Mutagenetix > Incidental Mutation

Incidental Mutation 'R1809:Ablim2'

203674

Institutional Source

Beutler Lab

Gene Symbol

Ablim2

Ensembl Gene

ENSMUSG00000029095

Gene Name

actin-binding LIM protein 2

Synonyms

MMRRC Submission

039838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R1809 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

35915224-36042317 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 36000614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054598] [ENSMUST00000101280] [ENSMUST00000114203] [ENSMUST00000114204] [ENSMUST00000114205] [ENSMUST00000114206] [ENSMUST00000114210] [ENSMUST00000129347] [ENSMUST00000130233]

AlphaFold

Q8BL65

Predicted Effect

probably benign
Transcript: ENSMUST00000054598

SMART Domains

Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
LIM	23	74	2.76e-8	SMART
LIM	82	134	1.26e-11	SMART
LIM	152	203	9.6e-17	SMART
LIM	211	263	4.96e-10	SMART
low complexity region	278	296	N/A	INTRINSIC
low complexity region	364	373	N/A	INTRINSIC
low complexity region	477	489	N/A	INTRINSIC
VHP	577	612	2.34e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101280

SMART Domains

Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
LIM	23	74	2.76e-8	SMART
LIM	82	134	1.26e-11	SMART
LIM	152	203	9.6e-17	SMART
LIM	211	263	4.96e-10	SMART
low complexity region	297	315	N/A	INTRINSIC
low complexity region	383	392	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC
VHP	572	607	2.34e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114203

SMART Domains

Protein: ENSMUSP00000109841
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
PDB:1WIG\|A	1	28	5e-13	PDB
low complexity region	35	53	N/A	INTRINSIC
low complexity region	132	141	N/A	INTRINSIC
low complexity region	211	223	N/A	INTRINSIC
VHP	311	346	2.34e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114204

SMART Domains

Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
LIM	23	74	2.76e-8	SMART
LIM	82	134	1.26e-11	SMART
LIM	152	203	9.6e-17	SMART
LIM	211	263	4.96e-10	SMART
low complexity region	278	296	N/A	INTRINSIC
low complexity region	364	373	N/A	INTRINSIC
low complexity region	510	522	N/A	INTRINSIC
VHP	571	606	2.34e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114205

SMART Domains

Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
LIM	23	74	2.76e-8	SMART
LIM	82	134	1.26e-11	SMART
LIM	152	203	9.6e-17	SMART
LIM	211	263	4.96e-10	SMART
low complexity region	278	296	N/A	INTRINSIC
low complexity region	364	373	N/A	INTRINSIC
low complexity region	477	489	N/A	INTRINSIC
VHP	538	573	2.34e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114206

SMART Domains

Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
LIM	23	74	2.76e-8	SMART
LIM	82	134	1.26e-11	SMART
LIM	152	203	9.6e-17	SMART
LIM	211	263	4.96e-10	SMART
low complexity region	278	296	N/A	INTRINSIC
low complexity region	375	384	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
VHP	582	617	2.34e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114210

SMART Domains

Protein: ENSMUSP00000109848
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
LIM	23	74	2.76e-8	SMART
LIM	82	134	1.26e-11	SMART
LIM	152	203	9.6e-17	SMART
LIM	211	263	4.96e-10	SMART
low complexity region	278	296	N/A	INTRINSIC
low complexity region	364	373	N/A	INTRINSIC
low complexity region	510	522	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129347

SMART Domains

Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
LIM	23	74	2.76e-8	SMART
LIM	82	134	1.26e-11	SMART
LIM	152	203	9.6e-17	SMART
LIM	211	263	4.96e-10	SMART
Pfam:AbLIM_anchor	295	513	2.1e-78	PFAM
Pfam:AbLIM_anchor	497	628	2.6e-37	PFAM
VHP	629	664	2.34e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125378

SMART Domains

Protein: ENSMUSP00000115931
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
Pfam:AbLIM_anchor	1	115	6.3e-29	PFAM
low complexity region	136	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135885

Predicted Effect

probably benign
Transcript: ENSMUST00000130233

SMART Domains

Protein: ENSMUSP00000118159
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	3e-6	BLAST
PDB:1WIG\|A	1	28	7e-13	PDB
low complexity region	54	72	N/A	INTRINSIC
low complexity region	151	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151636

SMART Domains

Protein: ENSMUSP00000123616
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
Pfam:AbLIM_anchor	22	148	5.6e-54	PFAM
low complexity region	171	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151322

SMART Domains

Protein: ENSMUSP00000114616
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
Pfam:AbLIM_anchor	12	164	4.3e-55	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (107/111)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	T	15: 94,238,968 (GRCm39)	S750N	probably damaging	Het
Adh6a	G	A	3: 138,036,722 (GRCm39)	R370H	possibly damaging	Het
Akr1b7	A	G	6: 34,396,046 (GRCm39)	N183D	probably damaging	Het
Aktip	A	T	8: 91,856,348 (GRCm39)	I43N	probably damaging	Het
Ankrd26	A	T	6: 118,502,883 (GRCm39)		probably benign	Het
Ano9	G	A	7: 140,688,717 (GRCm39)	T144I	possibly damaging	Het
Anpep	G	T	7: 79,491,571 (GRCm39)	D143E	probably benign	Het
Aox1	C	A	1: 58,333,484 (GRCm39)	Q234K	probably benign	Het
Ap1g1	C	G	8: 110,559,814 (GRCm39)		probably benign	Het
Arhgef4	G	A	1: 34,849,636 (GRCm39)		probably null	Het
Arsj	A	G	3: 126,231,944 (GRCm39)	Y230C	possibly damaging	Het
Asmt	C	T	X: 169,109,480 (GRCm39)		probably benign	Het
Astl	A	T	2: 127,187,405 (GRCm39)	K72N	probably damaging	Het
Atp2b2	G	A	6: 113,780,704 (GRCm39)		probably benign	Het
Baiap2l1	A	C	5: 144,261,365 (GRCm39)		probably null	Het
C7	A	T	15: 5,063,821 (GRCm39)	N193K	probably damaging	Het
Cacna2d4	G	T	6: 119,247,785 (GRCm39)	R362L	probably damaging	Het
Cct4	T	A	11: 22,947,615 (GRCm39)	D189E	probably benign	Het
Cd300lg	G	A	11: 101,933,938 (GRCm39)	G62S	probably benign	Het
Cdk14	T	A	5: 5,060,901 (GRCm39)	M307L	probably damaging	Het
Cfi	G	A	3: 129,666,768 (GRCm39)		probably null	Het
Clec2g	G	T	6: 128,957,273 (GRCm39)		probably null	Het
Cntnap2	T	C	6: 46,965,609 (GRCm39)	S807P	probably damaging	Het
Col6a3	T	A	1: 90,755,671 (GRCm39)	H206L	probably damaging	Het
Ct55	A	G	X: 52,735,716 (GRCm39)	E99G	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Degs1l	T	C	1: 180,887,252 (GRCm39)	I279T	probably damaging	Het
Dlec1	T	C	9: 118,965,767 (GRCm39)	V1058A	probably benign	Het
Dpp9	A	G	17: 56,506,038 (GRCm39)	Y454H	probably damaging	Het
Drosha	G	A	15: 12,890,198 (GRCm39)	G920R	probably null	Het
Duox2	A	G	2: 122,114,378 (GRCm39)	S1142P	possibly damaging	Het
Fam13a	C	T	6: 58,942,045 (GRCm39)		probably null	Het
Filip1l	A	G	16: 57,327,023 (GRCm39)	R18G	probably benign	Het
Foxa1	A	G	12: 57,589,527 (GRCm39)	V231A	probably damaging	Het
Gm4787	A	T	12: 81,425,303 (GRCm39)	M285K	possibly damaging	Het
Gm5084	T	A	13: 60,360,320 (GRCm39)		noncoding transcript	Het
Gm6788	G	A	19: 28,740,586 (GRCm39)		noncoding transcript	Het
Gm9922	G	T	14: 101,966,841 (GRCm39)		probably benign	Het
Gtf3c4	A	T	2: 28,723,988 (GRCm39)	Y440*	probably null	Het
Helq	A	G	5: 100,921,820 (GRCm39)	S795P	probably damaging	Het
Helz	T	A	11: 107,489,997 (GRCm39)	S151T	possibly damaging	Het
Irgm1	T	C	11: 48,757,440 (GRCm39)	T124A	probably benign	Het
Itgam	C	T	7: 127,670,109 (GRCm39)	P134S	possibly damaging	Het
Kdm6a	T	C	X: 18,102,923 (GRCm39)	Y217H	probably benign	Het
Kif6	T	C	17: 50,208,812 (GRCm39)	L744P	probably benign	Het
Kmt2c	C	T	5: 25,489,190 (GRCm39)	R1203H	probably damaging	Het
Ksr2	A	G	5: 117,693,535 (GRCm39)	T328A	probably damaging	Het
Lig1	T	C	7: 13,034,281 (GRCm39)		probably benign	Het
Lpar3	G	A	3: 145,946,303 (GRCm39)		probably benign	Het
Lrrk2	T	C	15: 91,584,095 (GRCm39)	F285S	possibly damaging	Het
Marchf7	A	G	2: 60,062,637 (GRCm39)	D148G	probably benign	Het
Mcee	T	C	7: 64,050,049 (GRCm39)	L60S	probably damaging	Het
Mob2	A	G	7: 141,570,111 (GRCm39)	I81T	probably damaging	Het
Mphosph8	T	A	14: 56,909,909 (GRCm39)	D87E	probably damaging	Het
Msantd5f9	A	G	4: 73,835,754 (GRCm39)	F237L	probably benign	Het
Myo1g	T	C	11: 6,462,283 (GRCm39)	T560A	probably benign	Het
Nagk	C	T	6: 83,774,169 (GRCm39)	T42I	probably benign	Het
Naip1	G	T	13: 100,562,747 (GRCm39)	T806K	probably benign	Het
Ncor2	A	G	5: 125,195,857 (GRCm39)		probably benign	Het
Ocln	G	T	13: 100,647,967 (GRCm39)	Y401*	probably null	Het
Odad2	T	A	18: 7,211,630 (GRCm39)	Y748F	probably benign	Het
Oma1	T	A	4: 103,182,374 (GRCm39)	N292K	probably damaging	Het
Or8b55	G	A	9: 38,727,443 (GRCm39)	V215I	probably benign	Het
Ovch2	T	A	7: 107,389,412 (GRCm39)		probably null	Het
Pcdhb16	T	C	18: 37,611,441 (GRCm39)	F134L	probably damaging	Het
Pipox	A	T	11: 77,772,360 (GRCm39)	Y337N	probably benign	Het
Polr3b	A	G	10: 84,528,865 (GRCm39)	D763G	probably damaging	Het
Pygo1	T	A	9: 72,852,078 (GRCm39)	N88K	probably damaging	Het
Rab3gap1	T	C	1: 127,862,251 (GRCm39)	M674T	probably damaging	Het
Rbm25	T	C	12: 83,719,501 (GRCm39)		probably benign	Het
Rbm26	C	T	14: 105,354,542 (GRCm39)		probably benign	Het
Rbms2	G	A	10: 127,974,055 (GRCm39)	T187I	possibly damaging	Het
Rnase11	T	A	14: 51,287,184 (GRCm39)	R123S	probably benign	Het
Rngtt	A	G	4: 33,443,614 (GRCm39)	N485D	probably benign	Het
Rp1l1	A	T	14: 64,265,415 (GRCm39)	M334L	probably benign	Het
Rps9	T	A	7: 3,707,726 (GRCm39)	L56Q	probably damaging	Het
Saysd1	C	A	14: 20,133,170 (GRCm39)		probably benign	Het
Sema4d	C	T	13: 51,867,727 (GRCm39)		probably null	Het
Shisa5	A	T	9: 108,869,998 (GRCm39)	D34V	probably damaging	Het
Skil	A	G	3: 31,171,655 (GRCm39)	D547G	probably damaging	Het
Slc2a5	T	A	4: 150,227,514 (GRCm39)	F444L	probably damaging	Het
Slc9b2	T	G	3: 135,022,892 (GRCm39)	C10G	possibly damaging	Het
Sorcs2	G	T	5: 36,386,564 (GRCm39)		probably benign	Het
Stk17b	T	G	1: 53,805,140 (GRCm39)	K140N	possibly damaging	Het
Stradb	T	A	1: 59,033,549 (GRCm39)	L404Q	possibly damaging	Het
Synj2	T	C	17: 6,076,826 (GRCm39)	M432T	possibly damaging	Het
Tanc1	G	T	2: 59,630,441 (GRCm39)	R800L	probably damaging	Het
Tenm4	A	G	7: 96,522,987 (GRCm39)	M1473V	probably benign	Het
Tesc	A	G	5: 118,199,667 (GRCm39)	I190V	probably benign	Het
Tex15	T	C	8: 34,064,262 (GRCm39)	F1231L	probably benign	Het
Thrsp	T	C	7: 97,066,332 (GRCm39)	I127V	probably benign	Het
Tlr6	A	T	5: 65,111,055 (GRCm39)	C617*	probably null	Het
Trank1	A	T	9: 111,221,893 (GRCm39)	I2877F	probably benign	Het
Tut4	T	A	4: 108,406,552 (GRCm39)	H1373Q	probably damaging	Het
Ucp1	T	C	8: 84,024,496 (GRCm39)	S274P	probably damaging	Het
Ucp2	T	A	7: 100,147,606 (GRCm39)	V195E	probably damaging	Het
Vars2	T	C	17: 35,973,108 (GRCm39)	T394A	probably damaging	Het
Vmn1r1	A	G	1: 181,985,371 (GRCm39)	V98A	possibly damaging	Het
Vmn1r225	A	G	17: 20,722,918 (GRCm39)	I120V	probably benign	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r25	A	G	6: 123,802,337 (GRCm39)	V522A	probably benign	Het
Vmn2r70	T	C	7: 85,215,130 (GRCm39)	I135V	probably benign	Het
Vwf	T	C	6: 125,567,138 (GRCm39)		probably benign	Het
Zfp446	T	C	7: 12,713,048 (GRCm39)	F29L	probably damaging	Het

Other mutations in Ablim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Ablim2	APN	5	35,981,359 (GRCm39)	unclassified	probably benign
IGL00945:Ablim2	APN	5	35,994,364 (GRCm39)	missense	probably damaging	1.00
IGL02439:Ablim2	APN	5	36,015,206 (GRCm39)	missense	possibly damaging	0.89
IGL02664:Ablim2	APN	5	36,006,860 (GRCm39)	missense	probably damaging	1.00
IGL02897:Ablim2	APN	5	35,990,470 (GRCm39)	missense	probably damaging	1.00
IGL03034:Ablim2	APN	5	35,985,509 (GRCm39)	missense	probably benign	0.00
IGL03096:Ablim2	APN	5	36,040,743 (GRCm39)	nonsense	probably null
IGL03384:Ablim2	APN	5	36,032,216 (GRCm39)	missense	probably damaging	1.00
R0128:Ablim2	UTSW	5	35,966,520 (GRCm39)	splice site	probably benign
R0130:Ablim2	UTSW	5	35,966,520 (GRCm39)	splice site	probably benign
R0212:Ablim2	UTSW	5	36,006,254 (GRCm39)	splice site	probably null
R0344:Ablim2	UTSW	5	35,994,277 (GRCm39)	splice site	probably benign
R0675:Ablim2	UTSW	5	36,024,124 (GRCm39)	splice site	probably benign
R0788:Ablim2	UTSW	5	36,015,245 (GRCm39)	missense	probably benign	0.01
R1148:Ablim2	UTSW	5	35,966,605 (GRCm39)	missense	probably damaging	1.00
R1148:Ablim2	UTSW	5	35,966,605 (GRCm39)	missense	probably damaging	1.00
R1493:Ablim2	UTSW	5	35,966,605 (GRCm39)	missense	probably damaging	1.00
R2070:Ablim2	UTSW	5	35,955,857 (GRCm39)	missense	probably damaging	1.00
R2163:Ablim2	UTSW	5	35,959,697 (GRCm39)	splice site	probably benign
R3962:Ablim2	UTSW	5	35,969,519 (GRCm39)	missense	probably damaging	1.00
R4852:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R4853:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R4854:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R4855:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R4866:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R4867:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R4906:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R4908:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R4909:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R4927:Ablim2	UTSW	5	35,959,766 (GRCm39)	missense	possibly damaging	0.85
R5210:Ablim2	UTSW	5	35,994,416 (GRCm39)	missense	probably benign	0.44
R5225:Ablim2	UTSW	5	36,024,115 (GRCm39)	splice site	probably null
R5439:Ablim2	UTSW	5	36,015,170 (GRCm39)	missense	probably damaging	0.98
R5528:Ablim2	UTSW	5	36,013,510 (GRCm39)	nonsense	probably null
R5629:Ablim2	UTSW	5	36,014,507 (GRCm39)	missense	probably benign	0.01
R5653:Ablim2	UTSW	5	36,040,756 (GRCm39)	missense	probably damaging	1.00
R5921:Ablim2	UTSW	5	35,969,555 (GRCm39)	missense	probably damaging	1.00
R6059:Ablim2	UTSW	5	36,014,508 (GRCm39)	missense	probably benign	0.37
R6241:Ablim2	UTSW	5	36,032,241 (GRCm39)	missense	probably damaging	1.00
R7492:Ablim2	UTSW	5	35,998,673 (GRCm39)	missense	probably benign	0.14
R7562:Ablim2	UTSW	5	36,030,563 (GRCm39)	missense	probably benign	0.00
R7960:Ablim2	UTSW	5	36,014,493 (GRCm39)	missense	probably benign	0.01
R8414:Ablim2	UTSW	5	36,032,235 (GRCm39)	missense	possibly damaging	0.95
R8557:Ablim2	UTSW	5	35,985,483 (GRCm39)	missense	probably damaging	1.00
R8690:Ablim2	UTSW	5	36,030,518 (GRCm39)	missense	possibly damaging	0.48
R8710:Ablim2	UTSW	5	36,030,518 (GRCm39)	missense	possibly damaging	0.48
R8713:Ablim2	UTSW	5	36,030,518 (GRCm39)	missense	possibly damaging	0.48
R9059:Ablim2	UTSW	5	35,959,850 (GRCm39)	missense	probably damaging	1.00
R9452:Ablim2	UTSW	5	36,015,198 (GRCm39)	missense	probably benign	0.00
R9622:Ablim2	UTSW	5	36,006,889 (GRCm39)	missense	probably damaging	1.00
Z1176:Ablim2	UTSW	5	36,006,202 (GRCm39)	missense	possibly damaging	0.84
Z1177:Ablim2	UTSW	5	35,998,637 (GRCm39)	small deletion	probably benign
Z1177:Ablim2	UTSW	5	35,981,387 (GRCm39)	missense	probably damaging	0.98
Z1188:Ablim2	UTSW	5	35,994,367 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTGGGTGATCCTCTTCAGG -3'
(R):5'- AGCTGTCCTCTTAGTGACAAATC -3'

Sequencing Primer
(F):5'- AATGTCCCTGGCAGGTGG -3'
(R):5'- GACAAATCACCCTGTTTTCCTTCCAG -3'

Posted On

2014-06-23