Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Niban3'

514392

Institutional Source

Beutler Lab

Gene Symbol

Niban3

Ensembl Gene

ENSMUSG00000043243

Gene Name

niban apoptosis regulator 3

Synonyms

Fam129c, Bcnp1

MMRRC Submission

044495-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6341 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

72050292-72060580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72052721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 65 (P65L)

Ref Sequence

ENSEMBL: ENSMUSP00000123432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034264] [ENSMUST00000125339] [ENSMUST00000126559] [ENSMUST00000143662] [ENSMUST00000127626] [ENSMUST00000143441]

AlphaFold

D3YZB0

Predicted Effect

probably benign
Transcript: ENSMUST00000034264

SMART Domains

Protein: ENSMUSP00000034264
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	18	217	2.1e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123240

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 damaging
Transcript: ENSMUST00000143662
AA Change: P65L

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

SMART Domains

Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: P65L

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

probably benign
Transcript: ENSMUST00000138742

SMART Domains

Protein: ENSMUSP00000120113
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	7	174	7.6e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132891

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

probably benign
Transcript: ENSMUST00000143441

SMART Domains

Protein: ENSMUSP00000116524
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	12	134	3.8e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141594

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,924,364 (GRCm39)	D658G	possibly damaging	Het
Amz2	A	G	11: 109,319,653 (GRCm39)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,326,828 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,840,270 (GRCm39)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,494,573 (GRCm39)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,465,978 (GRCm39)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,113,366 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,496,072 (GRCm39)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,700,933 (GRCm39)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,115,551 (GRCm39)	D594E	probably benign	Het
Ddx5	T	C	11: 106,676,368 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,168,202 (GRCm39)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,788,204 (GRCm39)		probably null	Het
Ecel1	A	G	1: 87,078,193 (GRCm39)		probably null	Het
Efcab6	T	G	15: 83,820,139 (GRCm39)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,754,959 (GRCm39)	L464P	possibly damaging	Het
Fam234a	T	A	17: 26,432,667 (GRCm39)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,065,127 (GRCm39)	V694A	probably damaging	Het
Gli2	T	C	1: 118,763,954 (GRCm39)	D1399G	probably damaging	Het
Gm10110	T	C	14: 90,134,144 (GRCm39)		noncoding transcript	Het
Hdac3	A	G	18: 38,077,217 (GRCm39)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,032,022 (GRCm39)	F52S	probably damaging	Het
Ints7	C	A	1: 191,345,239 (GRCm39)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,816,064 (GRCm39)	I878M	probably damaging	Het
Itga3	A	T	11: 94,946,677 (GRCm39)		probably null	Het
Lrfn5	T	A	12: 61,890,368 (GRCm39)	Y552*	probably null	Het
Mafb	T	C	2: 160,208,371 (GRCm39)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,822,028 (GRCm39)	S748C	probably damaging	Het
Mmp15	G	T	8: 96,092,091 (GRCm39)		probably null	Het
Mmp17	A	T	5: 129,679,019 (GRCm39)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,355,229 (GRCm39)	D1005V	probably damaging	Het
Myh3	T	C	11: 66,973,822 (GRCm39)	F165S	probably benign	Het
Nacc1	T	C	8: 85,401,420 (GRCm39)	D419G	probably benign	Het
Neb	G	A	2: 52,099,486 (GRCm39)	S4545L	probably damaging	Het
Npas2	T	C	1: 39,339,768 (GRCm39)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or5b12	T	C	19: 12,896,843 (GRCm39)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,602,227 (GRCm39)	Q2283L	probably benign	Het
Phax	C	T	18: 56,706,173 (GRCm39)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,152,829 (GRCm39)	K79*	probably null	Het
Pkd1	T	A	17: 24,799,201 (GRCm39)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,190,572 (GRCm39)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,288,693 (GRCm39)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,907 (GRCm39)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,863,538 (GRCm39)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,359,037 (GRCm39)	S181P	probably damaging	Het
Rigi	T	A	4: 40,222,199 (GRCm39)		probably null	Het
Rlf	G	A	4: 121,006,557 (GRCm39)	Q808*	probably null	Het
Rogdi	G	T	16: 4,831,241 (GRCm39)		probably null	Het
Sec24a	A	T	11: 51,608,603 (GRCm39)	V573D	probably damaging	Het
Sorbs2	A	G	8: 46,223,615 (GRCm39)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,219,367 (GRCm39)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,574,193 (GRCm39)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,189,473 (GRCm39)	R421H	probably damaging	Het
Top3b	T	C	16: 16,696,935 (GRCm39)	M62T	probably damaging	Het
Trhr	T	G	15: 44,092,694 (GRCm39)	Y310*	probably null	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,331,353 (GRCm39)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,448,995 (GRCm39)	M290K	probably benign	Het
Wdr75	T	C	1: 45,841,291 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,925,546 (GRCm39)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,741,001 (GRCm39)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,491,567 (GRCm39)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,948,816 (GRCm39)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,738,337 (GRCm39)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,555,957 (GRCm39)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,027,240 (GRCm39)	S276R	probably benign	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
IGL02341:Niban3	APN	8	72,056,443 (GRCm39)	missense	possibly damaging	0.60
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCCATGCAGTCCATCAC -3'
(R):5'- TCAGGACCTTGCCTGTTATTGC -3'

Sequencing Primer
(F):5'- TCACCCACACCTGATACAATTTTG -3'
(R):5'- GCCTGTTATTGCCCAGGG -3'

Posted On

2018-04-27