Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02617:Niban1'

300711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Niban1

Ensembl Gene

ENSMUSG00000026483

Gene Name

niban apoptosis regulator 1

Synonyms

Fam129a, Niban

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02617

Quality Score

Status

Chromosome

Chromosomal Location

151447124-151596791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151447296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 6 (S6T)

Ref Sequence

ENSEMBL: ENSMUSP00000115822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097541] [ENSMUST00000111875] [ENSMUST00000134499] [ENSMUST00000148810]

AlphaFold

Q3UW53

Predicted Effect

probably benign
Transcript: ENSMUST00000097541
AA Change: S6T

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: S6T

Domain	Start	End	E-Value	Type
Blast:PH	70	197	2e-83	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000111875
AA Change: S6T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107506
Gene: ENSMUSG00000026483
AA Change: S6T

Domain	Start	End	E-Value	Type
Blast:PH	70	197	6e-86	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000134499
AA Change: S6T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000115692
Gene: ENSMUSG00000026483
AA Change: S6T

Domain	Start	End	E-Value	Type
SCOP:d1faoa_	67	114	5e-3	SMART
Blast:PH	70	114	3e-23	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148810
AA Change: S6T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: S6T

Domain	Start	End	E-Value	Type
SCOP:d1faoa_	67	118	1e-2	SMART
Blast:PH	70	197	1e-80	BLAST
low complexity region	540	549	N/A	INTRINSIC
low complexity region	699	714	N/A	INTRINSIC
low complexity region	784	797	N/A	INTRINSIC

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 encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no overt phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,394,807 (GRCm39)	Q172*	probably null	Het
Adgrg5	A	G	8: 95,660,610 (GRCm39)	D79G	probably benign	Het
Aga	G	A	8: 53,973,348 (GRCm39)	D249N	possibly damaging	Het
Aifm3	A	G	16: 17,318,397 (GRCm39)	Q170R	probably null	Het
Cdh2	T	A	18: 16,760,661 (GRCm39)	N512Y	probably damaging	Het
Chd8	A	G	14: 52,472,648 (GRCm39)	I385T	probably benign	Het
Clic6	A	G	16: 92,296,206 (GRCm39)	K289E	probably benign	Het
Ctcf	G	T	8: 106,403,842 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,488,628 (GRCm39)	Y3447H	probably benign	Het
Fhip1a	A	T	3: 85,580,344 (GRCm39)	D620E	probably benign	Het
Fmo2	T	A	1: 162,704,490 (GRCm39)	Q472L	probably damaging	Het
Gcnt3	C	A	9: 69,941,444 (GRCm39)	G375W	probably damaging	Het
Golga3	T	A	5: 110,336,612 (GRCm39)	V417E	probably benign	Het
Hivep3	T	C	4: 119,952,641 (GRCm39)	L319P	probably benign	Het
Kctd13	A	G	7: 126,541,504 (GRCm39)	K248R	possibly damaging	Het
Magel2	G	A	7: 62,029,946 (GRCm39)	R950H	unknown	Het
Nmt2	A	G	2: 3,315,750 (GRCm39)	I247V	probably benign	Het
Or14a256	T	G	7: 86,264,872 (GRCm39)	H327P	probably benign	Het
Or1e30	T	A	11: 73,678,560 (GRCm39)	N265K	probably benign	Het
Pcdhb12	T	C	18: 37,570,099 (GRCm39)	V415A	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prr27	T	A	5: 87,990,518 (GRCm39)	N43K	probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sec24a	A	T	11: 51,603,014 (GRCm39)		probably null	Het
Srek1ip1	C	A	13: 104,973,984 (GRCm39)	H130Q	possibly damaging	Het
Trio	C	T	15: 27,841,935 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,608,614 (GRCm39)		probably benign	Het
Vmn2r65	C	A	7: 84,589,549 (GRCm39)	S789I	probably damaging	Het
Zbtb17	A	G	4: 141,192,399 (GRCm39)	Q448R	probably damaging	Het

Other mutations in Niban1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Niban1	APN	1	151,593,472 (GRCm39)	missense	probably benign	0.06
IGL01690:Niban1	APN	1	151,579,555 (GRCm39)	missense	probably damaging	1.00
IGL01762:Niban1	APN	1	151,512,242 (GRCm39)	missense	probably damaging	1.00
IGL01784:Niban1	APN	1	151,525,116 (GRCm39)	missense	probably damaging	1.00
IGL01938:Niban1	APN	1	151,565,365 (GRCm39)	missense	probably benign	0.22
IGL02427:Niban1	APN	1	151,593,025 (GRCm39)	missense	probably damaging	1.00
IGL02946:Niban1	APN	1	151,525,176 (GRCm39)	missense	probably damaging	0.99
R0242:Niban1	UTSW	1	151,593,967 (GRCm39)	missense	probably benign	0.00
R0242:Niban1	UTSW	1	151,593,967 (GRCm39)	missense	probably benign	0.00
R0279:Niban1	UTSW	1	151,584,957 (GRCm39)	critical splice donor site	probably null
R0421:Niban1	UTSW	1	151,584,833 (GRCm39)	splice site	probably benign
R0531:Niban1	UTSW	1	151,593,835 (GRCm39)	missense	probably benign	0.11
R0725:Niban1	UTSW	1	151,581,766 (GRCm39)	missense	probably benign	0.04
R1493:Niban1	UTSW	1	151,581,841 (GRCm39)	missense	probably damaging	1.00
R1563:Niban1	UTSW	1	151,591,424 (GRCm39)	missense	possibly damaging	0.69
R1868:Niban1	UTSW	1	151,517,302 (GRCm39)	missense	possibly damaging	0.71
R1944:Niban1	UTSW	1	151,571,979 (GRCm39)	missense	probably damaging	0.99
R1945:Niban1	UTSW	1	151,571,979 (GRCm39)	missense	probably damaging	0.99
R2071:Niban1	UTSW	1	151,512,181 (GRCm39)	missense	probably damaging	1.00
R2126:Niban1	UTSW	1	151,584,884 (GRCm39)	missense	possibly damaging	0.94
R2126:Niban1	UTSW	1	151,571,886 (GRCm39)	missense	probably damaging	1.00
R2138:Niban1	UTSW	1	151,572,002 (GRCm39)	missense	probably damaging	0.98
R2180:Niban1	UTSW	1	151,593,829 (GRCm39)	missense	probably benign	0.02
R2402:Niban1	UTSW	1	151,565,365 (GRCm39)	missense	probably benign	0.22
R3689:Niban1	UTSW	1	151,579,447 (GRCm39)	splice site	probably null
R3783:Niban1	UTSW	1	151,565,399 (GRCm39)	missense	possibly damaging	0.66
R3975:Niban1	UTSW	1	151,525,086 (GRCm39)	missense	probably damaging	1.00
R4029:Niban1	UTSW	1	151,571,441 (GRCm39)	missense	probably benign	0.00
R4328:Niban1	UTSW	1	151,512,169 (GRCm39)	missense	possibly damaging	0.86
R4447:Niban1	UTSW	1	151,512,153 (GRCm39)	critical splice acceptor site	probably null
R4573:Niban1	UTSW	1	151,579,517 (GRCm39)	missense	possibly damaging	0.85
R4774:Niban1	UTSW	1	151,591,445 (GRCm39)	missense	probably damaging	1.00
R5064:Niban1	UTSW	1	151,565,410 (GRCm39)	missense	probably benign	0.05
R5077:Niban1	UTSW	1	151,590,274 (GRCm39)	missense	probably benign	0.00
R5187:Niban1	UTSW	1	151,579,580 (GRCm39)	missense	possibly damaging	0.50
R5484:Niban1	UTSW	1	151,593,837 (GRCm39)	missense	probably benign	0.08
R5553:Niban1	UTSW	1	151,592,986 (GRCm39)	missense	probably damaging	0.99
R5572:Niban1	UTSW	1	151,584,941 (GRCm39)	missense	probably benign	0.05
R5575:Niban1	UTSW	1	151,593,991 (GRCm39)	missense	probably benign	0.31
R5586:Niban1	UTSW	1	151,593,307 (GRCm39)	missense	probably benign	0.00
R5697:Niban1	UTSW	1	151,576,012 (GRCm39)	missense	probably damaging	1.00
R6305:Niban1	UTSW	1	151,571,469 (GRCm39)	missense	probably damaging	1.00
R7065:Niban1	UTSW	1	151,575,858 (GRCm39)	critical splice acceptor site	probably null
R7126:Niban1	UTSW	1	151,590,318 (GRCm39)	nonsense	probably null
R7392:Niban1	UTSW	1	151,571,975 (GRCm39)	missense	probably damaging	1.00
R7571:Niban1	UTSW	1	151,594,048 (GRCm39)	missense	probably benign	0.01
R7577:Niban1	UTSW	1	151,594,063 (GRCm39)	missense	probably benign
R7939:Niban1	UTSW	1	151,581,775 (GRCm39)	missense	probably damaging	1.00
R8018:Niban1	UTSW	1	151,593,006 (GRCm39)	nonsense	probably null
R8164:Niban1	UTSW	1	151,593,339 (GRCm39)	missense	probably benign	0.02
R8356:Niban1	UTSW	1	151,571,901 (GRCm39)	missense	probably damaging	1.00
R8478:Niban1	UTSW	1	151,512,263 (GRCm39)	missense	possibly damaging	0.77
R8833:Niban1	UTSW	1	151,520,681 (GRCm39)	missense	probably damaging	1.00
R8847:Niban1	UTSW	1	151,575,929 (GRCm39)	missense	probably damaging	1.00
R8854:Niban1	UTSW	1	151,584,950 (GRCm39)	missense	probably damaging	1.00
R8960:Niban1	UTSW	1	151,591,463 (GRCm39)	missense	possibly damaging	0.92
R9616:Niban1	UTSW	1	151,512,193 (GRCm39)	missense	probably damaging	1.00
R9684:Niban1	UTSW	1	151,593,538 (GRCm39)	missense	possibly damaging	0.87

Posted On

2015-04-16