Mutagenetix > Incidental Mutations

Incidental Mutation 'R2257:Lmo7'

243477

Institutional Source

Beutler Lab

Gene Symbol

Lmo7

Ensembl Gene

ENSMUSG00000033060

Gene Name

LIM domain only 7

Synonyms

FBXO20, LOC380928

MMRRC Submission

040257-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R2257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101729957-101934710 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101900130 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 634 (L634P)

Ref Sequence

ENSEMBL: ENSMUSP00000123706 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100337
AA Change: L756P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060
AA Change: L756P

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
AA Change: L523P

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124349
Gene: ENSMUSG00000033060
AA Change: L523P

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 damaging
Transcript: ENSMUST00000159597
AA Change: L634P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123706
Gene: ENSMUSG00000033060
AA Change: L634P

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

unknown
Transcript: ENSMUST00000159806
AA Change: L245P

SMART Domains

Protein: ENSMUSP00000124300
Gene: ENSMUSG00000033060
AA Change: L245P

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

Meta Mutation Damage Score

0.3794

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
4930567H17Rik	A	T	X: 70,394,406	W94R	probably damaging	Het
4931409K22Rik	C	T	5: 24,552,040		probably benign	Het
Abcc3	C	T	11: 94,363,594	V693M	probably damaging	Het
Acp7	A	C	7: 28,614,413	W399G	probably damaging	Het
Ap1s1	T	C	5: 137,041,779	Y94C	possibly damaging	Het
Arhgap32	T	C	9: 32,247,497	I186T	probably damaging	Het
Atg4a	A	G	X: 140,990,235	I91V	probably benign	Het
Atp7b	T	G	8: 21,998,266	T1102P	probably damaging	Het
Cabs1	T	C	5: 87,980,215	S242P	probably damaging	Het
Cass4	T	C	2: 172,427,470	F493L	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Cdk14	T	A	5: 4,888,924	M433L	probably benign	Het
Cep162	C	A	9: 87,206,914	D972Y	probably damaging	Het
Cfap100	C	G	6: 90,413,820	R184P	possibly damaging	Het
Clasrp	A	G	7: 19,586,585		probably benign	Het
Copb1	T	A	7: 114,253,875	D29V	possibly damaging	Het
Cyp2b9	G	A	7: 26,173,605		probably null	Het
Dhx36	C	T	3: 62,477,643	G683S	probably damaging	Het
Dnah10	T	A	5: 124,761,237	I1110N	probably damaging	Het
Dnajc3	C	G	14: 118,972,702	P322A	probably benign	Het
Eml4	A	G	17: 83,477,760	T785A	probably damaging	Het
Fam228a	T	C	12: 4,737,775		probably benign	Het
Fam83e	A	T	7: 45,728,769	K406*	probably null	Het
Fam83e	A	T	7: 45,728,770	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 21,963,517	L296Q	possibly damaging	Het
Fat1	A	G	8: 44,950,371	Y53C	probably damaging	Het
Fcrls	T	C	3: 87,259,621	I22V	probably damaging	Het
Fryl	T	A	5: 73,072,844	N1657Y	possibly damaging	Het
Greb1l	A	G	18: 10,503,307	M453V	possibly damaging	Het
Grm8	A	T	6: 27,760,225	C369S	probably damaging	Het
Hdc	G	A	2: 126,616,080		probably null	Het
Hsf3	A	T	X: 96,320,322	L191*	probably null	Het
Kif4	A	T	X: 100,726,131	N1126Y	probably benign	Het
Lat2	T	C	5: 134,602,627	D191G	probably damaging	Het
Lipt2	C	T	7: 100,159,394	T38I	probably benign	Het
Lrrc6	T	A	15: 66,437,587		probably benign	Het
Magea2	A	T	X: 155,027,859	L243Q	probably damaging	Het
Mctp2	A	G	7: 72,185,820	L543P	probably damaging	Het
Mgat4a	T	C	1: 37,490,313	N24D	probably benign	Het
Mical3	A	T	6: 121,033,735	S429T	possibly damaging	Het
Mrps35	A	G	6: 147,070,627	E256G	possibly damaging	Het
Mybbp1a	T	A	11: 72,446,195	S586T	probably benign	Het
Myo1e	G	A	9: 70,378,373		probably null	Het
Nob1	A	G	8: 107,417,097		probably benign	Het
Nom1	T	A	5: 29,437,752	V417D	probably damaging	Het
Nphs1	A	T	7: 30,467,992	I782F	possibly damaging	Het
Numa1	A	G	7: 102,000,791	E1243G	probably damaging	Het
Olfr676	A	G	7: 105,035,819	Y207C	probably benign	Het
Olfr845	A	G	9: 19,338,493	E11G	probably benign	Het
Padi4	G	A	4: 140,759,940	T217I	possibly damaging	Het
Pias3	C	T	3: 96,699,646	T75I	probably benign	Het
Ppp1r37	G	T	7: 19,562,018		probably benign	Het
Prrc2a	G	A	17: 35,161,068	P185L	unknown	Het
Prss57	C	T	10: 79,787,370	C81Y	probably damaging	Het
Psen1	C	T	12: 83,714,820	S132L	probably damaging	Het
Ranbp6	A	G	19: 29,811,549	S468P	possibly damaging	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Slc2a9	T	C	5: 38,453,199	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,091,016	M555K	probably benign	Het
Thoc1	C	A	18: 9,993,466	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,492,069	Y562*	probably null	Het
Tmem121b	A	G	6: 120,492,071	Y562H	probably damaging	Het
Tmprss7	A	T	16: 45,686,333	M122K	possibly damaging	Het
Tmub1	C	A	5: 24,446,924	G14V	possibly damaging	Het
Uap1	A	T	1: 170,158,743		probably benign	Het
Ugdh	A	T	5: 65,417,115		probably benign	Het
Vmn2r59	A	T	7: 42,012,245	C715*	probably null	Het
Vps13a	G	A	19: 16,682,174	T1663I	possibly damaging	Het
Vps13c	A	C	9: 67,952,946	I2815L	possibly damaging	Het
Zc3h3	G	T	15: 75,839,566	Q349K	possibly damaging	Het

Other mutations in Lmo7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Lmo7	APN	14	101887051	missense	probably damaging	0.99
IGL00733:Lmo7	APN	14	101915702	missense	probably damaging	1.00
IGL00778:Lmo7	APN	14	101910885	splice site	probably benign
IGL01014:Lmo7	APN	14	101920557	splice site	probably benign
IGL01401:Lmo7	APN	14	101794277	nonsense	probably null
IGL01550:Lmo7	APN	14	101926140	utr 3 prime	probably benign
IGL01570:Lmo7	APN	14	101902371	critical splice donor site	probably null
IGL01602:Lmo7	APN	14	101910756	splice site	probably benign
IGL01605:Lmo7	APN	14	101910756	splice site	probably benign
IGL02012:Lmo7	APN	14	101888716	intron	probably benign
IGL02145:Lmo7	APN	14	101902223	missense	probably benign	0.00
IGL02236:Lmo7	APN	14	101926088	splice site	probably benign
IGL02318:Lmo7	APN	14	101900066	splice site	probably benign
IGL02345:Lmo7	APN	14	101887473	missense	probably damaging	1.00
IGL02498:Lmo7	APN	14	101807482	missense	probably benign	0.01
IGL02583:Lmo7	APN	14	101933924	utr 3 prime	probably benign
IGL02670:Lmo7	APN	14	101880980	missense	probably damaging	1.00
IGL02694:Lmo7	APN	14	101887170	missense	probably damaging	1.00
IGL03026:Lmo7	APN	14	101929333	utr 3 prime	probably benign
IGL03062:Lmo7	APN	14	101912079	missense	possibly damaging	0.66
IGL03068:Lmo7	APN	14	101875492	unclassified	probably benign
IGL03178:Lmo7	APN	14	101929260	nonsense	probably null
IGL03279:Lmo7	APN	14	101900508	missense	probably benign	0.30
PIT4458001:Lmo7	UTSW	14	101887487	nonsense	probably null
R0029:Lmo7	UTSW	14	101933921	utr 3 prime	probably benign
R0112:Lmo7	UTSW	14	101887193	nonsense	probably null
R0345:Lmo7	UTSW	14	101876877	missense	probably damaging	1.00
R0372:Lmo7	UTSW	14	101918053	splice site	probably benign
R0393:Lmo7	UTSW	14	101900456	missense	probably benign
R0514:Lmo7	UTSW	14	101887173	missense	probably damaging	1.00
R0514:Lmo7	UTSW	14	101896559	missense	probably damaging	1.00
R0526:Lmo7	UTSW	14	101900560	missense	probably damaging	1.00
R0615:Lmo7	UTSW	14	101876859	nonsense	probably null
R0900:Lmo7	UTSW	14	101887188	missense	probably damaging	1.00
R0961:Lmo7	UTSW	14	101794269	missense	probably benign	0.00
R0964:Lmo7	UTSW	14	101920567	splice site	probably benign
R1078:Lmo7	UTSW	14	101920474	splice site	probably benign
R1252:Lmo7	UTSW	14	101900583	missense	probably damaging	1.00
R1527:Lmo7	UTSW	14	101876828	missense	probably damaging	1.00
R1537:Lmo7	UTSW	14	101929264	utr 3 prime	probably benign
R1565:Lmo7	UTSW	14	101887521	missense	probably damaging	0.99
R1637:Lmo7	UTSW	14	101880832	missense	probably damaging	1.00
R1943:Lmo7	UTSW	14	101902302	missense	probably damaging	1.00
R1967:Lmo7	UTSW	14	101900215	missense	probably benign	0.36
R2002:Lmo7	UTSW	14	101887061	missense	probably benign	0.13
R2057:Lmo7	UTSW	14	101887178	missense	probably damaging	1.00
R2131:Lmo7	UTSW	14	101900238	missense	probably damaging	0.99
R2153:Lmo7	UTSW	14	101920515	utr 3 prime	probably benign
R2355:Lmo7	UTSW	14	101888685	missense	probably damaging	1.00
R2356:Lmo7	UTSW	14	101886945	missense	probably damaging	1.00
R2898:Lmo7	UTSW	14	101876914	missense	possibly damaging	0.93
R3847:Lmo7	UTSW	14	101922095	critical splice acceptor site	probably null
R3848:Lmo7	UTSW	14	101922095	critical splice acceptor site	probably null
R3849:Lmo7	UTSW	14	101922095	critical splice acceptor site	probably null
R3916:Lmo7	UTSW	14	101929342	utr 3 prime	probably benign
R4050:Lmo7	UTSW	14	101902277	nonsense	probably null
R4326:Lmo7	UTSW	14	101900074	missense	possibly damaging	0.93
R4357:Lmo7	UTSW	14	101887655	missense	probably null	1.00
R4571:Lmo7	UTSW	14	101887594	missense	probably damaging	0.96
R4658:Lmo7	UTSW	14	101886957	missense	probably damaging	1.00
R4857:Lmo7	UTSW	14	101887348	intron	probably null
R5006:Lmo7	UTSW	14	101926237	utr 3 prime	probably benign
R5528:Lmo7	UTSW	14	101902086	missense	probably damaging	1.00
R5588:Lmo7	UTSW	14	101896590	splice site	probably null
R5643:Lmo7	UTSW	14	101929336	utr 3 prime	probably benign
R5644:Lmo7	UTSW	14	101929336	utr 3 prime	probably benign
R5650:Lmo7	UTSW	14	101898674	missense	probably damaging	1.00
R5737:Lmo7	UTSW	14	101887236	missense	probably damaging	1.00
R5832:Lmo7	UTSW	14	101884213	missense	probably damaging	1.00
R5966:Lmo7	UTSW	14	101900502	missense	possibly damaging	0.92
R6026:Lmo7	UTSW	14	101880990	missense	probably benign	0.04
R6072:Lmo7	UTSW	14	101929336	utr 3 prime	probably benign
R6158:Lmo7	UTSW	14	101900137	missense	probably benign	0.03
R6246:Lmo7	UTSW	14	101918700	missense	probably damaging	1.00
R6335:Lmo7	UTSW	14	101900636	missense	probably damaging	1.00
R6620:Lmo7	UTSW	14	101875452	missense	probably benign	0.29
R6658:Lmo7	UTSW	14	101910845	missense	possibly damaging	0.84
R6917:Lmo7	UTSW	14	101918010	missense	probably damaging	1.00
R7064:Lmo7	UTSW	14	101884179	missense	probably damaging	1.00
R7072:Lmo7	UTSW	14	101898700	critical splice donor site	probably null
R7121:Lmo7	UTSW	14	101887035	missense	probably damaging	1.00
R7136:Lmo7	UTSW	14	101920539	missense	unknown
R7196:Lmo7	UTSW	14	101896500	missense	possibly damaging	0.75
R7228:Lmo7	UTSW	14	101896535	missense	probably damaging	0.99
R7337:Lmo7	UTSW	14	101884204	missense	probably damaging	0.98
R7341:Lmo7	UTSW	14	101885512	missense	probably benign	0.30
R7408:Lmo7	UTSW	14	101880953	missense	probably damaging	1.00
R7432:Lmo7	UTSW	14	101902115	missense	probably benign	0.42
R7470:Lmo7	UTSW	14	101900604	missense	possibly damaging	0.83
R7506:Lmo7	UTSW	14	101919609	missense	unknown
R7559:Lmo7	UTSW	14	101887226	nonsense	probably null
R7565:Lmo7	UTSW	14	101885301	missense	probably damaging	0.98
R7788:Lmo7	UTSW	14	101898576	missense	possibly damaging	0.64
X0066:Lmo7	UTSW	14	101887461	missense	probably damaging	1.00
X0067:Lmo7	UTSW	14	101886933	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTCAGATCAGTTTCTTAGCTGATGC -3'
(R):5'- CGTTGCTCTTCAGGACTGTG -3'

Sequencing Primer
(F):5'- CTGCATAATCCCATTAGTGTTGTTG -3'
(R):5'- CTCTTCAGGACTGTGAGAAGC -3'

Posted On

2014-10-16