Incidental Mutation 'IGL00953:Limd1'
ID |
28215 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Limd1
|
Ensembl Gene |
ENSMUSG00000025239 |
Gene Name |
LIM domains containing 1 |
Synonyms |
D9Ertd192e |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
IGL00953
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
123307771-123350617 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 123308948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 216
(S216T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026269
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026269]
|
AlphaFold |
Q9QXD8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026269
AA Change: S216T
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000026269 Gene: ENSMUSG00000025239 AA Change: S216T
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
67 |
N/A |
INTRINSIC |
low complexity region
|
238 |
252 |
N/A |
INTRINSIC |
LIM
|
463 |
516 |
2.17e-15 |
SMART |
LIM
|
528 |
580 |
9.6e-17 |
SMART |
LIM
|
588 |
649 |
2.26e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216352
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217639
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal basal bone osteoclast numbers and bone density but are resistant to physiological and pathologic osteoclastogenic stimuli. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,902,047 (GRCm39) |
E726G |
probably benign |
Het |
Cdyl2 |
T |
A |
8: 117,321,928 (GRCm39) |
|
probably benign |
Het |
Cep41 |
T |
C |
6: 30,660,966 (GRCm39) |
T109A |
probably benign |
Het |
Clca3b |
C |
T |
3: 144,552,972 (GRCm39) |
W84* |
probably null |
Het |
Cyp27b1 |
A |
G |
10: 126,885,551 (GRCm39) |
D130G |
probably benign |
Het |
Cyp2f2 |
T |
C |
7: 26,829,242 (GRCm39) |
V249A |
possibly damaging |
Het |
Cyth3 |
G |
A |
5: 143,692,920 (GRCm39) |
|
probably null |
Het |
Dnah8 |
G |
T |
17: 30,925,431 (GRCm39) |
E1289* |
probably null |
Het |
Fam171a1 |
A |
T |
2: 3,179,327 (GRCm39) |
D51V |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,488,896 (GRCm39) |
R107G |
possibly damaging |
Het |
Gemin6 |
T |
C |
17: 80,535,294 (GRCm39) |
F85L |
possibly damaging |
Het |
Hivep3 |
A |
C |
4: 119,955,571 (GRCm39) |
T1296P |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Htt |
T |
A |
5: 34,976,021 (GRCm39) |
S670T |
probably benign |
Het |
Klhl24 |
A |
T |
16: 19,941,717 (GRCm39) |
N555I |
possibly damaging |
Het |
Lmf2 |
A |
T |
15: 89,238,102 (GRCm39) |
I234N |
probably damaging |
Het |
Mrpl4 |
C |
A |
9: 20,919,863 (GRCm39) |
D271E |
probably benign |
Het |
Mydgf |
C |
T |
17: 56,486,407 (GRCm39) |
G75R |
probably damaging |
Het |
Nat1 |
A |
G |
8: 67,943,630 (GRCm39) |
D5G |
possibly damaging |
Het |
Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
Or5h22 |
A |
T |
16: 58,895,052 (GRCm39) |
Y130* |
probably null |
Het |
Or5k15 |
A |
C |
16: 58,710,048 (GRCm39) |
H178Q |
probably damaging |
Het |
Pla2g4c |
T |
A |
7: 13,077,951 (GRCm39) |
M363K |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,480,329 (GRCm39) |
F137S |
probably damaging |
Het |
Rbm12b1 |
A |
G |
4: 12,146,038 (GRCm39) |
D670G |
probably damaging |
Het |
Rrp12 |
C |
A |
19: 41,860,231 (GRCm39) |
M997I |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,327,736 (GRCm39) |
V918A |
probably benign |
Het |
Slc35g2 |
A |
G |
9: 100,434,516 (GRCm39) |
V385A |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,590,739 (GRCm39) |
I1311N |
probably damaging |
Het |
Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
Ucp2 |
A |
G |
7: 100,147,629 (GRCm39) |
T203A |
probably benign |
Het |
Upk1b |
C |
T |
16: 38,600,347 (GRCm39) |
G211D |
possibly damaging |
Het |
Vmn1r220 |
A |
T |
13: 23,367,935 (GRCm39) |
F254I |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,965,638 (GRCm39) |
F314S |
probably damaging |
Het |
|
Other mutations in Limd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00972:Limd1
|
APN |
9 |
123,309,141 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01815:Limd1
|
APN |
9 |
123,308,801 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02598:Limd1
|
APN |
9 |
123,309,236 (GRCm39) |
missense |
probably benign |
|
IGL02598:Limd1
|
APN |
9 |
123,345,933 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02633:Limd1
|
APN |
9 |
123,308,987 (GRCm39) |
unclassified |
probably benign |
|
IGL02999:Limd1
|
APN |
9 |
123,345,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R0314:Limd1
|
UTSW |
9 |
123,345,892 (GRCm39) |
missense |
probably benign |
0.04 |
R1612:Limd1
|
UTSW |
9 |
123,347,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R2009:Limd1
|
UTSW |
9 |
123,308,564 (GRCm39) |
missense |
probably benign |
|
R2299:Limd1
|
UTSW |
9 |
123,345,942 (GRCm39) |
nonsense |
probably null |
|
R3791:Limd1
|
UTSW |
9 |
123,309,439 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4453:Limd1
|
UTSW |
9 |
123,309,359 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5979:Limd1
|
UTSW |
9 |
123,308,479 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7493:Limd1
|
UTSW |
9 |
123,308,748 (GRCm39) |
missense |
probably benign |
0.00 |
R8101:Limd1
|
UTSW |
9 |
123,329,216 (GRCm39) |
nonsense |
probably null |
|
R8332:Limd1
|
UTSW |
9 |
123,308,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R9060:Limd1
|
UTSW |
9 |
123,309,514 (GRCm39) |
missense |
probably benign |
0.08 |
R9679:Limd1
|
UTSW |
9 |
123,308,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R9681:Limd1
|
UTSW |
9 |
123,345,903 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9726:Limd1
|
UTSW |
9 |
123,308,984 (GRCm39) |
missense |
probably benign |
0.00 |
X0028:Limd1
|
UTSW |
9 |
123,345,927 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Limd1
|
UTSW |
9 |
123,309,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-04-17 |