Mutagenetix > Incidental Mutation

Incidental Mutation 'R4855:Ablim2'

373877

Institutional Source

Beutler Lab

Gene Symbol

Ablim2

Ensembl Gene

ENSMUSG00000029095

Gene Name

actin-binding LIM protein 2

Synonyms

MMRRC Submission

042466-MU

Accession Numbers

Essential gene?

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

Stock #

R4855 (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: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Adad1	G	T	3: 37,139,260 (GRCm39)	L443F	probably damaging	Het
Amph	T	A	13: 19,268,378 (GRCm39)	M70K	probably damaging	Het
Ankra2	T	A	13: 98,409,919 (GRCm39)	L306H	probably damaging	Het
Arc	A	C	15: 74,543,592 (GRCm39)	D210E	probably benign	Het
Arhgap10	A	G	8: 78,159,367 (GRCm39)		probably null	Het
Atp8b5	T	A	4: 43,344,449 (GRCm39)	N445K	probably benign	Het
C1qc	G	T	4: 136,617,746 (GRCm39)	Q117K	probably benign	Het
Cadps	T	A	14: 12,822,449 (GRCm38)	E97V	unknown	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Cdk13	A	T	13: 17,895,868 (GRCm39)	W1014R	probably damaging	Het
Cltb	C	T	13: 54,746,908 (GRCm39)	E23K	probably damaging	Het
Clvs2	A	T	10: 33,498,642 (GRCm39)	I96N	probably damaging	Het
Cwf19l1	A	G	19: 44,103,006 (GRCm39)	V403A	probably damaging	Het
Ddr2	A	T	1: 169,816,066 (GRCm39)	L547Q	possibly damaging	Het
Ebf1	A	T	11: 44,863,735 (GRCm39)	K354*	probably null	Het
Fat4	A	G	3: 38,942,466 (GRCm39)	Q453R	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gata6	A	G	18: 11,054,497 (GRCm39)	E142G	possibly damaging	Het
Gm14221	T	C	2: 160,416,600 (GRCm39)		noncoding transcript	Het
Gm42791	C	A	5: 148,896,247 (GRCm39)		probably benign	Het
Gm6370	G	T	5: 146,430,621 (GRCm39)	V269L	probably benign	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Gpt	A	T	15: 76,583,485 (GRCm39)	E206V	probably damaging	Het
Grm3	G	A	5: 9,620,047 (GRCm39)	A399V	probably damaging	Het
Helq	A	T	5: 100,931,025 (GRCm39)	V575E	possibly damaging	Het
Herc4	A	G	10: 63,151,437 (GRCm39)		probably null	Het
Ifi207	A	T	1: 173,557,381 (GRCm39)	N452K	probably damaging	Het
Ikbke	A	G	1: 131,184,848 (GRCm39)		probably null	Het
Kbtbd2	A	G	6: 56,756,687 (GRCm39)	F350L	probably benign	Het
Kmt2c	A	G	5: 25,519,555 (GRCm39)	V2185A	probably benign	Het
Lgi2	T	C	5: 52,695,849 (GRCm39)	Q362R	probably damaging	Het
Lrit1	G	A	14: 36,783,773 (GRCm39)	G367E	possibly damaging	Het
Lrp1	G	A	10: 127,446,311 (GRCm39)	H78Y	probably benign	Het
Matk	A	G	10: 81,098,720 (GRCm39)		probably benign	Het
Med21	G	A	6: 146,549,690 (GRCm39)	G24S	probably damaging	Het
Met	G	T	6: 17,558,796 (GRCm39)	L1141F	probably damaging	Het
Mroh3	A	T	1: 136,128,677 (GRCm39)		probably null	Het
Mrpl15	T	C	1: 4,844,683 (GRCm39)	I203V	probably benign	Het
Naip1	T	C	13: 100,559,728 (GRCm39)		probably null	Het
Ndufa9	A	C	6: 126,804,505 (GRCm39)	Y298*	probably null	Het
Neb	T	C	2: 52,188,906 (GRCm39)	E808G	probably damaging	Het
Nol4l	C	T	2: 153,253,726 (GRCm39)	G616S	probably benign	Het
Oprm1	T	A	10: 6,788,468 (GRCm39)	C408S	probably benign	Het
Or2ag18	T	C	7: 106,405,463 (GRCm39)	M69V	probably benign	Het
Or4f14	A	G	2: 111,742,444 (GRCm39)	V277A	probably benign	Het
Or4k42	T	G	2: 111,320,293 (GRCm39)	D70A	probably damaging	Het
Or52e7	T	A	7: 104,684,858 (GRCm39)	I151N	probably damaging	Het
Or5ak20	T	C	2: 85,183,793 (GRCm39)	N159S	possibly damaging	Het
Paqr3	A	G	5: 97,256,053 (GRCm39)	I107T	possibly damaging	Het
Pex5l	G	A	3: 33,196,989 (GRCm39)		probably benign	Het
Phf8-ps	C	T	17: 33,285,713 (GRCm39)	S363N	probably benign	Het
Pik3ap1	T	C	19: 41,316,284 (GRCm39)	D326G	probably benign	Het
Plaa	G	T	4: 94,474,645 (GRCm39)	D252E	probably damaging	Het
Plxna2	G	A	1: 194,480,040 (GRCm39)	V1404I	probably benign	Het
Ppargc1a	G	A	5: 51,631,564 (GRCm39)	A355V	possibly damaging	Het
Primpol	A	G	8: 47,039,726 (GRCm39)	S350P	probably benign	Het
Prlr	T	C	15: 10,328,883 (GRCm39)	S453P	probably benign	Het
Psmd5	T	C	2: 34,742,564 (GRCm39)		probably benign	Het
Robo2	A	T	16: 73,768,079 (GRCm39)	V571E	probably damaging	Het
Sbspon	A	T	1: 15,929,264 (GRCm39)	S176T	possibly damaging	Het
Scyl2	G	A	10: 89,476,325 (GRCm39)		probably benign	Het
Sema3e	T	A	5: 14,280,144 (GRCm39)	V341E	probably damaging	Het
Serpinb3b	A	T	1: 107,082,270 (GRCm39)	F331L	possibly damaging	Het
Setd2	A	G	9: 110,401,022 (GRCm39)	H1736R	probably benign	Het
Sidt2	A	T	9: 45,863,327 (GRCm39)	D180E	probably benign	Het
Skint9	A	T	4: 112,248,208 (GRCm39)	Y179N	probably benign	Het
Slc27a5	T	C	7: 12,722,560 (GRCm39)	N638S	probably benign	Het
Slc6a4	T	A	11: 76,904,135 (GRCm39)	W197R	probably damaging	Het
Spag17	A	T	3: 99,970,649 (GRCm39)	M1278L	probably benign	Het
Sptbn1	T	A	11: 30,092,353 (GRCm39)	I471F	probably damaging	Het
Tasor2	A	T	13: 3,616,680 (GRCm39)		probably null	Het
Teddm1a	A	G	1: 153,768,382 (GRCm39)	Q282R	probably benign	Het
Tex35	A	G	1: 156,927,295 (GRCm39)	L160P	probably damaging	Het
Tfap2c	T	C	2: 172,393,438 (GRCm39)	Y118H	probably damaging	Het
Tpp1	T	C	7: 105,395,930 (GRCm39)	Q533R	probably benign	Het
Ttc13	C	T	8: 125,401,174 (GRCm39)	D730N	probably damaging	Het
Ufc1	A	G	1: 171,122,375 (GRCm39)		probably benign	Het
Vcpip1	A	G	1: 9,817,589 (GRCm39)	W265R	probably damaging	Het
Wdr11	C	G	7: 129,202,158 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,341,408 (GRCm39)	I1216M	possibly damaging	Het
Zswim2	A	G	2: 83,747,187 (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
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'- GCCCCATTCCAGGTCTACTTAG -3'
(R):5'- TGCTAGGAGCCAAAAGATAGCC -3'

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

Posted On

2016-03-01