Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02341:Niban3'

289075

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Niban3

Ensembl Gene

ENSMUSG00000043243

Gene Name

niban apoptosis regulator 3

Synonyms

Fam129c, Bcnp1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02341

Quality Score

Status

Chromosome

Chromosomal Location

72050292-72060580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72056443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 381 (N381I)

Ref Sequence

ENSEMBL: ENSMUSP00000123432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000125339] [ENSMUST00000126559] [ENSMUST00000127626] [ENSMUST00000143662]

AlphaFold

D3YZB0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124485

Predicted Effect

probably benign
Transcript: ENSMUST00000125339

SMART Domains

Protein: ENSMUSP00000119708
Gene: ENSMUSG00000043243

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	110	119	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125525

Predicted Effect

probably benign
Transcript: ENSMUST00000126559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127285

Predicted Effect

probably benign
Transcript: ENSMUST00000127626

SMART Domains

Protein: ENSMUSP00000122042
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	18	214	7.2e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132891

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143662
AA Change: N381I

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: N381I

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
PH	68	196	4.94e-4	SMART
low complexity region	218	230	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
low complexity region	437	448	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141594

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	C	T	15: 96,270,066 (GRCm39)	S1393L	probably benign	Het
Bahcc1	T	A	11: 120,163,346 (GRCm39)	I548N	probably damaging	Het
Baiap3	A	T	17: 25,467,290 (GRCm39)	L405Q	possibly damaging	Het
Cacna1g	T	G	11: 94,352,978 (GRCm39)	Q349P	probably damaging	Het
Ccdc30	T	C	4: 119,213,978 (GRCm39)	T184A	possibly damaging	Het
Ccdc63	A	G	5: 122,251,261 (GRCm39)	I383T	probably benign	Het
Ccnk	A	G	12: 108,161,989 (GRCm39)	E298G	unknown	Het
Ccnt1	T	C	15: 98,444,664 (GRCm39)	E223G	possibly damaging	Het
Clcc1	T	A	3: 108,580,699 (GRCm39)	L333I	possibly damaging	Het
Cyp2b10	G	A	7: 25,610,667 (GRCm39)	R59Q	probably benign	Het
Cyp3a41b	T	A	5: 145,510,461 (GRCm39)	T138S	probably benign	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnah8	A	T	17: 30,966,231 (GRCm39)	I2474F	probably damaging	Het
Dok1	T	C	6: 83,010,035 (GRCm39)	T25A	probably damaging	Het
Ears2	G	A	7: 121,638,987 (GRCm39)	A479V	probably benign	Het
Erc1	T	A	6: 119,571,934 (GRCm39)	I981F	possibly damaging	Het
Gm8730	A	G	8: 103,591,775 (GRCm39)		noncoding transcript	Het
Gm9962	C	T	7: 57,037,042 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,600,637 (GRCm39)	Y33F	probably damaging	Het
Hk1	A	G	10: 62,120,159 (GRCm39)	S607P	possibly damaging	Het
Hlcs	T	A	16: 94,031,969 (GRCm39)	I612F	probably damaging	Het
Llgl2	T	A	11: 115,741,946 (GRCm39)	S663T	possibly damaging	Het
Lrriq1	T	C	10: 103,060,802 (GRCm39)	H100R	probably benign	Het
Lypd8l	T	C	11: 58,503,656 (GRCm39)	S17G	possibly damaging	Het
Magi2	T	A	5: 20,671,201 (GRCm39)	I678N	probably damaging	Het
Megf11	G	A	9: 64,451,902 (GRCm39)	G109S	probably damaging	Het
Morc2b	A	T	17: 33,356,281 (GRCm39)	I497K	probably damaging	Het
Mybpc2	A	C	7: 44,164,354 (GRCm39)	S404A	probably benign	Het
Mylip	A	G	13: 45,544,752 (GRCm39)	R59G	probably damaging	Het
Mylk3	A	T	8: 86,078,601 (GRCm39)	I501N	probably damaging	Het
Myo19	A	G	11: 84,778,871 (GRCm39)		probably benign	Het
Nat2	A	G	8: 67,954,370 (GRCm39)	Y160C	possibly damaging	Het
Nf1	C	T	11: 79,455,752 (GRCm39)	A2554V	probably benign	Het
Ninl	A	T	2: 150,786,525 (GRCm39)	C153*	probably null	Het
Nlrp5	C	T	7: 23,103,577 (GRCm39)	R15C	probably benign	Het
Nphp4	A	T	4: 152,639,926 (GRCm39)		probably benign	Het
Obscn	C	A	11: 59,026,651 (GRCm39)	R184L	probably benign	Het
Or6c202	T	A	10: 128,996,302 (GRCm39)	I184F	probably benign	Het
Or6c6c	A	T	10: 129,541,358 (GRCm39)	T204S	probably damaging	Het
Or6c8	A	T	10: 128,915,330 (GRCm39)	C167*	probably null	Het
Phip	A	T	9: 82,814,936 (GRCm39)	V262D	probably damaging	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Reck	T	A	4: 43,925,160 (GRCm39)	D466E	probably damaging	Het
Rimbp2	G	T	5: 128,878,025 (GRCm39)	Y213*	probably null	Het
Scn2a	C	T	2: 65,518,721 (GRCm39)	T365M	probably damaging	Het
Scpep1	T	A	11: 88,835,314 (GRCm39)	T120S	probably benign	Het
Sp7	T	A	15: 102,267,657 (GRCm39)	T50S	possibly damaging	Het
Tbc1d1	A	G	5: 64,432,750 (GRCm39)	R304G	probably damaging	Het
Tiam1	A	G	16: 89,695,257 (GRCm39)	S67P	probably damaging	Het
Tjp1	G	A	7: 64,962,382 (GRCm39)	T1185I	probably damaging	Het
Tspan2	T	A	3: 102,672,529 (GRCm39)	I178N	probably damaging	Het
Tusc2	T	A	9: 107,442,109 (GRCm39)	*103R	probably null	Het
Uggt1	A	T	1: 36,203,600 (GRCm39)	*47R	probably null	Het
Unc13c	T	A	9: 73,840,492 (GRCm39)	I120F	possibly damaging	Het
Vcpip1	T	A	1: 9,795,175 (GRCm39)	K1065N	possibly damaging	Het
Zfp532	C	A	18: 65,757,849 (GRCm39)	P594Q	probably damaging	Het

Other mutations in Niban3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Niban3	APN	8	72,057,507 (GRCm39)	splice site	probably benign
IGL01530:Niban3	APN	8	72,056,561 (GRCm39)	splice site	probably benign
IGL01553:Niban3	APN	8	72,055,546 (GRCm39)	missense	possibly damaging	0.86
IGL02313:Niban3	APN	8	72,055,504 (GRCm39)	missense	possibly damaging	0.92
IGL02541:Niban3	APN	8	72,055,426 (GRCm39)	missense	probably benign	0.07
IGL02745:Niban3	APN	8	72,057,682 (GRCm39)	splice site	probably null
R0006:Niban3	UTSW	8	72,057,688 (GRCm39)	splice site	probably benign
R0391:Niban3	UTSW	8	72,055,143 (GRCm39)	splice site	probably benign
R0594:Niban3	UTSW	8	72,051,779 (GRCm39)	missense	probably benign	0.07
R1208:Niban3	UTSW	8	72,053,119 (GRCm39)	missense	probably damaging	0.99
R1208:Niban3	UTSW	8	72,053,119 (GRCm39)	missense	probably damaging	0.99
R1643:Niban3	UTSW	8	72,052,808 (GRCm39)	missense	probably benign	0.34
R1848:Niban3	UTSW	8	72,056,413 (GRCm39)	missense	possibly damaging	0.95
R1986:Niban3	UTSW	8	72,056,404 (GRCm39)	missense	possibly damaging	0.63
R2319:Niban3	UTSW	8	72,055,408 (GRCm39)	missense	probably benign	0.00
R4386:Niban3	UTSW	8	72,060,155 (GRCm39)	intron	probably benign
R4564:Niban3	UTSW	8	72,057,704 (GRCm39)	intron	probably benign
R4666:Niban3	UTSW	8	72,056,469 (GRCm39)	nonsense	probably null
R6341:Niban3	UTSW	8	72,052,721 (GRCm39)	missense	probably damaging	1.00
R6364:Niban3	UTSW	8	72,051,733 (GRCm39)	missense	probably benign	0.08
R6888:Niban3	UTSW	8	72,056,383 (GRCm39)	missense	probably benign
R6890:Niban3	UTSW	8	72,058,315 (GRCm39)	missense	probably damaging	1.00
R7383:Niban3	UTSW	8	72,056,470 (GRCm39)	missense	possibly damaging	0.86
R7441:Niban3	UTSW	8	72,052,808 (GRCm39)	missense	probably benign	0.34
R7459:Niban3	UTSW	8	72,057,671 (GRCm39)	missense	possibly damaging	0.75
R7527:Niban3	UTSW	8	72,059,342 (GRCm39)	missense	probably damaging	0.99
R7873:Niban3	UTSW	8	72,054,892 (GRCm39)	missense	probably damaging	1.00
R8698:Niban3	UTSW	8	72,060,159 (GRCm39)	missense	unknown
R8936:Niban3	UTSW	8	72,060,307 (GRCm39)	utr 3 prime	probably benign
R9272:Niban3	UTSW	8	72,055,520 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16