Incidental Mutation 'R2299:Limd1'
| ID |
245270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Limd1
|
| Ensembl Gene |
ENSMUSG00000025239 |
| Gene Name |
LIM domains containing 1 |
| Synonyms |
D9Ertd192e |
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123307771-123350617 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 123345942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 574
(K574*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026269]
|
| AlphaFold |
Q9QXD8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026269
AA Change: K574*
|
| SMART Domains |
Protein: ENSMUSP00000026269
Gene: ENSMUSG00000025239
AA Change: K574*
| 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: ENSMUST00000213278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214309
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216352
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217639
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
| 5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
probably damaging |
Het |
|
| Other mutations in Limd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Limd1
|
APN |
9 |
123,308,948 (GRCm39) |
missense |
probably benign |
0.31 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTACAGGTGAAACTCTGGG -3'
(R):5'- GCCACAGGCTTGTTGAATTC -3'
Sequencing Primer
(F):5'- AGGTGTGCATTAGGCTCCTCAAC -3'
(R):5'- ACAGGCTTGTTGAATTCCTCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation