Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01611:Pom121'

92103

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pom121

Ensembl Gene

ENSMUSG00000053293

Gene Name

nuclear pore membrane protein 121

Synonyms

2610027A18Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01611

Quality Score

Status

Chromosome

Chromosomal Location

135404995-135423400 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135412526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 516 (K516E)

Ref Sequence

ENSEMBL: ENSMUSP00000106801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111171]

AlphaFold

Q8K3Z9

Predicted Effect

unknown
Transcript: ENSMUST00000111171
AA Change: K516E

SMART Domains

Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293
AA Change: K516E

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
low complexity region	147	165	N/A	INTRINSIC
low complexity region	174	188	N/A	INTRINSIC
Pfam:POM121	292	527	1.3e-111	PFAM
low complexity region	541	551	N/A	INTRINSIC
low complexity region	552	576	N/A	INTRINSIC
low complexity region	581	602	N/A	INTRINSIC
low complexity region	605	621	N/A	INTRINSIC
low complexity region	658	674	N/A	INTRINSIC
low complexity region	681	699	N/A	INTRINSIC
low complexity region	715	742	N/A	INTRINSIC
low complexity region	767	776	N/A	INTRINSIC
low complexity region	782	800	N/A	INTRINSIC
low complexity region	809	825	N/A	INTRINSIC
internal_repeat_4	827	861	8.15e-5	PROSPERO
low complexity region	874	904	N/A	INTRINSIC
internal_repeat_3	905	952	5.01e-5	PROSPERO
internal_repeat_1	917	961	1.66e-6	PROSPERO
low complexity region	963	979	N/A	INTRINSIC
low complexity region	1002	1048	N/A	INTRINSIC
low complexity region	1050	1099	N/A	INTRINSIC
internal_repeat_2	1104	1144	4.39e-6	PROSPERO
internal_repeat_1	1114	1155	1.66e-6	PROSPERO
internal_repeat_4	1125	1164	8.15e-5	PROSPERO
internal_repeat_3	1126	1175	5.01e-5	PROSPERO
internal_repeat_2	1142	1178	4.39e-6	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184259

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,954,644 (GRCm39)	L209S	possibly damaging	Het
Abcc2	G	T	19: 43,815,068 (GRCm39)	V1152F	probably damaging	Het
Adam9	C	T	8: 25,457,212 (GRCm39)	V639I	probably benign	Het
Cdc6	A	G	11: 98,805,989 (GRCm39)	I388V	probably benign	Het
Chrm5	C	T	2: 112,310,651 (GRCm39)	W155*	probably null	Het
Chrna9	A	G	5: 66,128,287 (GRCm39)	D161G	probably damaging	Het
Det1	A	G	7: 78,477,702 (GRCm39)	V541A	possibly damaging	Het
Efhc1	G	T	1: 21,060,911 (GRCm39)	*649L	probably null	Het
Ehbp1	C	T	11: 22,122,883 (GRCm39)	V146M	probably damaging	Het
Enam	A	C	5: 88,651,608 (GRCm39)	D1039A	probably damaging	Het
Fam20b	A	T	1: 156,530,035 (GRCm39)	V133E	probably benign	Het
Frem2	T	A	3: 53,563,130 (GRCm39)	Q459L	probably benign	Het
Gapdhs	C	T	7: 30,429,866 (GRCm39)		probably benign	Het
Gm3404	T	A	5: 146,465,157 (GRCm39)	V299D	possibly damaging	Het
Gorasp2	C	A	2: 70,519,604 (GRCm39)	H310N	possibly damaging	Het
Gpr157	T	C	4: 150,186,094 (GRCm39)	S219P	possibly damaging	Het
Gpt2	T	A	8: 86,246,167 (GRCm39)	C375*	probably null	Het
Gtf2h3	T	C	5: 124,733,748 (GRCm39)	S274P	probably damaging	Het
Hmg20b	C	T	10: 81,183,309 (GRCm39)	V83M	probably benign	Het
Igf2r	G	T	17: 12,944,302 (GRCm39)	Y400*	probably null	Het
Ipo9	A	T	1: 135,314,431 (GRCm39)	W942R	possibly damaging	Het
Iqch	T	C	9: 63,403,519 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,383 (GRCm39)	L393P	probably benign	Het
Kcnk12	T	A	17: 88,104,495 (GRCm39)	I130L	probably benign	Het
Lcorl	T	C	5: 45,904,434 (GRCm39)	T205A	probably damaging	Het
Lpar6	G	T	14: 73,476,878 (GRCm39)	A280S	probably damaging	Het
Mgarp	A	T	3: 51,296,570 (GRCm39)	V152E	probably damaging	Het
Pard3b	A	G	1: 62,677,021 (GRCm39)	D1184G	probably damaging	Het
Pcnt	A	G	10: 76,272,258 (GRCm39)		probably null	Het
Pde6b	A	G	5: 108,551,262 (GRCm39)	N182S	possibly damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptpn18	T	C	1: 34,498,898 (GRCm39)		probably benign	Het
Rapgef5	C	T	12: 117,717,154 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,606,202 (GRCm39)	L4460S	possibly damaging	Het
Sema6b	T	C	17: 56,436,969 (GRCm39)		probably null	Het
Serpinb6d	T	A	13: 33,850,375 (GRCm39)	C67*	probably null	Het
Sorbs2	T	G	8: 46,248,381 (GRCm39)	V510G	probably null	Het
Spic	T	A	10: 88,511,864 (GRCm39)	I131F	possibly damaging	Het
Spire2	T	C	8: 124,086,137 (GRCm39)	S290P	probably damaging	Het
Tas2r117	C	T	6: 132,780,447 (GRCm39)	S195F	probably benign	Het
Tas2r117	T	C	6: 132,780,450 (GRCm39)	V196A	probably damaging	Het
Tff1	C	T	17: 31,381,703 (GRCm39)	G58D	probably damaging	Het
Tmprss11g	T	C	5: 86,638,640 (GRCm39)	T283A	probably benign	Het
Toporsl	T	A	4: 52,610,794 (GRCm39)	L229H	probably damaging	Het
Vmn2r80	G	A	10: 79,007,488 (GRCm39)	G488D	probably damaging	Het
Vps54	T	A	11: 21,261,082 (GRCm39)	V583D	probably damaging	Het
Vwa1	T	C	4: 155,855,255 (GRCm39)	E286G	possibly damaging	Het
Vwde	A	T	6: 13,219,977 (GRCm39)	I58N	probably damaging	Het
Zbtb11	T	C	16: 55,800,973 (GRCm39)	V109A	probably damaging	Het
Zfp319	C	T	8: 96,055,540 (GRCm39)	R221Q	probably benign	Het

Other mutations in Pom121

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Pom121	APN	5	135,420,560 (GRCm39)	missense	unknown
IGL01537:Pom121	APN	5	135,421,389 (GRCm39)	splice site	probably benign
IGL01803:Pom121	APN	5	135,410,463 (GRCm39)	unclassified	probably benign
IGL02666:Pom121	APN	5	135,415,686 (GRCm39)	missense	unknown
IGL03382:Pom121	APN	5	135,421,261 (GRCm39)	missense	unknown
IGL03134:Pom121	UTSW	5	135,410,935 (GRCm39)	missense	unknown
R0511:Pom121	UTSW	5	135,410,686 (GRCm39)	missense	unknown
R1935:Pom121	UTSW	5	135,412,740 (GRCm39)	missense	unknown
R1967:Pom121	UTSW	5	135,420,608 (GRCm39)	missense	unknown
R2024:Pom121	UTSW	5	135,410,404 (GRCm39)	unclassified	probably benign
R4082:Pom121	UTSW	5	135,417,491 (GRCm39)	missense	unknown
R4477:Pom121	UTSW	5	135,410,842 (GRCm39)	missense	unknown
R5655:Pom121	UTSW	5	135,421,171 (GRCm39)	missense	unknown
R6460:Pom121	UTSW	5	135,420,537 (GRCm39)	missense	unknown
R6807:Pom121	UTSW	5	135,409,978 (GRCm39)	unclassified	probably benign
R6914:Pom121	UTSW	5	135,407,011 (GRCm39)	missense	probably damaging	1.00
R7272:Pom121	UTSW	5	135,409,941 (GRCm39)	missense	unknown
R7726:Pom121	UTSW	5	135,407,002 (GRCm39)	missense	probably damaging	1.00
R7886:Pom121	UTSW	5	135,410,848 (GRCm39)	missense	unknown
R7956:Pom121	UTSW	5	135,412,815 (GRCm39)	missense	unknown
R8356:Pom121	UTSW	5	135,410,032 (GRCm39)	missense	unknown
R8456:Pom121	UTSW	5	135,410,032 (GRCm39)	missense	unknown
R8503:Pom121	UTSW	5	135,410,398 (GRCm39)	missense	unknown
R9776:Pom121	UTSW	5	135,420,554 (GRCm39)	missense	unknown

Posted On

2013-12-09