Mutagenetix > Incidental Mutation

Incidental Mutation 'R5524:Baiap2l1'

431741

Institutional Source

Beutler Lab

Gene Symbol

Baiap2l1

Ensembl Gene

ENSMUSG00000038859

Gene Name

BAI1-associated protein 2-like 1

Synonyms

1300006M19Rik, IRTKS

MMRRC Submission

043082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144201336-144294922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144217759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 276 (T276A)

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 benign
Transcript: ENSMUST00000055190
AA Change: T276A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000053129
Gene: ENSMUSG00000038859
AA Change: T276A

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

0.0590

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (76/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	A	7: 82,503,150 (GRCm39)		noncoding transcript	Het
6030469F06Rik	A	G	12: 31,234,862 (GRCm39)		noncoding transcript	Het
A830031A19Rik	T	A	11: 24,008,776 (GRCm39)	I13F	unknown	Het
Acsbg2	A	C	17: 57,157,197 (GRCm39)	L309R	probably damaging	Het
Adam32	A	T	8: 25,412,328 (GRCm39)	M76K	probably damaging	Het
Adamts14	C	A	10: 61,066,222 (GRCm39)	R297L	probably damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Asb14	A	G	14: 26,622,408 (GRCm39)	K80E	possibly damaging	Het
Cacna1d	G	A	14: 29,764,086 (GRCm39)	P2127S	probably benign	Het
Ces2g	A	G	8: 105,693,527 (GRCm39)	T403A	probably benign	Het
Cgn	A	C	3: 94,687,299 (GRCm39)	M1R	probably null	Het
Chd5	T	G	4: 152,461,087 (GRCm39)	S1226A	probably benign	Het
Col18a1	A	G	10: 76,894,558 (GRCm39)	V1497A	probably damaging	Het
Cpd	A	T	11: 76,688,727 (GRCm39)	Y848*	probably null	Het
Cyp2a12	T	C	7: 26,730,656 (GRCm39)	V207A	probably benign	Het
Cyth1	G	A	11: 118,073,593 (GRCm39)	R247W	probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eml1	A	T	12: 108,487,635 (GRCm39)	I518L	probably damaging	Het
Eri1	A	G	8: 35,945,763 (GRCm39)	V174A	probably benign	Het
Fgd3	T	A	13: 49,431,053 (GRCm39)	I435F	probably damaging	Het
Foxd1	T	G	13: 98,492,412 (GRCm39)	S429A	unknown	Het
Ftcd	T	A	10: 76,425,165 (GRCm39)		probably benign	Het
Gm5478	G	T	15: 101,553,102 (GRCm39)	N323K	probably benign	Het
Gnpda1	G	T	18: 38,468,161 (GRCm39)	P45Q	probably damaging	Het
Kif20a	G	T	18: 34,763,678 (GRCm39)		probably null	Het
Klrb1	T	C	6: 128,689,296 (GRCm39)		probably null	Het
Lcorl	C	A	5: 45,932,864 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,932,865 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,000,900 (GRCm39)	K2108M	probably damaging	Het
Lyst	C	T	13: 13,921,364 (GRCm39)	P3437S	probably benign	Het
Macrod2	A	T	2: 142,159,863 (GRCm39)	M349L	possibly damaging	Het
Marchf7	T	C	2: 60,075,647 (GRCm39)		probably benign	Het
Mcm9	A	T	10: 53,424,786 (GRCm39)	C601*	probably null	Het
Muc19	G	T	15: 91,778,587 (GRCm39)		noncoding transcript	Het
Mycbp2	T	C	14: 103,532,673 (GRCm39)	D427G	probably damaging	Het
Nap1l5	C	A	6: 58,883,763 (GRCm39)	V64L	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Npas3	T	C	12: 54,115,721 (GRCm39)	V863A	possibly damaging	Het
Nr2c2	T	A	6: 92,116,746 (GRCm39)		probably null	Het
Oosp3	T	C	19: 11,682,794 (GRCm39)	F56S	possibly damaging	Het
Or1a1b	A	T	11: 74,097,409 (GRCm39)	L211Q	probably damaging	Het
Or5k17	C	T	16: 58,746,172 (GRCm39)	C254Y	probably benign	Het
Or8g20	C	T	9: 39,396,283 (GRCm39)	V89M	probably damaging	Het
Plgrkt	G	A	19: 29,327,850 (GRCm39)	P78S	probably damaging	Het
Prss36	G	A	7: 127,533,637 (GRCm39)	Q56*	probably null	Het
Ptprz1	A	G	6: 22,986,317 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,107,699 (GRCm39)	F265I	probably damaging	Het
R3hcc1l	G	T	19: 42,552,307 (GRCm39)	E435*	probably null	Het
Shbg	T	C	11: 69,507,588 (GRCm39)	D163G	probably benign	Het
Skint7	T	A	4: 111,837,546 (GRCm39)	L108H	probably damaging	Het
Smtnl1	T	A	2: 84,649,238 (GRCm39)	E5D	probably benign	Het
Spock1	C	T	13: 57,704,608 (GRCm39)	G120D	probably damaging	Het
Stk11ip	G	T	1: 75,508,971 (GRCm39)	C700F	probably damaging	Het
Sult4a1	C	T	15: 83,974,159 (GRCm39)		probably null	Het
Syngap1	A	G	17: 27,176,126 (GRCm39)	H138R	probably damaging	Het
Tdrd7	A	G	4: 46,034,301 (GRCm39)	K1016E	probably benign	Het
Tmem167b	T	C	3: 108,467,569 (GRCm39)	K26E	possibly damaging	Het
Tnfaip3	A	G	10: 18,883,943 (GRCm39)	S146P	probably damaging	Het
Ttn	C	T	2: 76,607,060 (GRCm39)	V16242I	possibly damaging	Het
Vmn2r-ps3	T	A	3: 63,960,870 (GRCm39)		noncoding transcript	Het
Vps13c	T	C	9: 67,864,838 (GRCm39)	F3049S	probably damaging	Het
Vstm2l	T	C	2: 157,777,355 (GRCm39)	W78R	probably damaging	Het
Wbp1l	C	A	19: 46,642,695 (GRCm39)	A216D	possibly damaging	Het
Zer1	C	G	2: 29,994,866 (GRCm39)	V510L	probably damaging	Het
Zfp28	A	T	7: 6,397,850 (GRCm39)		probably null	Het
Zfp352	C	A	4: 90,113,341 (GRCm39)	P494T	possibly damaging	Het
Zfp353-ps	A	G	8: 42,535,600 (GRCm39)		noncoding transcript	Het
Zfp563	A	T	17: 33,321,515 (GRCm39)		probably null	Het
Zim1	T	C	7: 6,680,320 (GRCm39)	N448D	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
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
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'- GTTCATATCACAAACACGCACAT -3'
(R):5'- GCTTAAGAAGGAGCCCACC -3'

Sequencing Primer
(F):5'- TATCACAAACACGCACATAAAAATG -3'
(R):5'- CTTTAATCCCAGCACTAGGGAGG -3'

Posted On

2016-10-05