Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02976:Rassf4'

406372

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rassf4

Ensembl Gene

ENSMUSG00000042129

Gene Name

Ras association (RalGDS/AF-6) domain family member 4

Synonyms

3830411C14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02976

Quality Score

Status

Chromosome

Chromosomal Location

116609969-116650797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116615209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 320 (E320G)

Ref Sequence

ENSEMBL: ENSMUSP00000048267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035842] [ENSMUST00000203029]

AlphaFold

Q8CB96

Predicted Effect

probably damaging
Transcript: ENSMUST00000035842
AA Change: E320G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129
AA Change: E320G

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
low complexity region	46	57	N/A	INTRINSIC
RA	173	263	1.36e-15	SMART
Pfam:Nore1-SARAH	276	315	1.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203029

SMART Domains

Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
low complexity region	46	57	N/A	INTRINSIC
RA	173	263	8.7e-18	SMART
Pfam:Nore1-SARAH	276	303	1.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204313

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,816,845 (GRCm39)	T84A	possibly damaging	Het
Adgrd1	T	A	5: 129,208,661 (GRCm39)	S288T	probably benign	Het
Ano7	T	A	1: 93,330,395 (GRCm39)	D806E	possibly damaging	Het
Arl6	A	G	16: 59,444,259 (GRCm39)	L79P	probably damaging	Het
Card6	A	T	15: 5,129,310 (GRCm39)	C695*	probably null	Het
Carmil1	T	C	13: 24,276,534 (GRCm39)	N610S	possibly damaging	Het
Cdc40	A	G	10: 40,758,917 (GRCm39)	V52A	probably benign	Het
Chd4	G	A	6: 125,098,331 (GRCm39)	R369H	probably damaging	Het
Clasp2	C	T	9: 113,735,204 (GRCm39)	P1031L	probably damaging	Het
Cldn34d	C	T	X: 75,626,690 (GRCm39)	A121T	probably benign	Het
Clmp	A	C	9: 40,692,520 (GRCm39)	Y263S	possibly damaging	Het
Cntn5	A	G	9: 10,419,104 (GRCm39)		probably benign	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fut1	C	T	7: 45,268,744 (GRCm39)	R233C	probably damaging	Het
Gcdh	A	C	8: 85,615,207 (GRCm39)	Y398D	probably damaging	Het
Gm26741	T	G	10: 52,234,910 (GRCm39)	S16R	possibly damaging	Het
Jph3	T	A	8: 122,479,823 (GRCm39)	L167Q	probably damaging	Het
Jup	A	G	11: 100,269,192 (GRCm39)	V407A	probably benign	Het
Kif17	C	T	4: 137,996,374 (GRCm39)	A117V	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Magi2	C	T	5: 20,739,473 (GRCm39)	P349S	probably damaging	Het
Mlycd	T	C	8: 120,128,224 (GRCm39)	M177T	possibly damaging	Het
Mocos	A	G	18: 24,799,626 (GRCm39)	K287E	possibly damaging	Het
Morc2b	T	A	17: 33,356,497 (GRCm39)	H425L	possibly damaging	Het
Mrpl9	T	A	3: 94,355,084 (GRCm39)		probably benign	Het
Myo3a	G	A	2: 22,434,494 (GRCm39)	W825*	probably null	Het
Npas2	T	C	1: 39,326,565 (GRCm39)	S17P	probably damaging	Het
Nrk	A	G	X: 137,892,817 (GRCm39)	I1174V	probably benign	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or4d11	A	T	19: 12,013,337 (GRCm39)	Y256*	probably null	Het
Or4k2	G	A	14: 50,423,889 (GRCm39)	Q262*	probably null	Het
Parpbp	A	G	10: 87,947,456 (GRCm39)		probably null	Het
Pcdh10	T	C	3: 45,334,448 (GRCm39)	V254A	possibly damaging	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Ptpn1	T	C	2: 167,813,704 (GRCm39)	V149A	probably benign	Het
Rgl2	T	A	17: 34,152,936 (GRCm39)	D448E	possibly damaging	Het
Rnf32	C	T	5: 29,411,710 (GRCm39)		probably null	Het
Rpa1	T	A	11: 75,203,628 (GRCm39)	D358V	probably damaging	Het
Sdk2	T	C	11: 113,742,668 (GRCm39)	N747S	probably damaging	Het
Slc17a4	A	C	13: 24,089,407 (GRCm39)	M170R	probably damaging	Het
Slc5a4a	G	A	10: 76,006,527 (GRCm39)	V310M	possibly damaging	Het
Spag9	G	A	11: 93,974,779 (GRCm39)	R463H	probably benign	Het
Spmip5	A	T	19: 58,777,552 (GRCm39)	V78E	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt10	A	G	15: 89,698,682 (GRCm39)	S221P	probably benign	Het
Tlk1	T	A	2: 70,551,935 (GRCm39)	K579*	probably null	Het
Tubgcp3	T	C	8: 12,682,300 (GRCm39)	Y673C	probably damaging	Het
Vmn1r223	T	C	13: 23,434,165 (GRCm39)	F253S	probably damaging	Het
Vmn2r83	T	C	10: 79,304,832 (GRCm39)	M14T	probably benign	Het
Zfp59	A	G	7: 27,552,821 (GRCm39)	D91G	probably benign	Het

Other mutations in Rassf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Rassf4	APN	6	116,622,089 (GRCm39)	missense	possibly damaging	0.47
IGL01132:Rassf4	APN	6	116,636,568 (GRCm39)	splice site	probably benign
IGL01637:Rassf4	APN	6	116,618,651 (GRCm39)	missense	probably damaging	1.00
IGL02000:Rassf4	APN	6	116,622,933 (GRCm39)	missense	probably benign	0.20
IGL02748:Rassf4	APN	6	116,616,418 (GRCm39)	missense	possibly damaging	0.93
IGL03394:Rassf4	APN	6	116,618,708 (GRCm39)	missense	probably damaging	1.00
R0573:Rassf4	UTSW	6	116,624,516 (GRCm39)	splice site	probably benign
R0599:Rassf4	UTSW	6	116,622,897 (GRCm39)	missense	probably damaging	1.00
R1741:Rassf4	UTSW	6	116,616,450 (GRCm39)	missense	probably damaging	1.00
R1750:Rassf4	UTSW	6	116,617,228 (GRCm39)	missense	probably damaging	1.00
R2117:Rassf4	UTSW	6	116,622,088 (GRCm39)	missense	possibly damaging	0.86
R2369:Rassf4	UTSW	6	116,615,258 (GRCm39)	missense	probably damaging	0.97
R2916:Rassf4	UTSW	6	116,618,701 (GRCm39)	missense	probably damaging	1.00
R2918:Rassf4	UTSW	6	116,618,701 (GRCm39)	missense	probably damaging	1.00
R4829:Rassf4	UTSW	6	116,622,103 (GRCm39)	missense	possibly damaging	0.80
R5716:Rassf4	UTSW	6	116,638,828 (GRCm39)	missense	probably benign	0.01
R6769:Rassf4	UTSW	6	116,618,433 (GRCm39)	missense	possibly damaging	0.95
R7304:Rassf4	UTSW	6	116,617,278 (GRCm39)	missense	probably damaging	0.99
R7981:Rassf4	UTSW	6	116,617,218 (GRCm39)	missense	probably damaging	1.00
R8890:Rassf4	UTSW	6	116,617,305 (GRCm39)	missense	probably damaging	1.00
R8921:Rassf4	UTSW	6	116,638,897 (GRCm39)	splice site	probably benign
R9459:Rassf4	UTSW	6	116,618,749 (GRCm39)	critical splice acceptor site	probably null
R9516:Rassf4	UTSW	6	116,617,265 (GRCm39)	missense	possibly damaging	0.89
R9698:Rassf4	UTSW	6	116,618,662 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02