Mutagenetix > Incidental Mutations

Incidental Mutation 'R6246:Lmo7'

505808

Institutional Source

Beutler Lab

Gene Symbol

Lmo7

Ensembl Gene

ENSMUSG00000033060

Gene Name

LIM domain only 7

Synonyms

FBXO20, LOC380928

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R6246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101729957-101934710 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101918700 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1037 (D1037V)

Ref Sequence

ENSEMBL: ENSMUSP00000124349 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100337
AA Change: D1270V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060
AA Change: D1270V

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

noncoding transcript
Transcript: ENSMUST00000159154

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 damaging
Transcript: ENSMUST00000159314
AA Change: D1037V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124349
Gene: ENSMUSG00000033060
AA Change: D1037V

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: D1175V

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

SMART Domains

Protein: ENSMUSP00000123706
Gene: ENSMUSG00000033060
AA Change: D1175V

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: D759V

SMART Domains

Protein: ENSMUSP00000124300
Gene: ENSMUSG00000033060
AA Change: D759V

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (78/78)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	C	A	17: 23,710,491	G315*	probably null	Het
2410089E03Rik	T	A	15: 8,210,014	L1233H	probably damaging	Het
Abca7	T	A	10: 80,015,165	V2110E	probably damaging	Het
Acaca	C	A	11: 84,315,970	T1552K	probably benign	Het
AI314180	A	G	4: 58,811,365		probably null	Het
Aknad1	A	G	3: 108,751,832	D54G	probably damaging	Het
Ano1	T	C	7: 144,633,725	T435A	possibly damaging	Het
Azgp1	A	G	5: 137,985,213	D50G	possibly damaging	Het
Bbx	A	G	16: 50,224,660	S513P	probably benign	Het
Ccdc114	A	G	7: 45,936,364	I116V	probably damaging	Het
Ccdc129	A	T	6: 55,967,672	K459N	probably damaging	Het
Ccdc85a	C	T	11: 28,576,897	S209N	probably damaging	Het
Cdca2	T	A	14: 67,677,828	R661*	probably null	Het
Cdhr2	T	C	13: 54,719,710	V451A	probably damaging	Het
Cenpt	C	T	8: 105,849,259	G152S	possibly damaging	Het
Chd9	A	G	8: 90,932,417	T2A	probably damaging	Het
Chst14	G	A	2: 118,927,001	C117Y	probably damaging	Het
Cic	C	T	7: 25,271,642	T266M	probably damaging	Het
Clec12a	A	T	6: 129,353,770	N105I	possibly damaging	Het
Cmah	G	A	13: 24,466,790	V525M	probably damaging	Het
Cpt1a	T	C	19: 3,376,550	L572P	probably damaging	Het
Crybg2	T	C	4: 134,089,346	L1365P	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dlg1	G	A	16: 31,665,650	S32N	probably benign	Het
Dnah14	T	C	1: 181,680,888	I1877T	probably benign	Het
Duox1	G	T	2: 122,327,174	G594C	probably damaging	Het
Eci2	T	C	13: 34,990,198	N127D	probably damaging	Het
Fam57b	T	A	7: 126,827,496	F30L	probably damaging	Het
Fat4	T	C	3: 38,891,721	S1588P	probably damaging	Het
Fer1l4	T	A	2: 156,024,982	I1489F	probably damaging	Het
Flrt3	A	G	2: 140,659,801	Y636H	probably damaging	Het
Frmd5	T	A	2: 121,551,048	H62L	possibly damaging	Het
Gm6309	A	T	5: 146,170,240	Y99N	probably damaging	Het
Gm8225	T	C	17: 26,543,678	V281A	probably benign	Het
Grsf1	A	G	5: 88,662,592	L353P	possibly damaging	Het
Gtf2a1l	A	G	17: 88,671,547	R58G	probably benign	Het
Guf1	G	A	5: 69,558,555	G113R	probably damaging	Het
Hfe	A	T	13: 23,708,229	F51I	probably damaging	Het
Hibch	T	C	1: 52,904,642	S250P	probably damaging	Het
Il1rap	T	A	16: 26,714,881	M509K	probably benign	Het
Il4ra	T	C	7: 125,576,405	V595A	probably benign	Het
Ints11	A	G	4: 155,888,089	T460A	probably benign	Het
Kdm5a	G	A	6: 120,431,910	G1518E	probably damaging	Het
Khsrp	T	C	17: 57,025,324	D289G	possibly damaging	Het
Kif14	C	T	1: 136,476,424	Q29*	probably null	Het
Krt72	T	C	15: 101,780,937	K320R	probably damaging	Het
Lcmt2	A	G	2: 121,140,389	L71P	probably damaging	Het
Lpo	T	C	11: 87,822,232	T15A	unknown	Het
Mia3	G	T	1: 183,345,277	T7N	probably damaging	Het
Muc16	A	T	9: 18,577,067		probably null	Het
Mup9	T	A	4: 60,419,810	Y29F	probably damaging	Het
Nisch	T	C	14: 31,172,559	D1105G	probably damaging	Het
Oip5	T	C	2: 119,615,620	T136A	probably benign	Het
Olfr437	G	A	6: 43,167,502		probably null	Het
Osbpl10	C	A	9: 115,226,774	N532K	probably benign	Het
P2ry12	C	T	3: 59,217,529	V242I	probably benign	Het
Pdhx	A	T	2: 103,046,792	C26S	probably damaging	Het
Pgk2	A	T	17: 40,207,424	I371K	probably damaging	Het
Phyhip	T	C	14: 70,467,055	V238A	probably damaging	Het
Pla2g4a	G	A	1: 149,872,587	T282I	probably damaging	Het
Pld5	A	T	1: 175,963,909	C448*	probably null	Het
Plk1	T	A	7: 122,169,436	I553N	probably damaging	Het
Ppp1r13l	T	A	7: 19,369,858	I88K	probably benign	Het
Rad54l2	A	G	9: 106,700,493		probably null	Het
Sept7	A	G	9: 25,307,521	E428G	probably benign	Het
Serpina3j	G	A	12: 104,317,447	G268D	probably damaging	Het
Smc2	A	T	4: 52,460,289	D555V	probably damaging	Het
Spag16	A	T	1: 69,923,821	I376F	probably benign	Het
Spag6	G	A	2: 18,699,095		probably null	Het
Tecta	T	C	9: 42,377,908	I454V	probably benign	Het
Tm9sf1	C	T	14: 55,636,370	R557H	probably damaging	Het
Traf5	C	T	1: 192,070,553	E28K	probably damaging	Het
Trav23	G	A	14: 53,977,428	E33K	probably damaging	Het
Trim32	T	C	4: 65,614,564	S453P	probably damaging	Het
Tssk1	A	G	16: 17,895,439	T363A	probably benign	Het
Txnrd3	A	G	6: 89,651,541	N88S	probably benign	Het
Unc13b	A	G	4: 43,216,246	S182G	probably benign	Het
Vmn2r89	A	T	14: 51,456,046	R284S	probably damaging	Het
Zbtb14	A	G	17: 69,387,483	T59A	possibly damaging	Het
Zcchc2	T	A	1: 106,030,066	S756T	possibly damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	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
R2257:Lmo7	UTSW	14	101900130	missense	probably damaging	1.00
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
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'- CTTCCAGGACTAAAACTCTGATTGG -3'
(R):5'- TAACTGCTTGGTGCTATACAAGAG -3'

Sequencing Primer
(F):5'- CTCTGATTGGTCACATGAAAGAGTG -3'
(R):5'- CTGCTTGGTGCTATACAAGAGAAAAG -3'

Posted On

2018-02-28