Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01154:Limch1'

51217

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: 0.152) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

66745827-67057158 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 66745958 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 17 (E17*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101164] [ENSMUST00000118242] [ENSMUST00000130228]

AlphaFold

Q3UH68

Predicted Effect

probably null
Transcript: ENSMUST00000101164
AA Change: E17*

SMART Domains

Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
AA Change: E17*

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

probably null
Transcript: ENSMUST00000118242
AA Change: E17*

SMART Domains

Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
AA Change: E17*

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

probably null
Transcript: ENSMUST00000119854
AA Change: E17*

SMART Domains

Protein: ENSMUSP00000112651
Gene: ENSMUSG00000037736
AA Change: E17*

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 null
Transcript: ENSMUST00000130228
AA Change: E17*

SMART Domains

Protein: ENSMUSP00000116126
Gene: ENSMUSG00000037736
AA Change: E17*

Domain	Start	End	E-Value	Type
Pfam:CH	25	77	2.2e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202830

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	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
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
IGL03308:Limch1	APN	5	67002558	missense	possibly damaging	0.92
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	splice site	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
R8079:Limch1	UTSW	5	67046753	missense	possibly damaging	0.73
R8229:Limch1	UTSW	5	67028795	missense	probably damaging	1.00
R8348:Limch1	UTSW	5	67002482	missense	probably damaging	0.98
R8395:Limch1	UTSW	5	66969051	missense	probably damaging	0.96
R8416:Limch1	UTSW	5	66999306	missense	probably benign
R8448:Limch1	UTSW	5	67002482	missense	probably damaging	0.98
R8477:Limch1	UTSW	5	66974565	missense	probably benign	0.01
R8924:Limch1	UTSW	5	67033132	missense	probably benign	0.01
R9080:Limch1	UTSW	5	67017649	missense	probably benign	0.00
X0022:Limch1	UTSW	5	67021952	missense	probably benign	0.00
X0027:Limch1	UTSW	5	67002620	missense	probably damaging	1.00
Z1177:Limch1	UTSW	5	67028799	missense	probably damaging	1.00

Posted On

2013-06-21