Mutagenetix > Incidental Mutation

Incidental Mutation 'R4909:Ablim2'

379274

Institutional Source

Beutler Lab

Gene Symbol

Ablim2

Ensembl Gene

ENSMUSG00000029095

Gene Name

actin-binding LIM protein 2

Synonyms

MMRRC Submission

042511-MU

Accession Numbers

Essential gene?

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

Stock #

R4909 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35915224-36042317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35959766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 73 (R73C)

Ref Sequence

ENSEMBL: ENSMUSP00000109848 (fasta)

Gene Model

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

AlphaFold

Q8BL65

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054598
AA Change: R73C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095
AA Change: R73C

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

possibly damaging
Transcript: ENSMUST00000101280
AA Change: R73C

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095
AA Change: R73C

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

possibly damaging
Transcript: ENSMUST00000114204
AA Change: R73C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095
AA Change: R73C

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

possibly damaging
Transcript: ENSMUST00000114205
AA Change: R73C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095
AA Change: R73C

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

possibly damaging
Transcript: ENSMUST00000114206
AA Change: R73C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095
AA Change: R73C

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

possibly damaging
Transcript: ENSMUST00000114210
AA Change: R73C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109848
Gene: ENSMUSG00000029095
AA Change: R73C

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

possibly damaging
Transcript: ENSMUST00000129347
AA Change: R73C

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095
AA Change: R73C

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,865,089 (GRCm39)		noncoding transcript	Het
Aars1	G	A	8: 111,781,715 (GRCm39)	G929D	probably damaging	Het
Actn4	A	T	7: 28,598,082 (GRCm39)	L506Q	probably damaging	Het
Adam26a	A	T	8: 44,023,475 (GRCm39)	F5Y	probably benign	Het
Adamts5	G	A	16: 85,696,954 (GRCm39)	Q68*	probably null	Het
Adcy9	A	G	16: 4,116,618 (GRCm39)	I871T	probably benign	Het
Ak5	A	T	3: 152,361,514 (GRCm39)	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,342,483 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,555,805 (GRCm39)	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,564,989 (GRCm39)	D60G	possibly damaging	Het
Apold1	G	A	6: 134,960,558 (GRCm39)	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,152,846 (GRCm39)	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,474,666 (GRCm39)	I622S	probably damaging	Het
Bmper	G	T	9: 23,289,021 (GRCm39)	V339F	probably benign	Het
Btbd8	C	T	5: 107,655,176 (GRCm39)	Q992*	probably null	Het
C1ra	A	G	6: 124,499,293 (GRCm39)	D493G	probably damaging	Het
C3	C	T	17: 57,533,830 (GRCm39)		probably null	Het
Cabp4	T	A	19: 4,187,120 (GRCm39)	I209F	possibly damaging	Het
Cacna1s	A	T	1: 136,007,342 (GRCm39)	H453L	probably damaging	Het
Camk2g	A	G	14: 20,842,652 (GRCm39)	V32A	probably benign	Het
Ccdc175	G	A	12: 72,206,527 (GRCm39)	R240C	probably damaging	Het
Cdk13	C	T	13: 17,946,988 (GRCm39)	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,357,443 (GRCm39)	T24S	probably benign	Het
Clca3a1	T	G	3: 144,730,324 (GRCm39)	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058 (GRCm39)		probably benign	Het
Colgalt1	A	T	8: 72,073,277 (GRCm39)	I323F	possibly damaging	Het
Cpeb3	A	T	19: 37,152,059 (GRCm39)	S106T	probably damaging	Het
Cpeb3	T	C	19: 37,151,633 (GRCm39)	S248G	possibly damaging	Het
Ctcfl	C	T	2: 172,937,191 (GRCm39)	A576T	probably benign	Het
Cyp4f16	T	G	17: 32,769,295 (GRCm39)	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,415,462 (GRCm39)	G605S	probably damaging	Het
Egflam	A	T	15: 7,249,110 (GRCm39)	F903I	probably damaging	Het
Eif5a	G	A	11: 69,808,311 (GRCm39)	A62V	possibly damaging	Het
Fam217a	A	G	13: 35,094,389 (GRCm39)	S609P	probably damaging	Het
Fhad1	T	A	4: 141,712,822 (GRCm39)	I206F	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fras1	T	A	5: 96,856,617 (GRCm39)	M2000K	probably benign	Het
Frmd5	C	T	2: 121,422,134 (GRCm39)		probably null	Het
Gle1	T	C	2: 29,826,092 (GRCm39)	L57P	probably benign	Het
Glrx3	C	A	7: 137,046,765 (GRCm39)	N52K	probably damaging	Het
Grin3b	A	G	10: 79,812,938 (GRCm39)	*1004W	probably null	Het
Hectd4	T	A	5: 121,401,954 (GRCm39)	F347L	probably benign	Het
Htra1	G	A	7: 130,586,802 (GRCm39)	V462I	probably benign	Het
Itga11	A	G	9: 62,662,581 (GRCm39)	Y518C	probably damaging	Het
Krtap15-1	T	C	16: 88,626,253 (GRCm39)	F88L	probably benign	Het
Ktn1	A	T	14: 47,943,917 (GRCm39)	R866W	probably damaging	Het
Lamb1	G	A	12: 31,338,280 (GRCm39)	R483H	probably damaging	Het
Megf6	C	T	4: 154,349,848 (GRCm39)	R983C	probably damaging	Het
Mybpc3	T	A	2: 90,965,157 (GRCm39)	D1075E	probably benign	Het
Myo7b	A	T	18: 32,097,489 (GRCm39)	N1792K	probably benign	Het
Nabp2	A	T	10: 128,237,556 (GRCm39)		probably benign	Het
Neil3	A	G	8: 54,091,928 (GRCm39)	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,230,897 (GRCm39)	I491F	possibly damaging	Het
Obscn	A	G	11: 58,952,291 (GRCm39)	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,088,318 (GRCm39)	S139P	probably damaging	Het
Oog2	T	C	4: 143,921,669 (GRCm39)	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,666,080 (GRCm39)	D70G	probably benign	Het
Or10j2	A	T	1: 173,098,546 (GRCm39)	D268V	probably damaging	Het
Or1ab2	A	G	8: 72,863,425 (GRCm39)	N5S	probably damaging	Het
Or56a42-ps1	C	A	7: 104,777,435 (GRCm39)	V70L	probably benign	Het
Or6c210	A	G	10: 129,496,589 (GRCm39)	I305V	probably benign	Het
Padi3	T	C	4: 140,522,937 (GRCm39)	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,506,246 (GRCm39)	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,911,971 (GRCm39)		probably benign	Het
Pigr	A	C	1: 130,776,195 (GRCm39)	T577P	possibly damaging	Het
Pirb	G	A	7: 3,722,361 (GRCm39)	Q161*	probably null	Het
Pnlip	A	G	19: 58,664,672 (GRCm39)	E204G	possibly damaging	Het
Pop7	G	T	5: 137,500,161 (GRCm39)	D57E	probably benign	Het
Ppfia4	A	T	1: 134,260,239 (GRCm39)	I8N	probably damaging	Het
Pprc1	A	G	19: 46,052,758 (GRCm39)	T759A	probably damaging	Het
Prom1	T	C	5: 44,202,894 (GRCm39)	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,842,863 (GRCm39)		probably null	Het
Prop1	A	T	11: 50,842,872 (GRCm39)	L105H	probably damaging	Het
Pwp2	A	T	10: 78,018,328 (GRCm39)	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,689,509 (GRCm39)	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,207,002 (GRCm39)		probably benign	Het
Rxfp1	A	G	3: 79,552,109 (GRCm39)	S731P	probably benign	Het
Scfd1	T	C	12: 51,437,195 (GRCm39)	V137A	probably benign	Het
Slc6a15	G	A	10: 103,240,275 (GRCm39)	D333N	probably damaging	Het
Sqor	T	C	2: 122,627,101 (GRCm39)	V74A	possibly damaging	Het
Stil	T	A	4: 114,881,422 (GRCm39)	Y655*	probably null	Het
Syt14	A	T	1: 192,581,167 (GRCm39)	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,825,661 (GRCm39)		probably null	Het
Tspyl5	A	T	15: 33,686,995 (GRCm39)	S317T	probably damaging	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,861,631 (GRCm39)	T620A	probably damaging	Het
Usp32	G	A	11: 84,946,598 (GRCm39)	Q269*	probably null	Het
Vsig10	T	A	5: 117,476,308 (GRCm39)	V254E	probably benign	Het
Wdr6	C	T	9: 108,450,187 (GRCm39)	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,238,714 (GRCm39)	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,403,221 (GRCm39)	D559G	probably benign	Het
Zfp934	T	C	13: 62,665,768 (GRCm39)	H291R	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
R1809:Ablim2	UTSW	5	36,000,614 (GRCm39)	intron	probably benign
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
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'- GCCCCATTCCAGGTCTACTTAG -3'
(R):5'- TGCTAGGAGCCAAAAGATAGCC -3'

Sequencing Primer
(F):5'- CCAGGTCTACTTAGCCATTTGG -3'
(R):5'- CCAGGGCTGGGGATAGATGTG -3'

Posted On

2016-04-15