Mutagenetix > Incidental Mutations

Incidental Mutation 'R5528:Ablim2'

433521

Institutional Source

Beutler Lab

Gene Symbol

Ablim2

Ensembl Gene

ENSMUSG00000029095

Gene Name

actin-binding LIM protein 2

Synonyms

MMRRC Submission

043086-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R5528 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

35757880-35884973 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 35856166 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 148 (Q148*)

Gene Model

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

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: 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

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

noncoding transcript
Transcript: ENSMUST00000130209

Predicted Effect

probably null
Transcript: ENSMUST00000151322
AA Change: Q148*

SMART Domains

Protein: ENSMUSP00000114616
Gene: ENSMUSG00000029095
AA Change: Q148*

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

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

noncoding transcript
Transcript: ENSMUST00000153025

Predicted Effect

probably benign
Transcript: ENSMUST00000153529

SMART Domains

Protein: ENSMUSP00000118019
Gene: ENSMUSG00000029095

Domain	Start	End	E-Value	Type
Pfam:AbLIM_anchor	43	73	1.7e-17	PFAM
VHP	74	109	2.34e-19	SMART

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.4%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,066,499	L483P	probably benign	Het
1700025F22Rik	T	C	19: 11,141,635	S37G	possibly damaging	Het
3110043O21Rik	T	C	4: 35,213,556	D198G	probably benign	Het
4930519G04Rik	T	G	5: 114,874,354		probably null	Het
Ap3s2	A	T	7: 79,880,486	*194R	probably null	Het
Arpp21	C	T	9: 112,149,353	A235T	probably benign	Het
Ccdc33	T	C	9: 58,028,795	D939G	probably benign	Het
Celsr2	A	T	3: 108,413,294	I734N	probably damaging	Het
Clcn1	C	A	6: 42,300,341	N455K	probably benign	Het
Cpne8	C	T	15: 90,619,690	V91I	possibly damaging	Het
Ddx1	A	G	12: 13,229,294	V448A	probably damaging	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eif2a	G	T	3: 58,548,512	D311Y	probably damaging	Het
Eif2ak4	G	A	2: 118,427,938	E512K	probably damaging	Het
Esp15	A	T	17: 39,644,749	Y69F	probably benign	Het
Fam102a	G	A	2: 32,566,327	A334T	probably damaging	Het
Gm5689	A	G	18: 42,173,662		probably null	Het
Gucy1a1	A	T	3: 82,109,073	Y203N	probably damaging	Het
Hook3	T	C	8: 26,072,293	Q248R	probably damaging	Het
Ifit2	T	A	19: 34,573,537	V159E	possibly damaging	Het
Il17rd	T	C	14: 27,088,067	V20A	possibly damaging	Het
Kcnq3	T	A	15: 66,025,178	D291V	probably damaging	Het
Klf11	A	T	12: 24,654,930	M111L	probably benign	Het
Lama5	T	A	2: 180,194,563	H1165L	probably benign	Het
Lmo7	A	G	14: 101,902,086	N702S	probably damaging	Het
Lta4h	T	C	10: 93,471,874	V323A	probably damaging	Het
Mkrn3	T	C	7: 62,418,987	E352G	possibly damaging	Het
Mtf2	T	A	5: 108,094,157	L277Q	probably damaging	Het
Myo9b	A	G	8: 71,323,274	N370D	probably benign	Het
Nlrp4e	A	C	7: 23,336,891	K723T	probably benign	Het
Nsun3	A	G	16: 62,735,326	V279A	possibly damaging	Het
Pde6b	A	G	5: 108,423,558	D459G	probably benign	Het
Phgdh	T	C	3: 98,328,339	I121V	probably benign	Het
Pik3r5	T	C	11: 68,495,977	C811R	probably damaging	Het
Spaca6	A	C	17: 17,831,082	I27L	probably benign	Het
Trmt1l	G	A	1: 151,454,995	V588I	probably benign	Het
Tshr	A	G	12: 91,537,193	N302D	probably damaging	Het
Vmn2r23	A	G	6: 123,713,002	D279G	probably damaging	Het
Wnt3a	T	C	11: 59,275,280	N58S	probably damaging	Het
Zkscan8	A	G	13: 21,520,725	V276A	probably damaging	Het

Other mutations in Ablim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Ablim2	APN	5	35824015	unclassified	probably benign
IGL00945:Ablim2	APN	5	35837020	missense	probably damaging	1.00
IGL02439:Ablim2	APN	5	35857862	missense	possibly damaging	0.89
IGL02664:Ablim2	APN	5	35849516	missense	probably damaging	1.00
IGL02897:Ablim2	APN	5	35833126	missense	probably damaging	1.00
IGL03034:Ablim2	APN	5	35828165	missense	probably benign	0.00
IGL03096:Ablim2	APN	5	35883399	nonsense	probably null
IGL03384:Ablim2	APN	5	35874872	missense	probably damaging	1.00
R0128:Ablim2	UTSW	5	35809176	splice site	probably benign
R0130:Ablim2	UTSW	5	35809176	splice site	probably benign
R0212:Ablim2	UTSW	5	35848910	splice site	probably null
R0344:Ablim2	UTSW	5	35836933	splice site	probably benign
R0675:Ablim2	UTSW	5	35866780	splice site	probably benign
R0788:Ablim2	UTSW	5	35857901	missense	probably benign	0.01
R1148:Ablim2	UTSW	5	35809261	missense	probably damaging	1.00
R1148:Ablim2	UTSW	5	35809261	missense	probably damaging	1.00
R1493:Ablim2	UTSW	5	35809261	missense	probably damaging	1.00
R1809:Ablim2	UTSW	5	35843270	intron	probably benign
R2070:Ablim2	UTSW	5	35798513	missense	probably damaging	1.00
R2163:Ablim2	UTSW	5	35802353	splice site	probably benign
R3962:Ablim2	UTSW	5	35812175	missense	probably damaging	1.00
R4852:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R4853:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R4854:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R4855:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R4866:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R4867:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R4906:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R4908:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R4909:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R4927:Ablim2	UTSW	5	35802422	missense	possibly damaging	0.85
R5210:Ablim2	UTSW	5	35837072	missense	probably benign	0.44
R5225:Ablim2	UTSW	5	35866771	splice site	probably null
R5439:Ablim2	UTSW	5	35857826	missense	probably damaging	0.98
R5629:Ablim2	UTSW	5	35857163	missense	probably benign	0.01
R5653:Ablim2	UTSW	5	35883412	missense	probably damaging	1.00
R5921:Ablim2	UTSW	5	35812211	missense	probably damaging	1.00
R6059:Ablim2	UTSW	5	35857164	missense	probably benign	0.37
R6241:Ablim2	UTSW	5	35874897	missense	probably damaging	1.00
R7492:Ablim2	UTSW	5	35841329	missense	probably benign	0.14
R7562:Ablim2	UTSW	5	35873219	missense	probably benign	0.00
R7960:Ablim2	UTSW	5	35857149	missense	probably benign	0.01
R8414:Ablim2	UTSW	5	35874891	missense	possibly damaging	0.95
Z1176:Ablim2	UTSW	5	35848858	missense	possibly damaging	0.84
Z1177:Ablim2	UTSW	5	35824043	missense	probably damaging	0.98
Z1177:Ablim2	UTSW	5	35841293	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAGAGGGTTTATTTCCAACTG -3'
(R):5'- TCAGGACTCAGACAGTGCAG -3'

Sequencing Primer
(F):5'- CAGAGGGTTTATTTCCAACTGAAAAC -3'
(R):5'- CTCAGACAGTGCAGGGAGAC -3'

Posted On

2016-10-06