Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Ablim1'

566456

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

Accession Numbers

Genbank: NM_178688; MGI: 1194500

Essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57032733-57314919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57215908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

Ref Sequence

ENSEMBL: ENSMUSP00000078336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079360] [ENSMUST00000111524] [ENSMUST00000111555] [ENSMUST00000111558] [ENSMUST00000111559]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079360
AA Change: E17G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: E17G

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 benign
Transcript: ENSMUST00000111524

SMART Domains

Protein: ENSMUSP00000107149
Gene: ENSMUSG00000025085

Domain	Start	End	E-Value	Type
LIM	21	72	1.14e-9	SMART
LIM	80	132	1.37e-12	SMART
LIM	148	199	1.12e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111555
AA Change: E17G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: E17G

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 benign
Transcript: ENSMUST00000111558

SMART Domains

Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085

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 benign
Transcript: ENSMUST00000111559

SMART Domains

Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,553	E51G	possibly damaging	Het
9530053A07Rik	A	C	7: 28,140,220	D486A	probably benign	Het
Abca14	C	A	7: 120,289,609	C1259*	probably null	Het
Acsf3	G	A	8: 122,813,577	V505I	probably benign	Het
Actn1	T	C	12: 80,174,085	M650V	probably benign	Het
Adamts4	G	A	1: 171,256,528	V525I	probably benign	Het
Adh1	T	C	3: 138,282,808	Y181H	probably damaging	Het
Alpl	G	A	4: 137,752,698	R168W	probably damaging	Het
Ate1	T	G	7: 130,519,931	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,811,091	F314L	probably damaging	Het
Baiap3	T	A	17: 25,244,317	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,267,696	T504M	probably damaging	Het
C1s2	T	A	6: 124,625,384	I623F	probably benign	Het
Card11	T	C	5: 140,901,070	D308G	probably damaging	Het
Cul9	C	T	17: 46,540,433	V354I	probably benign	Het
Dnah1	A	T	14: 31,298,705	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590	I4266F	possibly damaging	Het
Ear10	A	T	14: 43,922,920	V150D	probably damaging	Het
Elfn2	C	T	15: 78,672,983	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895	H104Q	probably benign	Het
Fcgbp	A	G	7: 28,101,392	N1288D	probably benign	Het
Fcrl1	T	C	3: 87,385,781		probably null	Het
Fmo2	G	T	1: 162,887,702	P117Q	probably benign	Het
Fsip2	A	G	2: 82,980,519	K2394R	possibly damaging	Het
Gab1	T	G	8: 80,800,151	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,351,414	V248A	probably damaging	Het
Gemin6	T	C	17: 80,227,775	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,175,024	V701I	probably benign	Het
Gm3250	T	C	10: 77,782,227	T106A	unknown	Het
Gm7356	T	C	17: 14,001,581	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,902,840	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,325,729	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,925,339	L716S	probably damaging	Het
Hecw2	A	G	1: 53,914,594	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,974,815	S151N	probably benign	Het
Il15ra	C	T	2: 11,718,381	T72I	probably damaging	Het
Ints1	A	G	5: 139,765,074	L858P	probably damaging	Het
Kat2a	C	T	11: 100,710,900	V230I	possibly damaging	Het
Kcnq2	A	T	2: 181,088,379	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,679,046	T229I	possibly damaging	Het
Ly75	T	A	2: 60,329,993	I957F	probably damaging	Het
Map3k12	T	A	15: 102,502,166	R459W	probably damaging	Het
Mia2	T	A	12: 59,158,369		probably null	Het
Mrgprf	A	G	7: 145,307,469	I53V	unknown	Het
Mttp	A	G	3: 138,091,203	L846P	probably damaging	Het
Myrip	C	T	9: 120,417,141	L112F	probably damaging	Het
Nav1	A	G	1: 135,465,859	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,759,203	D327G	possibly damaging	Het
Notch1	C	T	2: 26,476,375	V776I	probably benign	Het
Obsl1	G	T	1: 75,489,517	D1522E	probably damaging	Het
Olfr1464-ps1	A	T	19: 13,282,153	F302I	unknown	Het
Olfr605	T	A	7: 103,442,788	M112L	probably benign	Het
Olfr823	T	C	10: 130,112,224	K189E	probably benign	Het
Olfr859	T	C	9: 19,808,648	M110T	possibly damaging	Het
Pde7a	T	C	3: 19,227,674	N471D	probably benign	Het
Pla2r1	T	C	2: 60,530,435	H203R	probably benign	Het
Plch2	C	A	4: 154,998,472	C573F	probably damaging	Het
Polr1a	G	A	6: 71,941,456	R666Q	probably benign	Het
Prepl	T	C	17: 85,081,240	N145S	probably benign	Het
Psen2	C	T	1: 180,238,956	V139M	probably benign	Het
Ptgdr	A	T	14: 44,859,192	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,691,239	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,032,298	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,969,462	M824K	probably benign	Het
Sel1l	T	C	12: 91,848,965	T23A	probably benign	Het
Sele	A	G	1: 164,053,868	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,197,839	N421D	probably damaging	Het
Slc35f3	T	G	8: 126,394,558	L386R	probably benign	Het
Stab2	G	A	10: 86,946,220	S699L	probably damaging	Het
Synrg	A	T	11: 84,009,381	L726F	probably damaging	Het
Syt3	G	A	7: 44,395,919	V528M	probably damaging	Het
Szt2	A	G	4: 118,391,249	I655T	probably damaging	Het
Tbr1	T	C	2: 61,812,256	S622P	probably damaging	Het
Tex36	C	T	7: 133,587,223	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,312,942	W13*	probably null	Het
Trdn	A	T	10: 33,437,736	E500V	probably null	Het
Ugt2b38	A	T	5: 87,411,895	N379K	probably damaging	Het
Unc13d	T	C	11: 116,074,050	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,278,749	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,574,209	I733V	probably benign	Het
Zfp870	T	A	17: 32,883,854	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,549,304	M179L	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
R0226:Ablim1	UTSW	19	57043870	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
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'- TTACCGGATGGATCATAGCTGC -3'
(R):5'- TGGCTAAGCTCCTGAGGGTAATC -3'

Sequencing Primer
(F):5'- ATAGCTGCTAAACCTGAGCTCTGG -3'
(R):5'- GCTAGGGGAACTGCTACT -3'

Posted On

2019-06-26