Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Ablim3'

714692

Institutional Source

Beutler Lab

Gene Symbol

Ablim3

Ensembl Gene

ENSMUSG00000032735

Gene Name

actin binding LIM protein family, member 3

Synonyms

D930036B08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61799395-61911852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61845849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 204 (S204P)

Ref Sequence

ENSEMBL: ENSMUSP00000041243 (fasta)

Gene Model

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

AlphaFold

Q69ZX8

Predicted Effect

probably benign
Transcript: ENSMUST00000049378
AA Change: S204P

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: S204P

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 benign
Transcript: ENSMUST00000166783
AA Change: S204P

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: S204P

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,179,246 (GRCm38)	H181R	probably benign	Het
4930404N11Rik	C	A	10: 81,365,777 (GRCm38)	V4L	probably benign	Het
4930430A15Rik	A	T	2: 111,170,286 (GRCm38)	M196K	unknown	Het
4932415D10Rik	A	G	10: 82,286,739 (GRCm38)	V3479A	probably benign	Het
A930009A15Rik	T	C	10: 115,578,331 (GRCm38)	L54P	unknown	Het
Acadl	A	G	1: 66,853,241 (GRCm38)	V141A	probably benign	Het
Ace3	A	G	11: 105,994,861 (GRCm38)	D31G	probably benign	Het
Adam11	T	G	11: 102,769,898 (GRCm38)	V85G	probably benign	Het
Adarb1	A	T	10: 77,322,148 (GRCm38)	M155K	possibly damaging	Het
Arhgap10	G	A	8: 77,384,786 (GRCm38)	T376M	probably benign	Het
Bod1l	G	T	5: 41,821,967 (GRCm38)	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,841,631 (GRCm38)	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329 (GRCm38)	I37N	probably damaging	Het
Cfap99	T	G	5: 34,301,397 (GRCm38)	F45L	probably benign	Het
Chsy1	C	A	7: 66,172,400 (GRCm38)	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,954,086 (GRCm38)	V45I	probably benign	Het
Clic3	G	A	2: 25,457,718 (GRCm38)	V32I	probably benign	Het
Clip2	A	T	5: 134,502,730 (GRCm38)	D740E	probably benign	Het
Col5a2	C	T	1: 45,386,844 (GRCm38)	V1062I	probably benign	Het
Col5a2	A	G	1: 45,392,813 (GRCm38)		probably null	Het
Cyp2j11	C	T	4: 96,307,359 (GRCm38)	V367I	probably damaging	Het
Ddr1	C	T	17: 35,682,758 (GRCm38)	A821T	possibly damaging	Het
Dna2	G	A	10: 62,950,793 (GRCm38)	E107K	probably benign	Het
Eif3d	A	G	15: 77,959,694 (GRCm38)	V484A	probably benign	Het
Fgfr4	A	G	13: 55,161,127 (GRCm38)	T354A	probably benign	Het
Fkbp6	T	C	5: 135,349,632 (GRCm38)	D54G	probably benign	Het
Gm4787	T	A	12: 81,379,246 (GRCm38)	E46V	probably damaging	Het
Gm47995	A	G	1: 151,198,475 (GRCm38)	T10A	possibly damaging	Het
Gm498	T	C	7: 143,883,976 (GRCm38)	V137A	possibly damaging	Het
Gnb1l	T	A	16: 18,540,995 (GRCm38)	I50N	probably damaging	Het
Gphb5	A	T	12: 75,415,749 (GRCm38)	V22D	probably damaging	Het
Gstt4	C	T	10: 75,815,125 (GRCm38)	C221Y	probably benign	Het
Hmces	T	C	6: 87,933,274 (GRCm38)	V222A	possibly damaging	Het
Kat14	T	A	2: 144,373,782 (GRCm38)	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,181,869 (GRCm38)	V89E	probably benign	Het
Kif23	T	A	9: 61,944,225 (GRCm38)	N63I	probably benign	Het
Lamc2	T	C	1: 153,139,854 (GRCm38)	M578V	probably benign	Het
Ltbp2	A	T	12: 84,789,153 (GRCm38)	C1335S	probably benign	Het
Lyst	A	G	13: 13,687,745 (GRCm38)	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,384,674 (GRCm38)	H47L	probably benign	Het
Micalcl	A	G	7: 112,411,458 (GRCm38)	K618R	probably damaging	Het
Mllt6	T	C	11: 97,665,760 (GRCm38)	I92T	probably benign	Het
Morc2a	A	G	11: 3,676,184 (GRCm38)	I223V	probably benign	Het
Msh3	A	T	13: 92,345,086 (GRCm38)	I306N	probably benign	Het
Myo3b	T	A	2: 70,095,209 (GRCm38)	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,813,984 (GRCm38)	V700E	probably damaging	Het
Oit3	T	A	10: 59,441,683 (GRCm38)	M1L	unknown	Het
Olfr1048	A	T	2: 86,236,472 (GRCm38)	I114K	probably damaging	Het
Olfr1231	A	T	2: 89,302,731 (GRCm38)	I287N	probably damaging	Het
Olfr606	T	A	7: 103,451,411 (GRCm38)	F25I	probably benign	Het
Peg3	T	G	7: 6,707,999 (GRCm38)	D1408A	probably damaging	Het
Plaa	A	C	4: 94,586,883 (GRCm38)	S201R	possibly damaging	Het
Psmd5	A	G	2: 34,854,326 (GRCm38)	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,334,554 (GRCm38)	I1701V	probably damaging	Het
Rnf32	G	A	5: 29,206,186 (GRCm38)	A157T	probably damaging	Het
Rrad	T	A	8: 104,629,727 (GRCm38)		probably null	Het
Samm50	T	A	15: 84,207,841 (GRCm38)	L339Q	probably damaging	Het
Scin	T	C	12: 40,104,958 (GRCm38)	E212G	possibly damaging	Het
Scrib	T	C	15: 76,067,299 (GRCm38)	D146G	probably damaging	Het
Slc19a1	G	A	10: 77,049,771 (GRCm38)	D502N	probably benign	Het
Slc4a4	T	C	5: 89,214,573 (GRCm38)	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,806,260 (GRCm38)	D764G	probably damaging	Het
Slc6a19	G	A	13: 73,681,765 (GRCm38)	A590V	probably damaging	Het
Slfn8	G	T	11: 83,017,706 (GRCm38)	H4N	probably benign	Het
Smad9	T	A	3: 54,789,335 (GRCm38)	F274I	possibly damaging	Het
Snx4	A	G	16: 33,286,010 (GRCm38)	E271G	probably benign	Het
Thap4	G	A	1: 93,750,306 (GRCm38)	R253*	probably null	Het
Tmem65	T	A	15: 58,790,179 (GRCm38)	I144F		Het
Tnrc6a	G	A	7: 123,179,735 (GRCm38)	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,527,763 (GRCm38)		probably benign	Het
Trpm2	T	C	10: 77,911,392 (GRCm38)	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,826,668 (GRCm38)	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,024,523 (GRCm38)	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,456,012 (GRCm38)	E273V	probably damaging	Het
Vps52	A	G	17: 33,962,182 (GRCm38)	D466G	probably damaging	Het
Xirp2	T	C	2: 67,515,632 (GRCm38)	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,434,750 (GRCm38)	S1003F	unknown	Het
Zyg11a	A	T	4: 108,217,905 (GRCm38)	H6Q	probably damaging	Het

Other mutations in Ablim3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Ablim3	APN	18	61,849,406 (GRCm38)	missense	possibly damaging	0.83
IGL00954:Ablim3	APN	18	61,839,685 (GRCm38)	splice site	probably benign
IGL01012:Ablim3	APN	18	61,839,701 (GRCm38)	missense	possibly damaging	0.91
IGL01402:Ablim3	APN	18	61,871,683 (GRCm38)	missense	probably damaging	0.99
IGL01404:Ablim3	APN	18	61,871,683 (GRCm38)	missense	probably damaging	0.99
IGL01609:Ablim3	APN	18	61,822,021 (GRCm38)	missense	probably benign	0.05
IGL01710:Ablim3	APN	18	61,871,574 (GRCm38)	missense	probably damaging	1.00
IGL01775:Ablim3	APN	18	61,816,918 (GRCm38)	splice site	probably benign
IGL02967:Ablim3	APN	18	61,826,503 (GRCm38)	nonsense	probably null
IGL03409:Ablim3	APN	18	61,845,851 (GRCm38)	missense	probably damaging	1.00
R0143:Ablim3	UTSW	18	61,855,217 (GRCm38)	missense	probably benign	0.20
R0601:Ablim3	UTSW	18	61,849,370 (GRCm38)	missense	probably benign	0.19
R1067:Ablim3	UTSW	18	61,823,947 (GRCm38)	splice site	probably benign
R1642:Ablim3	UTSW	18	61,814,311 (GRCm38)	missense	probably benign	0.26
R1851:Ablim3	UTSW	18	61,849,395 (GRCm38)	missense	probably benign	0.33
R1852:Ablim3	UTSW	18	61,849,395 (GRCm38)	missense	probably benign	0.33
R2072:Ablim3	UTSW	18	61,857,088 (GRCm38)	missense	possibly damaging	0.74
R2763:Ablim3	UTSW	18	61,813,544 (GRCm38)	nonsense	probably null
R4865:Ablim3	UTSW	18	61,805,086 (GRCm38)	missense	probably damaging	1.00
R5190:Ablim3	UTSW	18	61,819,911 (GRCm38)	missense	probably benign	0.00
R5353:Ablim3	UTSW	18	61,801,399 (GRCm38)	missense	probably damaging	1.00
R5442:Ablim3	UTSW	18	61,857,225 (GRCm38)	splice site	probably null
R5835:Ablim3	UTSW	18	61,823,922 (GRCm38)	missense	probably damaging	1.00
R6547:Ablim3	UTSW	18	61,823,929 (GRCm38)	missense	probably benign	0.01
R7231:Ablim3	UTSW	18	61,805,064 (GRCm38)	critical splice donor site	probably null
R7386:Ablim3	UTSW	18	61,821,994 (GRCm38)	missense	probably damaging	1.00
R7404:Ablim3	UTSW	18	61,822,028 (GRCm38)	missense	probably damaging	0.99
R7529:Ablim3	UTSW	18	61,821,968 (GRCm38)	missense	probably benign
R8979:Ablim3	UTSW	18	61,849,326 (GRCm38)	missense	probably benign
R9037:Ablim3	UTSW	18	61,818,995 (GRCm38)	missense	probably benign	0.10
R9095:Ablim3	UTSW	18	61,820,392 (GRCm38)	missense	probably benign	0.01
R9250:Ablim3	UTSW	18	61,811,430 (GRCm38)	missense	probably damaging	1.00
R9320:Ablim3	UTSW	18	61,839,734 (GRCm38)	missense	probably damaging	1.00
R9454:Ablim3	UTSW	18	61,818,996 (GRCm38)	missense	possibly damaging	0.79
R9591:Ablim3	UTSW	18	61,821,913 (GRCm38)	missense	probably benign	0.15
R9761:Ablim3	UTSW	18	61,819,814 (GRCm38)	missense	possibly damaging	0.82
X0028:Ablim3	UTSW	18	61,805,112 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAAGGTTATCTGGTCAGG -3'
(R):5'- GGGCAGTTTGAGTTTGAAAAGC -3'

Sequencing Primer
(F):5'- AAGGTTATCTGGTCAGGGCCAC -3'
(R):5'- GAGTTTGAAAAGCATTCTCAACCTCC -3'

Posted On

2022-06-15