Mutagenetix > Incidental Mutation

Incidental Mutation 'R6981:Baiap2l1'

542667

Institutional Source

Beutler Lab

Gene Symbol

Baiap2l1

Ensembl Gene

ENSMUSG00000038859

Gene Name

BAI1-associated protein 2-like 1

Synonyms

1300006M19Rik, IRTKS

MMRRC Submission

045089-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6981 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144201336-144294922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144222389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 122 (Y122F)

Ref Sequence

ENSEMBL: ENSMUSP00000053129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055190] [ENSMUST00000155491]

AlphaFold

Q9DBJ3

PDB Structure

Solution Structure of RSGI RUH-010, an SH3 Domain from Mouse cDNA [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055190
AA Change: Y122F

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053129
Gene: ENSMUSG00000038859
AA Change: Y122F

Domain	Start	End	E-Value	Type
Pfam:IMD	16	236	4.4e-65	PFAM
SH3	343	402	1.42e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155491

SMART Domains

Protein: ENSMUSP00000122016
Gene: ENSMUSG00000047843

Domain	Start	End	E-Value	Type
Pfam:DUF2367	27	90	1.1e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating glucose and insulin levels, impaired glucose tolerance and insulin resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,184,544 (GRCm39)		probably benign	Het
5031439G07Rik	A	C	15: 84,833,798 (GRCm39)	Y419*	probably null	Het
Abca2	T	A	2: 25,334,151 (GRCm39)	F1809L	probably damaging	Het
Ache	C	T	5: 137,289,940 (GRCm39)	T423I	probably benign	Het
Acvrl1	A	G	15: 101,036,226 (GRCm39)	T395A	probably damaging	Het
Ap3b2	A	G	7: 81,127,741 (GRCm39)	I145T	probably damaging	Het
Arhgef4	A	C	1: 34,761,533 (GRCm39)	Q263P	unknown	Het
Asgr2	C	T	11: 69,987,636 (GRCm39)	L45F	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Car8	A	T	4: 8,185,650 (GRCm39)		probably null	Het
Carns1	T	C	19: 4,220,081 (GRCm39)	T385A	probably benign	Het
Ccdc47	T	C	11: 106,093,563 (GRCm39)	T41A	probably benign	Het
Ccne1	A	T	7: 37,797,998 (GRCm39)		probably benign	Het
Cdh4	C	T	2: 179,439,297 (GRCm39)	T148I	probably benign	Het
Cep85	C	T	4: 133,879,572 (GRCm39)	R392Q	probably damaging	Het
Ces1h	T	C	8: 94,080,123 (GRCm39)	T464A	unknown	Het
Cfl1	T	A	19: 5,542,644 (GRCm39)	S41R	possibly damaging	Het
Crnn	T	C	3: 93,055,442 (GRCm39)	V76A	probably damaging	Het
Cspg4	A	G	9: 56,794,385 (GRCm39)	T707A	probably benign	Het
Dgkh	A	T	14: 78,865,182 (GRCm39)	C53*	probably null	Het
Dhx34	G	T	7: 15,949,255 (GRCm39)	A391E	possibly damaging	Het
Dlx1	C	A	2: 71,362,697 (GRCm39)	N201K	probably benign	Het
Dnah6	T	C	6: 72,998,161 (GRCm39)	E4087G	probably benign	Het
Dock6	T	C	9: 21,756,846 (GRCm39)	Y134C	probably damaging	Het
Duox2	A	G	2: 122,121,708 (GRCm39)	V662A	possibly damaging	Het
Dusp12	A	G	1: 170,708,530 (GRCm39)	F12L	probably damaging	Het
Eppk1	T	C	15: 75,995,237 (GRCm39)	E548G	probably benign	Het
Foxj2	A	G	6: 122,819,798 (GRCm39)	D562G	probably benign	Het
Foxj2	A	G	6: 122,805,403 (GRCm39)	I92V	probably damaging	Het
Gm17728	A	G	17: 9,640,991 (GRCm39)	R34G	probably damaging	Het
Gpc6	T	C	14: 117,861,960 (GRCm39)	I292T	probably damaging	Het
Gpr15	T	A	16: 58,538,548 (GRCm39)	K180N	probably benign	Het
Gtf2ird1	G	T	5: 134,412,776 (GRCm39)		probably benign	Het
H2ac12	A	G	13: 22,219,719 (GRCm39)	S2P	probably benign	Het
Hps3	T	A	3: 20,076,984 (GRCm39)	T393S	probably damaging	Het
Hspa1a	A	T	17: 35,189,267 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,257,704 (GRCm39)	E2378G	possibly damaging	Het
Ighv1-18	A	G	12: 114,646,298 (GRCm39)	L102P	probably damaging	Het
Itga5	T	A	15: 103,258,653 (GRCm39)	N814I	probably benign	Het
Kcnb2	T	C	1: 15,780,480 (GRCm39)	S451P	probably damaging	Het
Klhl32	T	G	4: 24,709,030 (GRCm39)	I112L	probably damaging	Het
Knstrn	T	G	2: 118,664,575 (GRCm39)	I47R	possibly damaging	Het
Med23	T	A	10: 24,771,722 (GRCm39)	S581T	possibly damaging	Het
Mgat5	C	T	1: 127,318,588 (GRCm39)	T361I	probably damaging	Het
Nipal3	A	G	4: 135,206,858 (GRCm39)	V112A	probably damaging	Het
Or10a5	T	A	7: 106,635,956 (GRCm39)	V198D	possibly damaging	Het
Or2b2	A	G	13: 21,887,243 (GRCm39)	E24G	probably benign	Het
Or4k41	T	C	2: 111,279,697 (GRCm39)	F71L	probably benign	Het
Or5g27	A	G	2: 85,409,825 (GRCm39)	M81V	probably benign	Het
Paxip1	G	A	5: 27,970,766 (GRCm39)	Q528*	probably null	Het
Proser2	T	C	2: 6,118,801 (GRCm39)	D14G	probably damaging	Het
Rp1	T	G	1: 4,415,878 (GRCm39)	I1745L	probably benign	Het
Rxfp2	G	T	5: 149,972,313 (GRCm39)		probably null	Het
Slc45a1	T	C	4: 150,723,051 (GRCm39)	S278G	possibly damaging	Het
Smurf1	A	G	5: 144,823,179 (GRCm39)	I455T	possibly damaging	Het
Speg	T	C	1: 75,407,557 (GRCm39)	L3188P	probably damaging	Het
Tcaf3	G	T	6: 42,574,059 (GRCm39)	A51D	probably damaging	Het
Tecrl	T	C	5: 83,502,768 (GRCm39)	N12S	possibly damaging	Het
Tmem17	T	A	11: 22,468,508 (GRCm39)	I149N	possibly damaging	Het
Tmem171	A	G	13: 98,828,976 (GRCm39)	V58A	possibly damaging	Het
Ttn	A	G	2: 76,691,521 (GRCm39)		probably benign	Het
Ubqln5	A	G	7: 103,777,808 (GRCm39)	S339P	probably benign	Het
Vmn1r16	T	A	6: 57,300,473 (GRCm39)	I50L	probably benign	Het
Vmn2r103	A	T	17: 20,013,739 (GRCm39)	Y177F	probably benign	Het
Zfp28	C	A	7: 6,397,692 (GRCm39)	T709K	probably damaging	Het
Zfp958	A	G	8: 4,676,170 (GRCm39)	N46S	probably benign	Het
Zyx	T	A	6: 42,327,291 (GRCm39)	V30E	unknown	Het

Other mutations in Baiap2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Baiap2l1	APN	5	144,222,879 (GRCm39)	splice site	probably null
IGL00789:Baiap2l1	APN	5	144,222,356 (GRCm39)	nonsense	probably null
IGL00922:Baiap2l1	APN	5	144,255,777 (GRCm39)	missense	probably damaging	1.00
IGL01446:Baiap2l1	APN	5	144,212,723 (GRCm39)	missense	probably benign	0.10
IGL01603:Baiap2l1	APN	5	144,217,625 (GRCm39)	intron	probably benign
IGL02748:Baiap2l1	APN	5	144,203,415 (GRCm39)	intron	probably benign
IGL03348:Baiap2l1	APN	5	144,215,341 (GRCm39)	missense	probably benign	0.08
PIT4382001:Baiap2l1	UTSW	5	144,215,480 (GRCm39)	missense	possibly damaging	0.71
R0066:Baiap2l1	UTSW	5	144,221,372 (GRCm39)	missense	probably damaging	1.00
R0066:Baiap2l1	UTSW	5	144,221,372 (GRCm39)	missense	probably damaging	1.00
R0110:Baiap2l1	UTSW	5	144,212,701 (GRCm39)	missense	probably damaging	1.00
R0197:Baiap2l1	UTSW	5	144,202,820 (GRCm39)	missense	probably damaging	0.96
R0469:Baiap2l1	UTSW	5	144,212,701 (GRCm39)	missense	probably damaging	1.00
R0744:Baiap2l1	UTSW	5	144,203,451 (GRCm39)	missense	probably benign	0.21
R0755:Baiap2l1	UTSW	5	144,221,367 (GRCm39)	missense	probably damaging	0.97
R0765:Baiap2l1	UTSW	5	144,214,513 (GRCm39)	missense	probably damaging	0.99
R1051:Baiap2l1	UTSW	5	144,222,943 (GRCm39)	missense	probably damaging	1.00
R1809:Baiap2l1	UTSW	5	144,261,365 (GRCm39)	critical splice donor site	probably null
R3889:Baiap2l1	UTSW	5	144,215,345 (GRCm39)	missense	possibly damaging	0.67
R4451:Baiap2l1	UTSW	5	144,215,362 (GRCm39)	missense	probably damaging	1.00
R5093:Baiap2l1	UTSW	5	144,215,363 (GRCm39)	missense	probably damaging	1.00
R5471:Baiap2l1	UTSW	5	144,218,951 (GRCm39)	missense	probably benign	0.01
R5523:Baiap2l1	UTSW	5	144,212,768 (GRCm39)	missense	probably damaging	1.00
R5524:Baiap2l1	UTSW	5	144,217,759 (GRCm39)	missense	probably benign	0.01
R5586:Baiap2l1	UTSW	5	144,218,949 (GRCm39)	missense	probably damaging	0.99
R5603:Baiap2l1	UTSW	5	144,202,787 (GRCm39)	missense	probably damaging	1.00
R5735:Baiap2l1	UTSW	5	144,223,112 (GRCm39)	missense	probably damaging	1.00
R6353:Baiap2l1	UTSW	5	144,218,898 (GRCm39)	missense	possibly damaging	0.80
R6572:Baiap2l1	UTSW	5	144,223,112 (GRCm39)	missense	probably damaging	1.00
R6619:Baiap2l1	UTSW	5	144,222,916 (GRCm39)	missense	probably benign	0.22
R7218:Baiap2l1	UTSW	5	144,212,687 (GRCm39)	missense	probably benign	0.01
R7352:Baiap2l1	UTSW	5	144,261,436 (GRCm39)	missense	probably benign	0.03
R7662:Baiap2l1	UTSW	5	144,294,700 (GRCm39)	intron	probably benign
R7797:Baiap2l1	UTSW	5	144,255,760 (GRCm39)	missense	probably damaging	1.00
R7981:Baiap2l1	UTSW	5	144,294,700 (GRCm39)	intron	probably benign
R8170:Baiap2l1	UTSW	5	144,214,502 (GRCm39)	nonsense	probably null
R8308:Baiap2l1	UTSW	5	144,214,487 (GRCm39)	missense	probably benign	0.06
R8333:Baiap2l1	UTSW	5	144,217,691 (GRCm39)	missense	possibly damaging	0.89
R8673:Baiap2l1	UTSW	5	144,212,852 (GRCm39)	intron	probably benign
R8976:Baiap2l1	UTSW	5	144,223,117 (GRCm39)	missense	probably benign	0.03
R9187:Baiap2l1	UTSW	5	144,217,764 (GRCm39)	missense	probably benign	0.01
X0022:Baiap2l1	UTSW	5	144,215,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTACATTCATGACTGACG -3'
(R):5'- TGTATTCACCAAAGCACTGAATACC -3'

Sequencing Primer
(F):5'- CTGTACATTCATGACTGACGGAGGAG -3'
(R):5'- CCCAGTGTGTAAAAACCTTTGAG -3'

Posted On

2018-11-28