Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00823:Baiap2l2'

9196

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Baiap2l2

Ensembl Gene

ENSMUSG00000018126

Gene Name

BAI1-associated protein 2-like 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00823

Quality Score

Status

Chromosome

Chromosomal Location

79258195-79285537 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 79284565 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000165408] [ENSMUST00000166977] [ENSMUST00000169462] [ENSMUST00000170955] [ENSMUST00000172403] [ENSMUST00000173163] [ENSMUST00000174021]

Predicted Effect

probably benign
Transcript: ENSMUST00000047816

SMART Domains

Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165408

SMART Domains

Protein: ENSMUSP00000127816
Gene: ENSMUSG00000018126

Domain	Start	End	E-Value	Type
Pfam:IMD	16	226	1e-90	PFAM
low complexity region	232	244	N/A	INTRINSIC
SH3	327	386	2.54e-9	SMART
low complexity region	389	409	N/A	INTRINSIC
low complexity region	443	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166977

SMART Domains

Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169462

SMART Domains

Protein: ENSMUSP00000130698
Gene: ENSMUSG00000018126

Domain	Start	End	E-Value	Type
Pfam:IMD	16	226	3.8e-83	PFAM
low complexity region	232	244	N/A	INTRINSIC
low complexity region	258	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170955

SMART Domains

Protein: ENSMUSP00000125946
Gene: ENSMUSG00000018126

Domain	Start	End	E-Value	Type
Pfam:IMD	16	211	1.4e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172403

SMART Domains

Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173163

SMART Domains

Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174021

SMART Domains

Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Blast:ANK	382	411	2e-8	BLAST
Pfam:Patatin	482	666	2.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229011

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 76,878,534		probably benign	Het
Adam5	T	C	8: 24,818,742	E39G	probably benign	Het
Anapc7	G	A	5: 122,433,477	W205*	probably null	Het
Arhgap5	C	T	12: 52,518,742	T832I	possibly damaging	Het
Arhgef10	T	A	8: 14,940,378		probably benign	Het
Atg5	A	G	10: 44,363,044	T274A	probably benign	Het
Brap	T	A	5: 121,665,227	M146K	probably damaging	Het
Brpf1	T	C	6: 113,321,886	S1074P	probably benign	Het
Camta1	A	C	4: 151,084,601	I231R	probably benign	Het
Ccdc15	C	T	9: 37,320,413	G205D	probably benign	Het
Cd6	G	T	19: 10,796,394		probably benign	Het
Cdh17	T	G	4: 11,783,412	S219R	possibly damaging	Het
Cgn	G	A	3: 94,767,209	R873W	probably damaging	Het
Ctnna3	C	T	10: 63,537,543	P41L	possibly damaging	Het
Dmbt1	T	C	7: 131,058,158	W484R	probably benign	Het
Dmd	A	G	X: 84,425,813		probably null	Het
Dnah17	C	T	11: 118,047,161	V3347I	probably benign	Het
Fam122b	A	T	X: 53,245,331	C222S	probably damaging	Het
Fgd5	T	A	6: 91,988,459	S400T	possibly damaging	Het
Kitl	C	A	10: 100,087,344		probably benign	Het
Lamc3	A	T	2: 31,918,521	D763V	probably damaging	Het
Lgmn	T	C	12: 102,398,176		probably benign	Het
Lpcat2	T	G	8: 92,864,970	W81G	possibly damaging	Het
Myh13	A	G	11: 67,355,947	I1165V	probably benign	Het
Nf1	A	G	11: 79,565,517	D599G	probably damaging	Het
Nin	T	C	12: 70,014,793	N2099S	probably benign	Het
Nlrc4	T	C	17: 74,447,990	D77G	probably benign	Het
Otub1	A	G	19: 7,204,051		probably benign	Het
Pah	A	G	10: 87,570,331	Y174C	probably null	Het
Papd4	T	C	13: 93,186,397	T15A	probably benign	Het
Rbbp5	G	A	1: 132,489,706	V88I	probably damaging	Het
Scn1a	C	T	2: 66,324,935	R560H	probably benign	Het
Snx5	T	C	2: 144,255,565	I217V	probably benign	Het
Syne2	T	C	12: 75,989,242	S3769P	probably damaging	Het
Tmem255b	T	C	8: 13,457,054	M261T	probably benign	Het
Top3b	T	C	16: 16,887,622	I417T	probably damaging	Het
Tspan2	T	C	3: 102,758,233		probably null	Het
Ttn	T	C	2: 76,709,713	T34310A	possibly damaging	Het
Ush2a	G	A	1: 188,911,443	C4334Y	possibly damaging	Het
Wdpcp	A	G	11: 21,659,995	D21G	probably damaging	Het
Yy2	A	C	X: 157,568,211	D186E	probably benign	Het

Other mutations in Baiap2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03139:Baiap2l2	APN	15	79271553	missense	probably damaging	1.00
R0403:Baiap2l2	UTSW	15	79271216	missense	probably benign	0.01
R0532:Baiap2l2	UTSW	15	79284076	missense	possibly damaging	0.73
R1017:Baiap2l2	UTSW	15	79261243	missense	probably benign	0.02
R2163:Baiap2l2	UTSW	15	79259195	missense	possibly damaging	0.60
R2566:Baiap2l2	UTSW	15	79261974	splice site	probably null
R4687:Baiap2l2	UTSW	15	79259253	missense	probably damaging	1.00
R4740:Baiap2l2	UTSW	15	79259751	missense	probably benign	0.44
R5217:Baiap2l2	UTSW	15	79270487	missense	probably benign	0.07
R5571:Baiap2l2	UTSW	15	79271583	missense	probably damaging	1.00
R6159:Baiap2l2	UTSW	15	79259730	missense	probably benign
R6961:Baiap2l2	UTSW	15	79284635	missense	probably damaging	1.00
R7709:Baiap2l2	UTSW	15	79259711	missense	probably benign

Posted On

2012-12-06