Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Ablim3'

562515

Institutional Source

Beutler Lab

Gene Symbol

Ablim3

Ensembl Gene

ENSMUSG00000032735

Gene Name

actin binding LIM protein family, member 3

Synonyms

D930036B08Rik

MMRRC Submission

045342-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61932463-62044895 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 61938135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049378] [ENSMUST00000166783]

AlphaFold

Q69ZX8

Predicted Effect

probably null
Transcript: ENSMUST00000049378

SMART Domains

Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735

Domain	Start	End	E-Value	Type
LIM	22	73	4.19e-8	SMART
LIM	81	133	2.31e-10	SMART
LIM	150	201	2.4e-17	SMART
LIM	209	261	1.12e-8	SMART
Pfam:AbLIM_anchor	273	646	6.5e-154	PFAM
VHP	647	682	1.66e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166783

SMART Domains

Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735

Domain	Start	End	E-Value	Type
LIM	22	73	4.19e-8	SMART
LIM	81	133	2.31e-10	SMART
LIM	150	201	2.4e-17	SMART
LIM	209	261	1.12e-8	SMART
Pfam:AbLIM_anchor	273	646	6.5e-154	PFAM
VHP	647	682	1.66e-19	SMART

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (78/80)

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 actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,244,175 (GRCm39)	T2013S	probably benign	Het
Acvrl1	T	A	15: 101,034,104 (GRCm39)	C206*	probably null	Het
Adamts15	C	A	9: 30,817,454 (GRCm39)	R541S	probably damaging	Het
Add3	A	G	19: 53,221,577 (GRCm39)	I230V	probably benign	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Asxl3	A	T	18: 22,544,556 (GRCm39)		probably null	Het
Asxl3	A	G	18: 22,650,597 (GRCm39)	E862G	probably damaging	Het
Atp2b2	G	A	6: 113,742,693 (GRCm39)	T798M	possibly damaging	Het
Car12	T	C	9: 66,659,599 (GRCm39)	I208T	probably damaging	Het
Cgn	T	A	3: 94,680,502 (GRCm39)	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,539,927 (GRCm39)	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,949,178 (GRCm39)	V496A	probably benign	Het
Cplx4	C	A	18: 66,090,123 (GRCm39)	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,114,963 (GRCm39)	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,466,894 (GRCm39)	L193P	probably damaging	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Depdc5	C	A	5: 33,059,209 (GRCm39)	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,362,840 (GRCm39)	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,890,892 (GRCm39)	E3218V	probably benign	Het
Dnah9	T	C	11: 65,856,473 (GRCm39)	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,447,022 (GRCm39)	G557*	probably null	Het
Eps8l2	A	G	7: 140,940,305 (GRCm39)	N512D	probably damaging	Het
Fam20a	T	C	11: 109,612,201 (GRCm39)	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,090,353 (GRCm39)	S7P	unknown	Het
Fli1	T	C	9: 32,335,484 (GRCm39)	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Haus8	G	A	8: 71,705,781 (GRCm39)	T302I	probably benign	Het
Hmcn1	T	C	1: 150,514,627 (GRCm39)	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,447,842 (GRCm39)	Q161*	probably null	Het
Hsf4	C	T	8: 105,998,779 (GRCm39)	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,251,636 (GRCm39)	W164R		Het
Isl1	A	G	13: 116,439,826 (GRCm39)	V174A	probably benign	Het
Itih4	A	T	14: 30,618,571 (GRCm39)	I661F	probably benign	Het
Klhl14	A	T	18: 21,785,193 (GRCm39)	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,215,180 (GRCm39)	I177F	unknown	Het
Lingo3	T	A	10: 80,670,938 (GRCm39)	T331S	possibly damaging	Het
Lrrc36	T	C	8: 106,187,689 (GRCm39)	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,342,279 (GRCm39)	S497A	probably benign	Het
Mbip	A	G	12: 56,384,547 (GRCm39)		probably null	Het
Nelfa	C	T	5: 34,056,169 (GRCm39)	G498D	probably damaging	Het
Nherf2	C	T	17: 24,869,078 (GRCm39)	R16H	probably damaging	Het
Nlrc5	T	A	8: 95,248,433 (GRCm39)		probably null	Het
Or2ag2b	A	T	7: 106,417,650 (GRCm39)	Y120F	probably damaging	Het
Or4f59	A	T	2: 111,872,711 (GRCm39)	V222D	probably damaging	Het
Or56a3	T	C	7: 104,734,994 (GRCm39)	S24P	possibly damaging	Het
Or7e171-ps1	T	A	9: 19,852,855 (GRCm39)	T294S	unknown	Het
Pde2a	A	G	7: 101,155,160 (GRCm39)	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,777,891 (GRCm39)	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,700,389 (GRCm39)	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,633,492 (GRCm39)	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,994,986 (GRCm39)	Y572N	probably benign	Het
Prkcq	T	A	2: 11,295,262 (GRCm39)	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062 (GRCm39)	D226V	probably damaging	Het
Rab1b	A	G	19: 5,155,229 (GRCm39)	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,650,976 (GRCm39)	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Samd15	T	A	12: 87,247,818 (GRCm39)	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,597,945 (GRCm39)	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,159,097 (GRCm39)	H141Q	probably benign	Het
Snx21	T	C	2: 164,628,121 (GRCm39)	S46P	probably benign	Het
Strip2	A	G	6: 29,944,486 (GRCm39)	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,708,125 (GRCm39)	P392L	probably damaging	Het
Suclg1	G	A	6: 73,240,954 (GRCm39)	R161H	probably benign	Het
Tas1r3	T	C	4: 155,947,283 (GRCm39)	Y134C	probably damaging	Het
Tgif1	T	A	17: 71,153,168 (GRCm39)	Q114L	probably damaging	Het
Tll2	A	G	19: 41,074,673 (GRCm39)	F964L	probably benign	Het
Tmem181a	T	C	17: 6,348,195 (GRCm39)	S247P	possibly damaging	Het
Trav23	A	T	14: 54,215,025 (GRCm39)	R79S	probably damaging	Het
Trf	C	A	9: 103,102,347 (GRCm39)	C177F	probably damaging	Het
Triml1	T	C	8: 43,589,408 (GRCm39)	Y260C	probably benign	Het
Tulp4	T	C	17: 6,286,510 (GRCm39)	F1513L	probably benign	Het
Umodl1	G	A	17: 31,205,090 (GRCm39)	V562I	probably damaging	Het
Ush2a	A	G	1: 188,491,960 (GRCm39)	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,580,888 (GRCm39)	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,100,637 (GRCm39)	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 9,787,010 (GRCm39)	N32K	probably benign	Het
Vps13d	A	G	4: 144,784,032 (GRCm39)	V3914A		Het
Vwa5b2	A	G	16: 20,422,878 (GRCm39)	T984A	probably benign	Het
Zc3h3	C	T	15: 75,712,231 (GRCm39)	V77M	probably damaging	Het
Zfp397	A	T	18: 24,093,415 (GRCm39)	H300L	probably damaging	Het
Zfp950	G	A	19: 61,107,650 (GRCm39)	R478C	probably benign	Het

Other mutations in Ablim3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Ablim3	APN	18	61,982,477 (GRCm39)	missense	possibly damaging	0.83
IGL00954:Ablim3	APN	18	61,972,756 (GRCm39)	splice site	probably benign
IGL01012:Ablim3	APN	18	61,972,772 (GRCm39)	missense	possibly damaging	0.91
IGL01402:Ablim3	APN	18	62,004,754 (GRCm39)	missense	probably damaging	0.99
IGL01404:Ablim3	APN	18	62,004,754 (GRCm39)	missense	probably damaging	0.99
IGL01609:Ablim3	APN	18	61,955,092 (GRCm39)	missense	probably benign	0.05
IGL01710:Ablim3	APN	18	62,004,645 (GRCm39)	missense	probably damaging	1.00
IGL01775:Ablim3	APN	18	61,949,989 (GRCm39)	splice site	probably benign
IGL02967:Ablim3	APN	18	61,959,574 (GRCm39)	nonsense	probably null
IGL03409:Ablim3	APN	18	61,978,922 (GRCm39)	missense	probably damaging	1.00
R0143:Ablim3	UTSW	18	61,988,288 (GRCm39)	missense	probably benign	0.20
R0601:Ablim3	UTSW	18	61,982,441 (GRCm39)	missense	probably benign	0.19
R1067:Ablim3	UTSW	18	61,957,018 (GRCm39)	splice site	probably benign
R1642:Ablim3	UTSW	18	61,947,382 (GRCm39)	missense	probably benign	0.26
R1851:Ablim3	UTSW	18	61,982,466 (GRCm39)	missense	probably benign	0.33
R1852:Ablim3	UTSW	18	61,982,466 (GRCm39)	missense	probably benign	0.33
R2072:Ablim3	UTSW	18	61,990,159 (GRCm39)	missense	possibly damaging	0.74
R2763:Ablim3	UTSW	18	61,946,615 (GRCm39)	nonsense	probably null
R4865:Ablim3	UTSW	18	61,938,157 (GRCm39)	missense	probably damaging	1.00
R5190:Ablim3	UTSW	18	61,952,982 (GRCm39)	missense	probably benign	0.00
R5353:Ablim3	UTSW	18	61,934,470 (GRCm39)	missense	probably damaging	1.00
R5442:Ablim3	UTSW	18	61,990,296 (GRCm39)	splice site	probably null
R5835:Ablim3	UTSW	18	61,956,993 (GRCm39)	missense	probably damaging	1.00
R6547:Ablim3	UTSW	18	61,957,000 (GRCm39)	missense	probably benign	0.01
R7386:Ablim3	UTSW	18	61,955,065 (GRCm39)	missense	probably damaging	1.00
R7404:Ablim3	UTSW	18	61,955,099 (GRCm39)	missense	probably damaging	0.99
R7529:Ablim3	UTSW	18	61,955,039 (GRCm39)	missense	probably benign
R8979:Ablim3	UTSW	18	61,982,397 (GRCm39)	missense	probably benign
R9037:Ablim3	UTSW	18	61,952,066 (GRCm39)	missense	probably benign	0.10
R9095:Ablim3	UTSW	18	61,953,463 (GRCm39)	missense	probably benign	0.01
R9250:Ablim3	UTSW	18	61,944,501 (GRCm39)	missense	probably damaging	1.00
R9320:Ablim3	UTSW	18	61,972,805 (GRCm39)	missense	probably damaging	1.00
R9454:Ablim3	UTSW	18	61,952,067 (GRCm39)	missense	possibly damaging	0.79
R9457:Ablim3	UTSW	18	61,978,920 (GRCm39)	missense	probably benign	0.06
R9591:Ablim3	UTSW	18	61,954,984 (GRCm39)	missense	probably benign	0.15
R9761:Ablim3	UTSW	18	61,952,885 (GRCm39)	missense	possibly damaging	0.82
X0028:Ablim3	UTSW	18	61,938,183 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACAGAAGGTCTTCCTAAGGATTG -3'
(R):5'- TTAGTGGATAGGAGGAGCCC -3'

Sequencing Primer
(F):5'- ATGTTCAATGTGTGCCCCGAAAC -3'
(R):5'- AGCCCAGGCACGAACTG -3'

Posted On

2019-06-26