Incidental Mutation 'R4344:Lmcd1'
ID |
324262 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmcd1
|
Ensembl Gene |
ENSMUSG00000057604 |
Gene Name |
LIM and cysteine-rich domains 1 |
Synonyms |
dyxin |
MMRRC Submission |
041101-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4344 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
112250747-112307384 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 112264968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032376
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032376]
|
AlphaFold |
Q8VEE1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032376
|
SMART Domains |
Protein: ENSMUSP00000032376 Gene: ENSMUSG00000057604
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000053559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188014
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (39/40) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
G |
T |
1: 25,865,829 (GRCm39) |
R5S |
possibly damaging |
Het |
Ccdc168 |
G |
A |
1: 44,100,151 (GRCm39) |
L316F |
possibly damaging |
Het |
Ccdc187 |
T |
A |
2: 26,170,681 (GRCm39) |
K599I |
probably damaging |
Het |
Ccn5 |
G |
A |
2: 163,670,906 (GRCm39) |
V138M |
probably damaging |
Het |
Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
Ces2a |
T |
G |
8: 105,463,766 (GRCm39) |
D159E |
probably damaging |
Het |
Dcc |
G |
A |
18: 71,507,561 (GRCm39) |
A917V |
probably damaging |
Het |
Dennd6b |
G |
A |
15: 89,072,866 (GRCm39) |
A196V |
probably benign |
Het |
Dlgap3 |
T |
C |
4: 127,108,141 (GRCm39) |
S475P |
possibly damaging |
Het |
Doc2a |
C |
T |
7: 126,450,321 (GRCm39) |
P156S |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,445,722 (GRCm39) |
|
probably null |
Het |
Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Klk1b8 |
C |
A |
7: 43,595,186 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,873,051 (GRCm39) |
I2750K |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,590,666 (GRCm39) |
N2958S |
possibly damaging |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Ppp1r16b |
G |
A |
2: 158,591,106 (GRCm39) |
V163I |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,585,886 (GRCm39) |
W2475R |
probably damaging |
Het |
Rad54l |
C |
T |
4: 115,954,551 (GRCm39) |
C684Y |
probably damaging |
Het |
Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
Rasef |
T |
A |
4: 73,663,326 (GRCm39) |
H167L |
probably damaging |
Het |
Sh3bp2 |
T |
C |
5: 34,712,886 (GRCm39) |
F165L |
possibly damaging |
Het |
Slc38a9 |
T |
C |
13: 112,865,749 (GRCm39) |
I482T |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
Ttc39c |
T |
A |
18: 12,861,667 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
Vmn2r22 |
C |
T |
6: 123,614,756 (GRCm39) |
G278D |
probably damaging |
Het |
Yme1l1 |
G |
A |
2: 23,063,073 (GRCm39) |
A215T |
probably benign |
Het |
Zmynd15 |
C |
T |
11: 70,351,894 (GRCm39) |
R38* |
probably null |
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 |
IGL00963:Lmcd1
|
APN |
6 |
112,306,895 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCTTCAGAGTGGTCCAGG -3'
(R):5'- TGGCTCATCAATGTAAAGGCC -3'
Sequencing Primer
(F):5'- TTCAGAGTGGTCCAGGGACATC -3'
(R):5'- GCTCATCAATGTAAAGGCCTATGAG -3'
|
Posted On |
2015-06-24 |