Mutagenetix > Incidental Mutation

Incidental Mutation 'R7438:Baiap3'

576784

Institutional Source

Beutler Lab

Gene Symbol

Baiap3

Ensembl Gene

ENSMUSG00000047507

Gene Name

BAI1-associated protein 3

Synonyms

LOC381076

MMRRC Submission

045514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25461633-25475255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25468082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 311 (C311R)

Ref Sequence

ENSEMBL: ENSMUSP00000138188 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507
AA Change: C288R

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

possibly damaging
Transcript: ENSMUST00000182056
AA Change: C311R

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507
AA Change: C311R

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

possibly damaging
Transcript: ENSMUST00000182435
AA Change: C283R

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507
AA Change: C283R

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

probably benign
Transcript: ENSMUST00000182696

Predicted Effect

probably damaging
Transcript: ENSMUST00000182825
AA Change: C311R

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

SMART Domains

Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507
AA Change: C311R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (88/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,853,858 (GRCm39)	S425G	probably benign	Het
Adam29	A	G	8: 56,324,609 (GRCm39)	I615T	probably damaging	Het
Arap2	A	T	5: 62,906,818 (GRCm39)	I67N	probably damaging	Het
Asxl2	C	T	12: 3,477,108 (GRCm39)		probably benign	Het
Atp13a4	C	T	16: 29,260,014 (GRCm39)	G607D		Het
Atp2c2	G	A	8: 120,474,936 (GRCm39)	V514M	probably damaging	Het
Becn1	A	C	11: 101,185,052 (GRCm39)	S137R	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
C8a	T	C	4: 104,718,626 (GRCm39)	K110E	probably damaging	Het
Camta2	A	G	11: 70,574,714 (GRCm39)		probably null	Het
Capn8	T	A	1: 182,426,240 (GRCm39)	Y192N	probably damaging	Het
Ccdc170	C	T	10: 4,508,512 (GRCm39)	Q579*	probably null	Het
Cenpa	G	T	5: 30,824,292 (GRCm39)		probably benign	Het
Cltc	A	G	11: 86,616,054 (GRCm39)	V404A	probably benign	Het
Cyp3a11	A	T	5: 145,802,710 (GRCm39)	L261Q	probably benign	Het
Daw1	T	A	1: 83,170,436 (GRCm39)	S249R	probably benign	Het
Dchs1	T	A	7: 105,404,155 (GRCm39)	I2796F	probably benign	Het
Dis3l2	T	C	1: 86,673,222 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,347,098 (GRCm39)	D2527V	probably damaging	Het
Dsg4	G	A	18: 20,599,685 (GRCm39)	R767Q	probably damaging	Het
Edaradd	A	G	13: 12,493,338 (GRCm39)	I118T	probably damaging	Het
Fam83h	A	G	15: 75,876,275 (GRCm39)	F354S	possibly damaging	Het
Fat3	A	G	9: 15,899,778 (GRCm39)	V3085A	probably benign	Het
Fer	A	G	17: 64,440,516 (GRCm39)	D711G	possibly damaging	Het
G6pc1	G	T	11: 101,267,503 (GRCm39)	V318F	probably benign	Het
Gal3st1	C	A	11: 3,948,227 (GRCm39)	H145N	probably benign	Het
Helz	C	T	11: 107,552,856 (GRCm39)	P1211S	probably damaging	Het
Herc1	A	G	9: 66,302,038 (GRCm39)	I667V	probably benign	Het
Herc2	T	A	7: 55,753,466 (GRCm39)		probably null	Het
Hivep1	C	T	13: 42,308,387 (GRCm39)	T209I	probably damaging	Het
Hsph1	A	G	5: 149,542,485 (GRCm39)	Y678H	probably damaging	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ighv1-23	T	C	12: 114,728,095 (GRCm39)	D109G	probably damaging	Het
Itgb3	T	C	11: 104,534,403 (GRCm39)	V420A	possibly damaging	Het
Kcnk13	C	A	12: 100,027,985 (GRCm39)	N353K	probably damaging	Het
Kif21a	A	G	15: 90,877,999 (GRCm39)	F270L	probably benign	Het
Kit	T	A	5: 75,799,660 (GRCm39)	V464D	probably benign	Het
Klhl36	G	A	8: 120,596,914 (GRCm39)	W205*	probably null	Het
Krt17	A	G	11: 100,149,291 (GRCm39)	Y260H	probably damaging	Het
Lats1	C	T	10: 7,588,706 (GRCm39)	Q1108*	probably null	Het
Lrch1	G	A	14: 74,994,477 (GRCm39)	T709I	possibly damaging	Het
Lrrc58	C	A	16: 37,689,053 (GRCm39)	Q66K	probably benign	Het
Mei1	G	A	15: 81,999,682 (GRCm39)	A664T		Het
Mtmr6	C	T	14: 60,537,753 (GRCm39)	T546M	probably benign	Het
Ncoa3	T	A	2: 165,910,449 (GRCm39)	F1288L	probably damaging	Het
Nwd1	G	T	8: 73,434,458 (GRCm39)	V1352L	probably benign	Het
Or4k77	T	A	2: 111,199,707 (GRCm39)	H243Q	probably damaging	Het
Or5ac17	A	T	16: 59,036,761 (GRCm39)	C72S	probably benign	Het
Ovol3	C	T	7: 29,934,646 (GRCm39)		probably null	Het
Palb2	C	A	7: 121,716,554 (GRCm39)	V843L	probably damaging	Het
Pds5a	T	A	5: 65,809,878 (GRCm39)		probably null	Het
Per1	A	G	11: 68,995,561 (GRCm39)	S714G	possibly damaging	Het
Plch2	G	A	4: 155,084,917 (GRCm39)	R442C	probably damaging	Het
Pon2	A	T	6: 5,289,080 (GRCm39)	S26R	probably benign	Het
Ppp1r9a	A	T	6: 5,115,378 (GRCm39)	N834Y	probably damaging	Het
Pramel22	T	C	4: 143,382,130 (GRCm39)	I189V	probably damaging	Het
Rbm46	C	T	3: 82,749,795 (GRCm39)	W483*	probably null	Het
Rnd1	A	T	15: 98,571,782 (GRCm39)	V88E	probably damaging	Het
Sbno2	T	A	10: 79,905,409 (GRCm39)	T142S	unknown	Het
Scn9a	C	T	2: 66,377,531 (GRCm39)	V384M	possibly damaging	Het
Sertad4	T	A	1: 192,529,018 (GRCm39)	H266L	possibly damaging	Het
Setd5	T	A	6: 113,092,043 (GRCm39)	M288K	possibly damaging	Het
Sfxn4	T	A	19: 60,845,799 (GRCm39)	N66Y	probably damaging	Het
Sinhcaf	A	G	6: 148,834,600 (GRCm39)	Y10H	probably benign	Het
Skint6	T	A	4: 113,095,425 (GRCm39)	N78I	probably damaging	Het
Sltm	G	T	9: 70,480,748 (GRCm39)	G200V	unknown	Het
Smg1	A	G	7: 117,795,116 (GRCm39)	I477T	unknown	Het
Supv3l1	C	T	10: 62,266,249 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,062,337 (GRCm39)	R4220G	probably benign	Het
Tbr1	A	T	2: 61,635,161 (GRCm39)	H37L	possibly damaging	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Tmem231	G	T	8: 112,645,040 (GRCm39)	S155R	probably damaging	Het
Trem3	A	G	17: 48,565,498 (GRCm39)	*184W	probably null	Het
Trim33	T	A	3: 103,253,956 (GRCm39)		probably benign	Het
Tsen2	G	A	6: 115,536,943 (GRCm39)	W233*	probably null	Het
Ttc21a	T	A	9: 119,774,605 (GRCm39)	N286K	probably damaging	Het
Tulp4	A	T	17: 6,248,983 (GRCm39)	M194L	probably benign	Het
Ube3b	C	A	5: 114,553,345 (GRCm39)	R906S	possibly damaging	Het
Ube3b	A	C	5: 114,556,687 (GRCm39)	D1006A	probably damaging	Het
Vipas39	A	T	12: 87,288,705 (GRCm39)		probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Zan	T	G	5: 137,423,824 (GRCm39)	I2692L	unknown	Het
Zfp142	C	A	1: 74,624,679 (GRCm39)	E48D	probably benign	Het
Zfp598	T	C	17: 24,896,504 (GRCm39)	Y194H	probably damaging	Het
Zfp85	T	C	13: 67,897,064 (GRCm39)	N336S	probably benign	Het
Zfyve27	A	T	19: 42,177,959 (GRCm39)		probably null	Het
Zp3	T	C	5: 136,011,559 (GRCm39)	S126P	probably damaging	Het

Other mutations in Baiap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Baiap3	APN	17	25,463,302 (GRCm39)	missense	probably damaging	1.00
IGL00486:Baiap3	APN	17	25,467,351 (GRCm39)	splice site	probably benign
IGL00820:Baiap3	APN	17	25,467,664 (GRCm39)	missense	probably benign	0.20
IGL01443:Baiap3	APN	17	25,464,121 (GRCm39)	missense	possibly damaging	0.92
IGL02282:Baiap3	APN	17	25,468,351 (GRCm39)	missense	probably benign	0.11
IGL02341:Baiap3	APN	17	25,467,290 (GRCm39)	missense	possibly damaging	0.52
IGL02669:Baiap3	APN	17	25,463,322 (GRCm39)	missense	probably damaging	1.00
IGL02863:Baiap3	APN	17	25,463,476 (GRCm39)	splice site	probably benign
IGL02993:Baiap3	APN	17	25,469,056 (GRCm39)	critical splice donor site	probably null
R0021:Baiap3	UTSW	17	25,462,643 (GRCm39)	missense	probably damaging	1.00
R0090:Baiap3	UTSW	17	25,469,044 (GRCm39)	splice site	probably benign
R0276:Baiap3	UTSW	17	25,462,661 (GRCm39)	missense	probably damaging	1.00
R0488:Baiap3	UTSW	17	25,467,444 (GRCm39)	critical splice donor site	probably null
R0826:Baiap3	UTSW	17	25,464,203 (GRCm39)	missense	possibly damaging	0.89
R0883:Baiap3	UTSW	17	25,468,075 (GRCm39)	missense	probably damaging	1.00
R1700:Baiap3	UTSW	17	25,468,302 (GRCm39)	missense	probably damaging	1.00
R1702:Baiap3	UTSW	17	25,463,779 (GRCm39)	missense	probably damaging	1.00
R2336:Baiap3	UTSW	17	25,469,378 (GRCm39)	missense	probably damaging	1.00
R2762:Baiap3	UTSW	17	25,463,549 (GRCm39)	missense	probably damaging	1.00
R4454:Baiap3	UTSW	17	25,468,510 (GRCm39)	missense	probably damaging	1.00
R4540:Baiap3	UTSW	17	25,465,644 (GRCm39)	missense	probably damaging	1.00
R4609:Baiap3	UTSW	17	25,469,235 (GRCm39)	missense	probably damaging	1.00
R4816:Baiap3	UTSW	17	25,466,269 (GRCm39)	splice site	probably benign
R4979:Baiap3	UTSW	17	25,465,336 (GRCm39)	missense	possibly damaging	0.57
R5069:Baiap3	UTSW	17	25,468,082 (GRCm39)	missense	probably damaging	0.99
R5070:Baiap3	UTSW	17	25,468,082 (GRCm39)	missense	probably damaging	0.99
R5093:Baiap3	UTSW	17	25,469,243 (GRCm39)	missense	probably damaging	1.00
R5130:Baiap3	UTSW	17	25,464,316 (GRCm39)	missense	probably benign	0.01
R5566:Baiap3	UTSW	17	25,470,707 (GRCm39)	missense	probably damaging	1.00
R5572:Baiap3	UTSW	17	25,470,449 (GRCm39)	missense	possibly damaging	0.86
R5681:Baiap3	UTSW	17	25,468,347 (GRCm39)	missense	probably damaging	1.00
R5730:Baiap3	UTSW	17	25,466,498 (GRCm39)	missense	probably benign	0.01
R5743:Baiap3	UTSW	17	25,463,759 (GRCm39)	missense	probably benign	0.02
R5805:Baiap3	UTSW	17	25,466,489 (GRCm39)	missense	probably benign	0.12
R6038:Baiap3	UTSW	17	25,465,308 (GRCm39)	missense	probably damaging	1.00
R6038:Baiap3	UTSW	17	25,465,308 (GRCm39)	missense	probably damaging	1.00
R6052:Baiap3	UTSW	17	25,467,444 (GRCm39)	critical splice donor site	probably benign
R6238:Baiap3	UTSW	17	25,464,732 (GRCm39)	missense	probably benign	0.00
R6700:Baiap3	UTSW	17	25,463,000 (GRCm39)	missense	probably damaging	1.00
R7037:Baiap3	UTSW	17	25,462,814 (GRCm39)	missense	probably benign
R7038:Baiap3	UTSW	17	25,462,814 (GRCm39)	missense	probably benign
R7039:Baiap3	UTSW	17	25,462,814 (GRCm39)	missense	probably benign
R7126:Baiap3	UTSW	17	25,464,119 (GRCm39)	missense	possibly damaging	0.64
R7198:Baiap3	UTSW	17	25,462,814 (GRCm39)	missense	probably benign
R7223:Baiap3	UTSW	17	25,462,814 (GRCm39)	missense	probably benign
R7291:Baiap3	UTSW	17	25,463,291 (GRCm39)	missense	probably damaging	1.00
R7687:Baiap3	UTSW	17	25,468,311 (GRCm39)	missense	possibly damaging	0.88
R7877:Baiap3	UTSW	17	25,470,112 (GRCm39)	missense	probably damaging	0.99
R8172:Baiap3	UTSW	17	25,463,096 (GRCm39)	missense	probably damaging	1.00
R8184:Baiap3	UTSW	17	25,467,499 (GRCm39)	missense	probably benign	0.00
R8230:Baiap3	UTSW	17	25,465,827 (GRCm39)	missense	probably benign	0.00
R8240:Baiap3	UTSW	17	25,464,288 (GRCm39)	critical splice donor site	probably null
R8394:Baiap3	UTSW	17	25,469,096 (GRCm39)	missense	probably benign
R8972:Baiap3	UTSW	17	25,466,010 (GRCm39)	missense	probably benign	0.04
R9274:Baiap3	UTSW	17	25,463,354 (GRCm39)	missense	probably damaging	0.96
R9333:Baiap3	UTSW	17	25,467,676 (GRCm39)	missense	possibly damaging	0.54
R9388:Baiap3	UTSW	17	25,466,109 (GRCm39)	critical splice donor site	probably null
X0017:Baiap3	UTSW	17	25,467,324 (GRCm39)	missense	possibly damaging	0.92
Z1176:Baiap3	UTSW	17	25,463,742 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AACAGGACTAACGACCCTCTGG -3'
(R):5'- TAACCCTAGACCTGTGCATGC -3'

Sequencing Primer
(F):5'- TCTGGGACCTCAGAATGCTG -3'
(R):5'- CTAGACCTGTGCATGCAGCTTAG -3'

Posted On

2019-10-07