Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03134:Pom121'

453156

Institutional Source

Beutler Lab

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 #

IGL03134 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

135404995-135423400 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135410935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 741 (P741S)

Ref Sequence

ENSEMBL: ENSMUSP00000106801 (fasta)

Gene Model

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

AlphaFold

Q8K3Z9

Predicted Effect

unknown
Transcript: ENSMUST00000065638
AA Change: P740S

SMART Domains

Protein: ENSMUSP00000064466
Gene: ENSMUSG00000053293
AA Change: P740S

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	291	527	7e-104	PFAM
low complexity region	540	550	N/A	INTRINSIC
low complexity region	551	575	N/A	INTRINSIC
low complexity region	580	601	N/A	INTRINSIC
low complexity region	604	620	N/A	INTRINSIC
low complexity region	657	673	N/A	INTRINSIC
low complexity region	680	698	N/A	INTRINSIC
low complexity region	714	741	N/A	INTRINSIC
low complexity region	766	775	N/A	INTRINSIC
low complexity region	781	799	N/A	INTRINSIC
low complexity region	808	824	N/A	INTRINSIC
internal_repeat_4	826	860	7.23e-5	PROSPERO
low complexity region	873	903	N/A	INTRINSIC
internal_repeat_3	904	951	4.43e-5	PROSPERO
internal_repeat_1	916	960	1.44e-6	PROSPERO
low complexity region	962	978	N/A	INTRINSIC
low complexity region	1001	1047	N/A	INTRINSIC
low complexity region	1049	1098	N/A	INTRINSIC
internal_repeat_2	1103	1143	3.83e-6	PROSPERO
internal_repeat_1	1113	1154	1.44e-6	PROSPERO
internal_repeat_4	1124	1163	7.23e-5	PROSPERO
internal_repeat_3	1125	1174	4.43e-5	PROSPERO
internal_repeat_2	1141	1177	3.83e-6	PROSPERO

Predicted Effect

unknown
Transcript: ENSMUST00000111171
AA Change: P741S

SMART Domains

Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293
AA Change: P741S

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414J04Rik	A	T	11: 21,457,249 (GRCm39)		noncoding transcript	Het
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Afdn	C	T	17: 14,066,548 (GRCm39)	T580I	probably benign	Het
Ankfy1	G	T	11: 72,603,011 (GRCm39)	L13F	probably damaging	Het
Arhgap12	T	C	18: 6,111,936 (GRCm39)	T143A	probably benign	Het
Arsi	T	G	18: 61,050,424 (GRCm39)	W436G	probably damaging	Het
Bcl2l10	C	T	9: 75,255,480 (GRCm39)	T99M	probably damaging	Het
Cacna1a	A	G	8: 85,285,716 (GRCm39)	Q740R	probably damaging	Het
Cacna1g	A	G	11: 94,350,651 (GRCm39)	F398S	probably damaging	Het
Ccrl2	A	C	9: 110,884,725 (GRCm39)	Y258D	probably damaging	Het
Cemip	T	A	7: 83,648,445 (GRCm39)	D38V	probably damaging	Het
Chd6	C	G	2: 160,807,403 (GRCm39)	C1937S	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Col1a2	T	G	6: 4,521,387 (GRCm39)		probably benign	Het
Col4a1	T	C	8: 11,290,069 (GRCm39)		probably null	Het
Cops7b	T	A	1: 86,520,056 (GRCm39)	L69Q	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Ddx3y	T	A	Y: 1,278,949 (GRCm39)	D163V	possibly damaging	Het
Dnajc19	A	G	3: 34,132,884 (GRCm39)		probably benign	Het
Fhip2b	T	C	14: 70,826,149 (GRCm39)	T288A	possibly damaging	Het
G2e3	T	A	12: 51,410,813 (GRCm39)		probably benign	Het
Gimap7	A	G	6: 48,700,435 (GRCm39)	N7S	probably benign	Het
Gkap1	G	A	13: 58,411,746 (GRCm39)		probably benign	Het
Gm3404	G	A	5: 146,463,706 (GRCm39)	R117Q	probably benign	Het
Herc1	T	TN	9: 66,341,345 (GRCm39)		probably benign	Homo
Homer3	T	C	8: 70,738,985 (GRCm39)	Y115H	probably benign	Het
Ighv10-1	T	A	12: 114,442,689 (GRCm39)	M99L	probably benign	Het
Kdm2b	A	C	5: 123,070,737 (GRCm39)	S398R	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mettl25	G	A	10: 105,661,888 (GRCm39)	Q361*	probably null	Het
Mkrn2	T	A	6: 115,590,496 (GRCm39)	I284N	probably damaging	Het
Mmp14	T	A	14: 54,676,563 (GRCm39)	N369K	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Myo6	C	G	9: 80,199,749 (GRCm39)	N1019K	probably damaging	Het
Myo7a	C	T	7: 97,705,974 (GRCm39)	V1857I	probably damaging	Het
Nhsl3	A	G	4: 129,116,280 (GRCm39)	S783P	possibly damaging	Het
Nktr	T	C	9: 121,575,532 (GRCm39)	S347P	probably damaging	Het
Nup210	T	G	6: 91,007,172 (GRCm39)	D548A	probably damaging	Het
Nup210l	A	G	3: 90,098,194 (GRCm39)	Y1382C	possibly damaging	Het
Or14c41	G	A	7: 86,235,220 (GRCm39)	V246M	probably damaging	Het
Or1e23	T	A	11: 73,407,941 (GRCm39)	Y28F	probably benign	Het
Pax8	T	C	2: 24,311,403 (GRCm39)		probably benign	Het
Pcdhgb7	A	G	18: 37,884,935 (GRCm39)	Y35C	probably damaging	Het
Pld1	A	T	3: 28,083,316 (GRCm39)	R145S	probably benign	Het
Rarb	T	C	14: 16,436,910 (GRCm38)	N204D	probably damaging	Het
Sdc3	A	G	4: 130,548,815 (GRCm39)	E337G	probably benign	Het
Serpina9	T	C	12: 103,967,696 (GRCm39)	K233R	probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,427,999 (GRCm39)	M159K	probably benign	Het
Stxbp4	C	A	11: 90,498,010 (GRCm39)	R96S	probably damaging	Het
Tg	A	C	15: 66,612,567 (GRCm39)	E375A	probably damaging	Het
Tmem176b	A	G	6: 48,815,287 (GRCm39)	V2A	probably benign	Het
Toporsl	G	A	4: 52,610,281 (GRCm39)	C58Y	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Vav3	T	C	3: 109,470,410 (GRCm39)		probably benign	Het
Zfp180	T	A	7: 23,804,170 (GRCm39)	D196E	possibly damaging	Het
Zfp407	C	T	18: 84,228,080 (GRCm39)	S1843N	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCACTCCAAAGCCAAAG -3'
(R):5'- GTTTGGGATGCTGAGTCCAC -3'

Sequencing Primer
(F):5'- CAGGCTTTGAGGCAGAAGCTG -3'
(R):5'- ATGCTGAGTCCACCTGCCAG -3'

Posted On

2017-01-30