Mutagenetix > Incidental Mutation

Incidental Mutation 'R5391:Rangap1'

425875

Institutional Source

Beutler Lab

Gene Symbol

Rangap1

Ensembl Gene

ENSMUSG00000022391

Gene Name

RAN GTPase activating protein 1

Synonyms

Fug1

MMRRC Submission

042963-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5391 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81588449-81614120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81590647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 482 (F482L)

Ref Sequence

ENSEMBL: ENSMUSP00000130046 (fasta)

Gene Model

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

AlphaFold

P46061

Predicted Effect

probably benign
Transcript: ENSMUST00000052374
AA Change: F482L

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

SMART Domains

Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391
AA Change: F482L

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: F482L

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

SMART Domains

Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391
AA Change: F482L

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: F482L

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

SMART Domains

Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391
AA Change: F482L

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: ENSMUST00000229705

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,855,481 (GRCm39)	M38I	probably null	Het
Actl7a	A	G	4: 56,743,661 (GRCm39)	T63A	probably benign	Het
Amfr	G	A	8: 94,702,676 (GRCm39)	P497S	probably damaging	Het
Ankrd33b	T	C	15: 31,325,352 (GRCm39)	I122V	probably damaging	Het
Asap1	G	T	15: 63,965,901 (GRCm39)	T1011K	possibly damaging	Het
Cbfa2t3	G	A	8: 123,360,134 (GRCm39)	R506*	probably null	Het
Ccs	C	G	19: 4,883,510 (GRCm39)	C96S	probably benign	Het
Cpt1a	A	G	19: 3,399,260 (GRCm39)	D20G	probably damaging	Het
Ctdspl2	G	A	2: 121,834,629 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,510 (GRCm39)	Y365C	probably damaging	Het
Dnah3	C	T	7: 119,689,299 (GRCm39)	M38I	probably benign	Het
Dnajc6	T	C	4: 101,485,355 (GRCm39)		probably null	Het
Elac2	A	G	11: 64,885,120 (GRCm39)	S450G	probably benign	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Il12rb2	T	C	6: 67,269,404 (GRCm39)	N803S	probably benign	Het
Itgb4	T	A	11: 115,875,894 (GRCm39)	M477K	probably benign	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Krt78	C	A	15: 101,860,263 (GRCm39)	E218*	probably null	Het
Lpar1	A	G	4: 58,486,902 (GRCm39)	L105P	probably damaging	Het
Megf8	G	A	7: 25,039,714 (GRCm39)	G936D	possibly damaging	Het
Mov10	G	A	3: 104,709,849 (GRCm39)	H346Y	probably benign	Het
Nfia	A	G	4: 97,671,538 (GRCm39)	I83V	probably damaging	Het
Or5b101	G	T	19: 13,005,150 (GRCm39)	A181E	probably damaging	Het
Or6d15	T	C	6: 116,559,808 (GRCm39)	Y33C	probably damaging	Het
Pcdhgb6	T	G	18: 37,875,640 (GRCm39)	I116S	probably damaging	Het
Pdcd6ip	G	T	9: 113,520,586 (GRCm39)	Q133K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Pik3cd	A	T	4: 149,743,588 (GRCm39)	V207E	probably damaging	Het
Ptov1	T	C	7: 44,513,008 (GRCm39)	Q397R	probably damaging	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rasl12	G	T	9: 65,305,949 (GRCm39)	A35S	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,330,044 (GRCm39)	V657A	possibly damaging	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Tbce	T	C	13: 14,180,550 (GRCm39)	I293M	probably damaging	Het
Tektl1	G	A	10: 78,588,688 (GRCm39)	Q41*	probably null	Het
Tmem176a	T	C	6: 48,821,630 (GRCm39)	L204P	probably damaging	Het
Tmem87a	A	G	2: 120,193,358 (GRCm39)		probably null	Het
Tns1	A	T	1: 74,029,568 (GRCm39)		probably null	Het
Usf3	T	A	16: 44,037,826 (GRCm39)	S769T	probably benign	Het
Vmn2r82	A	G	10: 79,192,491 (GRCm39)	T23A	probably null	Het
Vps26a	A	G	10: 62,292,526 (GRCm39)	*328Q	probably null	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wwc2	A	T	8: 48,316,906 (GRCm39)	I729K	unknown	Het
Zbtb44	A	G	9: 30,964,601 (GRCm39)		probably null	Het
Zfp800	A	T	6: 28,242,992 (GRCm39)	S658T	probably damaging	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zfp935	G	T	13: 62,602,632 (GRCm39)	Y189*	probably null	Het
Zkscan1	T	A	5: 138,095,363 (GRCm39)	H203Q	probably benign	Het
Zkscan14	T	C	5: 145,132,604 (GRCm39)	D309G	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGACTACCTGGCTTAAGATAGGC -3'
(R):5'- CTCTAGGGAGTCATCTGGGGAAAG -3'

Sequencing Primer
(F):5'- TGGCTTAAGATAGGCAGTGACCTG -3'
(R):5'- TCATCTGGGGAAAGCCGCTAC -3'

Posted On

2016-08-04