Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Baiap3'

35423

Institutional Source

Beutler Lab

Gene Symbol

Baiap3

Ensembl Gene

ENSMUSG00000047507

Gene Name

BAI1-associated protein 3

Synonyms

LOC381076

MMRRC Submission

038498-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0276 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

25242659-25256364 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25243687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 1099 (F1099C)

Ref Sequence

ENSEMBL: ENSMUSP00000138254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038973] [ENSMUST00000063574] [ENSMUST00000115154] [ENSMUST00000169109] [ENSMUST00000182056] [ENSMUST00000182435] [ENSMUST00000182825]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038973

SMART Domains

Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	152	1.4e-10	PFAM
DMAP_binding	176	278	2.55e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063574

SMART Domains

Protein: ENSMUSP00000068511
Gene: ENSMUSG00000015126

Domain	Start	End	E-Value	Type
Pfam:RLI	58	92	8.2e-17	PFAM
Pfam:DUF367	96	222	1.3e-56	PFAM
low complexity region	261	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115154

SMART Domains

Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	151	3.9e-11	PFAM
DMAP_binding	183	285	2.55e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169109
AA Change: F1112C

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

SMART Domains

Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507
AA Change: F1112C

Domain	Start	End	E-Value	Type
C2	159	328	4.73e-17	SMART
low complexity region	361	379	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	497	509	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	857	868	N/A	INTRINSIC
Pfam:Membr_traf_MHD	896	958	8e-10	PFAM
C2	989	1097	7.06e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175461

Predicted Effect

probably damaging
Transcript: ENSMUST00000182056
AA Change: F1135C

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

SMART Domains

Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507
AA Change: F1135C

Domain	Start	End	E-Value	Type
C2	159	328	4.73e-17	SMART
low complexity region	361	379	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	497	509	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
Pfam:Membr_traf_MHD	851	959	3.3e-30	PFAM
C2	989	1097	7.06e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182126

Predicted Effect

probably damaging
Transcript: ENSMUST00000182435
AA Change: F1107C

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

SMART Domains

Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507
AA Change: F1107C

Domain	Start	End	E-Value	Type
C2	131	300	4.73e-17	SMART
low complexity region	333	351	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	664	676	N/A	INTRINSIC
Pfam:Membr_traf_MHD	823	931	3.2e-30	PFAM
C2	961	1069	7.06e-16	SMART

Predicted Effect

silent
Transcript: ENSMUST00000182696

Predicted Effect

probably damaging
Transcript: ENSMUST00000182825
AA Change: F1099C

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

SMART Domains

Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507
AA Change: F1099C

Domain	Start	End	E-Value	Type
C2	159	284	4.05e-16	SMART
low complexity region	325	343	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC
low complexity region	461	473	N/A	INTRINSIC
low complexity region	656	668	N/A	INTRINSIC
Pfam:Membr_traf_MHD	815	923	3.2e-30	PFAM
C2	953	1061	7.06e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182922

Meta Mutation Damage Score

0.3794

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile but exhibit increased PTZ-induced seizure propensity, as well as increased novelty-induced anxiety in both genders, with a more pronounced effect in females, and a faster developmentof tolerance to benzodiazepines in male mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472		probably benign	Het
Aspm	T	C	1: 139,478,471	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673		probably benign	Het
Bcas3	T	A	11: 85,470,837		probably null	Het
Bms1	G	A	6: 118,408,134	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065		probably benign	Het
Ccdc180	A	G	4: 45,923,534	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740		probably benign	Het
Cntrl	A	T	2: 35,151,732	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045	T319I	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998	R502Q	probably benign	Het
Efcab5	A	G	11: 77,129,876	M673T	probably damaging	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
F2rl3	A	G	8: 72,762,798	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575		probably benign	Het
Haspin	A	T	11: 73,136,487	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650		probably benign	Het
Kmt2d	T	C	15: 98,850,311		probably benign	Het
Lars2	A	G	9: 123,438,121		probably benign	Het
Lilrb4a	T	C	10: 51,491,581	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263		probably benign	Het
Mc2r	A	T	18: 68,408,132	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107		probably null	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629		probably benign	Het
Nlk	T	C	11: 78,571,475	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162		probably null	Het
Olfr1212	T	A	2: 88,958,755	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049		probably benign	Het
Prrc2b	G	A	2: 32,219,654	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735		probably null	Het
Rab5b	A	C	10: 128,686,746		probably null	Het
Rft1	T	A	14: 30,690,583	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rsu1	A	T	2: 13,170,135		probably benign	Het
Senp6	A	G	9: 80,136,747	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663		probably benign	Het
Snx29	T	C	16: 11,738,373	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416		probably null	Het
Stx6	T	C	1: 155,174,163		probably benign	Het
Thbs4	G	A	13: 92,775,532	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373		probably benign	Het
Top2a	A	G	11: 99,009,907		probably benign	Het
Tpd52l2	T	C	2: 181,502,059		probably null	Het
Trak1	A	G	9: 121,454,338	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086	M1V	probably null	Het
Triobp	T	A	15: 78,973,676	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297		probably benign	Het
Usb1	A	G	8: 95,333,457	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507	C1089G	probably damaging	Het

Other mutations in Baiap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Baiap3	APN	17	25244328	missense	probably damaging	1.00
IGL00486:Baiap3	APN	17	25248377	splice site	probably benign
IGL00820:Baiap3	APN	17	25248690	missense	probably benign	0.20
IGL01443:Baiap3	APN	17	25245147	missense	possibly damaging	0.92
IGL02282:Baiap3	APN	17	25249377	missense	probably benign	0.11
IGL02341:Baiap3	APN	17	25248316	missense	possibly damaging	0.52
IGL02669:Baiap3	APN	17	25244348	missense	probably damaging	1.00
IGL02863:Baiap3	APN	17	25244502	splice site	probably benign
IGL02993:Baiap3	APN	17	25250082	critical splice donor site	probably null
R0021:Baiap3	UTSW	17	25243669	missense	probably damaging	1.00
R0090:Baiap3	UTSW	17	25250070	splice site	probably benign
R0488:Baiap3	UTSW	17	25248470	critical splice donor site	probably null
R0826:Baiap3	UTSW	17	25245229	missense	possibly damaging	0.89
R0883:Baiap3	UTSW	17	25249101	missense	probably damaging	1.00
R1700:Baiap3	UTSW	17	25249328	missense	probably damaging	1.00
R1702:Baiap3	UTSW	17	25244805	missense	probably damaging	1.00
R2336:Baiap3	UTSW	17	25250404	missense	probably damaging	1.00
R2762:Baiap3	UTSW	17	25244575	missense	probably damaging	1.00
R4454:Baiap3	UTSW	17	25249536	missense	probably damaging	1.00
R4540:Baiap3	UTSW	17	25246670	missense	probably damaging	1.00
R4609:Baiap3	UTSW	17	25250261	missense	probably damaging	1.00
R4816:Baiap3	UTSW	17	25247295	splice site	probably benign
R4979:Baiap3	UTSW	17	25246362	missense	possibly damaging	0.57
R5069:Baiap3	UTSW	17	25249108	missense	probably damaging	0.99
R5070:Baiap3	UTSW	17	25249108	missense	probably damaging	0.99
R5093:Baiap3	UTSW	17	25250269	missense	probably damaging	1.00
R5130:Baiap3	UTSW	17	25245342	missense	probably benign	0.01
R5566:Baiap3	UTSW	17	25251733	missense	probably damaging	1.00
R5572:Baiap3	UTSW	17	25251475	missense	possibly damaging	0.86
R5681:Baiap3	UTSW	17	25249373	missense	probably damaging	1.00
R5730:Baiap3	UTSW	17	25247524	missense	probably benign	0.01
R5743:Baiap3	UTSW	17	25244785	missense	probably benign	0.02
R5805:Baiap3	UTSW	17	25247515	missense	probably benign	0.12
R6038:Baiap3	UTSW	17	25246334	missense	probably damaging	1.00
R6038:Baiap3	UTSW	17	25246334	missense	probably damaging	1.00
R6052:Baiap3	UTSW	17	25248470	critical splice donor site	probably benign
R6238:Baiap3	UTSW	17	25245758	missense	probably benign	0.00
R6700:Baiap3	UTSW	17	25244026	missense	probably damaging	1.00
R7037:Baiap3	UTSW	17	25243840	missense	probably benign
R7038:Baiap3	UTSW	17	25243840	missense	probably benign
R7039:Baiap3	UTSW	17	25243840	missense	probably benign
R7126:Baiap3	UTSW	17	25245145	missense	possibly damaging	0.64
R7198:Baiap3	UTSW	17	25243840	missense	probably benign
R7223:Baiap3	UTSW	17	25243840	missense	probably benign
R7291:Baiap3	UTSW	17	25244317	missense	probably damaging	1.00
R7438:Baiap3	UTSW	17	25249108	missense	possibly damaging	0.91
R7687:Baiap3	UTSW	17	25249337	missense	possibly damaging	0.88
R7877:Baiap3	UTSW	17	25251138	missense	probably damaging	0.99
R8172:Baiap3	UTSW	17	25244122	missense	probably damaging	1.00
R8184:Baiap3	UTSW	17	25248525	missense	probably benign	0.00
R8230:Baiap3	UTSW	17	25246853	missense	probably benign	0.00
R8240:Baiap3	UTSW	17	25245314	critical splice donor site	probably null
R8394:Baiap3	UTSW	17	25250122	missense	probably benign
R8972:Baiap3	UTSW	17	25247036	missense	probably benign	0.04
R9274:Baiap3	UTSW	17	25244380	missense	probably damaging	0.96
R9333:Baiap3	UTSW	17	25248702	missense	possibly damaging	0.54
R9388:Baiap3	UTSW	17	25247135	critical splice donor site	probably null
X0017:Baiap3	UTSW	17	25248350	missense	possibly damaging	0.92
Z1176:Baiap3	UTSW	17	25244768	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GTCCTGAGAGCATATGACCACTGC -3'
(R):5'- GGCTGTCCACCAATGACTTTGCTG -3'

Sequencing Primer
(F):5'- AGCATATGACCACTGCTCTGG -3'
(R):5'- CATCAGTGGCATCGCAAG -3'

Posted On

2013-05-09