Mutagenetix > Incidental Mutation

Incidental Mutation 'R7797:Baiap2l1'

600273

Institutional Source

Beutler Lab

Gene Symbol

Baiap2l1

Ensembl Gene

ENSMUSG00000038859

Gene Name

BAI1-associated protein 2-like 1

Synonyms

1300006M19Rik, IRTKS

MMRRC Submission

045853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144201336-144294922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 144255760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 65 (S65A)

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: S65A

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

SMART Domains

Protein: ENSMUSP00000053129
Gene: ENSMUSG00000038859
AA Change: S65A

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

Meta Mutation Damage Score

0.8355

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (68/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,862,509 (GRCm39)		probably null	Het
Adam3	T	G	8: 25,184,660 (GRCm39)	N535T	probably damaging	Het
Adam34l	T	A	8: 44,079,411 (GRCm39)	E271V	probably benign	Het
Adamts4	A	G	1: 171,085,387 (GRCm39)	K679E	probably damaging	Het
Arnt	G	A	3: 95,387,572 (GRCm39)		probably null	Het
Asah2	A	G	19: 31,999,761 (GRCm39)	F321L	probably damaging	Het
Asb15	T	C	6: 24,562,505 (GRCm39)	S156P	probably damaging	Het
Bend7	T	G	2: 4,754,455 (GRCm39)	M186R	probably damaging	Het
Blnk	T	C	19: 40,948,232 (GRCm39)	K146E	possibly damaging	Het
Cd19	A	G	7: 126,012,680 (GRCm39)	W238R	probably damaging	Het
Cd44	T	A	2: 102,679,079 (GRCm39)	N241I	probably benign	Het
Cdh23	T	C	10: 60,220,973 (GRCm39)	E1257G	probably benign	Het
Cfap300	G	T	9: 8,027,130 (GRCm39)	P136Q	possibly damaging	Het
Cntnap5c	T	C	17: 58,666,270 (GRCm39)	V1100A	probably benign	Het
Cul7	T	C	17: 46,969,568 (GRCm39)	V945A	possibly damaging	Het
Dock2	C	T	11: 34,232,652 (GRCm39)	C1116Y	probably damaging	Het
Ehbp1	T	C	11: 22,046,109 (GRCm39)	M547V	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Grhl3	C	G	4: 135,286,416 (GRCm39)	K88N	possibly damaging	Het
Hbb-y	T	A	7: 103,501,088 (GRCm39)	Y146F	probably damaging	Het
Hivep2	T	C	10: 14,005,847 (GRCm39)	V815A	probably benign	Het
Hoxa7	T	A	6: 52,192,870 (GRCm39)	I173F	probably damaging	Het
Igkv1-110	T	G	6: 68,247,977 (GRCm39)	S29A	probably benign	Het
Jade2	A	G	11: 51,708,126 (GRCm39)	S696P	probably benign	Het
Kif1b	T	A	4: 149,321,844 (GRCm39)	Q1025L	probably benign	Het
Kif2c	A	T	4: 117,028,940 (GRCm39)	C241S	probably benign	Het
Kmt2d	G	T	15: 98,762,287 (GRCm39)	H400N	probably benign	Het
Krt35	T	A	11: 99,985,713 (GRCm39)	N174Y	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Magi3	A	G	3: 103,958,618 (GRCm39)	V489A	probably damaging	Het
Mapk7	T	C	11: 61,380,241 (GRCm39)	E739G	possibly damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mdga1	C	T	17: 30,061,814 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,022 (GRCm39)	R607H	probably damaging	Het
Met	T	A	6: 17,533,952 (GRCm39)	N634K	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mmp11	G	T	10: 75,759,314 (GRCm39)	T107K		Het
Mroh2b	A	C	15: 4,978,587 (GRCm39)	N1378H	probably benign	Het
Naa15	G	A	3: 51,356,031 (GRCm39)	C322Y	probably damaging	Het
Naip1	T	A	13: 100,580,986 (GRCm39)	Y87F	probably damaging	Het
Ngrn	A	G	7: 79,914,185 (GRCm39)	D112G	probably benign	Het
Osbpl1a	C	A	18: 13,015,321 (GRCm39)	C369F	probably damaging	Het
Pcnx2	G	C	8: 126,512,087 (GRCm39)	D1406E	possibly damaging	Het
Phf8-ps	T	C	17: 33,286,664 (GRCm39)	D46G	probably damaging	Het
Pold1	G	A	7: 44,191,213 (GRCm39)	P206L	probably benign	Het
Psen1	A	G	12: 83,746,396 (GRCm39)	S20G	probably benign	Het
Ptpn23	C	T	9: 110,222,875 (GRCm39)	D61N	possibly damaging	Het
Rbfox3	A	T	11: 118,387,310 (GRCm39)	L268Q	possibly damaging	Het
Rbm22	A	G	18: 60,694,344 (GRCm39)	T26A	probably damaging	Het
Rpgrip1	G	A	14: 52,371,277 (GRCm39)	R332Q	possibly damaging	Het
Rrm2b	A	T	15: 37,927,505 (GRCm39)	L347*	probably null	Het
Rsf1	A	T	7: 97,310,692 (GRCm39)	D474V		Het
Ryr2	C	T	13: 11,816,066 (GRCm39)	R640Q	probably damaging	Het
Sec16b	A	G	1: 157,389,245 (GRCm39)	E691G	unknown	Het
Septin1	A	T	7: 126,813,937 (GRCm39)	V365E	unknown	Het
Tlk2	A	G	11: 105,101,444 (GRCm39)	H114R	probably benign	Het
Tmem200a	A	G	10: 25,869,864 (GRCm39)	I135T	possibly damaging	Het
Tpst2	T	A	5: 112,455,782 (GRCm39)	V107E	probably damaging	Het
Trim30a	A	T	7: 104,060,407 (GRCm39)	D456E	possibly damaging	Het
Ttll3	T	C	6: 113,371,738 (GRCm39)	V45A	possibly damaging	Het
Ulk2	A	G	11: 61,672,928 (GRCm39)	Y889H	probably benign	Het
Umodl1	A	G	17: 31,178,125 (GRCm39)	S34G	probably benign	Het
Vmn1r67	A	G	7: 10,180,903 (GRCm39)	I56V	probably benign	Het
Vmn2r120	C	T	17: 57,815,874 (GRCm39)	G827E	probably damaging	Het
Zc3h6	T	C	2: 128,857,555 (GRCm39)		probably null	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
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
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'- AGGAGCAGAGTTCCTCAGAG -3'
(R):5'- GTGTCAGCTCTAGAACTTCTGTAGC -3'

Sequencing Primer
(F):5'- AGAGTTCCTCAGAGGCCTG -3'
(R):5'- CTCTAGAACTTCTGTAGCCAGGG -3'

Posted On

2019-11-26