Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02302:Niban2'

287425

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Niban2

Ensembl Gene

ENSMUSG00000026796

Gene Name

niban apoptosis regulator 2

Synonyms

9130404D14Rik, Fam129b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

IGL02302

Quality Score

Status

Chromosome

Chromosomal Location

32766146-32815265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32811135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 382 (I382V)

Ref Sequence

ENSEMBL: ENSMUSP00000028135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000028135] [ENSMUST00000113200]

AlphaFold

Q8R1F1

Predicted Effect

probably benign
Transcript: ENSMUST00000028132

SMART Domains

Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR	103	125	9.3e-1	SMART
LRR	126	148	1.91e1	SMART
LRR	149	171	7.05e-1	SMART
Blast:IlGF	191	321	1e-71	BLAST
low complexity region	322	333	N/A	INTRINSIC
low complexity region	474	493	N/A	INTRINSIC
coiled coil region	500	547	N/A	INTRINSIC
SAM	566	632	2.42e-2	SMART
RING	679	713	3.51e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028135
AA Change: I382V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: I382V

Domain	Start	End	E-Value	Type
PH	69	194	1.81e-2	SMART
low complexity region	594	607	N/A	INTRINSIC
low complexity region	685	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113200

SMART Domains

Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR	103	125	9.3e-1	SMART
LRR	126	148	1.91e1	SMART
LRR	149	171	7.05e-1	SMART
Blast:IlGF	191	321	1e-71	BLAST
low complexity region	322	333	N/A	INTRINSIC
low complexity region	474	493	N/A	INTRINSIC
coiled coil region	500	547	N/A	INTRINSIC
SAM	566	632	2.42e-2	SMART
RING	679	713	3.51e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154514

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,422,257 (GRCm39)	Q211L	possibly damaging	Het
Abca14	T	A	7: 119,917,968 (GRCm39)		probably benign	Het
Abcb10	A	T	8: 124,685,411 (GRCm39)	V543D	possibly damaging	Het
Ankrd17	G	A	5: 90,431,057 (GRCm39)	T909I	probably benign	Het
Arhgef3	A	G	14: 27,084,799 (GRCm39)	N76S	probably benign	Het
Bbx	A	T	16: 50,045,278 (GRCm39)	C320S	probably damaging	Het
Castor2	G	A	5: 134,164,482 (GRCm39)	V148I	possibly damaging	Het
Cdh23	C	A	10: 60,159,302 (GRCm39)	V2159F	possibly damaging	Het
Cmtr2	G	A	8: 110,948,136 (GRCm39)	A149T	probably damaging	Het
Cntnap4	A	G	8: 113,512,535 (GRCm39)		probably benign	Het
Col6a3	A	T	1: 90,709,482 (GRCm39)	F1905I	unknown	Het
Ddx60	A	G	8: 62,428,866 (GRCm39)	Y792C	possibly damaging	Het
Dennd2b	A	G	7: 109,124,538 (GRCm39)	V1101A	probably damaging	Het
Dock4	T	C	12: 40,775,776 (GRCm39)	L573P	probably damaging	Het
Dop1b	A	G	16: 93,607,005 (GRCm39)	I2103V	probably benign	Het
Ear1	T	G	14: 44,056,504 (GRCm39)	Q121H	probably benign	Het
Eprs1	T	A	1: 185,119,321 (GRCm39)		probably benign	Het
Ero1a	T	C	14: 45,530,619 (GRCm39)	K271R	probably benign	Het
Esyt1	A	G	10: 128,348,236 (GRCm39)	L884P	probably damaging	Het
F2r	T	C	13: 95,741,160 (GRCm39)	N125S	probably damaging	Het
Fam217a	T	C	13: 35,095,144 (GRCm39)	E357G	probably damaging	Het
Gabbr1	C	T	17: 37,365,689 (GRCm39)	R123W	probably damaging	Het
Gimap4	T	G	6: 48,667,347 (GRCm39)	V34G	probably damaging	Het
Gm3248	A	T	14: 5,943,011 (GRCm38)	V180E	probably benign	Het
Hecw2	A	T	1: 53,972,407 (GRCm39)	N204K	probably damaging	Het
Ighv1-84	T	A	12: 115,944,549 (GRCm39)	K42*	probably null	Het
Kcnh7	T	A	2: 62,536,402 (GRCm39)	Q1060L	probably damaging	Het
Kif3b	T	A	2: 153,158,868 (GRCm39)	I223N	probably damaging	Het
Lama2	G	A	10: 27,088,039 (GRCm39)	P913S	probably benign	Het
Lgr4	A	G	2: 109,832,841 (GRCm39)	I334M	probably damaging	Het
Lrrc45	G	T	11: 120,609,351 (GRCm39)	E403D	possibly damaging	Het
Mccc2	A	G	13: 100,090,747 (GRCm39)	L462P	probably damaging	Het
Mfsd13b	T	C	7: 120,598,132 (GRCm39)	V346A	probably damaging	Het
Muc6	T	C	7: 141,227,763 (GRCm39)	T1342A	possibly damaging	Het
Mxd3	T	C	13: 55,477,091 (GRCm39)	N56S	probably benign	Het
Ntn5	G	T	7: 45,343,672 (GRCm39)	R337L	probably damaging	Het
Nynrin	A	G	14: 56,105,962 (GRCm39)	K894E	probably benign	Het
Or1j4	G	T	2: 36,740,715 (GRCm39)	G219V	probably benign	Het
Or2a25	T	A	6: 42,889,272 (GRCm39)	Y272N	probably damaging	Het
Or4f56	A	C	2: 111,703,887 (GRCm39)	S104R	possibly damaging	Het
Or7e168	A	T	9: 19,719,981 (GRCm39)	R122S	probably damaging	Het
Pappa2	T	C	1: 158,542,571 (GRCm39)	D1772G	probably benign	Het
Pcdh18	G	T	3: 49,710,387 (GRCm39)	F309L	probably benign	Het
Pcdhac2	G	T	18: 37,279,006 (GRCm39)	R662L	probably damaging	Het
Ppp5c	G	A	7: 16,742,555 (GRCm39)	S261L	possibly damaging	Het
Qng1	G	A	13: 58,529,749 (GRCm39)	R288W	probably damaging	Het
Rc3h1	T	C	1: 160,765,675 (GRCm39)		probably benign	Het
Rfx8	A	C	1: 39,704,682 (GRCm39)	S578A	possibly damaging	Het
Rhbdl3	T	G	11: 80,244,507 (GRCm39)	*405E	probably null	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rnf139	G	T	15: 58,770,606 (GRCm39)	L210F	probably damaging	Het
Rragc	A	G	4: 123,814,879 (GRCm39)	R192G	possibly damaging	Het
Ryr3	A	T	2: 112,794,701 (GRCm39)	V137E	probably damaging	Het
S100pbp	A	T	4: 129,076,234 (GRCm39)	D30E	probably damaging	Het
Smchd1	A	T	17: 71,665,128 (GRCm39)		probably benign	Het
Sppl3	T	A	5: 115,220,390 (GRCm39)	C101S	probably benign	Het
St8sia6	T	C	2: 13,728,324 (GRCm39)	T74A	probably benign	Het
Sult3a1	A	G	10: 33,742,571 (GRCm39)	N66S	possibly damaging	Het
Sv2b	T	A	7: 74,773,947 (GRCm39)	K508M	probably damaging	Het
Terf1	T	C	1: 15,903,626 (GRCm39)	S275P	probably damaging	Het
Tmed8	G	T	12: 87,220,990 (GRCm39)	H199N	probably damaging	Het
Tubg2	A	T	11: 101,046,971 (GRCm39)	Q9L	probably damaging	Het
Ubxn4	C	T	1: 128,183,848 (GRCm39)		probably benign	Het
Usp34	C	T	11: 23,417,243 (GRCm39)	T2964I	possibly damaging	Het
Zfp213	A	G	17: 23,776,945 (GRCm39)	S366P	possibly damaging	Het

Other mutations in Niban2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Niban2	APN	2	32,802,483 (GRCm39)	missense	probably benign	0.04
IGL01072:Niban2	APN	2	32,802,427 (GRCm39)	unclassified	probably benign
IGL01874:Niban2	APN	2	32,795,779 (GRCm39)	critical splice acceptor site	probably null
IGL02681:Niban2	APN	2	32,801,402 (GRCm39)	missense	probably benign	0.05
IGL03126:Niban2	APN	2	32,766,398 (GRCm39)	missense	possibly damaging	0.95
IGL03240:Niban2	APN	2	32,812,109 (GRCm39)	missense	probably benign	0.00
R0125:Niban2	UTSW	2	32,813,833 (GRCm39)	missense	probably benign	0.17
R0948:Niban2	UTSW	2	32,812,872 (GRCm39)	missense	probably damaging	1.00
R1195:Niban2	UTSW	2	32,809,815 (GRCm39)	missense	probably benign
R1195:Niban2	UTSW	2	32,809,815 (GRCm39)	missense	probably benign
R1195:Niban2	UTSW	2	32,809,815 (GRCm39)	missense	probably benign
R2130:Niban2	UTSW	2	32,813,659 (GRCm39)	missense	probably benign	0.34
R2408:Niban2	UTSW	2	32,813,482 (GRCm39)	missense	probably damaging	1.00
R4881:Niban2	UTSW	2	32,812,590 (GRCm39)	nonsense	probably null
R5506:Niban2	UTSW	2	32,810,994 (GRCm39)	missense	probably damaging	0.96
R5748:Niban2	UTSW	2	32,809,581 (GRCm39)	missense	probably damaging	1.00
R5857:Niban2	UTSW	2	32,799,920 (GRCm39)	missense	probably benign	0.28
R6011:Niban2	UTSW	2	32,812,877 (GRCm39)	missense	probably damaging	0.99
R6088:Niban2	UTSW	2	32,813,135 (GRCm39)	missense	probably damaging	1.00
R6720:Niban2	UTSW	2	32,795,838 (GRCm39)	missense	probably damaging	1.00
R6763:Niban2	UTSW	2	32,801,460 (GRCm39)	critical splice donor site	probably null
R6769:Niban2	UTSW	2	32,785,666 (GRCm39)
R7296:Niban2	UTSW	2	32,812,654 (GRCm39)	missense	possibly damaging	0.74
R7769:Niban2	UTSW	2	32,809,844 (GRCm39)	missense	possibly damaging	0.93
R7888:Niban2	UTSW	2	32,812,137 (GRCm39)	nonsense	probably null
R8282:Niban2	UTSW	2	32,809,029 (GRCm39)	missense	probably benign	0.02
R8685:Niban2	UTSW	2	32,809,101 (GRCm39)	missense	probably benign	0.03
R8729:Niban2	UTSW	2	32,799,946 (GRCm39)	missense	probably damaging	1.00
R8878:Niban2	UTSW	2	32,811,105 (GRCm39)	missense	probably benign	0.00
R8916:Niban2	UTSW	2	32,811,106 (GRCm39)	missense	possibly damaging	0.47
R9676:Niban2	UTSW	2	32,802,581 (GRCm39)	missense	probably benign	0.00
R9772:Niban2	UTSW	2	32,795,868 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16