Mutagenetix > Incidental Mutation

Incidental Mutation 'R7363:Nup205'

571469

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

045448-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35154551-35224534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35209508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1605 (T1605M)

Ref Sequence

ENSEMBL: ENSMUSP00000144126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043815] [ENSMUST00000170234] [ENSMUST00000201374]

AlphaFold

A0A0J9YUD5

Predicted Effect

probably benign
Transcript: ENSMUST00000043815
AA Change: T1552M

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: T1552M

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Nup192	14	1684	N/A	PFAM
low complexity region	1995	2005	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170234

SMART Domains

Protein: ENSMUSP00000130033
Gene: ENSMUSG00000038759

Domain	Start	End	E-Value	Type
Pfam:DUF3414	13	322	9.7e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201374
AA Change: T1605M

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: T1605M

Domain	Start	End	E-Value	Type
low complexity region	36	50	N/A	INTRINSIC
Pfam:Nup192	67	1737	N/A	PFAM
low complexity region	2048	2058	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]

Allele List at MGI

All alleles(32) : Targeted(2) Gene trapped(30)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,782 (GRCm39)	N190I	probably damaging	Het
Ablim1	G	T	19: 57,204,173 (GRCm39)	L73I	probably benign	Het
Adamts4	A	T	1: 171,086,608 (GRCm39)	Q800L	probably benign	Het
Atm	A	T	9: 53,376,598 (GRCm39)	I2014N	probably damaging	Het
Atp2a1	A	G	7: 126,062,061 (GRCm39)	C12R	possibly damaging	Het
B3galnt1	A	T	3: 69,483,157 (GRCm39)	Y35N	probably damaging	Het
Bnc2	A	T	4: 84,210,308 (GRCm39)	M687K	probably benign	Het
Cacna2d4	A	G	6: 119,320,939 (GRCm39)	Y917C	probably damaging	Het
Cemip2	T	C	19: 21,833,575 (GRCm39)	F1338L	probably benign	Het
Ces2e	A	G	8: 105,659,632 (GRCm39)		probably null	Het
Cldn23	A	G	8: 36,292,659 (GRCm39)		probably null	Het
Cntn5	G	T	9: 10,172,021 (GRCm39)	S54R	probably benign	Het
Cyria	T	A	12: 12,390,665 (GRCm39)		probably null	Het
Dido1	G	T	2: 180,304,310 (GRCm39)	S1198*	probably null	Het
Dnah12	A	G	14: 26,445,766 (GRCm39)	M776V	probably benign	Het
Dnah14	A	G	1: 181,518,089 (GRCm39)		probably null	Het
Dnttip1	GGGCCGGC	GGGC	2: 164,599,605 (GRCm39)		probably null	Het
Dusp28	A	T	1: 92,834,861 (GRCm39)	T29S	probably benign	Het
Erich1	A	T	8: 14,083,688 (GRCm39)	S127R	probably benign	Het
Fam151a	T	A	4: 106,602,681 (GRCm39)	L200H	probably damaging	Het
Fbxw8	A	T	5: 118,263,057 (GRCm39)	H207Q	probably damaging	Het
Fgf22	A	G	10: 79,592,676 (GRCm39)	E116G	probably benign	Het
Gapvd1	C	A	2: 34,602,207 (GRCm39)	V647F	probably benign	Het
Garin4	A	T	1: 190,895,910 (GRCm39)	S244R	probably damaging	Het
Gja4	T	A	4: 127,206,487 (GRCm39)	Y92F	probably damaging	Het
Gtf3c2	G	A	5: 31,327,600 (GRCm39)	R288W	probably damaging	Het
Hira	G	T	16: 18,716,532 (GRCm39)	R99L	possibly damaging	Het
Ighv16-1	C	T	12: 114,032,721 (GRCm39)	G27D	probably damaging	Het
Igkv1-133	C	T	6: 67,702,395 (GRCm39)	P38S	probably benign	Het
Igkv4-59	T	C	6: 69,415,396 (GRCm39)	Y53C	probably damaging	Het
Il23a	T	C	10: 128,133,020 (GRCm39)	E113G	probably damaging	Het
Kcnip1	A	G	11: 33,584,589 (GRCm39)	V188A	probably benign	Het
L3mbtl3	T	C	10: 26,216,850 (GRCm39)	K155E	unknown	Het
Lancl2	T	G	6: 57,699,664 (GRCm39)	C169G	probably benign	Het
Lrrc26	A	G	2: 25,180,581 (GRCm39)	D194G	probably benign	Het
Lrrfip1	C	T	1: 91,050,842 (GRCm39)	A545V	probably benign	Het
Lrtm1	T	C	14: 28,743,850 (GRCm39)	F106S	probably damaging	Het
Lypd2	A	T	15: 74,604,848 (GRCm39)	M49K	probably damaging	Het
Mbd1	A	C	18: 74,406,357 (GRCm39)	D63A	probably damaging	Het
Mdn1	T	C	4: 32,691,729 (GRCm39)	F990L	probably damaging	Het
Mtfr1l	T	C	4: 134,256,577 (GRCm39)	E196G	probably benign	Het
Myh10	A	G	11: 68,705,874 (GRCm39)	T2007A	probably benign	Het
Nckap1	G	A	2: 80,370,512 (GRCm39)	R393C	probably damaging	Het
Or1e33	T	C	11: 73,738,741 (GRCm39)	D70G	probably damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Pgap2	T	A	7: 101,875,467 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,619,387 (GRCm39)	S741G	probably benign	Het
Plcd4	A	T	1: 74,590,231 (GRCm39)	S155C	probably null	Het
Poc5	A	T	13: 96,540,925 (GRCm39)	T365S	possibly damaging	Het
Ppp2r5c	G	A	12: 110,489,041 (GRCm39)	A71T	probably benign	Het
Prdm6	T	A	18: 53,598,199 (GRCm39)	I187N	possibly damaging	Het
Pxk	A	G	14: 8,152,118 (GRCm38)	Q478R	probably benign	Het
Rgl1	T	C	1: 152,394,914 (GRCm39)	Y718C	probably damaging	Het
Ring1	G	T	17: 34,243,336 (GRCm39)	T2K	possibly damaging	Het
Sdk1	A	G	5: 142,173,897 (GRCm39)	S2022G	probably benign	Het
Sec61a1	C	A	6: 88,492,533 (GRCm39)	V32F	probably benign	Het
Sv2b	G	A	7: 74,797,402 (GRCm39)	P331S	probably damaging	Het
Syne1	T	C	10: 5,090,970 (GRCm39)	S795G	possibly damaging	Het
Tmod2	T	C	9: 75,484,023 (GRCm39)	E309G	probably damaging	Het
Tpp2	T	G	1: 44,024,582 (GRCm39)	S987A	probably benign	Het
Trim75	G	C	8: 65,435,539 (GRCm39)	H304D	probably damaging	Het
Trp53bp2	G	T	1: 182,272,231 (GRCm39)	D447Y	probably damaging	Het
Ube3a	A	G	7: 58,936,751 (GRCm39)	K697E	probably benign	Het
Vmn2r13	T	A	5: 109,339,909 (GRCm39)	H22L	probably benign	Het
Vmn2r4	G	A	3: 64,314,432 (GRCm39)	S183F	probably damaging	Het
Vwa8	T	C	14: 79,256,147 (GRCm39)	Y721H	probably benign	Het
Wbp1l	C	T	19: 46,642,569 (GRCm39)	P190L	possibly damaging	Het
Zcchc4	A	T	5: 52,942,510 (GRCm39)	Q105L	possibly damaging	Het
Zfp236	T	C	18: 82,639,456 (GRCm39)	R1264G	probably damaging	Het
Zfpm2	T	A	15: 40,616,413 (GRCm39)	N54K	probably damaging	Het
Zkscan3	C	T	13: 21,571,992 (GRCm39)	G547S	probably damaging	Het

Other mutations in Nup205

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Nup205	APN	6	35,191,737 (GRCm39)	missense	probably damaging	1.00
IGL01086:Nup205	APN	6	35,185,871 (GRCm39)	splice site	probably benign
IGL01138:Nup205	APN	6	35,185,019 (GRCm39)	nonsense	probably null
IGL01333:Nup205	APN	6	35,217,998 (GRCm39)	missense	probably benign
IGL01399:Nup205	APN	6	35,196,624 (GRCm39)	missense	possibly damaging	0.80
IGL01466:Nup205	APN	6	35,176,894 (GRCm39)	missense	probably benign	0.08
IGL01913:Nup205	APN	6	35,204,365 (GRCm39)	missense	probably benign	0.10
IGL02159:Nup205	APN	6	35,166,113 (GRCm39)	missense	probably damaging	1.00
IGL02442:Nup205	APN	6	35,167,003 (GRCm39)	missense	probably benign	0.01
IGL02447:Nup205	APN	6	35,204,511 (GRCm39)	splice site	probably null
IGL02558:Nup205	APN	6	35,166,859 (GRCm39)	missense	probably damaging	1.00
IGL03306:Nup205	APN	6	35,185,104 (GRCm39)	missense	probably damaging	0.98
IGL03328:Nup205	APN	6	35,209,349 (GRCm39)	missense	probably damaging	0.99
Figaro	UTSW	6	35,173,649 (GRCm39)	splice site	probably null
Marcellina	UTSW	6	35,160,904 (GRCm39)	missense	probably damaging	1.00
Spirit	UTSW	6	35,209,343 (GRCm39)	missense	probably damaging	0.98
Susanna	UTSW	6	35,185,044 (GRCm39)	missense	possibly damaging	0.94
voyager	UTSW	6	35,166,820 (GRCm39)	missense	possibly damaging	0.80
BB007:Nup205	UTSW	6	35,171,511 (GRCm39)	missense	probably damaging	0.98
BB017:Nup205	UTSW	6	35,171,511 (GRCm39)	missense	probably damaging	0.98
P0012:Nup205	UTSW	6	35,173,478 (GRCm39)	missense	possibly damaging	0.90
R0102:Nup205	UTSW	6	35,202,715 (GRCm39)	splice site	probably benign
R0102:Nup205	UTSW	6	35,202,715 (GRCm39)	splice site	probably benign
R0362:Nup205	UTSW	6	35,173,649 (GRCm39)	splice site	probably null
R0374:Nup205	UTSW	6	35,185,772 (GRCm39)	missense	probably damaging	1.00
R0415:Nup205	UTSW	6	35,191,569 (GRCm39)	splice site	probably benign
R0427:Nup205	UTSW	6	35,171,398 (GRCm39)	missense	probably benign	0.01
R0543:Nup205	UTSW	6	35,175,904 (GRCm39)	missense	probably benign
R0611:Nup205	UTSW	6	35,202,903 (GRCm39)	missense	probably null	1.00
R0761:Nup205	UTSW	6	35,173,363 (GRCm39)	splice site	probably benign
R0828:Nup205	UTSW	6	35,171,501 (GRCm39)	missense	probably benign
R0906:Nup205	UTSW	6	35,213,827 (GRCm39)	missense	probably damaging	1.00
R1023:Nup205	UTSW	6	35,211,641 (GRCm39)	missense	probably damaging	0.98
R1033:Nup205	UTSW	6	35,204,377 (GRCm39)	missense	probably benign
R1375:Nup205	UTSW	6	35,177,006 (GRCm39)	splice site	probably benign
R1447:Nup205	UTSW	6	35,192,120 (GRCm39)	missense	probably benign	0.00
R1468:Nup205	UTSW	6	35,202,917 (GRCm39)	critical splice donor site	probably null
R1468:Nup205	UTSW	6	35,202,917 (GRCm39)	critical splice donor site	probably null
R1625:Nup205	UTSW	6	35,168,878 (GRCm39)	missense	probably benign	0.31
R1652:Nup205	UTSW	6	35,215,901 (GRCm39)	missense	probably benign
R1659:Nup205	UTSW	6	35,211,723 (GRCm39)	missense	probably benign	0.02
R1693:Nup205	UTSW	6	35,187,906 (GRCm39)	missense	probably benign	0.05
R1769:Nup205	UTSW	6	35,182,366 (GRCm39)	missense	probably damaging	1.00
R1839:Nup205	UTSW	6	35,196,649 (GRCm39)	missense	probably benign	0.00
R1959:Nup205	UTSW	6	35,210,301 (GRCm39)	missense	probably benign	0.16
R2051:Nup205	UTSW	6	35,207,451 (GRCm39)	missense	probably benign	0.29
R2267:Nup205	UTSW	6	35,218,284 (GRCm39)	missense	possibly damaging	0.67
R2401:Nup205	UTSW	6	35,185,069 (GRCm39)	nonsense	probably null
R3697:Nup205	UTSW	6	35,165,646 (GRCm39)	missense	probably benign	0.15
R3938:Nup205	UTSW	6	35,196,677 (GRCm39)	missense	probably damaging	1.00
R4074:Nup205	UTSW	6	35,168,975 (GRCm39)	critical splice donor site	probably null
R4117:Nup205	UTSW	6	35,217,947 (GRCm39)	nonsense	probably null
R4364:Nup205	UTSW	6	35,168,962 (GRCm39)	missense	probably benign	0.38
R4366:Nup205	UTSW	6	35,168,962 (GRCm39)	missense	probably benign	0.38
R4594:Nup205	UTSW	6	35,173,424 (GRCm39)	missense	probably benign	0.00
R4706:Nup205	UTSW	6	35,178,943 (GRCm39)	missense	probably damaging	1.00
R4787:Nup205	UTSW	6	35,178,996 (GRCm39)	missense	probably damaging	1.00
R4849:Nup205	UTSW	6	35,207,505 (GRCm39)	missense	possibly damaging	0.90
R4850:Nup205	UTSW	6	35,207,465 (GRCm39)	missense	probably benign	0.16
R4943:Nup205	UTSW	6	35,201,574 (GRCm39)	missense	probably damaging	1.00
R4966:Nup205	UTSW	6	35,220,784 (GRCm39)	missense	probably benign	0.00
R5138:Nup205	UTSW	6	35,202,801 (GRCm39)	missense	probably damaging	1.00
R5251:Nup205	UTSW	6	35,173,417 (GRCm39)	splice site	probably null
R5444:Nup205	UTSW	6	35,166,124 (GRCm39)	missense	probably damaging	0.98
R5760:Nup205	UTSW	6	35,224,278 (GRCm39)	missense	probably damaging	1.00
R5762:Nup205	UTSW	6	35,207,483 (GRCm39)	missense	probably damaging	0.96
R5762:Nup205	UTSW	6	35,204,615 (GRCm39)	missense	probably damaging	1.00
R5941:Nup205	UTSW	6	35,209,343 (GRCm39)	missense	probably damaging	0.98
R5969:Nup205	UTSW	6	35,154,513 (GRCm39)	unclassified	probably benign
R6003:Nup205	UTSW	6	35,189,751 (GRCm39)	missense	probably benign
R6178:Nup205	UTSW	6	35,220,778 (GRCm39)	missense	possibly damaging	0.85
R6315:Nup205	UTSW	6	35,213,804 (GRCm39)	missense	probably damaging	1.00
R6392:Nup205	UTSW	6	35,166,820 (GRCm39)	missense	possibly damaging	0.80
R6710:Nup205	UTSW	6	35,224,308 (GRCm39)	missense	probably benign	0.00
R6954:Nup205	UTSW	6	35,185,044 (GRCm39)	missense	possibly damaging	0.94
R7022:Nup205	UTSW	6	35,220,871 (GRCm39)	missense	probably benign	0.45
R7041:Nup205	UTSW	6	35,201,470 (GRCm39)	missense	possibly damaging	0.49
R7052:Nup205	UTSW	6	35,192,077 (GRCm39)	missense	possibly damaging	0.81
R7310:Nup205	UTSW	6	35,202,904 (GRCm39)	missense	possibly damaging	0.78
R7399:Nup205	UTSW	6	35,191,611 (GRCm39)	missense	probably damaging	0.99
R7428:Nup205	UTSW	6	35,204,494 (GRCm39)	missense	probably damaging	1.00
R7553:Nup205	UTSW	6	35,178,934 (GRCm39)	missense	probably damaging	1.00
R7665:Nup205	UTSW	6	35,154,555 (GRCm39)	missense	possibly damaging	0.46
R7841:Nup205	UTSW	6	35,224,372 (GRCm39)	missense	unknown
R7930:Nup205	UTSW	6	35,171,511 (GRCm39)	missense	probably damaging	0.98
R7973:Nup205	UTSW	6	35,222,274 (GRCm39)	missense	probably benign
R7976:Nup205	UTSW	6	35,175,888 (GRCm39)	missense	probably damaging	1.00
R8073:Nup205	UTSW	6	35,179,104 (GRCm39)	critical splice donor site	probably null
R8080:Nup205	UTSW	6	35,204,311 (GRCm39)	missense	probably damaging	1.00
R8118:Nup205	UTSW	6	35,207,451 (GRCm39)	missense	probably benign	0.29
R8213:Nup205	UTSW	6	35,202,138 (GRCm39)	missense	probably benign	0.26
R8237:Nup205	UTSW	6	35,204,438 (GRCm39)	missense	possibly damaging	0.89
R8408:Nup205	UTSW	6	35,202,182 (GRCm39)	missense	probably damaging	1.00
R8807:Nup205	UTSW	6	35,160,904 (GRCm39)	missense	probably damaging	1.00
R8812:Nup205	UTSW	6	35,191,269 (GRCm39)	missense	probably damaging	1.00
R9061:Nup205	UTSW	6	35,196,808 (GRCm39)	intron	probably benign
R9261:Nup205	UTSW	6	35,176,792 (GRCm39)	missense	probably benign	0.00
R9403:Nup205	UTSW	6	35,176,909 (GRCm39)	missense	probably benign	0.45
R9648:Nup205	UTSW	6	35,202,746 (GRCm39)	missense	probably benign	0.00
R9744:Nup205	UTSW	6	35,209,510 (GRCm39)	missense	probably damaging	0.99
R9800:Nup205	UTSW	6	35,163,468 (GRCm39)	missense	possibly damaging	0.85
Z1177:Nup205	UTSW	6	35,185,728 (GRCm39)	critical splice acceptor site	probably null
Z1177:Nup205	UTSW	6	35,154,540 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGTTTTGGTAGCCATCCAC -3'
(R):5'- CTGCACTGTTAGCACAAATCC -3'

Sequencing Primer
(F):5'- TGGTAGCCATCCACATATTAAGGC -3'
(R):5'- TGTTAGCACAAATCCCCAAATG -3'

Posted On

2019-09-13