Mutagenetix > Incidental Mutation

Incidental Mutation 'R5093:Baiap2l1'

387921

Institutional Source

Beutler Lab

Gene Symbol

Baiap2l1

Ensembl Gene

ENSMUSG00000038859

Gene Name

BAI1-associated protein 2-like 1

Synonyms

1300006M19Rik, IRTKS

MMRRC Submission

042682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144201336-144294922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144215363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 381 (Y381N)

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

probably damaging
Transcript: ENSMUST00000055190
AA Change: Y381N

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

SMART Domains

Protein: ENSMUSP00000053129
Gene: ENSMUSG00000038859
AA Change: Y381N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129287

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198873

Meta Mutation Damage Score

0.9266

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (90/91)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,610,573 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,032,358 (GRCm39)	L753Q	probably damaging	Het
Acvrl1	A	G	15: 101,032,628 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,740,704 (GRCm39)	N141K	probably damaging	Het
Aftph	C	T	11: 20,659,619 (GRCm39)		probably null	Het
Aifm1	C	T	X: 47,571,637 (GRCm39)	G371S	probably benign	Het
Aldh3b2	A	G	19: 4,029,433 (GRCm39)	M269V	probably benign	Het
Ankrd44	T	C	1: 54,802,877 (GRCm39)	Y207C	probably damaging	Het
Arhgap15	G	T	2: 44,212,767 (GRCm39)	M412I	probably damaging	Het
Auts2	A	C	5: 131,468,296 (GRCm39)	L783R	probably damaging	Het
Baiap3	T	C	17: 25,469,243 (GRCm39)	D180G	probably damaging	Het
Cant1	T	C	11: 118,302,038 (GRCm39)	Y93C	probably damaging	Het
Catsperg2	T	C	7: 29,416,423 (GRCm39)	S330G	probably benign	Het
Ccdc73	A	T	2: 104,848,111 (GRCm39)		probably benign	Het
Cdc5l	A	T	17: 45,703,967 (GRCm39)	F752L	possibly damaging	Het
Celsr2	G	T	3: 108,320,689 (GRCm39)	H708N	possibly damaging	Het
Cep170	T	A	1: 176,596,896 (GRCm39)	K487M	possibly damaging	Het
Cerkl	A	T	2: 79,163,867 (GRCm39)	N66K	probably damaging	Het
Cilk1	G	A	9: 78,047,303 (GRCm39)	V68I	probably benign	Het
Clec11a	C	T	7: 43,954,150 (GRCm39)	A268T	probably damaging	Het
Ctnna2	C	A	6: 77,091,912 (GRCm39)		probably null	Het
Diaph3	C	A	14: 87,222,236 (GRCm39)	R416L	probably damaging	Het
Dnmbp	T	A	19: 43,838,315 (GRCm39)	N1170I	probably damaging	Het
Erbb2	G	T	11: 98,318,279 (GRCm39)	C505F	probably damaging	Het
Ercc6	T	A	14: 32,289,479 (GRCm39)	F904L	probably damaging	Het
Exo5	C	T	4: 120,779,514 (GRCm39)	G117D	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Fbxl5	A	G	5: 43,930,896 (GRCm39)	Y64H	probably damaging	Het
Gabra4	T	A	5: 71,798,207 (GRCm39)	M207L	probably damaging	Het
Galnt15	T	C	14: 31,771,786 (GRCm39)	L277P	probably damaging	Het
Gclm	T	C	3: 122,049,261 (GRCm39)		probably null	Het
Gm5493	T	A	17: 22,966,201 (GRCm39)	C29S	possibly damaging	Het
Grik3	A	G	4: 125,564,382 (GRCm39)	T455A	probably benign	Het
Grm3	A	G	5: 9,639,766 (GRCm39)	V93A	probably benign	Het
Hdgfl2	C	T	17: 56,406,217 (GRCm39)	A535V	possibly damaging	Het
Hfm1	A	T	5: 107,049,597 (GRCm39)	S455T	probably damaging	Het
Hmcn1	T	A	1: 150,613,007 (GRCm39)	D1424V	probably benign	Het
Hsd3b6	C	T	3: 98,715,120 (GRCm39)	V91I	probably benign	Het
Igdcc4	G	A	9: 65,030,039 (GRCm39)	S363N	possibly damaging	Het
Intu	T	C	3: 40,647,347 (GRCm39)	V740A	probably benign	Het
Itga2	C	T	13: 114,992,717 (GRCm39)	V838I	probably benign	Het
Kif9	A	G	9: 110,318,965 (GRCm39)	E143G	probably damaging	Het
Kmt2c	T	A	5: 25,614,205 (GRCm39)	I172F	probably benign	Het
Kmt2d	G	A	15: 98,754,043 (GRCm39)	R21W	probably damaging	Het
Mdh1b	A	T	1: 63,750,620 (GRCm39)	D449E	probably benign	Het
Meis1	T	C	11: 18,831,785 (GRCm39)	I418V	probably benign	Het
Nags	T	A	11: 102,037,395 (GRCm39)	M162K	probably damaging	Het
Nufip1	A	G	14: 76,348,413 (GRCm39)	D14G	probably benign	Het
Or2l13	T	A	16: 19,306,227 (GRCm39)	I213N	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or7g28	T	G	9: 19,272,274 (GRCm39)	I126L	probably damaging	Het
Osmr	A	C	15: 6,850,560 (GRCm39)	V681G	probably damaging	Het
Paxip1	G	T	5: 27,971,282 (GRCm39)	Q356K	unknown	Het
Pcdhac1	T	A	18: 37,223,595 (GRCm39)	F136Y	probably damaging	Het
Pla2g6	A	G	15: 79,171,328 (GRCm39)	V699A	probably benign	Het
Plcb3	A	T	19: 6,943,578 (GRCm39)	V107E	probably damaging	Het
Plch1	T	A	3: 63,681,136 (GRCm39)	I164F	probably damaging	Het
Plpp3	A	T	4: 105,052,077 (GRCm39)	I73F	probably damaging	Het
Plscr5	G	A	9: 92,080,574 (GRCm39)	R20Q	probably benign	Het
Prdm10	G	A	9: 31,252,779 (GRCm39)	R504Q	probably damaging	Het
Prss58	T	C	6: 40,874,751 (GRCm39)	Y30C	probably damaging	Het
Psg19	T	A	7: 18,530,894 (GRCm39)	T87S	probably benign	Het
Ptpn22	T	G	3: 103,789,418 (GRCm39)	M294R	probably benign	Het
Rai1	T	A	11: 60,079,482 (GRCm39)	M1182K	probably benign	Het
Sez6	T	A	11: 77,867,388 (GRCm39)	V795D	possibly damaging	Het
Shcbp1	A	G	8: 4,789,214 (GRCm39)	V535A	possibly damaging	Het
Skint9	A	G	4: 112,246,447 (GRCm39)	Y222H	probably benign	Het
Slc13a3	T	A	2: 165,253,816 (GRCm39)	I446F	probably damaging	Het
Slc2a3	C	T	6: 122,714,196 (GRCm39)	R57H	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Spata31d1b	A	T	13: 59,863,838 (GRCm39)	N329Y	possibly damaging	Het
Strbp	C	T	2: 37,517,499 (GRCm39)	R192K	probably damaging	Het
Tctn3	A	T	19: 40,600,548 (GRCm39)	L14Q	probably damaging	Het
Tenm2	T	A	11: 36,834,989 (GRCm39)	D2V	probably damaging	Het
Tln2	T	G	9: 67,241,596 (GRCm39)	K1003T	probably benign	Het
Tmem63b	T	C	17: 45,971,800 (GRCm39)	E805G	probably damaging	Het
Trhr	A	T	15: 44,060,980 (GRCm39)	N167Y	probably damaging	Het
Trpc2	A	G	7: 101,744,390 (GRCm39)	R721G	probably benign	Het
Ttn	C	A	2: 76,701,267 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,869,288 (GRCm39)	I412T	probably damaging	Het
Zcchc4	T	A	5: 52,953,952 (GRCm39)	S211T	probably benign	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
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
R6981:Baiap2l1	UTSW	5	144,222,389 (GRCm39)	missense	possibly damaging	0.94
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'- GATGATCTATTCTTGCGCCAAG -3'
(R):5'- ATCCCAGTCTACAGCGATCG -3'

Sequencing Primer
(F):5'- AGCAGCATCCTGGAATGC -3'
(R):5'- AGTCTACAGCGATCGGTTTC -3'

Posted On

2016-06-06