Incidental Mutation 'R1338:Lmcd1'
| ID |
156938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmcd1
|
| Ensembl Gene |
ENSMUSG00000057604 |
| Gene Name |
LIM and cysteine-rich domains 1 |
| Synonyms |
dyxin |
| MMRRC Submission |
039403-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1338 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
112250747-112307384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 112282089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 41
(H41P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032376]
|
| AlphaFold |
Q8VEE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032376
AA Change: H41P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: H41P
| 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 |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 88.5%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
G |
T |
10: 4,263,773 (GRCm39) |
V61F |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,888,829 (GRCm39) |
D459E |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,106,684 (GRCm39) |
H5005Y |
unknown |
Het |
| Brdt |
C |
A |
5: 107,498,054 (GRCm39) |
P243Q |
probably benign |
Het |
| C5ar1 |
A |
C |
7: 15,982,260 (GRCm39) |
F253L |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,078,965 (GRCm39) |
V323G |
probably benign |
Het |
| Col11a1 |
A |
T |
3: 114,010,644 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,836,387 (GRCm39) |
Y4039F |
probably benign |
Het |
| Or9s18 |
T |
C |
13: 65,300,197 (GRCm39) |
L53P |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,117,710 (GRCm39) |
T23A |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,582,943 (GRCm39) |
E683V |
probably benign |
Het |
| Pck1 |
G |
A |
2: 173,000,203 (GRCm39) |
E545K |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,390,120 (GRCm39) |
V1412A |
probably damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,064 (GRCm39) |
V363A |
probably damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,998,118 (GRCm39) |
S171P |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,870,158 (GRCm39) |
K600R |
possibly damaging |
Het |
| Slc7a1 |
C |
T |
5: 148,282,746 (GRCm39) |
E34K |
probably damaging |
Het |
| Spata31d1b |
AGGG |
AGG |
13: 59,865,975 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,663,155 (GRCm39) |
N317I |
probably benign |
Het |
| Zan |
A |
T |
5: 137,391,913 (GRCm39) |
C4627* |
probably null |
Het |
| Zfhx4 |
T |
C |
3: 5,462,021 (GRCm39) |
V1232A |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCCAGTAAACAGTGAGTGGCAG -3'
(R):5'- TAATCCGCGCTGGACCAGAAAG -3'
Sequencing Primer
(F):5'- TGATCAGGAGCCCTTTGAGC -3'
(R):5'- GAAAGCATCTACCTTGACATGG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation