Mutagenetix > Incidental Mutation

Incidental Mutation 'R4908:Ablim2'

379177

Institutional Source

Beutler Lab

Gene Symbol

Ablim2

Ensembl Gene

ENSMUSG00000029095

Gene Name

actin-binding LIM protein 2

Synonyms

MMRRC Submission

042510-MU

Accession Numbers

Essential gene?

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

Stock #

R4908 (G1)

Quality Score

214

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,778,008 (GRCm39)	I79L	probably benign	Het
Acaa1a	G	A	9: 119,177,772 (GRCm39)	S218N	probably benign	Het
Acsm5	A	T	7: 119,137,314 (GRCm39)	I377F	probably damaging	Het
Ahnak2	T	C	12: 112,741,706 (GRCm39)	T789A	probably benign	Het
Ak9	A	T	10: 41,296,678 (GRCm39)	T1475S	unknown	Het
AU040320	A	T	4: 126,747,081 (GRCm39)	N1028Y	probably damaging	Het
Bahcc1	T	A	11: 120,178,580 (GRCm39)	S2380T	probably benign	Het
Cadps	A	G	14: 12,536,386 (GRCm38)	Y525H	probably damaging	Het
Casp8ap2	A	G	4: 32,639,905 (GRCm39)	T320A	possibly damaging	Het
Ccdc138	A	G	10: 58,380,817 (GRCm39)	N483D	possibly damaging	Het
Ccdc39	G	A	3: 33,893,242 (GRCm39)		probably null	Het
Cd300c2	T	C	11: 114,887,772 (GRCm39)	N210S	probably damaging	Het
Cd84	A	G	1: 171,700,432 (GRCm39)	D183G	probably damaging	Het
Cep95	C	T	11: 106,702,172 (GRCm39)	P390S	probably damaging	Het
Chd9	A	T	8: 91,741,877 (GRCm39)	H1622L	possibly damaging	Het
Cilp	C	A	9: 65,185,302 (GRCm39)	Q466K	probably benign	Het
Cinp	T	A	12: 110,850,487 (GRCm39)	T5S	probably damaging	Het
Clec4a2	T	C	6: 123,119,462 (GRCm39)	L238S	probably damaging	Het
Cntrob	T	C	11: 69,211,732 (GRCm39)	Y164C	probably damaging	Het
Col6a3	A	G	1: 90,735,246 (GRCm39)	L1408P	probably damaging	Het
Cul3	G	A	1: 80,258,632 (GRCm39)	S468L	possibly damaging	Het
Dnah11	T	A	12: 118,090,618 (GRCm39)	D1081V	probably benign	Het
Dnah2	C	A	11: 69,411,973 (GRCm39)	V263L	probably benign	Het
Efna3	C	G	3: 89,222,805 (GRCm39)	R185P	probably damaging	Het
F5	A	T	1: 164,039,389 (GRCm39)	I2000F	probably damaging	Het
Fancm	G	A	12: 65,141,645 (GRCm39)	G422E	probably benign	Het
Gcnt2	A	T	13: 41,014,210 (GRCm39)	D127V	probably damaging	Het
Gm21798	G	T	15: 64,689,618 (GRCm39)		probably benign	Het
Gramd1a	A	C	7: 30,838,292 (GRCm39)	S320R	probably benign	Het
Grn	T	C	11: 102,327,344 (GRCm39)		probably benign	Het
Helq	A	T	5: 100,910,507 (GRCm39)		probably null	Het
Herc2	A	G	7: 55,827,660 (GRCm39)	I2914V	probably benign	Het
Hnrnph1	T	C	11: 50,269,237 (GRCm39)	V27A	probably damaging	Het
Hs1bp3	G	T	12: 8,374,007 (GRCm39)	G182C	probably damaging	Het
Idnk	C	T	13: 58,311,267 (GRCm39)	P78L	probably benign	Het
Il10ra	T	C	9: 45,166,919 (GRCm39)	D544G	probably benign	Het
Inpp5e	T	C	2: 26,290,918 (GRCm39)	D383G	probably damaging	Het
Jak1	A	T	4: 101,036,911 (GRCm39)	V243D	probably damaging	Het
Kcnma1	A	T	14: 23,359,220 (GRCm39)	S1036T	probably damaging	Het
Kif26a	G	A	12: 112,123,776 (GRCm39)	C127Y	probably damaging	Het
Kif2c	T	C	4: 117,023,608 (GRCm39)	E368G	probably damaging	Het
Lasp1	T	A	11: 97,724,530 (GRCm39)		probably null	Het
Lcor	T	A	19: 41,572,601 (GRCm39)	V452D	probably benign	Het
Lrrtm1	C	G	6: 77,221,661 (GRCm39)	H373D	probably benign	Het
Matr3	T	A	18: 35,705,754 (GRCm39)	D226E	probably damaging	Het
Mmp17	G	A	5: 129,682,730 (GRCm39)	W456*	probably null	Het
Mpp4	T	C	1: 59,164,748 (GRCm39)	E463G	probably damaging	Het
Myh6	A	C	14: 55,194,419 (GRCm39)	F737V	probably damaging	Het
Nars2	T	A	7: 96,672,948 (GRCm39)	D271E	probably benign	Het
Nav2	A	G	7: 49,254,258 (GRCm39)	E2352G	probably damaging	Het
Nckap1	A	G	2: 80,353,718 (GRCm39)		probably null	Het
Nckap5	A	T	1: 125,955,324 (GRCm39)	S477R	probably damaging	Het
Nek11	T	G	9: 105,175,488 (GRCm39)	I319L	probably benign	Het
Neto2	A	G	8: 86,396,393 (GRCm39)	I84T	probably damaging	Het
Nlrp9a	A	T	7: 26,250,369 (GRCm39)	I45F	probably damaging	Het
Numa1	G	A	7: 101,662,012 (GRCm39)	R548H	probably damaging	Het
Or10a5	A	C	7: 106,635,364 (GRCm39)	M1L	probably benign	Het
Or14c39	A	C	7: 86,344,395 (GRCm39)	I244L	probably benign	Het
Or2ag1b	A	T	7: 106,288,740 (GRCm39)	L66H	probably damaging	Het
Or4c10	A	T	2: 89,760,923 (GRCm39)	M257L	probably benign	Het
Or4c100	T	A	2: 88,356,254 (GRCm39)	I109N	probably damaging	Het
Or4k36	T	A	2: 111,146,574 (GRCm39)	F250Y	probably benign	Het
Or7g25	A	G	9: 19,160,149 (GRCm39)	V182A	probably benign	Het
Or9m1	A	T	2: 87,733,533 (GRCm39)	N162K	probably damaging	Het
Pcdhb16	T	A	18: 37,612,894 (GRCm39)		probably null	Het
Pdcd10	T	C	3: 75,448,553 (GRCm39)	T4A	probably damaging	Het
Pgc	A	T	17: 48,039,819 (GRCm39)	Y71F	probably damaging	Het
Phlpp1	G	A	1: 106,317,481 (GRCm39)	G1234E	probably damaging	Het
Prr27	T	C	5: 87,990,888 (GRCm39)	F167L	probably benign	Het
Prrc2b	T	A	2: 32,116,330 (GRCm39)	S1421T	possibly damaging	Het
Pxmp2	A	G	5: 110,431,518 (GRCm39)	V75A	probably benign	Het
Pygl	A	T	12: 70,243,807 (GRCm39)	M545K	probably null	Het
Ranbp9	A	G	13: 43,574,733 (GRCm39)	Y412H	possibly damaging	Het
Rcc1	A	G	4: 132,065,064 (GRCm39)	V140A	probably damaging	Het
Reln	A	G	5: 22,184,718 (GRCm39)	V1599A	probably benign	Het
Rhebl1	A	T	15: 98,776,903 (GRCm39)	D122E	probably damaging	Het
Rock2	C	T	12: 17,009,492 (GRCm39)	L676F	probably benign	Het
Scn9a	A	T	2: 66,357,087 (GRCm39)	D1062E	probably benign	Het
Sec63	T	C	10: 42,681,186 (GRCm39)	I390T	probably damaging	Het
Slc10a6	T	C	5: 103,754,493 (GRCm39)	E346G	probably benign	Het
Slc12a3	G	A	8: 95,075,216 (GRCm39)	V737M	possibly damaging	Het
Slc12a8	T	C	16: 33,426,629 (GRCm39)		probably null	Het
Slc25a38	T	A	9: 119,949,354 (GRCm39)	I102N	probably damaging	Het
Spg7	T	A	8: 123,807,394 (GRCm39)	V390E	probably damaging	Het
Tbc1d20	T	C	2: 152,144,228 (GRCm39)	V75A	probably benign	Het
Tesk1	T	A	4: 43,445,555 (GRCm39)	C243*	probably null	Het
Ttk	T	A	9: 83,725,739 (GRCm39)	N220K	possibly damaging	Het
Ttll5	A	G	12: 85,965,948 (GRCm39)	E651G	probably benign	Het
Tubd1	T	C	11: 86,457,879 (GRCm39)	Y426H	probably damaging	Het
Uba6	T	C	5: 86,288,293 (GRCm39)		silent	Het
Ube2ql1	G	A	13: 69,852,289 (GRCm39)	R263W	probably damaging	Het
Vmn2r117	C	T	17: 23,678,812 (GRCm39)	G804D	probably damaging	Het
Vmn2r25	C	T	6: 123,805,406 (GRCm39)	E484K	probably benign	Het
Vmn2r4	T	A	3: 64,296,476 (GRCm39)	I770F	possibly damaging	Het
Vmn2r82	G	A	10: 79,214,589 (GRCm39)	V191M	probably benign	Het
Zbtb45	C	T	7: 12,742,037 (GRCm39)	V74M	probably damaging	Het
Zfp366	T	C	13: 99,370,609 (GRCm39)	V443A	possibly damaging	Het
Zfyve1	A	T	12: 83,598,345 (GRCm39)	C628S	probably damaging	Het
Zfyve26	A	T	12: 79,296,469 (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
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
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

2016-04-15