Mutagenetix > Incidental Mutation

Incidental Mutation 'R7392:Niban1'

573481

Institutional Source

Beutler Lab

Gene Symbol

Niban1

Ensembl Gene

ENSMUSG00000026483

Gene Name

niban apoptosis regulator 1

Synonyms

Fam129a, Niban

MMRRC Submission

045474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

151447124-151596791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151571975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 307 (T307A)

Ref Sequence

ENSEMBL: ENSMUSP00000115822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097541] [ENSMUST00000148810]

AlphaFold

Q3UW53

Predicted Effect

probably damaging
Transcript: ENSMUST00000097541
AA Change: T307A

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

SMART Domains

Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: T307A

Domain	Start	End	E-Value	Type
Blast:PH	70	197	2e-83	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000148810
AA Change: T307A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: T307A

Domain	Start	End	E-Value	Type
SCOP:d1faoa_	67	118	1e-2	SMART
Blast:PH	70	197	1e-80	BLAST
low complexity region	540	549	N/A	INTRINSIC
low complexity region	699	714	N/A	INTRINSIC
low complexity region	784	797	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no overt phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,990 (GRCm39)	F564L	probably damaging	Het
Abcc2	T	C	19: 43,797,126 (GRCm39)	I499T	probably damaging	Het
Adamts13	C	T	2: 26,879,336 (GRCm39)	R630C	probably damaging	Het
Adgrv1	A	T	13: 81,708,808 (GRCm39)	F1199I	probably damaging	Het
Agbl5	G	A	5: 31,048,115 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,516,648 (GRCm39)	D881G	possibly damaging	Het
Arap2	A	T	5: 62,855,728 (GRCm39)	S569R	possibly damaging	Het
Arhgap15	T	C	2: 43,953,786 (GRCm39)	S171P	possibly damaging	Het
Arhgef11	G	A	3: 87,624,482 (GRCm39)		probably null	Het
Baz1a	C	A	12: 54,945,550 (GRCm39)	L1271F	probably damaging	Het
Bdnf	A	C	2: 109,554,275 (GRCm39)	K216N	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bnip5	A	T	17: 29,127,351 (GRCm39)	D219E	probably benign	Het
Cacna1c	T	A	6: 118,718,881 (GRCm39)	I390F		Het
Chd8	A	G	14: 52,470,312 (GRCm39)	S433P	probably benign	Het
Clrn2	A	G	5: 45,621,251 (GRCm39)	E215G	possibly damaging	Het
Col19a1	T	G	1: 24,573,115 (GRCm39)	D219A	unknown	Het
Col2a1	G	A	15: 97,878,032 (GRCm39)	R1036*	probably null	Het
Copg1	T	A	6: 87,867,257 (GRCm39)	V110D	probably benign	Het
Cpd	C	T	11: 76,692,605 (GRCm39)	G744D	probably damaging	Het
Crygs	G	A	16: 22,625,252 (GRCm39)	P63L	probably benign	Het
Dcn	A	G	10: 97,345,860 (GRCm39)	D224G	probably damaging	Het
Dnah7a	T	C	1: 53,540,820 (GRCm39)	E2518G	probably benign	Het
Efcab6	C	A	15: 83,873,152 (GRCm39)	R197L	probably benign	Het
Efr3b	T	A	12: 4,019,588 (GRCm39)	Y723F	probably benign	Het
Enam	A	G	5: 88,649,523 (GRCm39)	N344S	probably damaging	Het
Erich4	A	G	7: 25,315,101 (GRCm39)	I58T	possibly damaging	Het
Esrp1	A	G	4: 11,338,809 (GRCm39)	V665A	probably benign	Het
Etf1	G	A	18: 35,039,103 (GRCm39)	T388I	probably benign	Het
Faf1	A	G	4: 109,652,040 (GRCm39)	T244A	probably benign	Het
Fbn1	T	C	2: 125,185,844 (GRCm39)	D1610G	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Frem1	G	T	4: 82,932,064 (GRCm39)	F212L	probably benign	Het
Fuom	T	A	7: 139,681,073 (GRCm39)	D85V	probably damaging	Het
Gcfc2	T	C	6: 81,919,993 (GRCm39)		probably null	Het
Gpr37	C	T	6: 25,688,786 (GRCm39)	A104T	probably benign	Het
Hsp90ab1	G	C	17: 45,879,974 (GRCm39)	T514S	probably benign	Het
Ifnl2	A	G	7: 28,209,094 (GRCm39)	F74L	probably benign	Het
Ipo11	G	A	13: 107,028,199 (GRCm39)	R367*	probably null	Het
Itpr2	T	C	6: 146,260,838 (GRCm39)	D963G	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrch3	T	A	16: 32,807,125 (GRCm39)	L466*	probably null	Het
Lrfn5	A	T	12: 61,887,090 (GRCm39)	T293S	probably benign	Het
Lrp5	A	G	19: 3,660,199 (GRCm39)	I955T	probably damaging	Het
Lrrc4b	C	T	7: 44,111,439 (GRCm39)	T437M	probably damaging	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Mapkap1	G	T	2: 34,325,166 (GRCm39)	R94L	probably damaging	Het
Mtmr4	T	A	11: 87,495,383 (GRCm39)	L480Q	probably damaging	Het
Mycbp2	T	C	14: 103,389,627 (GRCm39)	I3504M	probably damaging	Het
Mycbp2	A	T	14: 103,480,564 (GRCm39)	C1169S	probably damaging	Het
Myo15a	T	C	11: 60,396,802 (GRCm39)	S1455P		Het
Nid2	A	G	14: 19,818,724 (GRCm39)	D406G	probably benign	Het
Nrip2	A	G	6: 128,381,913 (GRCm39)	I69V	probably benign	Het
Nthl1	G	A	17: 24,857,598 (GRCm39)	V266I	probably benign	Het
Or2ag16	T	C	7: 106,352,589 (GRCm39)	E2G	possibly damaging	Het
Or5an6	G	T	19: 12,371,829 (GRCm39)	L67F	probably damaging	Het
Or5b21	A	G	19: 12,839,951 (GRCm39)	T271A	probably benign	Het
Or5g23	A	C	2: 85,438,832 (GRCm39)	C141G	possibly damaging	Het
Or5p75-ps1	C	A	7: 108,107,291 (GRCm39)	H9Q	possibly damaging	Het
Or8k25	A	G	2: 86,243,496 (GRCm39)	V300A	probably benign	Het
Or8s5	A	G	15: 98,238,192 (GRCm39)	V226A	probably benign	Het
Pcdhb1	A	C	18: 37,398,171 (GRCm39)	S41R	possibly damaging	Het
Pdcd11	T	A	19: 47,116,436 (GRCm39)	F1529I	probably damaging	Het
Plcd3	C	A	11: 102,992,383 (GRCm39)		probably benign	Het
Qdpr	T	C	5: 45,596,718 (GRCm39)	M149V	probably benign	Het
R3hcc1	T	A	14: 69,943,329 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,041,856 (GRCm39)	Y392C		Het
Slc8a3	A	C	12: 81,361,577 (GRCm39)	V414G	probably damaging	Het
Slco1a6	A	G	6: 142,103,003 (GRCm39)	S54P	probably benign	Het
Sos1	C	A	17: 80,731,629 (GRCm39)	V624F	probably damaging	Het
Spdef	T	C	17: 27,936,262 (GRCm39)	D227G	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Srsf12	A	T	4: 33,209,265 (GRCm39)	R62W	unknown	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Sult2b1	T	C	7: 45,391,862 (GRCm39)		probably benign	Het
Taf1a	A	G	1: 183,190,095 (GRCm39)	T66A		Het
Tfg	A	T	16: 56,532,972 (GRCm39)		probably null	Het
Trim34b	A	G	7: 103,985,604 (GRCm39)	N413S	probably benign	Het
Txndc15	T	A	13: 55,869,399 (GRCm39)	M184K	probably damaging	Het
Umodl1	A	C	17: 31,201,306 (GRCm39)	S412R	probably damaging	Het
Zbtb8b	T	A	4: 129,326,683 (GRCm39)	M161L	probably benign	Het
Zfp597	A	T	16: 3,684,369 (GRCm39)	V129E	probably benign	Het
Zfp790	T	C	7: 29,528,050 (GRCm39)	I245T	possibly damaging	Het

Other mutations in Niban1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Niban1	APN	1	151,593,472 (GRCm39)	missense	probably benign	0.06
IGL01690:Niban1	APN	1	151,579,555 (GRCm39)	missense	probably damaging	1.00
IGL01762:Niban1	APN	1	151,512,242 (GRCm39)	missense	probably damaging	1.00
IGL01784:Niban1	APN	1	151,525,116 (GRCm39)	missense	probably damaging	1.00
IGL01938:Niban1	APN	1	151,565,365 (GRCm39)	missense	probably benign	0.22
IGL02427:Niban1	APN	1	151,593,025 (GRCm39)	missense	probably damaging	1.00
IGL02617:Niban1	APN	1	151,447,296 (GRCm39)	missense	probably benign	0.11
IGL02946:Niban1	APN	1	151,525,176 (GRCm39)	missense	probably damaging	0.99
R0242:Niban1	UTSW	1	151,593,967 (GRCm39)	missense	probably benign	0.00
R0242:Niban1	UTSW	1	151,593,967 (GRCm39)	missense	probably benign	0.00
R0279:Niban1	UTSW	1	151,584,957 (GRCm39)	critical splice donor site	probably null
R0421:Niban1	UTSW	1	151,584,833 (GRCm39)	splice site	probably benign
R0531:Niban1	UTSW	1	151,593,835 (GRCm39)	missense	probably benign	0.11
R0725:Niban1	UTSW	1	151,581,766 (GRCm39)	missense	probably benign	0.04
R1493:Niban1	UTSW	1	151,581,841 (GRCm39)	missense	probably damaging	1.00
R1563:Niban1	UTSW	1	151,591,424 (GRCm39)	missense	possibly damaging	0.69
R1868:Niban1	UTSW	1	151,517,302 (GRCm39)	missense	possibly damaging	0.71
R1944:Niban1	UTSW	1	151,571,979 (GRCm39)	missense	probably damaging	0.99
R1945:Niban1	UTSW	1	151,571,979 (GRCm39)	missense	probably damaging	0.99
R2071:Niban1	UTSW	1	151,512,181 (GRCm39)	missense	probably damaging	1.00
R2126:Niban1	UTSW	1	151,584,884 (GRCm39)	missense	possibly damaging	0.94
R2126:Niban1	UTSW	1	151,571,886 (GRCm39)	missense	probably damaging	1.00
R2138:Niban1	UTSW	1	151,572,002 (GRCm39)	missense	probably damaging	0.98
R2180:Niban1	UTSW	1	151,593,829 (GRCm39)	missense	probably benign	0.02
R2402:Niban1	UTSW	1	151,565,365 (GRCm39)	missense	probably benign	0.22
R3689:Niban1	UTSW	1	151,579,447 (GRCm39)	splice site	probably null
R3783:Niban1	UTSW	1	151,565,399 (GRCm39)	missense	possibly damaging	0.66
R3975:Niban1	UTSW	1	151,525,086 (GRCm39)	missense	probably damaging	1.00
R4029:Niban1	UTSW	1	151,571,441 (GRCm39)	missense	probably benign	0.00
R4328:Niban1	UTSW	1	151,512,169 (GRCm39)	missense	possibly damaging	0.86
R4447:Niban1	UTSW	1	151,512,153 (GRCm39)	critical splice acceptor site	probably null
R4573:Niban1	UTSW	1	151,579,517 (GRCm39)	missense	possibly damaging	0.85
R4774:Niban1	UTSW	1	151,591,445 (GRCm39)	missense	probably damaging	1.00
R5064:Niban1	UTSW	1	151,565,410 (GRCm39)	missense	probably benign	0.05
R5077:Niban1	UTSW	1	151,590,274 (GRCm39)	missense	probably benign	0.00
R5187:Niban1	UTSW	1	151,579,580 (GRCm39)	missense	possibly damaging	0.50
R5484:Niban1	UTSW	1	151,593,837 (GRCm39)	missense	probably benign	0.08
R5553:Niban1	UTSW	1	151,592,986 (GRCm39)	missense	probably damaging	0.99
R5572:Niban1	UTSW	1	151,584,941 (GRCm39)	missense	probably benign	0.05
R5575:Niban1	UTSW	1	151,593,991 (GRCm39)	missense	probably benign	0.31
R5586:Niban1	UTSW	1	151,593,307 (GRCm39)	missense	probably benign	0.00
R5697:Niban1	UTSW	1	151,576,012 (GRCm39)	missense	probably damaging	1.00
R6305:Niban1	UTSW	1	151,571,469 (GRCm39)	missense	probably damaging	1.00
R7065:Niban1	UTSW	1	151,575,858 (GRCm39)	critical splice acceptor site	probably null
R7126:Niban1	UTSW	1	151,590,318 (GRCm39)	nonsense	probably null
R7571:Niban1	UTSW	1	151,594,048 (GRCm39)	missense	probably benign	0.01
R7577:Niban1	UTSW	1	151,594,063 (GRCm39)	missense	probably benign
R7939:Niban1	UTSW	1	151,581,775 (GRCm39)	missense	probably damaging	1.00
R8018:Niban1	UTSW	1	151,593,006 (GRCm39)	nonsense	probably null
R8164:Niban1	UTSW	1	151,593,339 (GRCm39)	missense	probably benign	0.02
R8356:Niban1	UTSW	1	151,571,901 (GRCm39)	missense	probably damaging	1.00
R8478:Niban1	UTSW	1	151,512,263 (GRCm39)	missense	possibly damaging	0.77
R8833:Niban1	UTSW	1	151,520,681 (GRCm39)	missense	probably damaging	1.00
R8847:Niban1	UTSW	1	151,575,929 (GRCm39)	missense	probably damaging	1.00
R8854:Niban1	UTSW	1	151,584,950 (GRCm39)	missense	probably damaging	1.00
R8960:Niban1	UTSW	1	151,591,463 (GRCm39)	missense	possibly damaging	0.92
R9616:Niban1	UTSW	1	151,512,193 (GRCm39)	missense	probably damaging	1.00
R9684:Niban1	UTSW	1	151,593,538 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ACCTGCTCAATCTCACTGGC -3'
(R):5'- CTCAGCTTAATTCTCTTCGGAAAC -3'

Sequencing Primer
(F):5'- CAGAGTCGTTCTTACAATTTGAGC -3'
(R):5'- GAGAAGCCTGAACCTGATCATTGC -3'

Posted On

2019-09-13