Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02499:Gm128'

295967

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm128

Ensembl Gene

ENSMUSG00000068860

Gene Name

predicted gene 128

Synonyms

Ment, LOC229588, Pmis1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02499

Quality Score

Status

Chromosome

Chromosomal Location

95144231-95148909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95147992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 101 (S101P)

Ref Sequence

ENSEMBL: ENSMUSP00000102815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053872] [ENSMUST00000090815] [ENSMUST00000098871] [ENSMUST00000107195] [ENSMUST00000107197] [ENSMUST00000125515] [ENSMUST00000137250]

AlphaFold

Q569E4

Predicted Effect

probably benign
Transcript: ENSMUST00000053872

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090815
AA Change: S101P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088324
Gene: ENSMUSG00000068860
AA Change: S101P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PMSI1	23	345	3.1e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098871

SMART Domains

Protein: ENSMUSP00000096468
Gene: ENSMUSG00000028115

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
Pfam:BNIP2	48	178	4.5e-38	PFAM
Pfam:CRAL_TRIO_2	162	273	7.7e-16	PFAM
Pfam:CRAL_TRIO	196	263	3.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107195

SMART Domains

Protein: ENSMUSP00000102813
Gene: ENSMUSG00000028115

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	50	62	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
SEC14	193	348	7.89e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107197
AA Change: S101P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102815
Gene: ENSMUSG00000068860
AA Change: S101P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PMSI1	23	130	1.8e-32	PFAM
Pfam:PMSI1	121	184	1.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125515

SMART Domains

Protein: ENSMUSP00000120545
Gene: ENSMUSG00000028115

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
Pfam:BNIP2	48	178	3.7e-38	PFAM
Pfam:CRAL_TRIO_2	168	259	7.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137250

SMART Domains

Protein: ENSMUSP00000115197
Gene: ENSMUSG00000028115

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
low complexity region	76	89	N/A	INTRINSIC
SEC14	165	320	7.89e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176070

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a proto-oncogene whose promoter is methylated by DNA methyltransferase 3B (DNMT3B), which represses the proto-oncogene. However, a catalytically inactive isoform of DNMT3B is overexpressed in lymphomas, leading to hypomethylation of the proto-oncogene's promoter and derepression of the proto-oncogene. [provided by RefSeq, Sep 2016]
PHENOTYPE: A targeted mutation results in slightly decreased fertilization rates for males, although normal litter sizes are produced. Phenotypic analysis of mice homozygous for a gene trap allele indicates no notable phenotype in any parameter tested. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abcb1a	A	G	5: 8,776,807 (GRCm39)	N835S	possibly damaging	Het
Abr	A	T	11: 76,399,916 (GRCm39)	F27Y	probably benign	Het
Adam5	C	T	8: 25,271,581 (GRCm39)		probably null	Het
Alas1	A	T	9: 106,118,520 (GRCm39)	Y201N	probably damaging	Het
Aldoart1	T	A	4: 72,770,476 (GRCm39)	R111W	possibly damaging	Het
Arhgef25	A	G	10: 127,021,460 (GRCm39)	Y253H	probably damaging	Het
Arhgef28	G	T	13: 98,090,291 (GRCm39)	A1076E	possibly damaging	Het
Baz2b	C	T	2: 59,731,840 (GRCm39)	R2066K	possibly damaging	Het
Bdh1	G	T	16: 31,256,866 (GRCm39)	R5L	possibly damaging	Het
Brap	A	G	5: 121,817,934 (GRCm39)	Y358C	probably damaging	Het
Cad	T	C	5: 31,226,948 (GRCm39)	V1235A	probably damaging	Het
Cadps	G	T	14: 12,822,725 (GRCm38)	S5*	probably null	Het
Cd200r2	A	G	16: 44,734,948 (GRCm39)	T220A	possibly damaging	Het
Cd209e	T	A	8: 3,904,238 (GRCm39)	M6L	probably benign	Het
Cdh23	G	T	10: 60,220,958 (GRCm39)	T1265K	probably damaging	Het
Clec16a	T	C	16: 10,512,540 (GRCm39)	S828P	probably benign	Het
Dao	A	G	5: 114,152,002 (GRCm39)	K107E	possibly damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dvl1	T	C	4: 155,939,237 (GRCm39)	I250T	probably benign	Het
Dzip3	A	C	16: 48,754,213 (GRCm39)	L945V	probably damaging	Het
Gphn	T	C	12: 78,539,074 (GRCm39)	L240P	probably benign	Het
Hecw2	A	G	1: 53,965,647 (GRCm39)	I393T	probably benign	Het
Iigp1c	T	C	18: 60,378,710 (GRCm39)	S82P	probably damaging	Het
Kat14	A	G	2: 144,235,751 (GRCm39)	E161G	probably benign	Het
Kcne3	A	C	7: 99,833,610 (GRCm39)	I76L	probably benign	Het
Kcnk18	A	T	19: 59,223,614 (GRCm39)	Q253L	probably benign	Het
Kmt2a	T	C	9: 44,741,806 (GRCm39)		probably benign	Het
Lrrc73	A	G	17: 46,567,915 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,296,056 (GRCm39)	S2993P	possibly damaging	Het
Mto1	T	A	9: 78,368,794 (GRCm39)		probably benign	Het
Myo9a	T	A	9: 59,722,669 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,467,342 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,566,885 (GRCm39)	T587A	probably benign	Het
Nemf	T	A	12: 69,368,903 (GRCm39)	I771F	probably damaging	Het
Or10k2	T	A	8: 84,267,812 (GRCm39)	V13D	possibly damaging	Het
Or5k16	A	G	16: 58,736,614 (GRCm39)	L130P	probably damaging	Het
Or8c10	A	T	9: 38,278,977 (GRCm39)	Y45F	probably benign	Het
Papln	T	C	12: 83,827,445 (GRCm39)	V761A	probably benign	Het
Pask	A	T	1: 93,248,817 (GRCm39)	L861*	probably null	Het
Pcdh18	T	A	3: 49,707,896 (GRCm39)	R859S	probably benign	Het
Ppip5k1	C	T	2: 121,162,034 (GRCm39)		probably null	Het
Ptprs	A	G	17: 56,744,884 (GRCm39)	V284A	probably damaging	Het
Rasgrp4	A	T	7: 28,850,928 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,271 (GRCm39)	I614V	probably benign	Het
Sec23ip	T	C	7: 128,378,640 (GRCm39)	I818T	probably damaging	Het
Skint11	G	A	4: 114,051,801 (GRCm39)	A50T	probably benign	Het
Sqor	T	A	2: 122,650,007 (GRCm39)	M417K	possibly damaging	Het
Tbc1d24	T	C	17: 24,426,593 (GRCm39)		probably null	Het
Tbc1d8b	A	T	X: 138,613,173 (GRCm39)	D333V	probably damaging	Het
Tbx2	T	C	11: 85,731,739 (GRCm39)	S679P	possibly damaging	Het
Thbs2	A	G	17: 14,904,328 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,689,795 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,493,568 (GRCm39)	I126N	probably damaging	Het
Zbtb10	G	T	3: 9,316,800 (GRCm39)	G204V	probably damaging	Het
Zfp426	A	C	9: 20,384,414 (GRCm39)		probably benign	Het

Other mutations in Gm128

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Gm128	APN	3	95,148,094 (GRCm39)	missense	possibly damaging	0.60
R1033:Gm128	UTSW	3	95,147,322 (GRCm39)	missense	possibly damaging	0.51
R2051:Gm128	UTSW	3	95,148,051 (GRCm39)	missense	possibly damaging	0.92
R2240:Gm128	UTSW	3	95,148,243 (GRCm39)	missense	probably benign	0.00
R2347:Gm128	UTSW	3	95,148,241 (GRCm39)	missense	probably benign	0.02
R2513:Gm128	UTSW	3	95,147,293 (GRCm39)	missense	possibly damaging	0.95
R4163:Gm128	UTSW	3	95,147,802 (GRCm39)	missense	probably benign	0.06
R4550:Gm128	UTSW	3	95,147,472 (GRCm39)	missense	possibly damaging	0.92
R6912:Gm128	UTSW	3	95,147,740 (GRCm39)	missense	probably benign	0.32
R7359:Gm128	UTSW	3	95,147,934 (GRCm39)	missense	probably benign	0.11
R7418:Gm128	UTSW	3	95,147,878 (GRCm39)	missense	possibly damaging	0.71

Posted On

2015-04-16