280,343 (GRCm39)	I286T	probably damaging	Het
Or7g16	G	A	9: 18,727,569 (GRCm39)	T7I	probably damaging	Het
Pabpc6	T	C	17: 9,888,281 (GRCm39)	D90G	probably damaging	Het
Pacs2	A	T	12: 113,026,104 (GRCm39)	I554F	possibly damaging	Het
Padi3	C	A	4: 140,523,004 (GRCm39)	V323L	probably benign	Het
Piezo1	G	A	8: 123,215,090 (GRCm39)	P1484L		Het
Pogk	A	G	1: 166,227,254 (GRCm39)	I299T	possibly damaging	Het
Ptprk	A	G	10: 28,461,928 (GRCm39)	I1164V	probably benign	Het
Rasa3	T	A	8: 13,645,851 (GRCm39)	Q163L	probably benign	Het
Rbm6	T	A	9: 107,660,911 (GRCm39)	K884I	probably damaging	Het
Rtl1	A	G	12: 109,559,691 (GRCm39)	V716A	probably benign	Het
Sag	A	G	1: 87,749,054 (GRCm39)	K151R	probably damaging	Het
Scara5	G	A	14: 66,000,197 (GRCm39)	V456M	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc4a1	A	T	11: 102,243,279 (GRCm39)	V784D	probably damaging	Het
Sstr1	T	C	12: 58,259,569 (GRCm39)	I64T	possibly damaging	Het
Steap1	A	G	5: 5,790,708 (GRCm39)	I80T	probably benign	Het
Tbc1d24	T	A	17: 24,427,491 (GRCm39)	D157V	probably benign	Het
Thsd7a	T	C	6: 12,418,249 (GRCm39)	E660G		Het
Trappc3l	A	G	10: 33,932,786 (GRCm39)		probably benign	Het
Tsc22d2	T	C	3: 58,323,497 (GRCm39)	S130P	probably benign	Het
Tti2	T	A	8: 31,645,814 (GRCm39)	I376N	probably damaging	Het
Ttll2	C	A	17: 7,619,054 (GRCm39)	W291L	probably benign	Het
Ttll3	G	A	6: 113,376,657 (GRCm39)	V345I	possibly damaging	Het
Ttn	A	G	2: 76,565,046 (GRCm39)	Y28394H	probably damaging	Het
Usp45	A	G	4: 21,832,201 (GRCm39)	Y684C	probably damaging	Het
Vdr	A	G	15: 97,765,089 (GRCm39)	S217P	probably benign	Het
Xpot	A	G	10: 121,447,580 (GRCm39)	L105P	probably damaging	Het
Zan	A	G	5: 137,464,206 (GRCm39)	I533T	probably damaging	Het
Zbtb8a	T	C	4: 129,248,059 (GRCm39)	E404G	probably benign	Het
Zfp106	T	A	2: 120,369,906 (GRCm39)	I62F	probably damaging	Het
Zfp451	A	T	1: 33,815,562 (GRCm39)	F796Y	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
R0387:Raph1	UTSW	1	60,549,655 (GRCm39)	intron	probably benign
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
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'- ATGAAGGTTCAGGGTTACACAGATG -3'
(R):5'- AGGGCTTAAAACTTACTTAGGTAGG -3'

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

Posted On

2021-11-19