Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Ablim1'

165967

Institutional Source

Beutler Lab

Gene Symbol

Ablim1

Ensembl Gene

ENSMUSG00000025085

Gene Name

actin-binding LIM protein 1

Synonyms

2210411C18Rik, abLIM-L, abLIM-M, 4833406P10Rik, abLIM-S, 9330196J19Rik, 2610209L21Rik, Limab1

MMRRC Submission

039526-MU

Accession Numbers

Genbank: NM_178688; MGI: 1194500

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57032733-57314919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57068236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 342 (D342G)

Ref Sequence

ENSEMBL: ENSMUSP00000107183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079360] [ENSMUST00000099294] [ENSMUST00000104902] [ENSMUST00000111526] [ENSMUST00000111528] [ENSMUST00000111529] [ENSMUST00000111544] [ENSMUST00000111546] [ENSMUST00000111550] [ENSMUST00000111555] [ENSMUST00000111558] [ENSMUST00000111559]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000079360
AA Change: D421G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: D421G

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
LIM	98	149	1.14e-9	SMART
LIM	157	209	1.37e-12	SMART
LIM	225	276	1.12e-17	SMART
LIM	284	336	5.87e-12	SMART
Pfam:AbLIM_anchor	393	825	1.9e-139	PFAM
VHP	826	861	1.22e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000099294
AA Change: D301G

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

SMART Domains

Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: D301G

Domain	Start	End	E-Value	Type
LIM	22	73	1.14e-9	SMART
LIM	81	133	1.37e-12	SMART
LIM	149	200	1.12e-17	SMART
LIM	208	260	5.87e-12	SMART
low complexity region	284	293	N/A	INTRINSIC
coiled coil region	467	491	N/A	INTRINSIC
low complexity region	516	531	N/A	INTRINSIC
VHP	619	654	1.22e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000104902
AA Change: D105G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
AA Change: D105G

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	3e-7	BLAST
PDB:1WIG\|A	1	28	1e-8	PDB
low complexity region	88	97	N/A	INTRINSIC
low complexity region	219	235	N/A	INTRINSIC
coiled coil region	358	382	N/A	INTRINSIC
low complexity region	407	422	N/A	INTRINSIC
VHP	510	545	1.22e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111526
AA Change: D35G

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

SMART Domains

Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
AA Change: D35G

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	2e-7	BLAST
PDB:1WIG\|A	1	28	6e-9	PDB
coiled coil region	213	237	N/A	INTRINSIC
low complexity region	262	277	N/A	INTRINSIC
VHP	365	400	1.22e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111528
AA Change: D89G

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

SMART Domains

Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
AA Change: D89G

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	3e-7	BLAST
PDB:1WIG\|A	1	28	8e-9	PDB
low complexity region	72	81	N/A	INTRINSIC
coiled coil region	267	291	N/A	INTRINSIC
low complexity region	316	331	N/A	INTRINSIC
VHP	419	454	1.22e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111529
AA Change: D61G

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

SMART Domains

Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
AA Change: D61G

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	3e-7	BLAST
PDB:1WIG\|A	1	28	8e-9	PDB
low complexity region	44	53	N/A	INTRINSIC
coiled coil region	239	263	N/A	INTRINSIC
low complexity region	288	303	N/A	INTRINSIC
VHP	391	426	1.22e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111544
AA Change: D301G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: D301G

Domain	Start	End	E-Value	Type
LIM	22	73	1.14e-9	SMART
LIM	81	133	1.37e-12	SMART
LIM	149	200	1.12e-17	SMART
LIM	208	260	5.87e-12	SMART
low complexity region	284	293	N/A	INTRINSIC
low complexity region	422	427	N/A	INTRINSIC
coiled coil region	481	505	N/A	INTRINSIC
low complexity region	530	545	N/A	INTRINSIC
VHP	633	668	1.22e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111546
AA Change: D301G

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: D301G

Domain	Start	End	E-Value	Type
LIM	22	73	5.7e-12	SMART
LIM	81	133	6.6e-15	SMART
LIM	149	200	5.4e-20	SMART
LIM	208	260	2.8e-14	SMART
low complexity region	284	293	N/A	INTRINSIC
coiled coil region	514	538	N/A	INTRINSIC
low complexity region	563	578	N/A	INTRINSIC
VHP	666	700	1.2e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111550
AA Change: D329G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: D329G

Domain	Start	End	E-Value	Type
LIM	22	73	1.14e-9	SMART
LIM	81	133	1.37e-12	SMART
LIM	149	200	1.12e-17	SMART
LIM	208	260	5.87e-12	SMART
low complexity region	312	321	N/A	INTRINSIC
coiled coil region	495	519	N/A	INTRINSIC
low complexity region	544	559	N/A	INTRINSIC
VHP	647	682	1.22e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111555
AA Change: D377G

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

SMART Domains

Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: D377G

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
LIM	98	149	1.14e-9	SMART
LIM	157	209	1.37e-12	SMART
LIM	225	276	1.12e-17	SMART
LIM	284	336	5.87e-12	SMART
low complexity region	360	369	N/A	INTRINSIC
coiled coil region	590	614	N/A	INTRINSIC
low complexity region	639	654	N/A	INTRINSIC
VHP	742	777	1.22e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111558
AA Change: D342G

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

SMART Domains

Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: D342G

Domain	Start	End	E-Value	Type
LIM	35	86	1.14e-9	SMART
LIM	94	146	1.37e-12	SMART
LIM	162	213	1.12e-17	SMART
LIM	221	273	5.87e-12	SMART
low complexity region	325	334	N/A	INTRINSIC
low complexity region	498	503	N/A	INTRINSIC
coiled coil region	557	581	N/A	INTRINSIC
low complexity region	606	621	N/A	INTRINSIC
VHP	709	744	1.22e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111559
AA Change: D314G

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

SMART Domains

Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: D314G

Domain	Start	End	E-Value	Type
LIM	35	86	1.14e-9	SMART
LIM	94	146	1.37e-12	SMART
LIM	162	213	1.12e-17	SMART
LIM	221	273	5.87e-12	SMART
low complexity region	297	306	N/A	INTRINSIC
coiled coil region	527	551	N/A	INTRINSIC
low complexity region	576	591	N/A	INTRINSIC
VHP	679	714	1.22e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133782

Meta Mutation Damage Score

0.1767

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4)

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	T	C	9: 26,979,041	T293A	probably benign	Het
Adamts13	C	A	2: 26,981,753	Y310*	probably null	Het
Adcy6	T	A	15: 98,592,743	Y1102F	probably damaging	Het
Ahctf1	G	A	1: 179,776,108	T791M	probably benign	Het
Ahctf1	A	G	1: 179,799,279	V18A	probably damaging	Het
Ampd3	T	G	7: 110,804,935	S564R	probably damaging	Het
Anapc1	A	T	2: 128,617,697	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,701,609	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,539,264	Y49H	probably damaging	Het
Ccdc24	G	T	4: 117,869,904		probably benign	Het
Clcn6	A	C	4: 148,024,156	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,982,908		probably benign	Het
Crip2	T	A	12: 113,143,500	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,314,763	N455T	probably benign	Het
Dhcr7	A	G	7: 143,841,368	D113G	probably damaging	Het
Dhcr7	T	C	7: 143,847,068	Y323H	probably damaging	Het
Dnah7a	A	C	1: 53,496,014	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,397,244	T55A	probably benign	Het
Drosha	G	A	15: 12,912,520	E1075K	probably benign	Het
Duox2	A	G	2: 122,287,121	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,694,058	A327V	possibly damaging	Het
Espl1	C	T	15: 102,320,443	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,858,207	K22R	possibly damaging	Het
Fzd6	T	C	15: 39,030,963	F175L	probably damaging	Het
Gm4737	T	A	16: 46,154,819	E65V	probably damaging	Het
Gm5155	A	G	7: 17,905,091		noncoding transcript	Het
Gm6526	A	G	14: 43,748,846	I76M	probably damaging	Het
Gm6583	T	C	5: 112,354,549	T430A	probably benign	Het
Gm9881	A	T	16: 91,170,735	F34I	unknown	Het
Gm9892	T	C	8: 52,196,614	D148G	possibly damaging	Het
Grb10	C	T	11: 11,934,249	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hdac4	T	C	1: 92,029,968	H108R	possibly damaging	Het
Hist2h2bb	G	T	3: 96,270,072	L107F	probably damaging	Het
Hmcn1	G	A	1: 150,772,552	T661I	probably benign	Het
Icam1	T	A	9: 21,027,876	I515N	probably damaging	Het
Ifi208	A	G	1: 173,695,654	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,318,767	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,734,011	M1102V	probably benign	Het
Itgb4	A	T	11: 115,984,047	N410I	probably benign	Het
Jup	T	C	11: 100,379,601	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,974,496	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,712,046		probably null	Het
Lrig1	T	A	6: 94,607,313	T917S	probably benign	Het
Mast2	A	G	4: 116,311,955	S814P	probably damaging	Het
Mast4	T	C	13: 102,772,519	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,019,533	M176T	probably benign	Het
Mettl22	A	G	16: 8,473,961	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,328,688	T131A	probably benign	Het
Nde1	T	G	16: 14,185,864	F71V	probably benign	Het
Nxn	C	T	11: 76,263,187	G274D	possibly damaging	Het
Olfr1230	A	T	2: 89,296,906	Y121*	probably null	Het
Olfr183	A	T	16: 58,999,912	T76S	probably benign	Het
Olfr414	T	A	1: 174,430,643	W72R	probably damaging	Het
Olfr427	G	T	1: 174,099,749	C97F	probably damaging	Het
Osbp2	T	C	11: 3,717,175		probably null	Het
Otud7a	C	A	7: 63,754,629		probably benign	Het
Phf3	G	A	1: 30,805,940	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,522,983	D1635E	probably benign	Het
Plpp1	A	G	13: 112,859,664	H171R	probably damaging	Het
Pofut1	A	G	2: 153,261,246	M172V	probably damaging	Het
Prmt5	A	G	14: 54,508,915	F580L	probably damaging	Het
Rab11fip3	A	T	17: 25,991,322	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,818,665	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584	N399S	probably benign	Het
Sbk1	A	G	7: 126,292,252	E286G	possibly damaging	Het
Scin	T	A	12: 40,077,502	T430S	probably benign	Het
Sgsm1	T	A	5: 113,263,257	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,341,111	R37H	probably damaging	Het
Smchd1	A	T	17: 71,361,837		probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Soga1	A	T	2: 157,020,448	Y1520*	probably null	Het
Stk32c	C	T	7: 139,125,179	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,564,739	M82T	probably benign	Het
Tat	T	C	8: 109,996,918	L346P	probably damaging	Het
Tenm3	C	A	8: 48,310,625	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,622	S1203N	probably benign	Het
Tmem191c	G	A	16: 17,277,962		probably null	Het
Tmem268	A	G	4: 63,580,338	T239A	probably damaging	Het
Tmem82	A	C	4: 141,616,278	L227R	possibly damaging	Het
Ttn	A	T	2: 76,727,032	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,721,574		probably benign	Het
Ubqln4	A	G	3: 88,565,845	I536V	probably benign	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,694,581	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,538,158	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,961,410	C25S	probably damaging	Het
Wdr38	A	G	2: 39,000,979	T261A	probably benign	Het
Zfp653	T	C	9: 22,058,220	E250G	possibly damaging	Het

Other mutations in Ablim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Ablim1	APN	19	57068186	missense	probably damaging	1.00
IGL00466:Ablim1	APN	19	57068186	missense	probably damaging	1.00
IGL00478:Ablim1	APN	19	57068186	missense	probably damaging	1.00
IGL00847:Ablim1	APN	19	57152290	missense	possibly damaging	0.59
IGL01063:Ablim1	APN	19	57061328	missense	probably damaging	1.00
IGL01304:Ablim1	APN	19	57215721	missense	probably benign
IGL01385:Ablim1	APN	19	57068914	missense	probably damaging	1.00
IGL01707:Ablim1	APN	19	57039447	missense	probably damaging	1.00
IGL02386:Ablim1	APN	19	57134654	missense	probably damaging	1.00
IGL02427:Ablim1	APN	19	57079880	splice site	probably benign
IGL02498:Ablim1	APN	19	57152319	nonsense	probably null
A9681:Ablim1	UTSW	19	57173323	critical splice donor site	probably null
R0089:Ablim1	UTSW	19	57043031	missense	probably damaging	1.00
R0226:Ablim1	UTSW	19	57043870	missense	probably damaging	1.00
R1419:Ablim1	UTSW	19	57134633	missense	probably damaging	1.00
R1587:Ablim1	UTSW	19	57083547	start codon destroyed	probably null	0.99
R1588:Ablim1	UTSW	19	57083547	start codon destroyed	probably null	0.99
R1935:Ablim1	UTSW	19	57215965	start gained	probably null
R1936:Ablim1	UTSW	19	57215965	start gained	probably null
R2021:Ablim1	UTSW	19	57047018	missense	probably damaging	0.98
R2110:Ablim1	UTSW	19	57043813	missense	possibly damaging	0.83
R2270:Ablim1	UTSW	19	57077431	missense	possibly damaging	0.58
R2509:Ablim1	UTSW	19	57152359	missense	probably damaging	1.00
R3621:Ablim1	UTSW	19	57152303	missense	probably damaging	0.97
R3732:Ablim1	UTSW	19	57049460	critical splice donor site	probably null
R3732:Ablim1	UTSW	19	57049460	critical splice donor site	probably null
R3733:Ablim1	UTSW	19	57049460	critical splice donor site	probably null
R3734:Ablim1	UTSW	19	57049460	critical splice donor site	probably null
R3878:Ablim1	UTSW	19	57037210	splice site	probably null
R4354:Ablim1	UTSW	19	57155278	missense	probably damaging	1.00
R4543:Ablim1	UTSW	19	57077442	missense	possibly damaging	0.87
R4749:Ablim1	UTSW	19	57215721	missense	probably benign
R4860:Ablim1	UTSW	19	57079866	missense	probably damaging	1.00
R4860:Ablim1	UTSW	19	57079866	missense	probably damaging	1.00
R5072:Ablim1	UTSW	19	57073853	critical splice donor site	probably null
R5277:Ablim1	UTSW	19	57155261	missense	probably damaging	1.00
R5331:Ablim1	UTSW	19	57155249	missense	probably damaging	1.00
R5354:Ablim1	UTSW	19	57130923	missense	probably benign	0.07
R5893:Ablim1	UTSW	19	57215853	missense	probably benign	0.07
R5958:Ablim1	UTSW	19	57041935	missense	probably damaging	1.00
R6435:Ablim1	UTSW	19	57061355	missense	possibly damaging	0.69
R6460:Ablim1	UTSW	19	57079839	missense	possibly damaging	0.96
R6642:Ablim1	UTSW	19	57130852	missense	probably benign	0.03
R6662:Ablim1	UTSW	19	57073853	critical splice donor site	probably null
R6705:Ablim1	UTSW	19	57215821	missense	probably benign	0.01
R7111:Ablim1	UTSW	19	57073877	missense	probably benign	0.05
R7291:Ablim1	UTSW	19	57215908	missense	probably benign
R7363:Ablim1	UTSW	19	57215741	missense	probably benign	0.10
R7901:Ablim1	UTSW	19	57131002	splice site	probably null
R7974:Ablim1	UTSW	19	57044973	critical splice acceptor site	probably null
R8079:Ablim1	UTSW	19	57182224	critical splice donor site	probably null
R8087:Ablim1	UTSW	19	57182256	missense
R8120:Ablim1	UTSW	19	57046928	missense	probably benign	0.00
R8277:Ablim1	UTSW	19	57215919	missense	probably benign	0.10
R8339:Ablim1	UTSW	19	57043849	missense	probably benign	0.00
R8536:Ablim1	UTSW	19	57182286	intron	probably benign
R8857:Ablim1	UTSW	19	57130855	missense	possibly damaging	0.84
R8875:Ablim1	UTSW	19	57130954	missense	probably benign	0.00
R8983:Ablim1	UTSW	19	57239212	missense	probably benign	0.02
R9055:Ablim1	UTSW	19	57041966	missense	probably benign	0.10
R9475:Ablim1	UTSW	19	57239180	missense	probably benign	0.00
R9505:Ablim1	UTSW	19	57197350	intron	probably benign
R9695:Ablim1	UTSW	19	57182307	missense
R9762:Ablim1	UTSW	19	57037259	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACCAGGTACAGAGCCCTTCAG -3'
(R):5'- CCTAAAGGATGTGACATCACGCAGC -3'

Sequencing Primer
(F):5'- AGCTTAGTCCCAAACAGTGGTTC -3'
(R):5'- ACGCAGCAAGGCGTTTG -3'

Posted On

2014-03-28