Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01123:Pom121'

51152

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 #

IGL01123

Quality Score

Status

Chromosome

Chromosomal Location

135404995-135423400 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135420560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 287 (V287D)

Ref Sequence

ENSEMBL: ENSMUSP00000106801 (fasta)

Gene Model

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

AlphaFold

Q8K3Z9

Predicted Effect

unknown
Transcript: ENSMUST00000111171
AA Change: V287D

SMART Domains

Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293
AA Change: V287D

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	T	10: 28,849,934 (GRCm39)	D167E	probably damaging	Het
Aadat	A	T	8: 60,979,648 (GRCm39)	E170V	probably benign	Het
Acsf2	T	C	11: 94,461,276 (GRCm39)	E300G	probably benign	Het
Agbl3	C	T	6: 34,823,911 (GRCm39)	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,665,118 (GRCm39)		probably benign	Het
Arhgef40	C	A	14: 52,231,803 (GRCm39)	Q730K	probably damaging	Het
Armc3	C	T	2: 19,206,616 (GRCm39)	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,786,490 (GRCm39)	T233S	probably benign	Het
Bnc1	G	A	7: 81,623,455 (GRCm39)	Q591*	probably null	Het
Bsn	A	T	9: 107,993,185 (GRCm39)	F856I	probably damaging	Het
CK137956	T	A	4: 127,829,643 (GRCm39)	T558S	probably benign	Het
Coq8b	G	A	7: 26,939,509 (GRCm39)	V180I	probably damaging	Het
Csmd1	A	T	8: 17,584,944 (GRCm39)	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,496,152 (GRCm39)	S769P	possibly damaging	Het
Diras1	T	A	10: 80,858,249 (GRCm39)	M1L	probably damaging	Het
Fam161b	A	G	12: 84,404,438 (GRCm39)	W81R	probably benign	Het
Fat4	A	T	3: 39,011,418 (GRCm39)	I2173L	probably benign	Het
Fbn2	T	C	18: 58,237,153 (GRCm39)	T617A	possibly damaging	Het
Gabrq	G	A	X: 71,880,439 (GRCm39)	D311N	probably benign	Het
Isl2	G	T	9: 55,452,746 (GRCm39)	G335C	probably damaging	Het
Kbtbd7	T	C	14: 79,666,052 (GRCm39)	V628A	probably damaging	Het
Kmt2d	T	C	15: 98,735,029 (GRCm39)	M5378V	unknown	Het
Lrrc23	G	T	6: 124,755,782 (GRCm39)	D75E	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Matn1	T	C	4: 130,677,322 (GRCm39)	I177T	possibly damaging	Het
Mtor	T	C	4: 148,537,494 (GRCm39)	S60P	probably benign	Het
Naip6	T	C	13: 100,440,946 (GRCm39)	E278G	probably benign	Het
Nsun6	T	C	2: 15,053,789 (GRCm39)	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,887,076 (GRCm39)	S492T	probably benign	Het
Pakap	C	T	4: 57,757,627 (GRCm39)	Q188*	probably null	Het
Ptprq	A	T	10: 107,522,079 (GRCm39)	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,024,222 (GRCm39)	T178A	probably benign	Het
Pygm	A	G	19: 6,441,424 (GRCm39)	N473S	probably benign	Het
Ros1	A	T	10: 51,996,905 (GRCm39)	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,832,154 (GRCm39)	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,660,265 (GRCm39)	S6P	possibly damaging	Het
Sgca	T	A	11: 94,863,113 (GRCm39)	Q80L	probably damaging	Het
Skint6	A	G	4: 112,661,879 (GRCm39)	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 131,898,736 (GRCm39)	N600K	probably benign	Het
Spata20	T	C	11: 94,374,221 (GRCm39)	T350A	probably benign	Het
Syne1	G	T	10: 5,294,921 (GRCm39)	Y1227*	probably null	Het
Unc13c	T	C	9: 73,840,479 (GRCm39)	Y124C	probably benign	Het
Usp40	G	A	1: 87,913,845 (GRCm39)	T416I	probably benign	Het
Vmn1r200	T	C	13: 22,579,571 (GRCm39)	W116R	probably benign	Het
Vps4a	T	C	8: 107,765,851 (GRCm39)		probably benign	Het
Zfyve16	A	G	13: 92,629,030 (GRCm39)	V1469A	probably damaging	Het

Other mutations in Pom121

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Pom121	APN	5	135,421,389 (GRCm39)	splice site	probably benign
IGL01611:Pom121	APN	5	135,412,526 (GRCm39)	missense	unknown
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

2013-06-21