Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Rangap1'

318076

Institutional Source

Beutler Lab

Gene Symbol

Rangap1

Ensembl Gene

ENSMUSG00000022391

Gene Name

RAN GTPase activating protein 1

Synonyms

Fug1

MMRRC Submission

039974-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81588449-81614120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81590704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 463 (T463A)

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: T463A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391
AA Change: T463A

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: T463A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391
AA Change: T463A

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: T463A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391
AA Change: T463A

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

Meta Mutation Damage Score

0.0612

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,643,976 (GRCm39)	P55S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aoc1l1	C	T	6: 48,952,687 (GRCm39)	T204I	probably damaging	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arid1a	A	T	4: 133,480,401 (GRCm39)	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,480,539 (GRCm39)	I358T	probably benign	Het
Camkk2	G	A	5: 122,875,575 (GRCm39)	R492*	probably null	Het
Capn3	T	C	2: 120,294,421 (GRCm39)	V23A	probably benign	Het
Carm1	T	G	9: 21,491,606 (GRCm39)	V225G	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc60	C	A	5: 116,284,243 (GRCm39)	M298I	probably benign	Het
Celsr3	C	T	9: 108,723,016 (GRCm39)	P2801L	probably benign	Het
Clec4n	T	A	6: 123,207,505 (GRCm39)	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,948,382 (GRCm39)	L231V	probably damaging	Het
Csrnp3	T	G	2: 65,853,363 (GRCm39)	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,257 (GRCm39)	S318P	probably damaging	Het
Cubn	A	T	2: 13,344,828 (GRCm39)		probably null	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dnajc24	A	G	2: 105,832,268 (GRCm39)		probably benign	Het
Dner	A	T	1: 84,423,177 (GRCm39)	S475R	probably damaging	Het
Dtnb	T	C	12: 3,831,190 (GRCm39)	L630P	probably benign	Het
Dysf	T	C	6: 84,050,885 (GRCm39)	F411L	probably benign	Het
Fbh1	G	A	2: 11,762,339 (GRCm39)	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,315,004 (GRCm39)	T186K	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Grhl2	T	A	15: 37,336,558 (GRCm39)	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,551,742 (GRCm39)	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,553,127 (GRCm39)	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kifc1	A	G	17: 34,103,561 (GRCm39)		probably null	Het
Klk13	T	A	7: 43,370,431 (GRCm39)	N31K	possibly damaging	Het
Klri1	T	A	6: 129,674,347 (GRCm39)	H221L	probably benign	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Med16	T	C	10: 79,742,929 (GRCm39)	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,076,983 (GRCm39)	I92F	probably benign	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,055,139 (GRCm39)	F441I	probably damaging	Het
Ndst4	T	A	3: 125,232,331 (GRCm39)	L300*	probably null	Het
Nlgn2	G	T	11: 69,718,136 (GRCm39)	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Oas1f	G	A	5: 120,994,502 (GRCm39)	C341Y	possibly damaging	Het
Olfm5	A	T	7: 103,809,619 (GRCm39)	C111S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6c74	C	T	10: 129,870,187 (GRCm39)	Q231*	probably null	Het
Or6f2	A	T	7: 139,756,596 (GRCm39)	I188L	probably benign	Het
Or8b12c	A	G	9: 37,715,242 (GRCm39)	I12V	probably benign	Het
Or8g51	T	A	9: 38,609,500 (GRCm39)	H58L	probably benign	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,198,855 (GRCm39)	T338S	probably benign	Het
Pgghg	A	G	7: 140,523,260 (GRCm39)	M180V	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Rap1gds1	T	C	3: 138,756,317 (GRCm39)	I13V	probably null	Het
Rbak	A	T	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Reg3b	A	T	6: 78,348,797 (GRCm39)	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,118,533 (GRCm39)	Y12*	probably null	Het
Rnase6	A	G	14: 51,367,889 (GRCm39)	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,686,464 (GRCm39)	L273P	probably damaging	Het
Ryr3	A	C	2: 112,624,812 (GRCm39)	F2203V	probably damaging	Het
Sae1	A	T	7: 16,102,490 (GRCm39)	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,877 (GRCm39)	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,837,897 (GRCm39)	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc25a25	C	T	2: 32,310,663 (GRCm39)		probably null	Het
Slco4c1	T	A	1: 96,795,654 (GRCm39)	M135L	probably benign	Het
Slfn1	A	G	11: 83,012,579 (GRCm39)	I232V	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Srr	A	G	11: 74,799,542 (GRCm39)	V311A	probably damaging	Het
Tasor	T	C	14: 27,160,621 (GRCm39)	S128P	probably damaging	Het
Tasor	C	T	14: 27,201,746 (GRCm39)	H1419Y	possibly damaging	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Topors	T	C	4: 40,261,044 (GRCm39)	R747G	unknown	Het
Trank1	A	T	9: 111,220,696 (GRCm39)	I2478F	probably damaging	Het
Trim69	A	G	2: 121,998,165 (GRCm39)	N46D	probably benign	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttn	T	C	2: 76,644,649 (GRCm39)	K4708R	probably damaging	Het
Unkl	A	G	17: 25,428,619 (GRCm39)		probably benign	Het
Uros	A	T	7: 133,288,735 (GRCm39)	N257K	probably benign	Het
Usp25	A	G	16: 76,873,259 (GRCm39)	Y439C	probably damaging	Het
Vgf	A	G	5: 137,061,029 (GRCm39)		probably benign	Het
Vmn2r8	A	T	5: 108,947,152 (GRCm39)	D533E	probably damaging	Het
Vps13a	A	T	19: 16,702,995 (GRCm39)	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,545,742 (GRCm39)	V135A	possibly 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
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

Predicted Primers

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

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

Posted On

2015-05-19