Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02967:Ablim3'

365655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ablim3

Ensembl Gene

ENSMUSG00000032735

Gene Name

actin binding LIM protein family, member 3

Synonyms

D930036B08Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02967

Quality Score

Status

Chromosome

Chromosomal Location

61932463-62044895 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 61959574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 272 (K272*)

Ref Sequence

ENSEMBL: ENSMUSP00000125836 (fasta)

Gene Model

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

AlphaFold

Q69ZX8

Predicted Effect

probably null
Transcript: ENSMUST00000049378
AA Change: K272*

SMART Domains

Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: K272*

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
AA Change: K272*

SMART Domains

Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: K272*

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

Coding Region Coverage

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,291 (GRCm39)	T3455A	probably damaging	Het
Abca8a	G	A	11: 109,941,762 (GRCm39)	P1169L	probably damaging	Het
Abtb3	A	G	10: 85,469,646 (GRCm39)	T856A	probably benign	Het
Acin1	A	G	14: 54,880,210 (GRCm39)	V574A	possibly damaging	Het
Acot4	A	T	12: 84,090,235 (GRCm39)	I311L	probably benign	Het
Akap9	C	T	5: 4,026,164 (GRCm39)	A1273V	probably benign	Het
Ap1g2	T	A	14: 55,342,479 (GRCm39)		probably benign	Het
Apob	A	T	12: 8,065,366 (GRCm39)	K4112*	probably null	Het
Aspdh	A	G	7: 44,114,963 (GRCm39)		probably null	Het
Atf7ip	T	C	6: 136,583,725 (GRCm39)	I1252T	probably damaging	Het
Avpr1a	A	G	10: 122,285,367 (GRCm39)	T220A	possibly damaging	Het
Bdp1	A	G	13: 100,178,778 (GRCm39)	F1856S	possibly damaging	Het
Cit	A	T	5: 116,083,896 (GRCm39)	N743I	probably benign	Het
Clvs2	T	C	10: 33,471,784 (GRCm39)	K174E	probably damaging	Het
Cyp4f40	A	T	17: 32,893,222 (GRCm39)	Q351L	probably damaging	Het
Dmbt1	G	T	7: 130,672,919 (GRCm39)	V550L	possibly damaging	Het
Edem1	T	G	6: 108,813,738 (GRCm39)	S178A	probably damaging	Het
Fam222b	C	T	11: 78,044,934 (GRCm39)	A165V	probably benign	Het
Fer	T	C	17: 64,203,262 (GRCm39)	V64A	possibly damaging	Het
Fggy	T	G	4: 95,814,986 (GRCm39)	F535C	possibly damaging	Het
Fkbp15	A	T	4: 62,222,627 (GRCm39)	S1091T	probably damaging	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Fut7	G	T	2: 25,315,155 (GRCm39)	V91L	probably damaging	Het
Gemin4	A	T	11: 76,103,067 (GRCm39)	C565S	probably damaging	Het
Gzmm	C	T	10: 79,530,897 (GRCm39)	T233I	possibly damaging	Het
Hps5	A	T	7: 46,418,804 (GRCm39)	L789Q	possibly damaging	Het
Krt32	G	A	11: 99,974,876 (GRCm39)	S357F	possibly damaging	Het
Lrig2	C	T	3: 104,401,512 (GRCm39)		probably benign	Het
Lrp8	C	A	4: 107,718,431 (GRCm39)	Q678K	probably benign	Het
Mmp27	C	A	9: 7,571,591 (GRCm39)	Q45K	probably benign	Het
Myh1	A	G	11: 67,099,896 (GRCm39)	D602G	possibly damaging	Het
Ncoa1	G	T	12: 4,345,294 (GRCm39)	H684Q	probably damaging	Het
Nol9	T	C	4: 152,125,559 (GRCm39)	V170A	possibly damaging	Het
Notch2	A	G	3: 98,053,460 (GRCm39)	D2041G	probably damaging	Het
Nrg3	G	T	14: 38,390,256 (GRCm39)		probably benign	Het
Nuak1	T	A	10: 84,276,085 (GRCm39)	H46L	probably damaging	Het
Pdzd2	G	T	15: 12,374,427 (GRCm39)	Q1903K	probably benign	Het
Pik3c2g	T	C	6: 139,913,554 (GRCm39)	V616A	probably damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prdm11	A	T	2: 92,843,234 (GRCm39)	F75Y	probably damaging	Het
Prelid1	G	A	13: 55,472,219 (GRCm39)	V132I	probably benign	Het
Prom1	A	G	5: 44,201,740 (GRCm39)	S227P	probably damaging	Het
Psmb5	G	A	14: 54,854,083 (GRCm39)	R132C	probably benign	Het
Pus10	A	G	11: 23,668,602 (GRCm39)	N360D	probably damaging	Het
Pygm	G	A	19: 6,443,868 (GRCm39)	V610M	probably damaging	Het
Setd1a	A	G	7: 127,384,349 (GRCm39)		probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slc25a4	A	G	8: 46,662,187 (GRCm39)	L157P	probably damaging	Het
Sost	T	G	11: 101,855,084 (GRCm39)	E75A	possibly damaging	Het
Tdrd9	A	G	12: 111,958,922 (GRCm39)	S119G	possibly damaging	Het
Tepsin	A	G	11: 119,984,954 (GRCm39)	I238T	probably benign	Het
Tfr2	T	A	5: 137,581,081 (GRCm39)	L507*	probably null	Het
Tmem106a	T	C	11: 101,477,121 (GRCm39)	I110T	possibly damaging	Het
Tmem38a	A	T	8: 73,339,926 (GRCm39)	D298V	possibly damaging	Het
Tmprss12	A	T	15: 100,183,262 (GRCm39)	R201S	probably benign	Het
Ugt2b36	T	C	5: 87,238,759 (GRCm39)	T271A	possibly damaging	Het
Virma	T	G	4: 11,514,096 (GRCm39)	V650G	probably benign	Het
Vmn1r220	A	T	13: 23,368,162 (GRCm39)	I178N	probably damaging	Het
Zfp609	A	G	9: 65,604,901 (GRCm39)	S1276P	possibly damaging	Het
Zfp809	A	G	9: 22,146,398 (GRCm39)	Y29C	probably damaging	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
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
R7231:Ablim3	UTSW	18	61,938,135 (GRCm39)	critical splice donor site	probably null
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

Posted On

2015-12-18