Incidental Mutation 'R1245:Lmcd1'
| ID |
152123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmcd1
|
| Ensembl Gene |
ENSMUSG00000057604 |
| Gene Name |
LIM and cysteine-rich domains 1 |
| Synonyms |
dyxin |
| MMRRC Submission |
039312-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
112250747-112307384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112292673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 175
(V175E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032376]
|
| AlphaFold |
Q8VEE1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032376
AA Change: V175E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: V175E
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
| Validation Efficiency |
98% (41/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,119,410 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
| Cblb |
C |
A |
16: 51,867,550 (GRCm39) |
|
probably benign |
Het |
| Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
| Col6a6 |
G |
A |
9: 105,626,109 (GRCm39) |
R1515C |
possibly damaging |
Het |
| Csf1r |
C |
A |
18: 61,247,884 (GRCm39) |
D317E |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,091,803 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
G |
A |
10: 24,660,851 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm5828 |
A |
T |
1: 16,839,353 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr137c |
T |
C |
14: 45,516,522 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,602,795 (GRCm39) |
|
probably null |
Het |
| Kctd7 |
A |
G |
5: 130,177,058 (GRCm39) |
H96R |
possibly damaging |
Het |
| Lrfn2 |
A |
T |
17: 49,403,277 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
C |
T |
17: 75,634,189 (GRCm39) |
|
probably benign |
Het |
| Myc |
A |
G |
15: 61,859,746 (GRCm39) |
I140V |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,364,352 (GRCm39) |
E100G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,174,705 (GRCm39) |
N143S |
probably benign |
Het |
| Nmnat2 |
A |
G |
1: 152,987,949 (GRCm39) |
D238G |
probably benign |
Het |
| Or10ag57 |
T |
A |
2: 87,218,553 (GRCm39) |
V168E |
probably benign |
Het |
| Ppp2r3d |
G |
A |
9: 101,071,593 (GRCm39) |
T675I |
probably damaging |
Het |
| Psma2 |
A |
G |
13: 14,787,876 (GRCm39) |
Y6C |
probably damaging |
Het |
| Rspo4 |
G |
A |
2: 151,709,846 (GRCm39) |
E84K |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,965,457 (GRCm39) |
V1015I |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,974,436 (GRCm39) |
D632G |
possibly damaging |
Het |
| Sppl2a |
A |
T |
2: 126,755,441 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,066,427 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,776,044 (GRCm39) |
K1666M |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,937,206 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
G |
1: 66,594,254 (GRCm39) |
D1211G |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,228 (GRCm39) |
Q302R |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Wnk1 |
C |
T |
6: 119,925,418 (GRCm39) |
V1847I |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,967,718 (GRCm39) |
I529N |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,807,104 (GRCm39) |
S99P |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,550,508 (GRCm39) |
|
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,996,984 (GRCm39) |
T246A |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTATGACCATGAGCAACAGCCAC -3'
(R):5'- TTTAGCCAGACCAGAGACAGGGAC -3'
Sequencing Primer
(F):5'- ACGTGACATAGTCTCTTCCAC -3'
(R):5'- TTTGGATGGATCACCCAGGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation