Incidental Mutation 'R6972:Lmcd1'
ID |
568326 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmcd1
|
Ensembl Gene |
ENSMUSG00000057604 |
Gene Name |
LIM and cysteine-rich domains 1 |
Synonyms |
dyxin |
MMRRC Submission |
045082-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6972 (G1)
|
Quality Score |
78.0075 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
112250747-112307384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 112287659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 115
(T115I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032376
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032376]
|
AlphaFold |
Q8VEE1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032376
AA Change: T115I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032376 Gene: ENSMUSG00000057604 AA Change: T115I
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: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.8%
|
Validation Efficiency |
100% (41/41) |
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 |
Abhd2 |
A |
G |
7: 79,003,775 (GRCm39) |
S285G |
probably benign |
Het |
Afg1l |
T |
C |
10: 42,354,370 (GRCm39) |
T10A |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
Bdp1 |
T |
C |
13: 100,174,269 (GRCm39) |
E2089G |
probably null |
Het |
Calcrl |
T |
G |
2: 84,198,922 (GRCm39) |
I156L |
probably benign |
Het |
Cd69 |
T |
C |
6: 129,246,543 (GRCm39) |
S122G |
probably benign |
Het |
Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
A |
2: 91,436,658 (GRCm39) |
I1586K |
probably damaging |
Het |
Cyp4f14 |
C |
T |
17: 33,124,483 (GRCm39) |
A523T |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,723,971 (GRCm39) |
C466* |
probably null |
Het |
Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,842,439 (GRCm39) |
I220V |
probably benign |
Het |
Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
Fuz |
T |
C |
7: 44,546,755 (GRCm39) |
|
probably benign |
Het |
Git1 |
T |
G |
11: 77,390,347 (GRCm39) |
V64G |
probably damaging |
Het |
Gpr162 |
C |
T |
6: 124,838,272 (GRCm39) |
R126H |
probably damaging |
Het |
Grm5 |
T |
C |
7: 87,252,131 (GRCm39) |
V127A |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,653,750 (GRCm39) |
D665G |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 191,959,144 (GRCm39) |
I233V |
probably damaging |
Het |
Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
Or2ag16 |
A |
G |
7: 106,351,906 (GRCm39) |
S230P |
possibly damaging |
Het |
Orc4 |
T |
C |
2: 48,817,196 (GRCm39) |
Q164R |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,582,745 (GRCm39) |
V617E |
probably damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Plscr3 |
G |
A |
11: 69,738,784 (GRCm39) |
E149K |
probably damaging |
Het |
Pltp |
A |
G |
2: 164,688,512 (GRCm39) |
|
probably null |
Het |
Pramel11 |
A |
G |
4: 143,623,472 (GRCm39) |
L234P |
probably damaging |
Het |
Prg2 |
G |
A |
2: 84,812,617 (GRCm39) |
R109H |
probably benign |
Het |
Ptprj |
G |
A |
2: 90,410,747 (GRCm39) |
S62F |
possibly damaging |
Het |
Resf1 |
T |
A |
6: 149,227,607 (GRCm39) |
Y218N |
probably damaging |
Het |
Skint3 |
T |
A |
4: 112,116,089 (GRCm39) |
S240T |
probably damaging |
Het |
Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,946,404 (GRCm39) |
V409A |
possibly damaging |
Het |
Tafa2 |
A |
G |
10: 123,540,278 (GRCm39) |
T45A |
probably benign |
Het |
Trim29 |
T |
A |
9: 43,238,409 (GRCm39) |
N504K |
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,452,202 (GRCm39) |
Y461H |
probably damaging |
Het |
Zeb2 |
T |
C |
2: 44,887,330 (GRCm39) |
K531E |
probably damaging |
Het |
Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
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 |
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 |
|
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'- AGGATGGTCTCACTTGCTTCC -3'
(R):5'- TGCTTCATCATTACCTGAGCCAG -3'
Sequencing Primer
(F):5'- GCAAGTCTTGTAAATGCAGCC -3'
(R):5'- CTGAGCCAGGAGTAGAGCTG -3'
|
Posted On |
2019-07-01 |