Mutagenetix > Incidental Mutation

Incidental Mutation 'R4867:Ablim2'

376220

Institutional Source

Beutler Lab

Gene Symbol

Ablim2

Ensembl Gene

ENSMUSG00000029095

Gene Name

actin-binding LIM protein 2

Synonyms

MMRRC Submission

042477-MU

Accession Numbers

Essential gene?

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

Stock #

R4867 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,099 (GRCm39)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,314,742 (GRCm39)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,839,375 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,093,205 (GRCm39)	V1023F	probably benign	Het
Acsbg2	A	G	17: 57,169,914 (GRCm39)	I151T	possibly damaging	Het
Arid1a	G	A	4: 133,448,168 (GRCm39)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,759,252 (GRCm39)	D344G	probably damaging	Het
Ccdc40	T	C	11: 119,122,614 (GRCm39)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,474,055 (GRCm39)	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,702,213 (GRCm39)		probably null	Het
Cog4	T	C	8: 111,593,242 (GRCm39)	V451A	probably damaging	Het
Crb1	A	T	1: 139,170,752 (GRCm39)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,855,164 (GRCm39)	D152G	probably damaging	Het
Cse1l	T	A	2: 166,768,323 (GRCm39)	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,303,815 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,947,235 (GRCm39)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,769,724 (GRCm39)	F445L	possibly damaging	Het
Dlc1	T	C	8: 37,051,799 (GRCm39)	H644R	probably benign	Het
Ecm2	A	T	13: 49,684,821 (GRCm39)	I643F	probably damaging	Het
Eogt	A	T	6: 97,097,108 (GRCm39)		probably benign	Het
Fbxo41	A	C	6: 85,452,176 (GRCm39)	S777A	probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Flt3	A	T	5: 147,271,250 (GRCm39)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,414,465 (GRCm39)		probably null	Het
Frem3	T	C	8: 81,339,912 (GRCm39)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,654,356 (GRCm39)	D344E	probably benign	Het
Gtf3a	C	T	5: 146,888,723 (GRCm39)	Q145*	probably null	Het
Il36rn	A	T	2: 24,170,847 (GRCm39)	N48I	probably damaging	Het
Iqca1	A	G	1: 90,017,226 (GRCm39)	L403S	probably benign	Het
Jrk	C	T	15: 74,579,069 (GRCm39)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Krt12	T	C	11: 99,307,789 (GRCm39)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,670,770 (GRCm39)	S127R	unknown	Het
Lrrc7	T	G	3: 157,866,642 (GRCm39)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,365,993 (GRCm39)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,495,320 (GRCm39)		probably null	Het
Mki67	T	C	7: 135,301,585 (GRCm39)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,946 (GRCm39)	I291M	possibly damaging	Het
Or13g1	T	C	7: 85,955,491 (GRCm39)	T277A	probably benign	Het
Or1j12	A	C	2: 36,343,211 (GRCm39)	M205L	probably benign	Het
Or2r2	A	G	6: 42,464,031 (GRCm39)	V32A	probably benign	Het
Or6e1	T	A	14: 54,520,086 (GRCm39)	T89S	probably benign	Het
Or7g17	A	T	9: 18,768,862 (GRCm39)	I305F	probably benign	Het
Parp14	T	A	16: 35,677,697 (GRCm39)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,709,113 (GRCm39)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,620,726 (GRCm39)	S849P	probably benign	Het
Pds5a	T	C	5: 65,801,463 (GRCm39)	K595E	probably damaging	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Prr5	G	T	15: 84,624,967 (GRCm39)	L46F	probably benign	Het
Ptgdr	G	T	14: 45,096,253 (GRCm39)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm39)	S555P	probably damaging	Het
Rhog	T	G	7: 101,889,357 (GRCm39)	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,415,975 (GRCm39)	T209A	probably damaging	Het
Rtkn2	T	C	10: 67,837,757 (GRCm39)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,379,737 (GRCm39)	C182*	probably null	Het
Sema3a	A	G	5: 13,501,208 (GRCm39)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,436 (GRCm39)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,040,301 (GRCm39)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,882,608 (GRCm39)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Ston1	C	T	17: 88,943,122 (GRCm39)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,357,976 (GRCm39)	S3P	probably benign	Het
Tango6	T	A	8: 107,545,158 (GRCm39)	V1007E	probably damaging	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tas2r124	A	G	6: 132,732,156 (GRCm39)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,688,856 (GRCm39)	R2244W	probably damaging	Het
Thoc2l	T	C	5: 104,668,868 (GRCm39)	I1130T	possibly damaging	Het
Tlk1	A	T	2: 70,551,915 (GRCm39)	Y585*	probably null	Het
Tmem221	C	T	8: 72,007,784 (GRCm39)	E214K	probably benign	Het
Tmem38a	T	C	8: 73,335,077 (GRCm39)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,755,705 (GRCm39)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,255,374 (GRCm39)	A1268T	probably damaging	Het
Usp25	T	A	16: 76,847,355 (GRCm39)	D154E	probably damaging	Het
Usp34	T	C	11: 23,401,999 (GRCm39)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,083,939 (GRCm39)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,933,421 (GRCm39)	C32W	probably damaging	Het
Zfp931	T	A	2: 177,709,855 (GRCm39)	H177L	probably damaging	Het
Znrf1	T	C	8: 112,264,198 (GRCm39)		probably null	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
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'- GCCCCATTCCAGGTCTACTTAG -3'
(R):5'- TGCTAGGAGCCAAAAGATAGCC -3'

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

Posted On

2016-03-17