Mutagenetix > Incidental Mutation

Incidental Mutation 'R6914:Pom121'

539222

Institutional Source

Beutler Lab

Gene Symbol

Pom121

Ensembl Gene

ENSMUSG00000053293

Gene Name

nuclear pore membrane protein 121

Synonyms

2610027A18Rik

MMRRC Submission

045035-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6914 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135404995-135423400 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135407011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1175 (F1175I)

Ref Sequence

ENSEMBL: ENSMUSP00000106801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000940] [ENSMUST00000111171] [ENSMUST00000170342]

AlphaFold

Q8K3Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000000940

SMART Domains

Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	180	189	N/A	INTRINSIC
Pfam:Nol1_Nop2_Fmu	219	423	1.1e-32	PFAM
low complexity region	448	454	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111171
AA Change: F1175I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293
AA Change: F1175I

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

probably benign
Transcript: ENSMUST00000170342

SMART Domains

Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	76	91	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202422

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,061,298 (GRCm39)	K17*	probably null	Het
Abca6	T	C	11: 110,081,064 (GRCm39)	I1183V	probably benign	Het
Adap2	A	G	11: 80,045,891 (GRCm39)	D57G	probably benign	Het
Atmin	G	T	8: 117,683,452 (GRCm39)	V371F	probably benign	Het
Cacna1h	G	T	17: 25,604,013 (GRCm39)	A1273E	probably benign	Het
Cblb	G	A	16: 51,867,793 (GRCm39)	E134K	probably damaging	Het
Ccdc158	A	G	5: 92,809,929 (GRCm39)	V193A	probably benign	Het
Cnot9	T	A	1: 74,558,154 (GRCm39)	V100E	probably damaging	Het
Cog2	T	A	8: 125,271,875 (GRCm39)	V463D	probably benign	Het
Cracd	A	T	5: 77,004,854 (GRCm39)	Q405L	unknown	Het
Crybg3	C	T	16: 59,360,183 (GRCm39)	R2500H	possibly damaging	Het
Csmd3	C	A	15: 47,874,534 (GRCm39)	R687S	possibly damaging	Het
Derl3	A	G	10: 75,730,050 (GRCm39)		probably null	Het
Dipk1c	A	C	18: 84,748,549 (GRCm39)	Y49S	possibly damaging	Het
Dlc1	T	C	8: 37,405,364 (GRCm39)	K142E	probably benign	Het
Dnai1	T	G	4: 41,625,176 (GRCm39)	M380R	probably benign	Het
Gas7	A	T	11: 67,550,977 (GRCm39)		probably null	Het
Gpt	C	A	15: 76,581,792 (GRCm39)	Q138K	probably benign	Het
Greb1	T	A	12: 16,757,903 (GRCm39)	E748V	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Hecw1	A	C	13: 14,491,423 (GRCm39)	L523R	probably damaging	Het
Hhatl	G	A	9: 121,617,246 (GRCm39)	A329V	probably benign	Het
Homer3	C	T	8: 70,744,201 (GRCm39)	T276I	probably benign	Het
Igdcc4	G	A	9: 65,027,550 (GRCm39)	S204N	probably benign	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Mccc2	C	A	13: 100,126,858 (GRCm39)	D137Y	probably damaging	Het
Nup42	T	A	5: 24,386,082 (GRCm39)	S205T	probably damaging	Het
Pde8b	T	A	13: 95,223,352 (GRCm39)	M301L	probably benign	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Prom2	T	G	2: 127,372,295 (GRCm39)	I723L	possibly damaging	Het
Pth1r	C	T	9: 110,557,084 (GRCm39)		probably null	Het
Samd8	T	C	14: 21,825,221 (GRCm39)	I59T	possibly damaging	Het
Scgb2b18	A	G	7: 32,871,564 (GRCm39)	V85A	possibly damaging	Het
Sema6c	G	T	3: 95,080,519 (GRCm39)	V906L	probably benign	Het
Sipa1l3	T	C	7: 29,085,516 (GRCm39)	T694A	probably damaging	Het
Slc26a2	A	C	18: 61,332,351 (GRCm39)	I360S	probably damaging	Het
Slc8a1	A	G	17: 81,715,549 (GRCm39)	L828P	probably damaging	Het
Spry1	T	A	3: 37,697,193 (GRCm39)	D145E	probably benign	Het
Stat6	A	T	10: 127,487,131 (GRCm39)	N213Y	probably damaging	Het
Tbx20	T	C	9: 24,636,779 (GRCm39)	H436R	probably benign	Het
Tle2	T	C	10: 81,422,190 (GRCm39)	Y411H	probably damaging	Het
Tmem45a	T	C	16: 56,646,145 (GRCm39)	N25S	probably benign	Het
Trip11	T	C	12: 101,812,879 (GRCm39)	N1485S	probably benign	Het
Trrap	T	A	5: 144,720,853 (GRCm39)	I230N	possibly damaging	Het
Vezt	A	T	10: 93,806,313 (GRCm39)	H699Q	probably benign	Het
Vmn1r43	T	A	6: 89,847,319 (GRCm39)	I56F	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTATGGAATTTGAAGGGTCAG -3'
(R):5'- GGAAACTCAAGCCAAGTGCC -3'

Sequencing Primer
(F):5'- AATTTGAAGGGTCAGAGGCTCTTCC -3'
(R):5'- TGAACTTCGCTCCTCTGGAAGAAG -3'

Posted On

2018-11-06