Mutagenetix > Incidental Mutations

Incidental Mutation 'R0226:Ablim1'

33976

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

038471-MU

Accession Numbers

Genbank: NM_178688; MGI: 1194500

Is this an essential gene?

Possibly non essential (E-score: 0.445) question?

Stock #

R0226 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

57032733-57314919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57043870 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 556 (L556Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107184 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079360
AA Change: L703Q

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

SMART Domains

Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: L703Q

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: L496Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: L496Q

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: L387Q

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

SMART Domains

Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
AA Change: L387Q

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: L242Q

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

SMART Domains

Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
AA Change: L242Q

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: L296Q

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

SMART Domains

Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
AA Change: L296Q

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: L268Q

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

SMART Domains

Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
AA Change: L268Q

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

probably damaging
Transcript: ENSMUST00000111544
AA Change: L510Q

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

SMART Domains

Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: L510Q

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 damaging
Transcript: ENSMUST00000111546
AA Change: L543Q

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

SMART Domains

Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: L543Q

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: L524Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: L524Q

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: L619Q

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

SMART Domains

Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: L619Q

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: L586Q

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

SMART Domains

Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: L586Q

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: L556Q

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

SMART Domains

Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: L556Q

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: ENSMUST00000137389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127198

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018		probably null	Het
Afdn	A	G	17: 13,899,146	T1700A	probably benign	Het
Agl	G	A	3: 116,752,071	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,270	C180*	probably null	Het
Aim2	A	G	1: 173,462,333		probably benign	Het
Angpt1	T	C	15: 42,468,235	N320S	probably benign	Het
Ankrd52	T	A	10: 128,389,858		probably null	Het
Ap1g1	C	T	8: 109,855,062	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843	T161A	probably benign	Het
Car6	T	C	4: 150,187,508	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852		probably benign	Het
Cyp4f18	T	C	8: 71,989,775		probably benign	Het
Dtnbp1	A	G	13: 44,923,193	L175P	probably damaging	Het
Efl1	T	C	7: 82,693,011		probably benign	Het
Fbn1	C	T	2: 125,320,910	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076		probably benign	Het
Hdgfl1	A	T	13: 26,769,996	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394	I454T	probably benign	Het
Itih2	T	C	2: 10,115,299	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,842,952	I304V	probably benign	Het
Kcnh1	G	A	1: 192,276,804	W222*	probably null	Het
Kcnh1	G	T	1: 192,276,805	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117		probably benign	Het
Lrp2	A	T	2: 69,537,563	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820	N208D	probably damaging	Het
Mcm5	C	T	8: 75,126,252	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,634,446	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690		probably benign	Het
Mgat4e	A	G	1: 134,541,103	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732		probably benign	Het
Myo3b	A	G	2: 70,217,166	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180	F1552L	probably benign	Het
Myo7b	C	T	18: 31,972,896	V1353I	probably benign	Het
Myo9b	T	C	8: 71,353,832	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687		probably benign	Het
Pfkl	T	C	10: 77,992,534	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122		probably benign	Het
Sec14l5	A	G	16: 5,180,303	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698		probably benign	Het
Taar2	T	C	10: 23,941,063	V167A	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,900	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169		probably benign	Het
Tmem173	A	T	18: 35,739,088	F120L	probably benign	Het
Tnfaip3	T	C	10: 19,002,747	K771R	probably damaging	Het
Treml1	C	T	17: 48,360,458	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209	S244R	probably benign	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
R1419:Ablim1	UTSW	19	57134633	missense	probably damaging	1.00
R1473:Ablim1	UTSW	19	57068236	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

Predicted Primers

PCR Primer
(F):5'- TCTGTACCTCTGGACAGGGCAATC -3'
(R):5'- TGAAGCCTAGCACTGGAAAGCTAAC -3'

Sequencing Primer
(F):5'- CTGGACAGGGCAATCTATTTTAAGC -3'
(R):5'- CTGGAAAGCTAACAGGGCTTC -3'

Posted On

2013-05-09