Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01537:Pom121'

90024

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pom121

Ensembl Gene

ENSMUSG00000053293

Gene Name

nuclear pore membrane protein 121

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01537

Quality Score

Status

Chromosome

Chromosomal Location

135376141-135394546 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 135392535 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106801 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111171

SMART Domains

Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn1l	T	C	8: 109,732,680	R317G	probably benign	Het
B130006D01Rik	T	A	11: 95,726,166		probably benign	Het
Brinp2	T	C	1: 158,246,809	T581A	probably damaging	Het
Cacna1b	A	T	2: 24,658,528	I1179N	probably damaging	Het
Cacnb3	A	G	15: 98,643,420	D434G	probably damaging	Het
Cdh19	T	C	1: 110,919,611	T423A	possibly damaging	Het
Chkb	C	T	15: 89,427,783		probably benign	Het
Cit	T	C	5: 115,933,854	Y623H	probably benign	Het
Clstn3	G	A	6: 124,431,600	R918C	possibly damaging	Het
Dnah2	T	A	11: 69,516,080	M200L	probably benign	Het
Dnah9	T	A	11: 65,947,680	H3097L	probably benign	Het
Dst	T	A	1: 34,275,320	L4217H	probably damaging	Het
Fam107b	T	A	2: 3,778,528	L80Q	probably damaging	Het
Fgfr1	T	A	8: 25,555,579	C55S	probably damaging	Het
Igkv4-71	C	A	6: 69,243,280	G78*	probably null	Het
Igsf10	A	G	3: 59,330,031	S910P	probably benign	Het
Ikzf3	T	C	11: 98,516,892	D41G	probably damaging	Het
Larp1	T	A	11: 58,042,822	I358N	possibly damaging	Het
March5	C	T	19: 37,210,668		probably benign	Het
Mpdz	T	C	4: 81,369,658	T455A	probably damaging	Het
Myo1b	A	G	1: 51,776,351	V612A	possibly damaging	Het
Nipbl	T	C	15: 8,350,539	D923G	probably benign	Het
Nlrp4b	T	C	7: 10,714,991	F7L	probably damaging	Het
Npas4	T	C	19: 4,987,327	N313S	possibly damaging	Het
Nynrin	T	A	14: 55,872,045	N1536K	possibly damaging	Het
Olfr1212	T	C	2: 88,958,541	V25A	probably benign	Het
Olfr535	A	G	7: 140,492,838	N67D	probably damaging	Het
Olfr975	T	A	9: 39,950,625	T49S	probably benign	Het
Papd7	A	T	13: 69,500,559	S693T	probably benign	Het
Pclo	T	C	5: 14,539,633	V649A	unknown	Het
Ptcd2	A	T	13: 99,330,013	I224N	possibly damaging	Het
Rsrp1	C	T	4: 134,923,979	P18L	unknown	Het
Sash1	A	T	10: 8,729,658	N989K	probably damaging	Het
Scn2a	T	A	2: 65,715,875	H927Q	probably benign	Het
Selenoi	G	T	5: 30,256,224	V128F	probably damaging	Het
Slc25a42	T	C	8: 70,189,442	I117V	probably benign	Het
Spata1	A	G	3: 146,489,803		probably benign	Het
Sptlc3	A	T	2: 139,589,695	Y379F	possibly damaging	Het
Tinag	C	T	9: 77,045,603	R33K	probably benign	Het
Trappc8	T	C	18: 20,835,004	D1092G	probably benign	Het
Xntrpc	A	G	7: 102,073,194	E22G	probably damaging	Het
Zbtb7b	A	G	3: 89,379,971	M397T	possibly damaging	Het
Zgpat	A	G	2: 181,378,889	D285G	probably benign	Het

Other mutations in Pom121

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Pom121	APN	5	135391706	missense	unknown
IGL01611:Pom121	APN	5	135383672	missense	unknown
IGL01803:Pom121	APN	5	135381609	unclassified	probably benign
IGL02666:Pom121	APN	5	135386832	missense	unknown
IGL03382:Pom121	APN	5	135392407	missense	unknown
IGL03134:Pom121	UTSW	5	135382081	missense	unknown
R0511:Pom121	UTSW	5	135381832	missense	unknown
R1935:Pom121	UTSW	5	135383886	missense	unknown
R1967:Pom121	UTSW	5	135391754	missense	unknown
R2024:Pom121	UTSW	5	135381550	unclassified	probably benign
R4082:Pom121	UTSW	5	135388637	missense	unknown
R4477:Pom121	UTSW	5	135381988	missense	unknown
R5655:Pom121	UTSW	5	135392317	missense	unknown
R6460:Pom121	UTSW	5	135391683	missense	unknown
R6807:Pom121	UTSW	5	135381124	unclassified	probably benign
R6914:Pom121	UTSW	5	135378157	missense	probably damaging	1.00
R7272:Pom121	UTSW	5	135381087	missense	unknown
R7726:Pom121	UTSW	5	135378148	missense	probably damaging	1.00
R7886:Pom121	UTSW	5	135381994	missense	unknown
R7956:Pom121	UTSW	5	135383961	missense	unknown
R8356:Pom121	UTSW	5	135381178	missense	unknown
R8456:Pom121	UTSW	5	135381178	missense	unknown
R8503:Pom121	UTSW	5	135381544	missense	unknown

Posted On

2013-12-03