Incidental Mutation 'R4453:Limd1'
| ID |
329053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Limd1
|
| Ensembl Gene |
ENSMUSG00000025239 |
| Gene Name |
LIM domains containing 1 |
| Synonyms |
D9Ertd192e |
| MMRRC Submission |
041152-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R4453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123307771-123350617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123309359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 353
(Q353K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026269]
|
| AlphaFold |
Q9QXD8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026269
AA Change: Q353K
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026269
Gene: ENSMUSG00000025239
AA Change: Q353K
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
A |
G |
1: 93,322,075 (GRCm39) |
D361G |
probably damaging |
Het |
| Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
| Ccdc86 |
G |
T |
19: 10,925,883 (GRCm39) |
P239T |
probably damaging |
Het |
| Ces2h |
G |
A |
8: 105,741,288 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,379,190 (GRCm39) |
S43R |
probably damaging |
Het |
| Cpne6 |
G |
A |
14: 55,750,054 (GRCm39) |
V62M |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,642,664 (GRCm39) |
C161R |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,176,967 (GRCm39) |
S641P |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Grm2 |
G |
A |
9: 106,531,078 (GRCm39) |
T137I |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,027,324 (GRCm39) |
V327A |
possibly damaging |
Het |
| Helz |
C |
T |
11: 107,563,455 (GRCm39) |
Q1631* |
probably null |
Het |
| Hspa1a |
A |
G |
17: 35,189,269 (GRCm39) |
Y545H |
probably benign |
Het |
| Hus1 |
A |
T |
11: 8,956,035 (GRCm39) |
M166K |
probably damaging |
Het |
| Kcnh1 |
C |
A |
1: 192,187,825 (GRCm39) |
T762K |
probably damaging |
Het |
| Lipe |
T |
A |
7: 25,097,115 (GRCm39) |
K276I |
probably damaging |
Het |
| Ntpcr |
G |
A |
8: 126,462,929 (GRCm39) |
V49I |
probably benign |
Het |
| Or6c70 |
T |
C |
10: 129,710,530 (GRCm39) |
N32S |
probably null |
Het |
| Ppp1r1c |
A |
G |
2: 79,538,575 (GRCm39) |
I20V |
possibly damaging |
Het |
| Prdm13 |
G |
T |
4: 21,679,464 (GRCm39) |
A342E |
unknown |
Het |
| Prkd3 |
C |
A |
17: 79,290,975 (GRCm39) |
R180L |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,099,274 (GRCm39) |
F1593L |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,155,603 (GRCm39) |
C95S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,272 (GRCm39) |
M1510V |
probably benign |
Het |
| Taf12 |
A |
G |
4: 132,010,306 (GRCm39) |
I92V |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
G |
A |
15: 76,258,743 (GRCm39) |
R48C |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,482,680 (GRCm39) |
|
probably null |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,382,678 (GRCm39) |
T552S |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
probably benign |
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 |
|
|
R2299:Limd1
|
UTSW |
9 |
123,345,942 (GRCm39) |
nonsense |
probably null |
|
|
R3791:Limd1
|
UTSW |
9 |
123,309,439 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- TCCATGGGCTTGGAGAATGG -3'
(R):5'- AGCACAGGTTCCAGACTACTG -3'
Sequencing Primer
(F):5'- AACTGTTTCAGCACCGATGG -3'
(R):5'- ACAGGTTCCAGACTACTGTCAGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation