Mutagenetix > Incidental Mutation

Incidental Mutation 'R7386:Ablim3'

573131

Institutional Source

Beutler Lab

Gene Symbol

Ablim3

Ensembl Gene

ENSMUSG00000032735

Gene Name

actin binding LIM protein family, member 3

Synonyms

D930036B08Rik

MMRRC Submission

045468-MU

Accession Numbers

Essential gene?

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

Stock #

R7386 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61932463-62044895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61955065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 308 (D308G)

Ref Sequence

ENSEMBL: ENSMUSP00000041243 (fasta)

Gene Model

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

AlphaFold

Q69ZX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049378
AA Change: D308G

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

SMART Domains

Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: D308G

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 damaging
Transcript: ENSMUST00000166783
AA Change: D308G

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

SMART Domains

Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: D308G

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

0.2985

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	T	18: 69,083,208 (GRCm39)	M2K	unknown	Het
Adamts17	A	T	7: 66,618,597 (GRCm39)	K370N	probably benign	Het
Adcy4	T	C	14: 56,015,784 (GRCm39)	Y435C	probably damaging	Het
Adgb	A	T	10: 10,253,693 (GRCm39)	F1216I	possibly damaging	Het
Akr1a1	G	A	4: 116,498,251 (GRCm39)	T98I	probably damaging	Het
Alyref2	G	T	1: 171,331,101 (GRCm39)		probably benign	Het
Ank3	T	A	10: 69,658,079 (GRCm39)	H168Q	unknown	Het
Bnc1	A	C	7: 81,624,240 (GRCm39)	L329R	possibly damaging	Het
Btaf1	G	A	19: 36,935,782 (GRCm39)	A191T	probably benign	Het
Carmil3	T	G	14: 55,735,204 (GRCm39)		probably null	Het
Cd200r1	C	A	16: 44,610,211 (GRCm39)	D143E	probably benign	Het
Cep112	A	G	11: 108,699,507 (GRCm39)	H98R	probably benign	Het
Cmya5	T	A	13: 93,205,831 (GRCm39)	Q3346L	probably damaging	Het
Cpne4	T	A	9: 104,749,939 (GRCm39)	V81E	possibly damaging	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Ctsj	A	T	13: 61,148,373 (GRCm39)	M307K	possibly damaging	Het
Ddhd2	G	T	8: 26,244,318 (GRCm39)	R103S	possibly damaging	Het
Depdc5	A	G	5: 33,085,280 (GRCm39)	T700A	probably benign	Het
Dhx57	A	C	17: 80,575,006 (GRCm39)	D657E	possibly damaging	Het
Dmbt1	G	A	7: 130,713,965 (GRCm39)	G1678S	unknown	Het
Dnajb1	A	G	8: 84,336,932 (GRCm39)	D234G	probably benign	Het
Dsc2	C	T	18: 20,174,983 (GRCm39)	V431M	possibly damaging	Het
Evi5	C	A	5: 107,957,689 (GRCm39)		probably null	Het
Exoc2	T	C	13: 31,090,646 (GRCm39)		probably null	Het
Foxo3	T	C	10: 42,073,356 (GRCm39)	D387G	probably benign	Het
Gda	A	G	19: 21,387,250 (GRCm39)	I325T	probably benign	Het
Iqgap1	A	G	7: 80,375,790 (GRCm39)	S1362P	probably damaging	Het
Klf10	G	T	15: 38,297,193 (GRCm39)	N282K	possibly damaging	Het
Mettl13	A	G	1: 162,375,723 (GRCm39)	Y35H	probably damaging	Het
Mill2	A	G	7: 18,592,215 (GRCm39)	T279A	probably benign	Het
Ncaph2	G	A	15: 89,254,459 (GRCm39)	W386*	probably null	Het
Nploc4	A	T	11: 120,299,707 (GRCm39)	S338T	probably benign	Het
Nrip1	T	C	16: 76,090,775 (GRCm39)	S261G	probably damaging	Het
Or2y16	T	C	11: 49,335,227 (GRCm39)	F183S	possibly damaging	Het
Or5al1	A	G	2: 85,989,874 (GRCm39)	V280A	possibly damaging	Het
Or7a38	T	A	10: 78,752,677 (GRCm39)	M1K	probably null	Het
Palld	A	G	8: 61,985,086 (GRCm39)	F1060L	unknown	Het
Pfas	C	G	11: 68,894,600 (GRCm39)	V22L	probably benign	Het
Pygo2	T	G	3: 89,340,128 (GRCm39)	F175L	probably benign	Het
Rnf2	T	C	1: 151,347,131 (GRCm39)	E316G	probably damaging	Het
Rtn4	T	A	11: 29,657,772 (GRCm39)	M642K	probably damaging	Het
Saa3	A	G	7: 46,364,347 (GRCm39)	C60R	unknown	Het
Saxo5	A	G	8: 3,537,079 (GRCm39)	K475R	probably benign	Het
Scap	A	G	9: 110,202,237 (GRCm39)	T202A	probably benign	Het
Scn9a	T	A	2: 66,370,894 (GRCm39)	D562V	probably damaging	Het
Slc6a19	A	T	13: 73,838,010 (GRCm39)	V163E	possibly damaging	Het
Smc5	G	A	19: 23,192,539 (GRCm39)	H850Y	possibly damaging	Het
Spef1l	A	T	7: 139,555,965 (GRCm39)	C225*	probably null	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Sulf1	T	C	1: 12,908,585 (GRCm39)	Y533H	probably benign	Het
Thbs2	A	G	17: 14,893,412 (GRCm39)	S923P	possibly damaging	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tmem132c	A	G	5: 127,640,990 (GRCm39)	K1054E	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnrc6c	T	A	11: 117,612,780 (GRCm39)	C313S	probably benign	Het
Top6bl	G	A	19: 4,713,586 (GRCm39)	R285*	probably null	Het
Tpm1	T	C	9: 66,935,449 (GRCm39)	I284M	probably benign	Het
Trpm4	A	T	7: 44,964,064 (GRCm39)	L722H	possibly damaging	Het
Trub2	T	G	2: 29,676,607 (GRCm39)	Q41P	probably benign	Het
Usp17le	A	C	7: 104,417,514 (GRCm39)		probably null	Het
Zfp398	G	A	6: 47,835,884 (GRCm39)	V148I	probably benign	Het
Zfp40	T	C	17: 23,395,981 (GRCm39)	E202G	probably damaging	Het
Zfp618	T	A	4: 63,013,622 (GRCm39)		probably null	Het
Zfp667	T	A	7: 6,308,949 (GRCm39)	I539N	possibly damaging	Het
Zfp738	A	T	13: 67,818,369 (GRCm39)	C541S	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
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
R7231:Ablim3	UTSW	18	61,938,135 (GRCm39)	critical splice donor site	probably null
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'- TAATGAAGTTGGCTGGGGACTC -3'
(R):5'- CAATGTTGTTCAACAGATGGCCTC -3'

Sequencing Primer
(F):5'- GACTCCAGCAGGACTTTGTC -3'
(R):5'- CCTCTGGGAGTATGGTTATTCTAAC -3'

Posted On

2019-09-13