Mutagenetix > Incidental Mutation

Incidental Mutation 'R7702:Banp'

594065

Institutional Source

Beutler Lab

Gene Symbol

Banp

Ensembl Gene

ENSMUSG00000025316

Gene Name

BTG3 associated nuclear protein

Synonyms

SMAR1

MMRRC Submission

045763-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R7702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122676489-122755997 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 122705326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 65 (C65*)

Ref Sequence

ENSEMBL: ENSMUSP00000132095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026354] [ENSMUST00000093078] [ENSMUST00000127664] [ENSMUST00000170857] [ENSMUST00000172511] [ENSMUST00000172628] [ENSMUST00000172681] [ENSMUST00000173254] [ENSMUST00000174445] [ENSMUST00000174753]

AlphaFold

Q8VBU8

Predicted Effect

probably null
Transcript: ENSMUST00000026354
AA Change: C65*

SMART Domains

Protein: ENSMUSP00000026354
Gene: ENSMUSG00000025316
AA Change: C65*

Domain	Start	End	E-Value	Type
coiled coil region	61	98	N/A	INTRINSIC
low complexity region	144	157	N/A	INTRINSIC
BEN	218	291	6.7e-21	SMART
low complexity region	301	315	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000093078
AA Change: C65*

SMART Domains

Protein: ENSMUSP00000090766
Gene: ENSMUSG00000025316
AA Change: C65*

Domain	Start	End	E-Value	Type
coiled coil region	61	98	N/A	INTRINSIC
low complexity region	144	157	N/A	INTRINSIC
BEN	218	291	6.7e-21	SMART
low complexity region	301	315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000170857
AA Change: C65*

SMART Domains

Protein: ENSMUSP00000132095
Gene: ENSMUSG00000025316
AA Change: C65*

Domain	Start	End	E-Value	Type
coiled coil region	61	98	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
BEN	257	330	6.7e-21	SMART
low complexity region	340	354	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172511
AA Change: C65*

SMART Domains

Protein: ENSMUSP00000133365
Gene: ENSMUSG00000025316
AA Change: C65*

Domain	Start	End	E-Value	Type
coiled coil region	61	98	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172628
AA Change: C103*

SMART Domains

Protein: ENSMUSP00000133342
Gene: ENSMUSG00000025316
AA Change: C103*

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
coiled coil region	99	136	N/A	INTRINSIC
low complexity region	182	195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172681

Predicted Effect

probably null
Transcript: ENSMUST00000173254
AA Change: C65*

SMART Domains

Protein: ENSMUSP00000133783
Gene: ENSMUSG00000025316
AA Change: C65*

Domain	Start	End	E-Value	Type
coiled coil region	61	98	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
BEN	257	330	6.7e-21	SMART
low complexity region	340	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174445

Predicted Effect

probably null
Transcript: ENSMUST00000174753
AA Change: C57*

SMART Domains

Protein: ENSMUSP00000134058
Gene: ENSMUSG00000025316
AA Change: C57*

Domain	Start	End	E-Value	Type
coiled coil region	52	90	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,167,278 (GRCm39)		probably null	Het
AU040320	T	A	4: 126,708,166 (GRCm39)	S261T	probably benign	Het
Bloc1s5	T	C	13: 38,787,850 (GRCm39)	D178G	probably benign	Het
Cacna1c	A	G	6: 118,575,727 (GRCm39)	F1941L		Het
Ccdc121rt3	T	C	5: 112,503,063 (GRCm39)	K214E	probably benign	Het
Cd48	A	G	1: 171,523,348 (GRCm39)	I64V	probably damaging	Het
Cela3a	A	G	4: 137,135,501 (GRCm39)	S21P	probably benign	Het
Cidec	A	G	6: 113,411,415 (GRCm39)	Y12H	possibly damaging	Het
Col12a1	C	G	9: 79,588,803 (GRCm39)	R1104T	probably damaging	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dbnl	C	T	11: 5,748,048 (GRCm39)	L298F	probably benign	Het
Dnah1	C	A	14: 31,032,866 (GRCm39)	V390F	probably benign	Het
Dnah17	T	C	11: 118,012,304 (GRCm39)	D486G	possibly damaging	Het
Dnah17	T	C	11: 117,916,466 (GRCm39)	I4236V	probably benign	Het
Dpp6	T	A	5: 27,857,274 (GRCm39)	D406E	probably benign	Het
Dsp	C	T	13: 38,359,183 (GRCm39)	A318V	possibly damaging	Het
Duox1	T	C	2: 122,160,120 (GRCm39)	L745P	possibly damaging	Het
Ell	C	A	8: 70,992,364 (GRCm39)	A3E	possibly damaging	Het
Fer1l5	T	A	1: 36,459,775 (GRCm39)	L1832*	probably null	Het
Filip1	G	T	9: 79,727,931 (GRCm39)	N229K	probably benign	Het
Flg	A	T	3: 93,200,089 (GRCm39)	H195L	unknown	Het
Fndc7	G	T	3: 108,770,129 (GRCm39)	P685H	probably damaging	Het
Ggt1	A	G	10: 75,412,116 (GRCm39)	N120S	probably benign	Het
Gm4952	A	T	19: 12,604,428 (GRCm39)	H280L	probably benign	Het
Golim4	A	T	3: 75,794,091 (GRCm39)	D551E	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hmbs	A	C	9: 44,248,147 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,273,054 (GRCm39)	D474G	probably benign	Het
Ipo4	A	C	14: 55,869,787 (GRCm39)	H343Q	probably damaging	Het
Jade2	C	T	11: 51,707,744 (GRCm39)	R823H	probably damaging	Het
Jakmip1	C	T	5: 37,274,841 (GRCm39)	T453I	probably damaging	Het
Klk6	T	C	7: 43,478,689 (GRCm39)	S199P	probably damaging	Het
Ltn1	A	T	16: 87,223,166 (GRCm39)	Y105N	probably damaging	Het
Map3k19	G	T	1: 127,756,827 (GRCm39)	T394N	probably damaging	Het
Megf6	G	A	4: 154,354,927 (GRCm39)	D1445N	probably benign	Het
Mmp21	A	G	7: 133,280,791 (GRCm39)	Y60H	probably damaging	Het
Mylk4	C	T	13: 32,904,585 (GRCm39)		probably null	Het
Nckipsd	A	T	9: 108,691,216 (GRCm39)	R38*	probably null	Het
Nob1	G	A	8: 108,139,737 (GRCm39)	R341*	probably null	Het
Or11g25	A	G	14: 50,723,751 (GRCm39)	T279A	possibly damaging	Het
Or1e19	T	A	11: 73,324,175 (GRCm39)		probably benign	Het
Or5ac22	A	G	16: 59,134,997 (GRCm39)	Y258H	probably damaging	Het
Pcdh1	A	G	18: 38,336,569 (GRCm39)	L22P	unknown	Het
Pebp4	T	A	14: 70,297,056 (GRCm39)	N198K	probably benign	Het
Pkp4	T	C	2: 59,138,757 (GRCm39)	S336P	probably damaging	Het
Prr5l	T	A	2: 101,547,442 (GRCm39)	D361V	probably benign	Het
Ralgapa1	C	G	12: 55,756,340 (GRCm39)	V1086L	probably damaging	Het
Ralgapa1	T	A	12: 55,756,341 (GRCm39)	Q1085H	probably damaging	Het
Ryr2	T	C	13: 11,705,219 (GRCm39)	N2849S	probably damaging	Het
Slc6a18	A	T	13: 73,820,915 (GRCm39)	L223H	probably damaging	Het
Sqstm1	T	G	11: 50,096,932 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,195,835 (GRCm39)	E3945G	probably damaging	Het
Syne2	A	G	12: 76,037,161 (GRCm39)	Y3780C	probably benign	Het
Tecpr1	A	G	5: 144,140,236 (GRCm39)	Y840H	probably damaging	Het
Tmem183a	T	C	1: 134,288,539 (GRCm39)	Q108R	probably benign	Het
Tmtc1	A	T	6: 148,345,415 (GRCm39)	C95S	probably benign	Het
Trappc8	C	T	18: 20,958,119 (GRCm39)	V1250I	probably damaging	Het
Tshz1	A	G	18: 84,032,461 (GRCm39)	V649A	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn1r123	A	C	7: 20,896,302 (GRCm39)	T65P	probably damaging	Het
Vmn2r63	A	T	7: 42,577,553 (GRCm39)	H328Q	possibly damaging	Het
Zeb1	T	C	18: 5,766,802 (GRCm39)	S438P	probably damaging	Het

Other mutations in Banp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02423:Banp	APN	8	122,733,830 (GRCm39)	missense	probably benign	0.02
IGL02981:Banp	APN	8	122,705,303 (GRCm39)	missense	possibly damaging	0.89
PIT4418001:Banp	UTSW	8	122,732,365 (GRCm39)	missense	probably damaging	1.00
R0926:Banp	UTSW	8	122,747,294 (GRCm39)	missense	probably benign
R1209:Banp	UTSW	8	122,702,656 (GRCm39)	missense	possibly damaging	0.79
R1635:Banp	UTSW	8	122,727,750 (GRCm39)	missense	probably damaging	1.00
R2229:Banp	UTSW	8	122,705,424 (GRCm39)	missense	probably damaging	0.99
R2269:Banp	UTSW	8	122,702,662 (GRCm39)	missense	probably benign	0.01
R3052:Banp	UTSW	8	122,732,426 (GRCm39)	splice site	probably null
R5155:Banp	UTSW	8	122,727,759 (GRCm39)	missense	probably damaging	1.00
R5554:Banp	UTSW	8	122,718,334 (GRCm39)	missense	probably damaging	1.00
R6479:Banp	UTSW	8	122,718,176 (GRCm39)	splice site	probably null
R7376:Banp	UTSW	8	122,701,236 (GRCm39)	missense	probably damaging	0.99
R7468:Banp	UTSW	8	122,676,588 (GRCm39)	critical splice donor site	probably null
R7646:Banp	UTSW	8	122,750,775 (GRCm39)	missense	possibly damaging	0.94
R7832:Banp	UTSW	8	122,747,291 (GRCm39)	missense	probably benign
R8784:Banp	UTSW	8	122,727,852 (GRCm39)	missense	probably damaging	0.98
R8793:Banp	UTSW	8	122,750,743 (GRCm39)	missense	probably benign	0.01
R9005:Banp	UTSW	8	122,705,441 (GRCm39)	missense	possibly damaging	0.76
R9106:Banp	UTSW	8	122,705,372 (GRCm39)	missense	possibly damaging	0.62
R9790:Banp	UTSW	8	122,701,285 (GRCm39)	missense	probably benign	0.00
R9791:Banp	UTSW	8	122,701,285 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGATTGCAAGGGCTTATTAGAC -3'
(R):5'- CCATCGCACTTTGTTGCAGG -3'

Sequencing Primer
(F):5'- CTTATTAGACACAGAGGGCTGAATCC -3'
(R):5'- CGCACTTTGTTGCAGGTCTGG -3'

Posted On

2019-11-12