Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02728:Rassf5'

305341

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rassf5

Ensembl Gene

ENSMUSG00000026430

Gene Name

Ras association (RalGDS/AF-6) domain family member 5

Synonyms

Rapl, 1300019G20Rik, Nore1A, Nore1B

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

131104147-131172915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131108336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 248 (D248G)

Ref Sequence

ENSEMBL: ENSMUSP00000148646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027688] [ENSMUST00000068564] [ENSMUST00000068791] [ENSMUST00000112442] [ENSMUST00000131855] [ENSMUST00000151874] [ENSMUST00000212202]

AlphaFold

Q5EBH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027688
AA Change: D348G

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027688
Gene: ENSMUSG00000026430
AA Change: D348G

Domain	Start	End	E-Value	Type
low complexity region	31	39	N/A	INTRINSIC
low complexity region	49	67	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
C1	116	165	6.29e-8	SMART
RA	267	359	1.07e-22	SMART
Pfam:Nore1-SARAH	366	405	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068564
AA Change: D200G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000067011
Gene: ENSMUSG00000026430
AA Change: D200G

Domain	Start	End	E-Value	Type
RA	119	211	1.07e-22	SMART
PDB:4LGD\|H	212	260	5e-25	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000068791

SMART Domains

Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112442
AA Change: M316V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108061
Gene: ENSMUSG00000026430
AA Change: M316V

Domain	Start	End	E-Value	Type
low complexity region	31	39	N/A	INTRINSIC
low complexity region	49	67	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
C1	116	165	6.29e-8	SMART
PDB:3DDC\|B	198	301	7e-62	PDB
Blast:RA	267	294	5e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000131855

SMART Domains

Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC
Pfam:SUI1	472	554	8.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151874

SMART Domains

Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC
Pfam:SUI1	472	556	1e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212202
AA Change: D248G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele have defects in lymphocyte homing to lymphoid tissues, B cell maturation and dendritic cell function, and display lymphocyte hyperproliferation leading to lupus glomerulonephritis and lymphomas. Homozygotes for another null allele are resistant to TNF-induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,073,880 (GRCm39)		probably benign	Het
Als2	A	G	1: 59,235,506 (GRCm39)	V726A	probably benign	Het
Apba1	G	A	19: 23,922,269 (GRCm39)	G779E	possibly damaging	Het
Atr	T	A	9: 95,818,528 (GRCm39)	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,983,846 (GRCm39)	K566E	probably damaging	Het
Btd	T	C	14: 31,389,319 (GRCm39)	F347L	probably benign	Het
Btg2	T	C	1: 134,006,643 (GRCm39)		probably benign	Het
Cblb	T	A	16: 52,003,672 (GRCm39)	S717T	probably benign	Het
Cep250	T	A	2: 155,825,198 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,828,968 (GRCm39)	N312S	probably benign	Het
Clasp1	A	T	1: 118,530,107 (GRCm39)	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,813,172 (GRCm39)	C2906S	probably benign	Het
Csmd1	C	T	8: 16,049,779 (GRCm39)		probably null	Het
Cspg4	T	A	9: 56,793,765 (GRCm39)	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,126,739 (GRCm39)	D469V	probably damaging	Het
Dhh	A	T	15: 98,792,192 (GRCm39)		probably null	Het
Dhrs3	A	G	4: 144,646,642 (GRCm39)	R231G	probably damaging	Het
Disp3	A	G	4: 148,356,495 (GRCm39)	S122P	probably damaging	Het
Dnah1	T	C	14: 31,005,955 (GRCm39)	I2275V	probably benign	Het
Dock8	A	C	19: 25,109,584 (GRCm39)	N922T	probably benign	Het
Eef1d	A	G	15: 75,774,945 (GRCm39)	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,763,510 (GRCm39)	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,505,502 (GRCm39)		probably benign	Het
Emb	A	G	13: 117,369,301 (GRCm39)	M50V	probably benign	Het
Eml4	T	C	17: 83,780,568 (GRCm39)		probably null	Het
Fkbp10	G	T	11: 100,306,803 (GRCm39)	R65L	probably damaging	Het
Gm5878	T	C	6: 85,095,574 (GRCm39)	N83S	probably benign	Het
Gm8165	C	T	14: 43,913,694 (GRCm39)	A57T	unknown	Het
Gpr179	A	G	11: 97,228,726 (GRCm39)	V1143A	probably damaging	Het
Hat1	T	C	2: 71,251,604 (GRCm39)	Y218H	probably damaging	Het
Hfm1	T	A	5: 107,026,689 (GRCm39)	N885I	probably benign	Het
Ift70a1	T	A	2: 75,811,193 (GRCm39)	M297L	probably benign	Het
Inha	T	C	1: 75,486,091 (GRCm39)	S129P	probably damaging	Het
Ints9	T	C	14: 65,230,457 (GRCm39)	I128T	probably damaging	Het
Klra9	T	C	6: 130,168,149 (GRCm39)		probably null	Het
Lrba	A	G	3: 86,683,356 (GRCm39)	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,691,410 (GRCm39)	N3356D	probably benign	Het
Map3k5	A	G	10: 19,994,038 (GRCm39)	D1008G	possibly damaging	Het
Med4	T	A	14: 73,755,415 (GRCm39)	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,557,716 (GRCm39)	V254A	possibly damaging	Het
Napg	C	T	18: 63,127,375 (GRCm39)		probably benign	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or5k1	C	T	16: 58,617,843 (GRCm39)	R122H	probably benign	Het
Or7g33	A	G	9: 19,449,142 (GRCm39)	F28S	possibly damaging	Het
Or8d2	T	C	9: 38,760,222 (GRCm39)	S271P	probably damaging	Het
Or9r3	T	A	10: 129,948,487 (GRCm39)	R57S	probably damaging	Het
Pias1	T	A	9: 62,830,926 (GRCm39)	S161C	probably damaging	Het
Pias1	G	T	9: 62,830,927 (GRCm39)	N160K	possibly damaging	Het
Pigp	G	A	16: 94,168,466 (GRCm39)	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,020,065 (GRCm39)	V1070E	probably benign	Het
Pramel51	G	T	12: 88,142,792 (GRCm39)	H275Q	probably benign	Het
Prepl	T	C	17: 85,378,010 (GRCm39)	T457A	probably damaging	Het
Psg23	G	A	7: 18,340,853 (GRCm39)	A467V	probably benign	Het
Rad54l	T	C	4: 115,980,146 (GRCm39)	R13G	probably benign	Het
Rspo1	A	G	4: 124,898,955 (GRCm39)	N92S	probably damaging	Het
Scube1	G	A	15: 83,543,217 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,511,554 (GRCm39)	V616F	probably damaging	Het
Sema3a	T	C	5: 13,615,881 (GRCm39)	V435A	probably damaging	Het
Slc7a10	T	A	7: 34,897,123 (GRCm39)	I208N	probably damaging	Het
Stab2	A	T	10: 86,692,420 (GRCm39)	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,665,235 (GRCm39)	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,677,480 (GRCm39)	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,681,676 (GRCm39)	W570R	probably damaging	Het
Telo2	A	T	17: 25,323,628 (GRCm39)	F600I	probably damaging	Het
Trim36	T	A	18: 46,305,669 (GRCm39)	H426L	probably benign	Het
Trpm6	A	T	19: 18,787,016 (GRCm39)	N531Y	possibly damaging	Het
Ttc39a	T	C	4: 109,299,920 (GRCm39)	C470R	probably damaging	Het
Ttn	C	T	2: 76,615,283 (GRCm39)	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,196,122 (GRCm39)	I1253F	probably damaging	Het
Unc79	A	T	12: 103,088,688 (GRCm39)	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,691,998 (GRCm39)	C89S	probably benign	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het

Other mutations in Rassf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03055:Rassf5	UTSW	1	131,172,732 (GRCm39)	missense	probably benign	0.00
R0464:Rassf5	UTSW	1	131,139,998 (GRCm39)	missense	probably benign	0.00
R0589:Rassf5	UTSW	1	131,172,720 (GRCm39)	missense	probably damaging	0.99
R0634:Rassf5	UTSW	1	131,172,693 (GRCm39)	missense	probably damaging	0.99
R0639:Rassf5	UTSW	1	131,172,803 (GRCm39)	missense	probably damaging	1.00
R0727:Rassf5	UTSW	1	131,109,002 (GRCm39)	missense	probably damaging	1.00
R1926:Rassf5	UTSW	1	131,140,076 (GRCm39)	missense	probably damaging	1.00
R2310:Rassf5	UTSW	1	131,172,477 (GRCm39)	missense	probably damaging	1.00
R5354:Rassf5	UTSW	1	131,108,385 (GRCm39)	missense	probably benign	0.00
R5422:Rassf5	UTSW	1	131,108,911 (GRCm39)	missense	possibly damaging	0.87
R5490:Rassf5	UTSW	1	131,108,932 (GRCm39)	missense	possibly damaging	0.95
R6189:Rassf5	UTSW	1	131,172,716 (GRCm39)	missense	probably damaging	1.00
R6328:Rassf5	UTSW	1	131,108,405 (GRCm39)	missense	probably damaging	1.00
R6531:Rassf5	UTSW	1	131,172,551 (GRCm39)	missense	possibly damaging	0.93
R6759:Rassf5	UTSW	1	131,109,988 (GRCm39)	missense	probably benign	0.08
R7115:Rassf5	UTSW	1	131,108,986 (GRCm39)	missense	probably benign	0.21
R7350:Rassf5	UTSW	1	131,106,273 (GRCm39)	missense	possibly damaging	0.75
R7910:Rassf5	UTSW	1	131,108,366 (GRCm39)	missense	probably benign	0.15
R8286:Rassf5	UTSW	1	131,140,067 (GRCm39)	missense	possibly damaging	0.73
R8706:Rassf5	UTSW	1	131,172,782 (GRCm39)	missense	probably benign	0.00
R8732:Rassf5	UTSW	1	131,106,264 (GRCm39)	makesense	probably null
R9023:Rassf5	UTSW	1	131,140,077 (GRCm39)	missense	probably benign	0.07
Z1176:Rassf5	UTSW	1	131,109,954 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16