Incidental Mutation 'IGL00963:Lmcd1'
| ID |
27685 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmcd1
|
| Ensembl Gene |
ENSMUSG00000057604 |
| Gene Name |
LIM and cysteine-rich domains 1 |
| Synonyms |
dyxin |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
112250747-112307384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112306895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 356
(C356R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032376]
|
| AlphaFold |
Q8VEE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032376
AA Change: C356R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: C356R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PET
|
107 |
201 |
4.9e-39 |
PFAM |
|
LIM
|
242 |
299 |
7.29e-8 |
SMART |
|
LIM
|
307 |
359 |
1.97e-13 |
SMART |
|
| 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 member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI606181 |
A |
C |
19: 41,582,228 (GRCm39) |
|
probably benign |
Het |
| Alyref2 |
C |
T |
1: 171,331,816 (GRCm39) |
Q198* |
probably null |
Het |
| Ankrd13a |
T |
C |
5: 114,939,863 (GRCm39) |
S497P |
probably damaging |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,674,476 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 64,781,728 (GRCm39) |
D730E |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,296,035 (GRCm39) |
Q1197R |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,926,083 (GRCm39) |
I1224N |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,245,043 (GRCm39) |
K42R |
probably null |
Het |
| Engase |
A |
G |
11: 118,373,824 (GRCm39) |
D322G |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,386,262 (GRCm39) |
D829G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,830,491 (GRCm39) |
M47I |
probably damaging |
Het |
| Gad1-ps |
G |
T |
10: 99,281,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gatb |
A |
G |
3: 85,526,255 (GRCm39) |
S378G |
probably benign |
Het |
| Hivep2 |
G |
A |
10: 14,005,091 (GRCm39) |
S563N |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,055,867 (GRCm39) |
A855V |
probably benign |
Het |
| Jagn1 |
T |
C |
6: 113,424,436 (GRCm39) |
S103P |
probably damaging |
Het |
| Kdm6a |
T |
A |
X: 18,112,665 (GRCm39) |
|
probably benign |
Het |
| Mefv |
T |
A |
16: 3,533,584 (GRCm39) |
Y229F |
possibly damaging |
Het |
| Myef2 |
T |
C |
2: 124,957,395 (GRCm39) |
Y120C |
probably damaging |
Het |
| Myo9a |
T |
G |
9: 59,807,655 (GRCm39) |
I2074S |
probably damaging |
Het |
| Nhs |
A |
G |
X: 160,630,045 (GRCm39) |
S337P |
probably damaging |
Het |
| Nphp4 |
T |
G |
4: 152,622,318 (GRCm39) |
H566Q |
probably benign |
Het |
| Or2d2 |
A |
T |
7: 106,728,272 (GRCm39) |
C109* |
probably null |
Het |
| Or52z13 |
T |
A |
7: 103,246,844 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
C |
A |
18: 39,908,390 (GRCm39) |
Q552K |
possibly damaging |
Het |
| Podn |
T |
A |
4: 107,879,371 (GRCm39) |
N104I |
probably damaging |
Het |
| Rit1 |
T |
C |
3: 88,633,738 (GRCm39) |
V94A |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,534,289 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
A |
T |
11: 87,474,199 (GRCm39) |
K29M |
possibly damaging |
Het |
| Sowahb |
T |
C |
5: 93,191,870 (GRCm39) |
Y283C |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,422,637 (GRCm39) |
W460R |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,072,791 (GRCm39) |
K2173* |
probably null |
Het |
| Tlr6 |
T |
C |
5: 65,112,019 (GRCm39) |
N296S |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,307,549 (GRCm39) |
D1073G |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,434,255 (GRCm39) |
K2399* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,717,627 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
C |
T |
6: 90,315,810 (GRCm39) |
T189I |
probably benign |
Het |
| Usp18 |
C |
T |
6: 121,232,341 (GRCm39) |
Q122* |
probably null |
Het |
| Zfp420 |
T |
C |
7: 29,574,518 (GRCm39) |
I246T |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,786,503 (GRCm39) |
|
probably null |
Het |
| Zfp871 |
A |
T |
17: 32,993,726 (GRCm39) |
V483E |
probably benign |
Het |
|
| Other mutations in Lmcd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Lmcd1
|
APN |
6 |
112,306,769 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01339:Lmcd1
|
APN |
6 |
112,287,586 (GRCm39) |
missense |
probably benign |
|
|
IGL01373:Lmcd1
|
APN |
6 |
112,287,586 (GRCm39) |
missense |
probably benign |
|
|
IGL03088:Lmcd1
|
APN |
6 |
112,287,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Lmcd1
|
APN |
6 |
112,287,460 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0940:Lmcd1
|
UTSW |
6 |
112,305,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1144:Lmcd1
|
UTSW |
6 |
112,287,712 (GRCm39) |
splice site |
probably benign |
|
|
R1245:Lmcd1
|
UTSW |
6 |
112,292,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1338:Lmcd1
|
UTSW |
6 |
112,282,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Lmcd1
|
UTSW |
6 |
112,287,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1615:Lmcd1
|
UTSW |
6 |
112,250,911 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1748:Lmcd1
|
UTSW |
6 |
112,306,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1793:Lmcd1
|
UTSW |
6 |
112,305,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2014:Lmcd1
|
UTSW |
6 |
112,305,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Lmcd1
|
UTSW |
6 |
112,292,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4322:Lmcd1
|
UTSW |
6 |
112,292,724 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4344:Lmcd1
|
UTSW |
6 |
112,264,968 (GRCm39) |
intron |
probably benign |
|
|
R4771:Lmcd1
|
UTSW |
6 |
112,292,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Lmcd1
|
UTSW |
6 |
112,264,832 (GRCm39) |
intron |
probably benign |
|
|
R5256:Lmcd1
|
UTSW |
6 |
112,265,087 (GRCm39) |
intron |
probably benign |
|
|
R5296:Lmcd1
|
UTSW |
6 |
112,292,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6453:Lmcd1
|
UTSW |
6 |
112,292,789 (GRCm39) |
missense |
probably benign |
|
|
R6972:Lmcd1
|
UTSW |
6 |
112,287,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Lmcd1
|
UTSW |
6 |
112,292,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7278:Lmcd1
|
UTSW |
6 |
112,287,500 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8819:Lmcd1
|
UTSW |
6 |
112,306,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8820:Lmcd1
|
UTSW |
6 |
112,306,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Lmcd1
|
UTSW |
6 |
112,306,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Lmcd1
|
UTSW |
6 |
112,306,785 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1177:Lmcd1
|
UTSW |
6 |
112,287,637 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Lmcd1
|
UTSW |
6 |
112,287,635 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Posted On |
2013-04-17 |
Incidental Mutation