Mutagenetix > Incidental Mutation

Incidental Mutation 'R8729:Niban2'

662621

Institutional Source

Beutler Lab

Gene Symbol

Niban2

Ensembl Gene

ENSMUSG00000026796

Gene Name

niban apoptosis regulator 2

Synonyms

9130404D14Rik, Fam129b

MMRRC Submission

068577-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R8729 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32766146-32815265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32799946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 91 (L91Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028135] [ENSMUST00000138781]

AlphaFold

Q8R1F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028135
AA Change: L91Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: L91Q

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 damaging
Transcript: ENSMUST00000138781
AA Change: L75Q

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

SMART Domains

Protein: ENSMUSP00000114232
Gene: ENSMUSG00000026796
AA Change: L75Q

Domain	Start	End	E-Value	Type
Blast:PH	53	83	2e-15	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,176 (GRCm39)	Y148*	probably null	Het
Ank3	A	G	10: 69,838,428 (GRCm39)	D1812G	possibly damaging	Het
Ankrd17	C	T	5: 90,443,452 (GRCm39)	C405Y	probably benign	Het
Ankrd61	A	G	5: 143,827,803 (GRCm39)	Y391H	probably benign	Het
Calcb	A	C	7: 114,319,428 (GRCm39)	E70A	probably benign	Het
Ccr1	T	C	9: 123,763,831 (GRCm39)	K233R	probably benign	Het
Ccz1	T	C	5: 143,948,310 (GRCm39)	D115G	probably damaging	Het
Col14a1	T	A	15: 55,310,893 (GRCm39)	L1203*	probably null	Het
Csmd2	G	A	4: 128,356,638 (GRCm39)	D1648N		Het
Csn1s1	T	C	5: 87,824,998 (GRCm39)		probably null	Het
Depp1	C	A	6: 116,628,762 (GRCm39)	P35H	probably damaging	Het
Eif2ak3	C	A	6: 70,821,864 (GRCm39)	P52Q	probably benign	Het
Galnt18	T	C	7: 111,119,198 (GRCm39)	E441G	probably null	Het
Gpat2	C	A	2: 127,275,739 (GRCm39)	Q506K	probably damaging	Het
Gramd1a	C	A	7: 30,843,248 (GRCm39)	R20L	possibly damaging	Het
Helz	G	T	11: 107,528,754 (GRCm39)		probably null	Het
Hif1a	A	G	12: 73,990,902 (GRCm39)	N725D	probably damaging	Het
Ighv3-3	A	T	12: 114,160,252 (GRCm39)	W53R	possibly damaging	Het
Kat2a	T	C	11: 100,601,337 (GRCm39)	K331R	probably benign	Het
Klk1b4	T	A	7: 43,856,884 (GRCm39)	F3I	probably damaging	Het
Krt78	T	G	15: 101,855,455 (GRCm39)	Q785H	probably damaging	Het
Lsm11	C	T	11: 45,835,727 (GRCm39)	E5K	possibly damaging	Het
Luzp2	A	G	7: 54,816,985 (GRCm39)	K145R	probably damaging	Het
Man2b2	T	C	5: 36,973,462 (GRCm39)	T506A	probably benign	Het
Msrb3	A	C	10: 120,687,974 (GRCm39)	C34G	probably null	Het
Muc16	T	C	9: 18,571,346 (GRCm39)	D391G	unknown	Het
Mybpc2	C	T	7: 44,155,611 (GRCm39)	V881M	probably damaging	Het
Myh15	A	G	16: 48,881,851 (GRCm39)	K31R	probably damaging	Het
Ndnf	A	T	6: 65,680,758 (GRCm39)	K346*	probably null	Het
Nfs1	G	A	2: 155,965,727 (GRCm39)	T118I	probably benign	Het
Nlrp9c	T	G	7: 26,071,428 (GRCm39)	K893N	probably benign	Het
Nmd3	A	T	3: 69,655,682 (GRCm39)	K454N	possibly damaging	Het
Or5ae1	T	C	7: 84,565,523 (GRCm39)	C179R	probably damaging	Het
Pcdhb9	C	A	18: 37,535,639 (GRCm39)	D544E	possibly damaging	Het
Pck1	A	G	2: 172,997,866 (GRCm39)	I312V	probably damaging	Het
Pkd2l2	G	A	18: 34,566,354 (GRCm39)	V522I	probably benign	Het
Polr3c	C	T	3: 96,634,796 (GRCm39)		probably benign	Het
Prkd2	T	A	7: 16,583,052 (GRCm39)	H271Q	probably damaging	Het
Rpp21	A	G	17: 36,566,927 (GRCm39)	S59P	probably benign	Het
Rxfp4	T	A	3: 88,559,305 (GRCm39)	N382I	unknown	Het
Sirt1	A	G	10: 63,156,705 (GRCm39)	F642L	probably damaging	Het
Sp2	T	C	11: 96,852,099 (GRCm39)	D275G	possibly damaging	Het
Speer4a3	A	G	5: 26,158,178 (GRCm39)	V58A	probably damaging	Het
Srp72	C	T	5: 77,142,005 (GRCm39)	T414I	probably benign	Het
Syne1	T	A	10: 5,179,275 (GRCm39)	M4400L	probably benign	Het
Tbx15	A	T	3: 99,220,376 (GRCm39)	H156L	possibly damaging	Het
Tbxas1	G	T	6: 38,978,272 (GRCm39)	M140I	probably benign	Het
Tcof1	G	T	18: 60,962,145 (GRCm39)	P695T	unknown	Het
Tmprss9	A	T	10: 80,726,177 (GRCm39)	M476L	probably benign	Het
Trat1	A	T	16: 48,562,591 (GRCm39)	I73N	probably damaging	Het
Trp53bp2	A	T	1: 182,276,587 (GRCm39)	E856V	probably benign	Het
Ttc28	T	A	5: 111,383,509 (GRCm39)		probably null	Het
Ttn	AC	A	2: 76,749,528 (GRCm39)		probably null	Het
Twf1	T	C	15: 94,479,212 (GRCm39)	N216D	probably benign	Het
Unc80	C	A	1: 66,647,649 (GRCm39)	H1530N	probably benign	Het
Vmn1r235	A	T	17: 21,481,875 (GRCm39)	M67L	probably benign	Het
Vmn2r111	A	T	17: 22,767,239 (GRCm39)	Y753N	probably damaging	Het
Zkscan5	T	A	5: 145,157,071 (GRCm39)	N524K	probably benign	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
IGL02302:Niban2	APN	2	32,811,135 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTGCTTCGGAGTCCCAAC -3'
(R):5'- CTCAGATGGTGGAATAGGGTC -3'

Sequencing Primer
(F):5'- TCCCAACGAGGTCAGGGATG -3'
(R):5'- GTAACTCCAGTTCCAGAGGATCTG -3'

Posted On

2021-03-08