Incidental Mutation 'R5737:Lmo7'
ID | 444595 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmo7
|
Ensembl Gene |
ENSMUSG00000033060 |
Gene Name | LIM domain only 7 |
Synonyms | FBXO20, LOC380928 |
MMRRC Submission |
043195-MU
|
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.233)
|
Stock # | R5737 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 14 |
Chromosomal Location | 101729957-101934710 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to G
at 101887236 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 266
(I266S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100337]
[ENSMUST00000159026]
[ENSMUST00000159258]
[ENSMUST00000159314]
[ENSMUST00000159597]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100337
AA Change: I499S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097910 Gene: ENSMUSG00000033060 AA Change: I499S
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 damaging
Transcript: ENSMUST00000159026
AA Change: I266S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124605 Gene: ENSMUSG00000033060 AA Change: I266S
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 damaging
Transcript: ENSMUST00000159258
AA Change: I266S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125465 Gene: ENSMUSG00000033060 AA Change: I266S
Domain | Start | End | E-Value | Type |
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159314
AA Change: I266S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124349 Gene: ENSMUSG00000033060 AA Change: I266S
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: I377S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123706 Gene: ENSMUSG00000033060 AA Change: I377S
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 |
noncoding transcript
Transcript: ENSMUST00000159797
|
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: ENSMUST00000159812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159948
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160876
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161668
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162091
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
G |
13: 54,559,242 |
V78A |
probably damaging |
Het |
5830473C10Rik |
G |
T |
5: 90,572,783 |
C271F |
probably damaging |
Het |
Aldh1l2 |
T |
A |
10: 83,520,325 |
D67V |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,732,274 |
D253E |
probably damaging |
Het |
Arhgap42 |
T |
C |
9: 9,059,068 |
K159R |
probably damaging |
Het |
Atrnl1 |
C |
T |
19: 57,777,888 |
A1219V |
possibly damaging |
Het |
Cacna1c |
C |
T |
6: 118,741,932 |
V386I |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,526,747 |
T1015A |
possibly damaging |
Het |
Cadps2 |
T |
C |
6: 23,328,805 |
M999V |
probably benign |
Het |
Ccer1 |
A |
T |
10: 97,694,684 |
H403L |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,388,891 |
I1433N |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,460,985 |
V531A |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,192,390 |
V175A |
probably benign |
Het |
Dnah3 |
T |
C |
7: 120,059,198 |
K920R |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,748,568 |
D2585N |
probably benign |
Het |
Dscaml1 |
C |
T |
9: 45,745,185 |
R1608C |
probably damaging |
Het |
Gtf3c2 |
A |
G |
5: 31,168,249 |
|
probably null |
Het |
Heca |
A |
T |
10: 17,915,714 |
M198K |
possibly damaging |
Het |
Igkv8-24 |
A |
T |
6: 70,217,138 |
S29T |
probably benign |
Het |
Lipo2 |
A |
C |
19: 33,721,696 |
N311K |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,161,854 |
E558V |
probably benign |
Het |
Nelfa |
T |
A |
5: 33,899,113 |
|
probably null |
Het |
Phka2 |
ACC |
AC |
X: 160,559,866 |
|
probably null |
Het |
Psmg2 |
T |
C |
18: 67,646,037 |
S92P |
possibly damaging |
Het |
Rasa2 |
C |
T |
9: 96,570,665 |
|
probably null |
Het |
Slc6a3 |
A |
C |
13: 73,544,804 |
N181T |
probably damaging |
Het |
Smim4 |
A |
G |
14: 31,128,719 |
I22T |
probably benign |
Het |
Tdrd5 |
A |
G |
1: 156,300,724 |
M136T |
probably benign |
Het |
Tmem178b |
A |
C |
6: 40,245,641 |
M97L |
possibly damaging |
Het |
Tnfaip8l1 |
A |
G |
17: 56,171,950 |
D80G |
probably benign |
Het |
Tomt |
T |
C |
7: 101,900,317 |
T255A |
probably benign |
Het |
Vmn2r26 |
G |
T |
6: 124,039,449 |
V291F |
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 |
splice site |
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 |
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 |
R8095:Lmo7
|
UTSW |
14 |
101887419 |
missense |
possibly damaging |
0.88 |
R8100:Lmo7
|
UTSW |
14 |
101900463 |
missense |
probably benign |
0.33 |
R8121:Lmo7
|
UTSW |
14 |
101926300 |
missense |
unknown |
|
R8308:Lmo7
|
UTSW |
14 |
101902371 |
critical splice donor site |
probably null |
|
R8371:Lmo7
|
UTSW |
14 |
101887008 |
missense |
possibly damaging |
0.95 |
R8403:Lmo7
|
UTSW |
14 |
101902364 |
missense |
probably benign |
0.03 |
X0066:Lmo7
|
UTSW |
14 |
101887461 |
missense |
probably damaging |
1.00 |
X0067:Lmo7
|
UTSW |
14 |
101886933 |
splice site |
probably null |
|
Z1176:Lmo7
|
UTSW |
14 |
101884306 |
missense |
probably damaging |
0.99 |
Z1176:Lmo7
|
UTSW |
14 |
101919281 |
missense |
probably benign |
0.00 |
Z1176:Lmo7
|
UTSW |
14 |
101919443 |
missense |
unknown |
|
Z1176:Lmo7
|
UTSW |
14 |
101929228 |
missense |
unknown |
|
Z1177:Lmo7
|
UTSW |
14 |
101896518 |
missense |
possibly damaging |
0.96 |
Z1177:Lmo7
|
UTSW |
14 |
101898557 |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATAACTCGCAGGAAGAATCG -3'
(R):5'- TGTCCTTTCGAGCACAGAGAG -3'
Sequencing Primer
(F):5'- TCGCAGGAAGAATCGCTCTC -3'
(R):5'- CAGAGAGAAACTTCGCTTGGATTTC -3'
|
Posted On | 2016-11-21 |