Mutagenetix > Incidental Mutation

Incidental Mutation 'R8916:Niban2'

678917

Institutional Source

Beutler Lab

Gene Symbol

Niban2

Ensembl Gene

ENSMUSG00000026796

Gene Name

niban apoptosis regulator 2

Synonyms

9130404D14Rik, Fam129b

Accession Numbers

Essential gene?

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

Stock #

R8916 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32766146-32815265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32811106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 372 (M372K)

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

possibly damaging
Transcript: ENSMUST00000028135
AA Change: M372K

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: M372K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	G	13: 70,941,307 (GRCm39)	L360S	probably damaging	Het
AW554918	T	C	18: 25,423,049 (GRCm39)	Y167H	probably damaging	Het
Cdh18	A	T	15: 23,410,813 (GRCm39)	I433F	probably damaging	Het
Cenpj	A	T	14: 56,790,352 (GRCm39)	F566I	probably damaging	Het
Cntn4	T	A	6: 106,652,915 (GRCm39)	Y795N	probably damaging	Het
Col4a4	C	T	1: 82,501,667 (GRCm39)	G362E	unknown	Het
Crebrf	A	G	17: 26,958,583 (GRCm39)	T18A	probably damaging	Het
D130043K22Rik	G	A	13: 25,056,254 (GRCm39)	V529I	probably benign	Het
Dars2	T	C	1: 160,881,552 (GRCm39)	T326A	probably benign	Het
Eif4e	T	C	3: 138,256,043 (GRCm39)		probably benign	Het
Enpp2	T	C	15: 54,733,722 (GRCm39)	M413V	possibly damaging	Het
Fbn1	T	C	2: 125,245,149 (GRCm39)	D246G	possibly damaging	Het
Foxred2	A	G	15: 77,837,514 (GRCm39)	S241P	probably damaging	Het
Fras1	T	C	5: 96,900,774 (GRCm39)	F2998L	probably damaging	Het
Garin4	A	G	1: 190,895,857 (GRCm39)	I262T	probably benign	Het
Grb10	T	C	11: 11,901,599 (GRCm39)	T192A	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Hinfp	A	T	9: 44,209,673 (GRCm39)	F234I	probably damaging	Het
Hmcn1	A	T	1: 150,649,530 (GRCm39)	I652N	probably damaging	Het
Kif24	T	C	4: 41,394,963 (GRCm39)	K771E	probably benign	Het
Lhcgr	A	G	17: 89,061,170 (GRCm39)		probably null	Het
Lnpk	A	T	2: 74,358,486 (GRCm39)	S358T	probably benign	Het
Lpcat2	A	T	8: 93,596,316 (GRCm39)	M118L	probably benign	Het
Lypd1	T	A	1: 125,801,120 (GRCm39)	T127S	unknown	Het
Mettl23	C	T	11: 116,740,111 (GRCm39)	T194I	probably damaging	Het
Mga	T	C	2: 119,788,819 (GRCm39)	V2227A	possibly damaging	Het
Mus81	A	T	19: 5,534,214 (GRCm39)	V368E	probably damaging	Het
Myo3a	T	A	2: 22,457,704 (GRCm39)	F1046I	probably damaging	Het
Nfia	G	A	4: 97,888,667 (GRCm39)	V222I	probably benign	Het
Nop9	A	G	14: 55,991,101 (GRCm39)	E586G	probably benign	Het
Nr2e1	G	A	10: 42,443,864 (GRCm39)	A286V	possibly damaging	Het
Nup153	G	A	13: 46,863,462 (GRCm39)	Q300*	probably null	Het
Plaat1	A	G	16: 29,039,259 (GRCm39)	D113G	possibly damaging	Het
Pnp2	T	C	14: 51,201,234 (GRCm39)	L202P	probably damaging	Het
Prss3b	T	A	6: 41,010,103 (GRCm39)	H77L	probably damaging	Het
Psen2	A	G	1: 180,063,495 (GRCm39)	F183L	probably benign	Het
Rint1	G	T	5: 23,992,826 (GRCm39)		probably benign	Het
Rsf1	GGC	GGCGGCGGCCGC	7: 97,229,140 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,608,635 (GRCm39)	R2335L	probably damaging	Het
Scn1a	T	C	2: 66,108,127 (GRCm39)	D1544G	probably damaging	Het
Sec31b	A	C	19: 44,520,783 (GRCm39)	S175A		Het
Sgcg	A	G	14: 61,474,341 (GRCm39)	S101P	probably damaging	Het
Shb	A	T	4: 45,489,154 (GRCm39)	S241T	probably damaging	Het
Slc47a2	A	T	11: 61,193,118 (GRCm39)	L545Q	probably damaging	Het
Spata31g1	C	A	4: 42,973,034 (GRCm39)	P789H	probably damaging	Het
Spef2	C	A	15: 9,725,266 (GRCm39)	E164*	probably null	Het
Sphkap	A	T	1: 83,255,108 (GRCm39)	N880K	possibly damaging	Het
Taf2	A	G	15: 54,899,931 (GRCm39)	V894A	probably benign	Het
Tgfa	T	G	6: 86,248,436 (GRCm39)	L146R	probably damaging	Het
Tlr3	C	T	8: 45,856,076 (GRCm39)	V35I	probably benign	Het
Tlr4	G	A	4: 66,847,268 (GRCm39)	V132I	probably benign	Het
Tsen34	C	T	7: 3,697,340 (GRCm39)		probably benign	Het
Ttc13	T	G	8: 125,409,976 (GRCm39)	K412T	probably damaging	Het
Unc45b	A	G	11: 82,804,038 (GRCm39)	I72V	probably benign	Het
Vmn1r195	A	G	13: 22,463,139 (GRCm39)	Y203C	probably damaging	Het
Vmn2r65	T	A	7: 84,595,665 (GRCm39)	T340S	probably benign	Het
Vmn2r88	T	A	14: 51,648,593 (GRCm39)	C46S		Het
Ythdf2	A	T	4: 131,931,830 (GRCm39)	D443E	probably damaging	Het
Zeb2	T	C	2: 44,886,796 (GRCm39)	R754G	probably damaging	Het
Zfp236	T	A	18: 82,664,351 (GRCm39)	E478V	probably damaging	Het
Zfp287	A	T	11: 62,605,136 (GRCm39)	Y590*	probably null	Het
Zfp9	A	T	6: 118,442,223 (GRCm39)	C146*	probably null	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
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
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'- ATTGTGTCCCAGGCTCTGTC -3'
(R):5'- CTTGCTCCATAAAGACTGATGGTAC -3'

Sequencing Primer
(F):5'- GGCTCTGTCACCAACGAAATTCTC -3'
(R):5'- TAAAAATACCCACTCTTTCCTCTAGG -3'

Posted On

2021-08-02