Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Ablim3'

227280

Institutional Source

Beutler Lab

Gene Symbol

Ablim3

Ensembl Gene

ENSMUSG00000032735

Gene Name

actin binding LIM protein family, member 3

Synonyms

D930036B08Rik

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

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

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61799395-61911852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61857088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 83 (D83E)

Ref Sequence

ENSEMBL: ENSMUSP00000125836 (fasta)

Gene Model

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

AlphaFold

Q69ZX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049378
AA Change: D83E

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: D83E

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

possibly damaging
Transcript: ENSMUST00000166783
AA Change: D83E

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: D83E

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 63,898,737 (GRCm38)	R272P	possibly damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm38)	G508S	probably damaging	Het
Adamts13	C	A	2: 27,005,425 (GRCm38)	T1176N	probably benign	Het
Adgre5	T	C	8: 83,727,804 (GRCm38)	T357A	probably benign	Het
Akap8l	C	T	17: 32,332,483 (GRCm38)	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,119,636 (GRCm38)	V310A	probably benign	Het
Armh3	A	T	19: 45,965,381 (GRCm38)	I188K	probably damaging	Het
Bnipl	C	T	3: 95,244,211 (GRCm38)	G232E	probably damaging	Het
Btbd17	A	T	11: 114,791,952 (GRCm38)		probably null	Het
Cacna1s	G	A	1: 136,079,504 (GRCm38)	V173I	probably benign	Het
Ccdc122	T	C	14: 77,068,951 (GRCm38)		probably null	Het
Ces1a	T	A	8: 93,048,075 (GRCm38)	N12Y	probably benign	Het
Chrdl1	T	C	X: 143,303,418 (GRCm38)	I231V	probably benign	Het
Ciita	C	T	16: 10,518,353 (GRCm38)	T958I	probably benign	Het
Cnot1	G	T	8: 95,739,833 (GRCm38)	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,101,741 (GRCm38)	D240G	probably damaging	Het
Dlgap1	C	T	17: 70,662,770 (GRCm38)	R524C	probably damaging	Het
Dmd	G	C	X: 84,312,483 (GRCm38)	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,275,252 (GRCm38)	M453V	probably benign	Het
Ednrb	G	T	14: 103,817,099 (GRCm38)	N432K	probably benign	Het
Fcgbp	G	A	7: 28,120,389 (GRCm38)	G2514S	probably damaging	Het
Fez1	A	G	9: 36,867,945 (GRCm38)	K306R	probably benign	Het
Fmo4	A	G	1: 162,809,887 (GRCm38)	V12A	probably benign	Het
Fpgt	T	C	3: 155,087,874 (GRCm38)	Y172C	probably damaging	Het
Fsip2	T	A	2: 83,008,815 (GRCm38)	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477 (GRCm38)	R205*	probably null	Het
Grik5	A	T	7: 25,015,313 (GRCm38)	M752K	possibly damaging	Het
Herc2	A	G	7: 56,226,964 (GRCm38)	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,592,545 (GRCm38)	D439V	probably damaging	Het
Igsf3	A	G	3: 101,439,515 (GRCm38)	T609A	probably benign	Het
Kif5a	T	C	10: 127,245,369 (GRCm38)	D232G	probably damaging	Het
Lgi2	A	G	5: 52,538,505 (GRCm38)	S371P	probably damaging	Het
Marchf3	A	T	18: 56,811,853 (GRCm38)	V56E	possibly damaging	Het
Mib2	T	C	4: 155,659,701 (GRCm38)	D168G	probably damaging	Het
Nhs	T	A	X: 161,842,721 (GRCm38)	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,325,006 (GRCm38)	S683P	probably damaging	Het
Onecut3	T	G	10: 80,495,014 (GRCm38)	L3V	unknown	Het
Or12j2	T	C	7: 140,336,653 (GRCm38)	S264P	possibly damaging	Het
Or4c35	C	A	2: 89,978,213 (GRCm38)	T145K	probably benign	Het
Or5b102	A	T	19: 13,063,680 (GRCm38)	M90L	probably benign	Het
Otogl	C	T	10: 107,781,043 (GRCm38)	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,430,262 (GRCm38)	V128A	possibly damaging	Het
Pcnx2	A	T	8: 125,761,742 (GRCm38)	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819 (GRCm38)	L955P	probably damaging	Het
Phlpp2	T	C	8: 109,928,492 (GRCm38)	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,558,639 (GRCm38)	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,158,451 (GRCm38)	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,787,348 (GRCm38)		probably null	Het
Prune1	C	T	3: 95,255,408 (GRCm38)	R318Q	probably benign	Het
Psg27	A	G	7: 18,565,009 (GRCm38)	L129P	probably benign	Het
Psg27	T	C	7: 18,560,417 (GRCm38)	D355G	probably damaging	Het
Psmc6	A	G	14: 45,329,866 (GRCm38)	K7E	possibly damaging	Het
Reln	A	T	5: 21,919,177 (GRCm38)	V2777E	probably damaging	Het
Rigi	A	T	4: 40,224,069 (GRCm38)		probably null	Het
Scn11a	G	T	9: 119,811,208 (GRCm38)	A207E	possibly damaging	Het
Slc5a5	C	T	8: 70,892,439 (GRCm38)	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,265,307 (GRCm38)	L42*	probably null	Het
Smg1	T	C	7: 118,163,166 (GRCm38)		probably benign	Het
Smurf2	T	A	11: 106,841,769 (GRCm38)	Q335L	probably benign	Het
Sspo	A	T	6: 48,473,517 (GRCm38)	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,049 (GRCm38)	M256V	possibly damaging	Het
Syt1	A	G	10: 108,583,972 (GRCm38)	I276T	probably damaging	Het
Syt10	C	T	15: 89,790,776 (GRCm38)	D456N	probably damaging	Het
Taar9	A	T	10: 24,108,979 (GRCm38)	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,882,965 (GRCm38)	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,458,867 (GRCm38)	T1091A	probably benign	Het
Ttn	G	T	2: 76,937,776 (GRCm38)	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,779,571 (GRCm38)		probably null	Het
Ube3c	A	G	5: 29,635,640 (GRCm38)	E671G	probably benign	Het
Upf3a	A	G	8: 13,785,850 (GRCm38)	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,286,753 (GRCm38)	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,275,072 (GRCm38)	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,922,452 (GRCm38)	R549*	probably null	Het
Zfp37	A	T	4: 62,191,708 (GRCm38)	M411K	probably damaging	Het
Zfp747	T	A	7: 127,373,970 (GRCm38)	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,289,382 (GRCm38)	Q161L	unknown	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
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
R9457:Ablim3	UTSW	18	61,845,849 (GRCm38)	missense	probably benign	0.06
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'- TCTCAAGTGTCCAGAAACATCAG -3'
(R):5'- AAAGTCAGACAGCAGCCTTTC -3'

Sequencing Primer
(F):5'- CAGTGAAAAGCCTATATGCTCCTGAG -3'
(R):5'- AGCAGCCTTTCCCCTAGTAAGG -3'

Posted On

2014-09-17