Mutagenetix > Incidental Mutation

Incidental Mutation 'R9673:Rangap1'

728185

Institutional Source

Beutler Lab

Gene Symbol

Rangap1

Ensembl Gene

ENSMUSG00000022391

Gene Name

RAN GTPase activating protein 1

Synonyms

Fug1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9673 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81588449-81614120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81590637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 485 (D485G)

Ref Sequence

ENSEMBL: ENSMUSP00000057771 (fasta)

Gene Model

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

AlphaFold

P46061

PDB Structure

Structural Basis for E2-mediated SUMO conjugation revealed by a complex between ubiquitin conjugating enzyme Ubc9 and RanGAP1 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000052374
AA Change: D485G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391
AA Change: D485G

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

probably benign
Transcript: ENSMUST00000170134
AA Change: D485G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391
AA Change: D485G

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

probably benign
Transcript: ENSMUST00000171115
AA Change: D485G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391
AA Change: D485G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,399 (GRCm39)	K318E	probably benign	Het
Ap5z1	T	C	5: 142,463,113 (GRCm39)	F766L	probably benign	Het
Atrnl1	A	G	19: 57,599,786 (GRCm39)	M1V	probably null	Het
Atxn1	T	C	13: 45,710,622 (GRCm39)	E770G	probably benign	Het
Brwd1	T	G	16: 95,813,096 (GRCm39)	I1471L	probably benign	Het
Bud23	T	C	5: 135,082,571 (GRCm39)	E66G	probably benign	Het
Cdh8	T	A	8: 99,757,367 (GRCm39)	I744L	possibly damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cep95	C	A	11: 106,703,322 (GRCm39)	H467Q	probably benign	Het
Chd1	A	G	17: 15,989,023 (GRCm39)	Y1592C	probably benign	Het
Chkb	C	G	15: 89,313,628 (GRCm39)	G59A	probably damaging	Het
Copa	A	G	1: 171,945,648 (GRCm39)	S915G	probably benign	Het
Creb3	G	T	4: 43,563,191 (GRCm39)	V97F	probably damaging	Het
Csmd2	T	A	4: 128,308,062 (GRCm39)	H1273Q		Het
Cxcr1	T	C	1: 74,231,074 (GRCm39)	N316S	probably benign	Het
Cyct	A	T	2: 76,184,523 (GRCm39)	I76N	probably damaging	Het
Dmxl2	G	T	9: 54,294,840 (GRCm39)	R2412S	probably damaging	Het
Dnah11	A	G	12: 117,982,513 (GRCm39)	M2552T	possibly damaging	Het
Dnph1	G	A	17: 46,809,901 (GRCm39)	E148K	possibly damaging	Het
Ecpas	T	C	4: 58,822,060 (GRCm39)	N1169S	probably benign	Het
Esp16	T	A	17: 39,848,731 (GRCm39)	Y8*	probably null	Het
Fam186a	T	C	15: 99,841,024 (GRCm39)	D1740G	possibly damaging	Het
Fam76a	C	A	4: 132,628,557 (GRCm39)	K300N	probably damaging	Het
Fcgbpl1	A	G	7: 27,856,044 (GRCm39)	T1944A	probably benign	Het
Frrs1l	A	C	4: 56,990,191 (GRCm39)	D27E		Het
G6pc1	T	C	11: 101,267,380 (GRCm39)	S277P	probably damaging	Het
Gabrg3	T	A	7: 56,973,422 (GRCm39)	I82F	probably damaging	Het
Gm3604	G	T	13: 62,517,969 (GRCm39)	Q130K	probably benign	Het
Hhip	T	A	8: 80,719,108 (GRCm39)	D473V	probably damaging	Het
Ifi209	T	C	1: 173,470,332 (GRCm39)	S307P	probably damaging	Het
Ino80c	C	T	18: 24,254,856 (GRCm39)	M1I	probably null	Het
Jag2	G	T	12: 112,875,416 (GRCm39)	C872*	probably null	Het
Kcnma1	A	C	14: 23,558,123 (GRCm39)	H474Q	probably benign	Het
Krr1	G	A	10: 111,818,963 (GRCm39)		probably null	Het
Lats1	T	G	10: 7,588,387 (GRCm39)	D1001E	probably benign	Het
Lilrb4b	T	C	10: 51,357,753 (GRCm39)	L149P	probably benign	Het
Lrrk2	T	A	15: 91,649,884 (GRCm39)	S1674T	probably damaging	Het
Magi2	A	G	5: 20,670,582 (GRCm39)	I309V	possibly damaging	Het
Mtmr4	T	C	11: 87,504,916 (GRCm39)	V1137A	probably damaging	Het
Mtmr4	A	G	11: 87,503,138 (GRCm39)	D1064G	probably damaging	Het
Neb	C	T	2: 52,133,853 (GRCm39)		probably null	Het
Nhsl1	T	A	10: 18,402,665 (GRCm39)	V1297E	possibly damaging	Het
Nlrp3	T	A	11: 59,440,148 (GRCm39)	V575D	probably damaging	Het
Nptx2	T	C	5: 144,492,159 (GRCm39)	I312T	possibly damaging	Het
Osm	A	G	11: 4,189,926 (GRCm39)	T237A	probably benign	Het
Pcdha12	T	C	18: 37,155,234 (GRCm39)	V651A	possibly damaging	Het
Pclo	A	G	5: 14,908,758 (GRCm39)		probably null	Het
Pdlim3	C	T	8: 46,368,195 (GRCm39)	S183L	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pgm2	T	A	5: 64,273,671 (GRCm39)	M552K	probably damaging	Het
Pkhd1l1	T	C	15: 44,386,901 (GRCm39)	L1258S	probably benign	Het
Proser3	T	G	7: 30,248,530 (GRCm39)	T55P	probably damaging	Het
Ranbp2	C	A	10: 58,300,963 (GRCm39)	P611Q	probably damaging	Het
Rp1	G	A	1: 4,337,792 (GRCm39)	T421I	unknown	Het
Ryr3	G	A	2: 112,486,883 (GRCm39)	L3862F	possibly damaging	Het
Sbf1	C	T	15: 89,179,675 (GRCm39)	G1337R	possibly damaging	Het
Setd2	A	G	9: 110,378,138 (GRCm39)	E651G	probably damaging	Het
Shmt1	A	G	11: 60,692,769 (GRCm39)	W105R	probably damaging	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc22a29	T	C	19: 8,140,104 (GRCm39)	I434V	probably benign	Het
Sord	C	T	2: 122,090,712 (GRCm39)	T221I	probably benign	Het
Speer1g	T	A	5: 11,178,990 (GRCm39)	N55K	probably benign	Het
Tbcd	T	C	11: 121,464,647 (GRCm39)	Y561H	probably damaging	Het
Tcaf1	G	A	6: 42,663,808 (GRCm39)	S24F	probably benign	Het
Tenm4	A	T	7: 96,517,196 (GRCm39)	D1429V	probably damaging	Het
Tesk1	A	G	4: 43,444,574 (GRCm39)	Y126C	probably damaging	Het
Tmem176a	G	A	6: 48,820,952 (GRCm39)	V141I	probably benign	Het
Tmem204	A	T	17: 25,299,243 (GRCm39)	V92D	probably damaging	Het
Ttn	T	A	2: 76,572,605 (GRCm39)	D26096V	probably damaging	Het
Vmn1r70	T	A	7: 10,368,364 (GRCm39)	L284Q	probably damaging	Het
Vmn2r77	T	C	7: 86,450,171 (GRCm39)	V139A	possibly damaging	Het
Wdpcp	A	G	11: 21,671,285 (GRCm39)	R509G	possibly damaging	Het
Wee1	C	T	7: 109,725,210 (GRCm39)	T284I	probably damaging	Het
Wfs1	A	G	5: 37,125,113 (GRCm39)	S593P	probably damaging	Het
Zbtb11	A	G	16: 55,827,336 (GRCm39)	H934R	probably damaging	Het
Zfp277	A	T	12: 40,370,611 (GRCm39)	V446E	probably benign	Het
Zfp874a	C	A	13: 67,591,156 (GRCm39)	R176L	probably benign	Het
Znrf2	A	T	6: 54,840,978 (GRCm39)	N184I	probably damaging	Het
Zp2	T	A	7: 119,733,238 (GRCm39)	T568S	probably damaging	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
IGL01939:Rangap1	APN	15	81,604,864 (GRCm39)	missense	probably damaging	0.97
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

Predicted Primers

PCR Primer
(F):5'- TGGCTTAAGATAGGCAGTGACC -3'
(R):5'- AGGTTTTCCCCAGGCTCTAG -3'

Sequencing Primer
(F):5'- AGTGACCTGCCCTGACC -3'
(R):5'- CAGGCTCTAGGGAGTCATCTG -3'

Posted On

2022-10-06