Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03308:Limch1'

416466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Limch1

Ensembl Gene

ENSMUSG00000037736

Gene Name

LIM and calponin homology domains 1

Synonyms

3732412D22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL03308

Quality Score

Status

Chromosome

Chromosomal Location

66745827-67057158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67002558 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 443 (T443M)

Ref Sequence

ENSEMBL: ENSMUSP00000043163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038188] [ENSMUST00000101164] [ENSMUST00000117601] [ENSMUST00000118242] [ENSMUST00000127184] [ENSMUST00000132991]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038188
AA Change: T443M

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043163
Gene: ENSMUSG00000037736
AA Change: T443M

Domain	Start	End	E-Value	Type
low complexity region	41	57	N/A	INTRINSIC
low complexity region	67	80	N/A	INTRINSIC
low complexity region	129	140	N/A	INTRINSIC
coiled coil region	192	241	N/A	INTRINSIC
low complexity region	411	430	N/A	INTRINSIC
coiled coil region	615	672	N/A	INTRINSIC
low complexity region	679	691	N/A	INTRINSIC
LIM	830	888	5.08e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101164
AA Change: T599M

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
AA Change: T599M

Domain	Start	End	E-Value	Type
CH	23	124	2.09e-13	SMART
low complexity region	197	213	N/A	INTRINSIC
low complexity region	223	236	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC
coiled coil region	348	397	N/A	INTRINSIC
low complexity region	567	586	N/A	INTRINSIC
coiled coil region	771	828	N/A	INTRINSIC
low complexity region	835	847	N/A	INTRINSIC
LIM	986	1044	5.08e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117601
AA Change: T440M

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113544
Gene: ENSMUSG00000037736
AA Change: T440M

Domain	Start	End	E-Value	Type
CH	23	124	1e-15	SMART
low complexity region	197	213	N/A	INTRINSIC
low complexity region	223	236	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC
coiled coil region	348	397	N/A	INTRINSIC
low complexity region	567	586	N/A	INTRINSIC
coiled coil region	704	752	N/A	INTRINSIC
low complexity region	759	771	N/A	INTRINSIC
LIM	910	968	2.4e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118242
AA Change: T587M

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
AA Change: T587M

Domain	Start	End	E-Value	Type
CH	23	124	2.09e-13	SMART
low complexity region	197	213	N/A	INTRINSIC
low complexity region	223	236	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC
coiled coil region	336	385	N/A	INTRINSIC
low complexity region	555	574	N/A	INTRINSIC
coiled coil region	782	839	N/A	INTRINSIC
low complexity region	846	858	N/A	INTRINSIC
LIM	997	1055	5.08e-7	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000119854
AA Change: T315M

SMART Domains

Protein: ENSMUSP00000112651
Gene: ENSMUSG00000037736
AA Change: T315M

Domain	Start	End	E-Value	Type
CH	23	124	2.09e-13	SMART
low complexity region	197	213	N/A	INTRINSIC
low complexity region	223	236	N/A	INTRINSIC
Pfam:DUF4757	250	418	5.2e-66	PFAM
low complexity region	567	586	N/A	INTRINSIC
coiled coil region	771	828	N/A	INTRINSIC
low complexity region	835	847	N/A	INTRINSIC
low complexity region	989	1003	N/A	INTRINSIC
LIM	1012	1070	5.08e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127184

SMART Domains

Protein: ENSMUSP00000114681
Gene: ENSMUSG00000037736

Domain	Start	End	E-Value	Type
low complexity region	41	57	N/A	INTRINSIC
low complexity region	67	80	N/A	INTRINSIC
low complexity region	129	140	N/A	INTRINSIC
coiled coil region	180	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132991

SMART Domains

Protein: ENSMUSP00000123337
Gene: ENSMUSG00000037736

Domain	Start	End	E-Value	Type
low complexity region	50	66	N/A	INTRINSIC
low complexity region	76	89	N/A	INTRINSIC
Pfam:DUF4757	103	269	2.6e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201322

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,456,251	I216V	probably damaging	Het
Abcc1	A	G	16: 14,470,611	I1367V	possibly damaging	Het
Ap1g2	T	A	14: 55,104,876	I175F	probably benign	Het
Atad2	A	G	15: 58,102,523	V671A	probably benign	Het
Ccdc134	A	G	15: 82,131,520	D67G	probably damaging	Het
Cdk17	G	A	10: 93,221,644		probably null	Het
Col3a1	A	G	1: 45,330,617		probably benign	Het
Col5a3	A	G	9: 20,808,379	L228P	unknown	Het
Eef1a2	A	G	2: 181,148,836		probably benign	Het
Fars2	T	G	13: 36,204,687	I53R	possibly damaging	Het
Frmd4a	G	T	2: 4,498,026	A98S	possibly damaging	Het
Gprin1	T	A	13: 54,740,144	M106L	probably benign	Het
Hspb8	T	C	5: 116,409,342	T194A	possibly damaging	Het
Ift27	A	G	15: 78,166,015	S65P	probably damaging	Het
Inpp5d	A	C	1: 87,703,197	Y430S	probably damaging	Het
Kat6b	T	C	14: 21,624,834	S356P	probably damaging	Het
Mcf2l	C	T	8: 13,009,512	R708C	probably damaging	Het
Mlf1	T	C	3: 67,397,807	W214R	probably damaging	Het
Naga	A	T	15: 82,335,887	L153Q	probably damaging	Het
Nbas	A	G	12: 13,324,348	Q559R	possibly damaging	Het
Olfr324	T	C	11: 58,597,699	F101S	probably damaging	Het
Olfr720	T	A	14: 14,175,161	H307L	probably benign	Het
Prex2	A	G	1: 11,185,175	D1148G	possibly damaging	Het
Prss23	A	C	7: 89,509,730	L377R	probably benign	Het
Ptprc	G	T	1: 138,126,320	T27K	possibly damaging	Het
Rnf213	A	G	11: 119,474,172	T4553A	probably benign	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Skint3	T	C	4: 112,254,067	F130L	probably damaging	Het
Slc8a1	A	G	17: 81,442,195		probably benign	Het
Stau1	T	C	2: 166,950,320	N433D	probably damaging	Het
Tapbpl	G	A	6: 125,228,179	A268V	possibly damaging	Het
Tmem131l	T	C	3: 83,940,902	I314V	probably benign	Het
Tmem44	A	G	16: 30,543,748	W151R	probably damaging	Het
Tnnc1	T	C	14: 31,209,841		probably benign	Het
Traf5	T	G	1: 191,997,500	N530T	probably damaging	Het
Ttn	A	G	2: 76,746,563	I24662T	probably damaging	Het
Vmn1r49	A	T	6: 90,072,359	H220Q	possibly damaging	Het
Vmn2r106	A	T	17: 20,278,523	C375*	probably null	Het
Vps26b	T	C	9: 27,029,500	Y41C	probably damaging	Het
Wdr64	T	C	1: 175,766,996		probably benign	Het
Xylt1	C	T	7: 117,637,751	Q576*	probably null	Het
Zfp106	T	C	2: 120,524,024	D1422G	probably benign	Het

Other mutations in Limch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Limch1	APN	5	66953679	missense	probably damaging	0.99
IGL00644:Limch1	APN	5	67016552	missense	probably benign	0.01
IGL00705:Limch1	APN	5	66993153	nonsense	probably null
IGL01154:Limch1	APN	5	66745958	nonsense	probably null	0.00
IGL01865:Limch1	APN	5	66974580	nonsense	probably null
IGL02529:Limch1	APN	5	67002613	missense	possibly damaging	0.89
IGL03171:Limch1	APN	5	67034194	missense	possibly damaging	0.80
IGL03396:Limch1	APN	5	66953673	missense	probably damaging	1.00
R0067:Limch1	UTSW	5	66974622	missense	probably damaging	0.99
R0067:Limch1	UTSW	5	66974622	missense	probably damaging	0.99
R0114:Limch1	UTSW	5	67036084	intron	probably benign
R0129:Limch1	UTSW	5	66959590	missense	probably damaging	0.96
R0193:Limch1	UTSW	5	67027539	missense	probably damaging	1.00
R0194:Limch1	UTSW	5	66999273	missense	probably benign	0.05
R0367:Limch1	UTSW	5	66857954	critical splice donor site	probably null
R0558:Limch1	UTSW	5	66969155	missense	probably damaging	1.00
R0927:Limch1	UTSW	5	66997233	missense	probably damaging	1.00
R1190:Limch1	UTSW	5	66969197	missense	probably damaging	1.00
R1316:Limch1	UTSW	5	66999243	missense	probably damaging	1.00
R1469:Limch1	UTSW	5	66881980	splice site	probably benign
R1647:Limch1	UTSW	5	66999256	missense	probably damaging	1.00
R1648:Limch1	UTSW	5	66999256	missense	probably damaging	1.00
R1944:Limch1	UTSW	5	66999099	missense	probably damaging	1.00
R2103:Limch1	UTSW	5	66998729	missense	probably benign	0.05
R2126:Limch1	UTSW	5	67029760	missense	probably damaging	1.00
R2248:Limch1	UTSW	5	67044399	missense	probably damaging	1.00
R2415:Limch1	UTSW	5	66974634	missense	probably damaging	1.00
R3762:Limch1	UTSW	5	67028840	missense	probably damaging	1.00
R3797:Limch1	UTSW	5	66969079	missense	probably damaging	1.00
R4659:Limch1	UTSW	5	67027557	missense	probably damaging	1.00
R4773:Limch1	UTSW	5	67027507	missense	probably damaging	0.99
R4876:Limch1	UTSW	5	66881927	missense	possibly damaging	0.64
R5062:Limch1	UTSW	5	66969235	missense	probably damaging	1.00
R5191:Limch1	UTSW	5	67027561	missense	probably damaging	1.00
R5202:Limch1	UTSW	5	66993173	missense	probably damaging	1.00
R5335:Limch1	UTSW	5	66881957	missense	probably damaging	1.00
R5436:Limch1	UTSW	5	66974566	missense	possibly damaging	0.72
R5994:Limch1	UTSW	5	66974622	missense	probably damaging	1.00
R6049:Limch1	UTSW	5	67030860	missense	probably benign	0.32
R6228:Limch1	UTSW	5	67016502	missense	probably damaging	1.00
R6547:Limch1	UTSW	5	67028774	missense	probably damaging	1.00
R6600:Limch1	UTSW	5	66745938	missense	probably benign
R6888:Limch1	UTSW	5	67021926	missense	probably benign	0.21
R7111:Limch1	UTSW	5	67025176	intron	probably null
R7132:Limch1	UTSW	5	66953685	missense	probably damaging	1.00
R7144:Limch1	UTSW	5	67017658	missense	probably benign	0.10
R7302:Limch1	UTSW	5	66959599	missense	probably benign	0.02
R7341:Limch1	UTSW	5	67034202	missense	probably benign	0.06
R7491:Limch1	UTSW	5	67054237	missense	probably damaging	0.99
X0022:Limch1	UTSW	5	67021952	missense	probably benign	0.00
X0027:Limch1	UTSW	5	67002620	missense	probably damaging	1.00

Posted On

2016-08-02