Mutagenetix > Incidental Mutation

Incidental Mutation 'R8685:Niban2'

661976

Institutional Source

Beutler Lab

Gene Symbol

Niban2

Ensembl Gene

ENSMUSG00000026796

Gene Name

niban apoptosis regulator 2

Synonyms

9130404D14Rik, Fam129b

MMRRC Submission

068540-MU

Accession Numbers

Essential gene?

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

Stock #

R8685 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32766146-32815265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32809101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 229 (L229R)

Ref Sequence

ENSEMBL: ENSMUSP00000028135 (fasta)

Gene Model

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

AlphaFold

Q8R1F1

Predicted Effect

probably benign
Transcript: ENSMUST00000028135
AA Change: L229R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: L229R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,862,140 (GRCm39)	Y50C	probably damaging	Het
Adgrl3	G	T	5: 81,874,708 (GRCm39)	D1002Y	possibly damaging	Het
Aoc3	G	A	11: 101,223,042 (GRCm39)	R426H	probably benign	Het
Atf6b	A	G	17: 34,869,320 (GRCm39)	H179R	probably benign	Het
Bbs4	T	C	9: 59,247,138 (GRCm39)	T121A	probably benign	Het
Brca1	T	C	11: 101,380,672 (GRCm39)	Y1787C	probably benign	Het
Cbx2	T	A	11: 118,918,746 (GRCm39)	S104T	possibly damaging	Het
Cdh10	T	A	15: 18,899,851 (GRCm39)	N59K	possibly damaging	Het
Clstn3	C	T	6: 124,433,867 (GRCm39)	R431H	probably damaging	Het
Cylc2	C	T	4: 51,229,651 (GRCm39)	T331M	unknown	Het
Dcpp3	T	C	17: 24,138,096 (GRCm39)	S85P	probably benign	Het
Dip2c	A	G	13: 9,687,161 (GRCm39)	T1262A	probably benign	Het
Dlgap2	A	G	8: 14,881,628 (GRCm39)	E900G	possibly damaging	Het
Dtx4	C	T	19: 12,446,995 (GRCm39)	D566N	probably benign	Het
Elmo1	T	A	13: 20,474,594 (GRCm39)	N339K	possibly damaging	Het
Gm11596	C	A	11: 99,683,816 (GRCm39)	R101S	unknown	Het
Hk1	T	C	10: 62,132,453 (GRCm39)		probably benign	Het
Hrnr	T	A	3: 93,230,205 (GRCm39)	S148T	unknown	Het
Hyls1	A	G	9: 35,472,724 (GRCm39)	Y231H	probably damaging	Het
Il17rb	T	A	14: 29,726,297 (GRCm39)	Y97F	probably benign	Het
Lamc1	G	T	1: 153,109,288 (GRCm39)	T1168K	probably benign	Het
Larp6	A	T	9: 60,631,495 (GRCm39)	D89V	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Myo18a	A	G	11: 77,745,520 (GRCm39)	T1953A	probably benign	Het
Myo5c	A	G	9: 75,192,229 (GRCm39)	D1127G	possibly damaging	Het
Myo7a	T	C	7: 97,746,334 (GRCm39)	D266G	probably benign	Het
Naa35	T	A	13: 59,734,036 (GRCm39)	M22K	probably benign	Het
Or1f19	A	T	16: 3,410,904 (GRCm39)	I215F	probably damaging	Het
Pcdha8	T	A	18: 37,127,003 (GRCm39)	V495E	probably damaging	Het
Per2	T	G	1: 91,378,402 (GRCm39)	D49A	possibly damaging	Het
Plau	G	A	14: 20,889,627 (GRCm39)		probably benign	Het
Plekhg6	T	A	6: 125,352,755 (GRCm39)	I131L	possibly damaging	Het
Pnma8b	T	A	7: 16,679,965 (GRCm39)	D316E	unknown	Het
Ppp4r3b	T	C	11: 29,159,436 (GRCm39)	Y597H	possibly damaging	Het
Psmd2	T	C	16: 20,474,161 (GRCm39)	V288A	probably benign	Het
Slc6a15	T	C	10: 103,245,556 (GRCm39)	V513A	possibly damaging	Het
Smarcd3	G	A	5: 24,800,988 (GRCm39)	R140W	probably damaging	Het
Srrm4	T	C	5: 116,585,380 (GRCm39)	R440G	unknown	Het
Tpsg1	A	T	17: 25,592,241 (GRCm39)	Y105F	possibly damaging	Het
Trbv26	C	A	6: 41,204,693 (GRCm39)	A38E	probably damaging	Het
Ush2a	T	A	1: 188,198,401 (GRCm39)	N1488K	probably damaging	Het
Vill	A	T	9: 118,895,795 (GRCm39)	R502S	probably benign	Het
Zbed6	A	T	1: 133,584,754 (GRCm39)	L861*	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
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

Predicted Primers

PCR Primer
(F):5'- ATGGTGCTACAGGGTGAAC -3'
(R):5'- CATCTTGTCCAGAACTGCCC -3'

Sequencing Primer
(F):5'- TGCTACAGGGTGAACCACGG -3'
(R):5'- CTCAGGGACACGAGTGGAC -3'

Posted On

2021-03-08