Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01401:Lmo7'

79641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lmo7

Ensembl Gene

ENSMUSG00000033060

Gene Name

LIM domain only 7

Synonyms

FBXO20, LOC380928

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL01401

Quality Score

Status

Chromosome

Chromosomal Location

101967393-102172146 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 102031713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 36 (R36*)

Ref Sequence

ENSEMBL: ENSMUSP00000097910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100337]

AlphaFold

E9PYF4

Predicted Effect

probably null
Transcript: ENSMUST00000100337
AA Change: R36*

SMART Domains

Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060
AA Change: R36*

Domain	Start	End	E-Value	Type
CH	14	124	2.57e-13	SMART
low complexity region	200	211	N/A	INTRINSIC
Pfam:DUF4757	242	348	2.2e-14	PFAM
low complexity region	448	462	N/A	INTRINSIC
Pfam:DUF4757	568	735	1.8e-46	PFAM
low complexity region	861	879	N/A	INTRINSIC
low complexity region	979	991	N/A	INTRINSIC
low complexity region	1003	1015	N/A	INTRINSIC
PDZ	1047	1119	1.05e-8	SMART
coiled coil region	1222	1275	N/A	INTRINSIC
coiled coil region	1319	1411	N/A	INTRINSIC
low complexity region	1585	1596	N/A	INTRINSIC
low complexity region	1599	1617	N/A	INTRINSIC
LIM	1629	1687	6.54e-10	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq, Jan 2009]
PHENOTYPE: Targeted mutations in this gene result in postnatal lethality, growth defects, skeletal muscle abnormalities and retinal defects reflective of retinal degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,836,516 (GRCm39)	V758A	possibly damaging	Het
Arf4	T	C	14: 26,359,609 (GRCm39)	L12P	probably damaging	Het
Bltp1	A	G	3: 36,996,441 (GRCm39)	N1051S	probably benign	Het
C4bp	A	T	1: 130,575,801 (GRCm39)	V230E	possibly damaging	Het
Carm1	T	A	9: 21,480,878 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Ceacam16	T	C	7: 19,595,054 (GRCm39)	Y8C	probably benign	Het
Ckap2l	A	T	2: 129,111,136 (GRCm39)	V687E	probably damaging	Het
Dcaf4	A	G	12: 83,588,148 (GRCm39)	D449G	probably damaging	Het
Dhx38	T	C	8: 110,278,746 (GRCm39)	Y1113C	probably benign	Het
Fry	A	G	5: 150,362,253 (GRCm39)	I161V	probably benign	Het
Gm17093	A	C	14: 44,758,984 (GRCm39)	M169L	unknown	Het
Gm20721	A	G	2: 174,187,295 (GRCm39)	D999G	probably damaging	Het
Grin2b	T	C	6: 135,713,361 (GRCm39)	H840R	probably damaging	Het
Hoxc12	C	A	15: 102,845,755 (GRCm39)	H156Q	probably benign	Het
Htr3b	T	C	9: 48,858,934 (GRCm39)	D68G	probably damaging	Het
Inpp5b	T	C	4: 124,639,880 (GRCm39)	V99A	probably damaging	Het
Klhl42	C	T	6: 147,009,241 (GRCm39)	T360M	probably benign	Het
Lmod3	T	G	6: 97,229,513 (GRCm39)	N7T	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mthfd2l	T	A	5: 91,148,425 (GRCm39)	I284K	possibly damaging	Het
Myo1e	T	A	9: 70,234,448 (GRCm39)	I267N	probably damaging	Het
Or13c7d	T	C	4: 43,770,112 (GRCm39)	R300G	probably damaging	Het
Or2y1g	T	A	11: 49,171,314 (GRCm39)	V113E	possibly damaging	Het
Prkce	T	C	17: 86,476,268 (GRCm39)	V83A	probably damaging	Het
Pxdn	G	T	12: 30,051,983 (GRCm39)	C540F	probably damaging	Het
Resf1	A	G	6: 149,228,394 (GRCm39)	E480G	probably damaging	Het
Ryr2	T	A	13: 11,606,238 (GRCm39)	E4448V	possibly damaging	Het
Scn1a	A	T	2: 66,119,455 (GRCm39)	N1349K	probably damaging	Het
Smarcc1	T	C	9: 109,979,033 (GRCm39)	I172T	possibly damaging	Het
Syt16	T	C	12: 74,269,437 (GRCm39)	V92A	possibly damaging	Het
Tenm4	A	G	7: 96,523,474 (GRCm39)	Y1672C	probably damaging	Het
Tmem131	A	G	1: 36,838,468 (GRCm39)	Y1486H	probably damaging	Het
Tmem132a	A	G	19: 10,838,888 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,921,920 (GRCm39)	D314E	probably damaging	Het
Vmn2r79	G	A	7: 86,686,481 (GRCm39)	V621I	probably benign	Het
Wnk4	A	G	11: 101,167,509 (GRCm39)		probably benign	Het
Wwc1	C	A	11: 35,789,445 (GRCm39)		probably null	Het

Other mutations in Lmo7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Lmo7	APN	14	102,124,487 (GRCm39)	missense	probably damaging	0.99
IGL00733:Lmo7	APN	14	102,153,138 (GRCm39)	missense	probably damaging	1.00
IGL00778:Lmo7	APN	14	102,148,321 (GRCm39)	splice site	probably benign
IGL01014:Lmo7	APN	14	102,157,993 (GRCm39)	splice site	probably benign
IGL01550:Lmo7	APN	14	102,163,576 (GRCm39)	utr 3 prime	probably benign
IGL01570:Lmo7	APN	14	102,139,807 (GRCm39)	critical splice donor site	probably null
IGL01602:Lmo7	APN	14	102,148,192 (GRCm39)	splice site	probably benign
IGL01605:Lmo7	APN	14	102,148,192 (GRCm39)	splice site	probably benign
IGL02012:Lmo7	APN	14	102,126,152 (GRCm39)	intron	probably benign
IGL02145:Lmo7	APN	14	102,139,659 (GRCm39)	missense	probably benign	0.00
IGL02236:Lmo7	APN	14	102,163,524 (GRCm39)	splice site	probably benign
IGL02318:Lmo7	APN	14	102,137,502 (GRCm39)	splice site	probably benign
IGL02345:Lmo7	APN	14	102,124,909 (GRCm39)	missense	probably damaging	1.00
IGL02498:Lmo7	APN	14	102,044,918 (GRCm39)	missense	probably benign	0.01
IGL02583:Lmo7	APN	14	102,171,360 (GRCm39)	utr 3 prime	probably benign
IGL02670:Lmo7	APN	14	102,118,416 (GRCm39)	missense	probably damaging	1.00
IGL02694:Lmo7	APN	14	102,124,606 (GRCm39)	missense	probably damaging	1.00
IGL03026:Lmo7	APN	14	102,166,769 (GRCm39)	utr 3 prime	probably benign
IGL03062:Lmo7	APN	14	102,149,515 (GRCm39)	missense	possibly damaging	0.66
IGL03068:Lmo7	APN	14	102,112,928 (GRCm39)	unclassified	probably benign
IGL03178:Lmo7	APN	14	102,166,696 (GRCm39)	nonsense	probably null
IGL03279:Lmo7	APN	14	102,137,944 (GRCm39)	missense	probably benign	0.30
PIT4458001:Lmo7	UTSW	14	102,124,923 (GRCm39)	nonsense	probably null
R0029:Lmo7	UTSW	14	102,171,357 (GRCm39)	utr 3 prime	probably benign
R0112:Lmo7	UTSW	14	102,124,629 (GRCm39)	nonsense	probably null
R0345:Lmo7	UTSW	14	102,114,313 (GRCm39)	missense	probably damaging	1.00
R0372:Lmo7	UTSW	14	102,155,489 (GRCm39)	splice site	probably benign
R0393:Lmo7	UTSW	14	102,137,892 (GRCm39)	missense	probably benign
R0514:Lmo7	UTSW	14	102,133,995 (GRCm39)	missense	probably damaging	1.00
R0514:Lmo7	UTSW	14	102,124,609 (GRCm39)	missense	probably damaging	1.00
R0526:Lmo7	UTSW	14	102,137,996 (GRCm39)	missense	probably damaging	1.00
R0615:Lmo7	UTSW	14	102,114,295 (GRCm39)	nonsense	probably null
R0900:Lmo7	UTSW	14	102,124,624 (GRCm39)	missense	probably damaging	1.00
R0961:Lmo7	UTSW	14	102,031,705 (GRCm39)	missense	probably benign	0.00
R0964:Lmo7	UTSW	14	102,158,003 (GRCm39)	splice site	probably benign
R1078:Lmo7	UTSW	14	102,157,910 (GRCm39)	splice site	probably benign
R1252:Lmo7	UTSW	14	102,138,019 (GRCm39)	missense	probably damaging	1.00
R1527:Lmo7	UTSW	14	102,114,264 (GRCm39)	missense	probably damaging	1.00
R1537:Lmo7	UTSW	14	102,166,700 (GRCm39)	utr 3 prime	probably benign
R1565:Lmo7	UTSW	14	102,124,957 (GRCm39)	missense	probably damaging	0.99
R1637:Lmo7	UTSW	14	102,118,268 (GRCm39)	missense	probably damaging	1.00
R1943:Lmo7	UTSW	14	102,139,738 (GRCm39)	missense	probably damaging	1.00
R1967:Lmo7	UTSW	14	102,137,651 (GRCm39)	missense	probably benign	0.36
R2002:Lmo7	UTSW	14	102,124,497 (GRCm39)	missense	probably benign	0.13
R2057:Lmo7	UTSW	14	102,124,614 (GRCm39)	missense	probably damaging	1.00
R2131:Lmo7	UTSW	14	102,137,674 (GRCm39)	missense	probably damaging	0.99
R2153:Lmo7	UTSW	14	102,157,951 (GRCm39)	utr 3 prime	probably benign
R2257:Lmo7	UTSW	14	102,137,566 (GRCm39)	missense	probably damaging	1.00
R2355:Lmo7	UTSW	14	102,126,121 (GRCm39)	missense	probably damaging	1.00
R2356:Lmo7	UTSW	14	102,124,381 (GRCm39)	missense	probably damaging	1.00
R2898:Lmo7	UTSW	14	102,114,350 (GRCm39)	missense	possibly damaging	0.93
R3847:Lmo7	UTSW	14	102,159,531 (GRCm39)	critical splice acceptor site	probably null
R3848:Lmo7	UTSW	14	102,159,531 (GRCm39)	critical splice acceptor site	probably null
R3849:Lmo7	UTSW	14	102,159,531 (GRCm39)	critical splice acceptor site	probably null
R3916:Lmo7	UTSW	14	102,166,778 (GRCm39)	utr 3 prime	probably benign
R4050:Lmo7	UTSW	14	102,139,713 (GRCm39)	nonsense	probably null
R4326:Lmo7	UTSW	14	102,137,510 (GRCm39)	missense	possibly damaging	0.93
R4357:Lmo7	UTSW	14	102,125,091 (GRCm39)	missense	probably null	1.00
R4571:Lmo7	UTSW	14	102,125,030 (GRCm39)	missense	probably damaging	0.96
R4658:Lmo7	UTSW	14	102,124,393 (GRCm39)	missense	probably damaging	1.00
R4857:Lmo7	UTSW	14	102,124,784 (GRCm39)	splice site	probably null
R5006:Lmo7	UTSW	14	102,163,673 (GRCm39)	utr 3 prime	probably benign
R5528:Lmo7	UTSW	14	102,139,522 (GRCm39)	missense	probably damaging	1.00
R5588:Lmo7	UTSW	14	102,134,026 (GRCm39)	splice site	probably null
R5643:Lmo7	UTSW	14	102,166,772 (GRCm39)	utr 3 prime	probably benign
R5644:Lmo7	UTSW	14	102,166,772 (GRCm39)	utr 3 prime	probably benign
R5650:Lmo7	UTSW	14	102,136,110 (GRCm39)	missense	probably damaging	1.00
R5737:Lmo7	UTSW	14	102,124,672 (GRCm39)	missense	probably damaging	1.00
R5832:Lmo7	UTSW	14	102,121,649 (GRCm39)	missense	probably damaging	1.00
R5966:Lmo7	UTSW	14	102,137,938 (GRCm39)	missense	possibly damaging	0.92
R6026:Lmo7	UTSW	14	102,118,426 (GRCm39)	missense	probably benign	0.04
R6072:Lmo7	UTSW	14	102,166,772 (GRCm39)	utr 3 prime	probably benign
R6158:Lmo7	UTSW	14	102,137,573 (GRCm39)	missense	probably benign	0.03
R6246:Lmo7	UTSW	14	102,156,136 (GRCm39)	missense	probably damaging	1.00
R6335:Lmo7	UTSW	14	102,138,072 (GRCm39)	missense	probably damaging	1.00
R6620:Lmo7	UTSW	14	102,112,888 (GRCm39)	missense	probably benign	0.29
R6658:Lmo7	UTSW	14	102,148,281 (GRCm39)	missense	possibly damaging	0.84
R6917:Lmo7	UTSW	14	102,155,446 (GRCm39)	missense	probably damaging	1.00
R7064:Lmo7	UTSW	14	102,121,615 (GRCm39)	missense	probably damaging	1.00
R7072:Lmo7	UTSW	14	102,136,136 (GRCm39)	critical splice donor site	probably null
R7121:Lmo7	UTSW	14	102,124,471 (GRCm39)	missense	probably damaging	1.00
R7136:Lmo7	UTSW	14	102,157,975 (GRCm39)	missense	unknown
R7196:Lmo7	UTSW	14	102,133,936 (GRCm39)	missense	possibly damaging	0.75
R7228:Lmo7	UTSW	14	102,133,971 (GRCm39)	missense	probably damaging	0.99
R7337:Lmo7	UTSW	14	102,121,640 (GRCm39)	missense	probably damaging	0.98
R7341:Lmo7	UTSW	14	102,122,948 (GRCm39)	missense	probably benign	0.30
R7408:Lmo7	UTSW	14	102,118,389 (GRCm39)	missense	probably damaging	1.00
R7432:Lmo7	UTSW	14	102,139,551 (GRCm39)	missense	probably benign	0.42
R7470:Lmo7	UTSW	14	102,138,040 (GRCm39)	missense	possibly damaging	0.83
R7506:Lmo7	UTSW	14	102,157,045 (GRCm39)	missense	unknown
R7559:Lmo7	UTSW	14	102,124,662 (GRCm39)	nonsense	probably null
R7565:Lmo7	UTSW	14	102,122,737 (GRCm39)	missense	probably damaging	0.98
R7788:Lmo7	UTSW	14	102,136,012 (GRCm39)	missense	possibly damaging	0.64
R8095:Lmo7	UTSW	14	102,124,855 (GRCm39)	missense	possibly damaging	0.88
R8100:Lmo7	UTSW	14	102,137,899 (GRCm39)	missense	probably benign	0.33
R8121:Lmo7	UTSW	14	102,163,736 (GRCm39)	missense	unknown
R8308:Lmo7	UTSW	14	102,139,807 (GRCm39)	critical splice donor site	probably null
R8371:Lmo7	UTSW	14	102,124,444 (GRCm39)	missense	possibly damaging	0.95
R8403:Lmo7	UTSW	14	102,139,800 (GRCm39)	missense	probably benign	0.03
R8690:Lmo7	UTSW	14	102,168,644 (GRCm39)	missense	unknown
R8778:Lmo7	UTSW	14	102,156,655 (GRCm39)	missense	probably benign	0.24
R8778:Lmo7	UTSW	14	102,149,503 (GRCm39)	missense	probably damaging	0.98
R8822:Lmo7	UTSW	14	102,121,610 (GRCm39)	missense	probably damaging	1.00
R8849:Lmo7	UTSW	14	102,163,543 (GRCm39)	missense	unknown
R8923:Lmo7	UTSW	14	102,137,679 (GRCm39)	missense	probably benign	0.31
R9006:Lmo7	UTSW	14	102,155,072 (GRCm39)	small deletion	probably benign
R9135:Lmo7	UTSW	14	102,118,297 (GRCm39)	missense	probably damaging	1.00
R9154:Lmo7	UTSW	14	102,122,743 (GRCm39)	missense	probably damaging	0.99
R9178:Lmo7	UTSW	14	102,044,906 (GRCm39)	nonsense	probably null
R9375:Lmo7	UTSW	14	102,136,123 (GRCm39)	missense	probably damaging	0.99
R9428:Lmo7	UTSW	14	102,155,076 (GRCm39)	missense	probably damaging	0.99
R9488:Lmo7	UTSW	14	102,122,783 (GRCm39)	missense	possibly damaging	0.85
R9493:Lmo7	UTSW	14	102,137,907 (GRCm39)	missense	probably benign	0.01
R9594:Lmo7	UTSW	14	102,156,136 (GRCm39)	missense	probably null	0.98
R9674:Lmo7	UTSW	14	102,078,340 (GRCm39)	missense	probably damaging	1.00
R9736:Lmo7	UTSW	14	102,157,929 (GRCm39)	missense	unknown
X0066:Lmo7	UTSW	14	102,124,897 (GRCm39)	missense	probably damaging	1.00
X0067:Lmo7	UTSW	14	102,124,369 (GRCm39)	splice site	probably null
Z1176:Lmo7	UTSW	14	102,156,717 (GRCm39)	missense	probably benign	0.00
Z1176:Lmo7	UTSW	14	102,121,742 (GRCm39)	missense	probably damaging	0.99
Z1176:Lmo7	UTSW	14	102,166,664 (GRCm39)	missense	unknown
Z1176:Lmo7	UTSW	14	102,156,879 (GRCm39)	missense	unknown
Z1177:Lmo7	UTSW	14	102,135,993 (GRCm39)	missense	probably damaging	1.00
Z1177:Lmo7	UTSW	14	102,133,954 (GRCm39)	missense	possibly damaging	0.96

Posted On

2013-11-05