Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01939:Rangap1'

180793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rangap1

Ensembl Gene

ENSMUSG00000022391

Gene Name

RAN GTPase activating protein 1

Synonyms

Fug1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01939

Quality Score

Status

Chromosome

Chromosomal Location

81588449-81614120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81604864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 82 (C82S)

Ref Sequence

ENSEMBL: ENSMUSP00000155851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052374] [ENSMUST00000170134] [ENSMUST00000171115] [ENSMUST00000230302] [ENSMUST00000230726]

AlphaFold

P46061

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052374
AA Change: C82S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391
AA Change: C82S

Domain	Start	End	E-Value	Type
LRR	48	75	3.34e-2	SMART
LRR	111	138	4.79e-3	SMART
LRR	141	168	8.34e-3	SMART
Blast:LRR	179	206	6e-8	BLAST
LRR	207	234	9.24e1	SMART
LRR	235	262	1.13e-4	SMART
LRR	263	290	8.37e1	SMART
LRR	292	319	4.74e0	SMART
LRR	320	347	3.21e-4	SMART
low complexity region	359	399	N/A	INTRINSIC
Pfam:RanGAP1_C	407	587	5.9e-79	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170134
AA Change: C82S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391
AA Change: C82S

Domain	Start	End	E-Value	Type
LRR	48	75	3.34e-2	SMART
LRR	111	138	4.79e-3	SMART
LRR	141	168	8.34e-3	SMART
Blast:LRR	179	206	6e-8	BLAST
LRR	207	234	9.24e1	SMART
LRR	235	262	1.13e-4	SMART
LRR	263	290	8.37e1	SMART
LRR	292	319	4.74e0	SMART
LRR	320	347	3.21e-4	SMART
low complexity region	359	399	N/A	INTRINSIC
Pfam:RanGAP1_C	406	588	7.4e-92	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171115
AA Change: C82S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391
AA Change: C82S

Domain	Start	End	E-Value	Type
LRR	48	75	3.34e-2	SMART
LRR	111	138	4.79e-3	SMART
LRR	141	168	8.34e-3	SMART
Blast:LRR	179	206	6e-8	BLAST
LRR	207	234	9.24e1	SMART
LRR	235	262	1.13e-4	SMART
LRR	263	290	8.37e1	SMART
LRR	292	319	4.74e0	SMART
LRR	320	347	3.21e-4	SMART
low complexity region	359	399	N/A	INTRINSIC
Pfam:RanGAP1_C	406	588	7.4e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230287

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230302
AA Change: C82S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230726
AA Change: C82S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

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 encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in embryo arrest at the egg cylinder stage and lethality by E8.5. The appearance of the proamniotic cavity is delayed and epiblast cells surrounding the cavity are disorganized. Mesoderm and placental development is impaired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,885,925 (GRCm39)	D22Y	probably damaging	Het
Ak7	T	C	12: 105,701,183 (GRCm39)	V242A	probably benign	Het
Cacna1b	T	C	2: 24,551,769 (GRCm39)	N1127S	probably damaging	Het
Cacnb2	A	T	2: 14,976,380 (GRCm39)	H267L	probably benign	Het
Ces1b	C	T	8: 93,806,059 (GRCm39)	G61R	probably damaging	Het
Cgnl1	T	A	9: 71,632,286 (GRCm39)	D355V	probably damaging	Het
Col24a1	T	C	3: 145,021,005 (GRCm39)	S459P	probably damaging	Het
Crygd	T	C	1: 65,101,185 (GRCm39)	T137A	probably benign	Het
Dctn4	T	A	18: 60,677,202 (GRCm39)	M174K	probably benign	Het
Evi5	A	G	5: 107,964,790 (GRCm39)		probably benign	Het
Fat2	T	G	11: 55,174,806 (GRCm39)	D1969A	probably benign	Het
Fcrl5	A	T	3: 87,353,606 (GRCm39)	E317V	probably damaging	Het
Foxf2	G	T	13: 31,810,697 (GRCm39)	S212I	probably damaging	Het
Gm21759	T	A	5: 8,230,685 (GRCm39)		probably benign	Het
Gm5414	A	G	15: 101,534,105 (GRCm39)		probably benign	Het
Gm7275	T	C	16: 47,893,946 (GRCm39)		noncoding transcript	Het
Hspa9	T	C	18: 35,071,761 (GRCm39)	E613G	possibly damaging	Het
Il1rl1	A	G	1: 40,501,168 (GRCm39)	I515V	possibly damaging	Het
Ins1	G	T	19: 52,253,173 (GRCm39)	A38S	probably damaging	Het
Klhl31	A	G	9: 77,562,488 (GRCm39)	N418D	probably benign	Het
Magi3	T	C	3: 103,961,778 (GRCm39)	K417E	probably damaging	Het
Msh4	A	G	3: 153,563,226 (GRCm39)	Y823H	probably damaging	Het
Myo6	T	A	9: 80,168,100 (GRCm39)	D421E	probably damaging	Het
Myom3	T	C	4: 135,492,900 (GRCm39)	S150P	possibly damaging	Het
Nectin1	C	T	9: 43,703,871 (GRCm39)		probably benign	Het
Nkx1-2	A	T	7: 132,201,203 (GRCm39)	I18N	probably damaging	Het
Or4s2b	A	G	2: 88,509,077 (GRCm39)	T286A	probably damaging	Het
Or5b113	A	T	19: 13,342,807 (GRCm39)	I272F	probably benign	Het
Or8g33	A	C	9: 39,337,634 (GRCm39)	H244Q	probably damaging	Het
Or9g4	T	C	2: 85,505,285 (GRCm39)	D70G	probably damaging	Het
Pde8b	T	C	13: 95,232,232 (GRCm39)	R237G	probably damaging	Het
Pp2d1	G	A	17: 53,822,167 (GRCm39)	L300F	probably damaging	Het
Ptpn21	A	T	12: 98,655,420 (GRCm39)	Y516N	probably damaging	Het
Ptprm	T	A	17: 67,370,158 (GRCm39)		probably benign	Het
Rabggtb	A	G	3: 153,617,650 (GRCm39)	V16A	probably damaging	Het
Rasal2	T	C	1: 157,003,480 (GRCm39)	E393G	probably damaging	Het
Rasgrf1	A	T	9: 89,856,889 (GRCm39)	E449V	probably damaging	Het
Rrp12	A	T	19: 41,859,334 (GRCm39)	H1143Q	probably damaging	Het
Scap	T	C	9: 110,208,549 (GRCm39)	I530T	probably benign	Het
Sel1l	T	A	12: 91,783,021 (GRCm39)	Q482L	probably damaging	Het
Serpinb9b	T	C	13: 33,223,648 (GRCm39)	M280T	probably damaging	Het
Slc39a10	T	A	1: 46,871,895 (GRCm39)	H348L	probably benign	Het
Slc7a2	T	C	8: 41,367,120 (GRCm39)	L542P	possibly damaging	Het
Tas1r2	A	T	4: 139,396,488 (GRCm39)	Q609L	probably damaging	Het
Tbc1d14	A	T	5: 36,665,781 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,365,262 (GRCm39)		probably null	Het
Tpo	T	C	12: 30,134,646 (GRCm39)	T771A	possibly damaging	Het
Tpr	G	A	1: 150,289,496 (GRCm39)	R609H	possibly damaging	Het
Usp34	T	A	11: 23,295,141 (GRCm39)		probably benign	Het
Vmn1r193	G	T	13: 22,403,893 (GRCm39)	S33*	probably null	Het
Vmn2r104	A	C	17: 20,250,187 (GRCm39)	S695A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r24	A	G	6: 123,764,404 (GRCm39)	D427G	probably benign	Het
Zfp362	A	G	4: 128,680,846 (GRCm39)	S160P	probably benign	Het

Other mutations in Rangap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Rangap1	APN	15	81,606,194 (GRCm39)	missense	probably benign	0.04
IGL01080:Rangap1	APN	15	81,589,953 (GRCm39)	splice site	probably benign
IGL01608:Rangap1	APN	15	81,593,705 (GRCm39)	missense	probably benign	0.00
IGL03163:Rangap1	APN	15	81,600,801 (GRCm39)	missense	probably damaging	1.00
R0413:Rangap1	UTSW	15	81,600,876 (GRCm39)	frame shift	probably null
R0423:Rangap1	UTSW	15	81,589,664 (GRCm39)	missense	probably damaging	1.00
R0843:Rangap1	UTSW	15	81,594,703 (GRCm39)	missense	probably benign
R1960:Rangap1	UTSW	15	81,590,704 (GRCm39)	missense	probably benign	0.00
R3687:Rangap1	UTSW	15	81,602,963 (GRCm39)	missense	possibly damaging	0.76
R3688:Rangap1	UTSW	15	81,602,963 (GRCm39)	missense	possibly damaging	0.76
R3713:Rangap1	UTSW	15	81,594,661 (GRCm39)	missense	probably benign	0.00
R3715:Rangap1	UTSW	15	81,594,661 (GRCm39)	missense	probably benign	0.00
R4727:Rangap1	UTSW	15	81,613,956 (GRCm39)	intron	probably benign
R4755:Rangap1	UTSW	15	81,597,118 (GRCm39)	missense	probably benign	0.00
R5051:Rangap1	UTSW	15	81,594,664 (GRCm39)	missense	probably benign	0.00
R5088:Rangap1	UTSW	15	81,594,664 (GRCm39)	missense	probably benign	0.00
R5089:Rangap1	UTSW	15	81,594,664 (GRCm39)	missense	probably benign	0.00
R5374:Rangap1	UTSW	15	81,590,695 (GRCm39)	missense	probably benign	0.01
R5391:Rangap1	UTSW	15	81,590,647 (GRCm39)	missense	probably benign	0.01
R5395:Rangap1	UTSW	15	81,590,647 (GRCm39)	missense	probably benign	0.01
R6439:Rangap1	UTSW	15	81,596,336 (GRCm39)	missense	probably benign
R8083:Rangap1	UTSW	15	81,603,101 (GRCm39)	missense	probably benign	0.02
R8161:Rangap1	UTSW	15	81,594,696 (GRCm39)	missense	probably benign	0.19
R8864:Rangap1	UTSW	15	81,610,270 (GRCm39)	intron	probably benign
R9320:Rangap1	UTSW	15	81,606,221 (GRCm39)	missense	probably benign	0.00
R9673:Rangap1	UTSW	15	81,590,637 (GRCm39)	missense	probably benign	0.31

Posted On

2014-05-07