Mutagenetix > Incidental Mutation

Incidental Mutation 'R8308:Lmo7'

641213

Institutional Source

Beutler Lab

Gene Symbol

Lmo7

Ensembl Gene

ENSMUSG00000033060

Gene Name

LIM domain only 7

Synonyms

FBXO20, LOC380928

MMRRC Submission

067793-MU

Accession Numbers

Essential gene?

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

Stock #

R8308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101967393-102172146 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 102139807 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 null
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 null
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 null
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 null
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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,570 (GRCm39)	D341G	probably damaging	Het
Abca17	T	C	17: 24,486,657 (GRCm39)	T1457A	probably damaging	Het
Acot8	A	T	2: 164,646,663 (GRCm39)	S25R	probably benign	Het
Ap2a2	T	C	7: 141,210,212 (GRCm39)	V850A	probably benign	Het
Baiap2l1	T	A	5: 144,214,487 (GRCm39)	E402D	probably benign	Het
Bptf	T	C	11: 106,943,815 (GRCm39)	K2689E	probably damaging	Het
Cdh22	C	A	2: 164,954,098 (GRCm39)	D808Y	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cipc	A	G	12: 87,008,809 (GRCm39)	T223A	probably benign	Het
Crem	G	T	18: 3,295,397 (GRCm39)	T57K	possibly damaging	Het
Cyp17a1	T	A	19: 46,656,516 (GRCm39)	I393F	probably benign	Het
Dgcr2	C	T	16: 17,676,242 (GRCm39)	G176D	probably benign	Het
Dock3	C	A	9: 106,790,371 (GRCm39)	V1451L	probably benign	Het
Dsg2	C	T	18: 20,708,121 (GRCm39)	P74L	probably benign	Het
Ece1	T	C	4: 137,664,075 (GRCm39)	V224A	probably damaging	Het
Flg	A	T	3: 93,190,586 (GRCm39)	S152C	unknown	Het
Gcsam	A	T	16: 45,430,902 (GRCm39)	N3I	probably damaging	Het
Gm10188	C	T	1: 132,157,310 (GRCm39)	V19I	unknown	Het
Gpr27	T	C	6: 99,670,217 (GRCm39)	L193P	probably damaging	Het
Grin2b	A	T	6: 135,900,074 (GRCm39)	V269E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Kif14	A	G	1: 136,443,651 (GRCm39)	I1275V	possibly damaging	Het
Krt27	T	C	11: 99,239,862 (GRCm39)	E234G	probably benign	Het
Matk	T	G	10: 81,094,121 (GRCm39)	S18A	probably benign	Het
Mbd3l1	A	G	9: 18,395,886 (GRCm39)	T4A	probably benign	Het
Mettl23	G	A	11: 116,739,185 (GRCm39)		probably null	Het
Ncam1	A	T	9: 49,479,817 (GRCm39)	W54R	probably damaging	Het
Olfm5	A	G	7: 103,803,606 (GRCm39)	Y286H	probably damaging	Het
Or10d5j	T	A	9: 39,868,265 (GRCm39)	M1L	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or4q3	T	C	14: 50,582,922 (GRCm39)	I326V	probably benign	Het
Or5ac15	C	T	16: 58,939,899 (GRCm39)	C178Y	probably damaging	Het
Pmch	A	G	10: 87,927,614 (GRCm39)	Y105C	probably damaging	Het
Prg3	A	G	2: 84,819,676 (GRCm39)	T57A	probably benign	Het
Ptpn13	A	G	5: 103,688,838 (GRCm39)	E877G	probably damaging	Het
Ptprt	A	G	2: 161,769,566 (GRCm39)	V433A	probably benign	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Scara5	C	T	14: 65,927,234 (GRCm39)	R44W	probably damaging	Het
Scg2	T	G	1: 79,414,576 (GRCm39)	K49T	probably benign	Het
Slc40a1	A	G	1: 45,950,180 (GRCm39)	I424T	probably benign	Het
Slc4a8	T	A	15: 100,693,735 (GRCm39)	S479T	probably damaging	Het
Sorl1	T	C	9: 41,929,456 (GRCm39)	D1139G	probably damaging	Het
Srcap	A	G	7: 127,152,353 (GRCm39)	I2206V	possibly damaging	Het
Tpk1	T	C	6: 43,642,711 (GRCm39)	E9G	probably benign	Het
Ttn	C	T	2: 76,642,645 (GRCm39)	V13297I	possibly damaging	Het
Uchl3	T	C	14: 101,932,655 (GRCm39)		probably null	Het
Usp12	T	C	5: 146,688,751 (GRCm39)	D201G	probably damaging	Het
Vmn1r193	C	T	13: 22,403,146 (GRCm39)	R282H	probably benign	Het
Vmn2r104	T	C	17: 20,261,040 (GRCm39)	D461G	possibly damaging	Het
Zfp131	A	G	13: 120,244,440 (GRCm39)	M80T	possibly damaging	Het
Zfp457	A	G	13: 67,441,663 (GRCm39)	L304P	probably benign	Het
Zswim3	A	G	2: 164,663,566 (GRCm39)	E682G	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAAGATGTGGCAAGCTTGTC -3'
(R):5'- CCAAGAGACTGGTCTACCATG -3'

Sequencing Primer
(F):5'- AGATGTGGCAAGCTTGTCCTCTC -3'
(R):5'- ACACAGCTCATGAAGGTTGTCTG -3'

Posted On

2020-07-28