Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Lmo7'

288150

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 #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

101967393-102172146 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 102137502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100337] [ENSMUST00000159026] [ENSMUST00000159258] [ENSMUST00000159314] [ENSMUST00000159597]

AlphaFold

E9PYF4

Predicted Effect

probably benign
Transcript: ENSMUST00000100337

SMART Domains

Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159026

SMART Domains

Protein: ENSMUSP00000124605
Gene: ENSMUSG00000033060

Domain	Start	End	E-Value	Type
low complexity region	215	229	N/A	INTRINSIC
coiled coil region	435	471	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159258

SMART Domains

Protein: ENSMUSP00000125465
Gene: ENSMUSG00000033060

Domain	Start	End	E-Value	Type
low complexity region	215	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159314

SMART Domains

Protein: ENSMUSP00000124349
Gene: ENSMUSG00000033060

Domain	Start	End	E-Value	Type
low complexity region	215	229	N/A	INTRINSIC
coiled coil region	435	492	N/A	INTRINSIC
low complexity region	628	646	N/A	INTRINSIC
low complexity region	746	758	N/A	INTRINSIC
low complexity region	770	782	N/A	INTRINSIC
PDZ	814	886	1.05e-8	SMART
coiled coil region	989	1042	N/A	INTRINSIC
coiled coil region	1086	1178	N/A	INTRINSIC
low complexity region	1352	1363	N/A	INTRINSIC
low complexity region	1366	1384	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159597

SMART Domains

Protein: ENSMUSP00000123706
Gene: ENSMUSG00000033060

Domain	Start	End	E-Value	Type
low complexity region	78	89	N/A	INTRINSIC
internal_repeat_1	111	141	6.96e-5	PROSPERO
internal_repeat_1	218	248	6.96e-5	PROSPERO
low complexity region	326	340	N/A	INTRINSIC
coiled coil region	546	603	N/A	INTRINSIC
low complexity region	739	757	N/A	INTRINSIC
low complexity region	857	869	N/A	INTRINSIC
low complexity region	881	893	N/A	INTRINSIC
PDZ	925	997	1.05e-8	SMART
coiled coil region	1127	1180	N/A	INTRINSIC
coiled coil region	1224	1316	N/A	INTRINSIC
low complexity region	1490	1501	N/A	INTRINSIC
low complexity region	1504	1522	N/A	INTRINSIC
LIM	1534	1592	6.54e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159806

SMART Domains

Protein: ENSMUSP00000124300
Gene: ENSMUSG00000033060

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
Pfam:DUF4757	76	225	4.5e-53	PFAM
low complexity region	351	369	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	493	505	N/A	INTRINSIC
PDZ	537	609	1.05e-8	SMART
internal_repeat_1	620	691	9.31e-5	PROSPERO
coiled coil region	711	764	N/A	INTRINSIC
coiled coil region	808	900	N/A	INTRINSIC
internal_repeat_1	921	976	9.31e-5	PROSPERO
low complexity region	1075	1086	N/A	INTRINSIC
low complexity region	1089	1107	N/A	INTRINSIC
LIM	1119	1177	6.54e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160876

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,561,838 (GRCm39)	F116S	probably damaging	Het
Abhd18	G	A	3: 40,884,662 (GRCm39)		probably null	Het
Akr1c6	G	T	13: 4,488,496 (GRCm39)	C34F	probably benign	Het
Ankef1	T	A	2: 136,386,695 (GRCm39)	I180N	possibly damaging	Het
Ap1b1	G	A	11: 4,969,294 (GRCm39)	V217I	probably benign	Het
Arhgap27	T	C	11: 103,223,989 (GRCm39)	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,170,627 (GRCm39)	T1136A	probably benign	Het
Ascc3	T	A	10: 50,604,250 (GRCm39)	Y1323*	probably null	Het
Bsx	A	C	9: 40,785,517 (GRCm39)	Q15P	probably benign	Het
Cdh20	A	G	1: 104,881,764 (GRCm39)	I410V	probably null	Het
Cfhr4	T	A	1: 139,708,835 (GRCm39)	E24D	probably benign	Het
Col20a1	A	G	2: 180,648,952 (GRCm39)	D945G	probably damaging	Het
Cox20	A	G	1: 178,150,043 (GRCm39)		probably null	Het
Cplane1	A	G	15: 8,204,509 (GRCm39)	K96E	probably damaging	Het
Cpne9	A	G	6: 113,270,699 (GRCm39)	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,439,444 (GRCm39)	T33A	probably benign	Het
Dvl3	A	G	16: 20,342,493 (GRCm39)	R149G	possibly damaging	Het
Dysf	A	G	6: 84,163,446 (GRCm39)	I1624V	possibly damaging	Het
Echs1	A	T	7: 139,691,623 (GRCm39)	L167Q	probably damaging	Het
Ect2	A	T	3: 27,192,868 (GRCm39)	N358K	probably benign	Het
Eml4	A	G	17: 83,748,795 (GRCm39)	I230V	probably benign	Het
Fut10	A	G	8: 31,726,286 (GRCm39)	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,299,483 (GRCm39)	N401K	probably damaging	Het
Gm4795	C	T	10: 44,882,735 (GRCm39)		noncoding transcript	Het
Gm5592	C	A	7: 40,936,212 (GRCm39)	T238N	probably benign	Het
Gm9892	T	C	8: 52,649,260 (GRCm39)		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388 (GRCm39)	M134I	possibly damaging	Het
Grk3	A	G	5: 113,085,669 (GRCm39)	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,368,669 (GRCm39)	I215T	probably damaging	Het
Ilkap	A	G	1: 91,312,960 (GRCm39)		probably null	Het
Inpp4a	T	C	1: 37,407,384 (GRCm39)	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Luc7l3	C	T	11: 94,183,819 (GRCm39)	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,205,515 (GRCm39)	I219S	probably benign	Het
Myo9b	G	A	8: 71,806,768 (GRCm39)	E1581K	probably damaging	Het
Nfs1	T	A	2: 155,966,191 (GRCm39)	Q458L	probably damaging	Het
Numb	A	T	12: 83,878,692 (GRCm39)		probably null	Het
Nxf1	G	A	19: 8,741,514 (GRCm39)		probably null	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or52z1	A	G	7: 103,437,475 (GRCm39)	V3A	probably benign	Het
Pacc1	A	G	1: 191,080,605 (GRCm39)	E275G	possibly damaging	Het
Pde2a	A	T	7: 101,152,550 (GRCm39)	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 110,666,505 (GRCm39)	L1011F	probably benign	Het
Potefam3e	T	C	8: 19,797,815 (GRCm39)		probably null	Het
Prss27	G	T	17: 24,264,571 (GRCm39)	V245L	probably benign	Het
Rbm7	T	C	9: 48,405,411 (GRCm39)	N56S	probably damaging	Het
Rftn1	T	C	17: 50,343,998 (GRCm39)	I97V	possibly damaging	Het
Ric3	T	C	7: 108,647,287 (GRCm39)	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323 (GRCm39)		probably benign	Het
Sall2	T	C	14: 52,553,022 (GRCm39)	T56A	probably damaging	Het
Sgk1	T	C	10: 21,871,440 (GRCm39)	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,050,223 (GRCm39)	A281T	probably damaging	Het
Spta1	A	G	1: 174,002,029 (GRCm39)	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,900,092 (GRCm39)	D468G	probably damaging	Het
Tmem108	A	T	9: 103,376,981 (GRCm39)	V156E	probably benign	Het
Tnfaip3	T	G	10: 18,880,215 (GRCm39)	R617S	probably benign	Het
Traf3	A	G	12: 111,204,031 (GRCm39)	M7V	probably benign	Het
Ubr3	T	A	2: 69,809,741 (GRCm39)	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,718,795 (GRCm39)	V716A	probably benign	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
IGL01401:Lmo7	APN	14	102,031,713 (GRCm39)	nonsense	probably null
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
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

2015-04-16