Incidental Mutation 'IGL02631:Lmo2'
| ID |
301314 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmo2
|
| Ensembl Gene |
ENSMUSG00000032698 |
| Gene Name |
LIM domain only 2 |
| Synonyms |
Rbtn2, Rhom-2, Rbtn-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
103788340-103812223 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103811432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 155
(I155T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111139]
[ENSMUST00000111140]
[ENSMUST00000111143]
[ENSMUST00000123437]
[ENSMUST00000138815]
[ENSMUST00000170926]
[ENSMUST00000156813]
|
| AlphaFold |
P25801 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111139
AA Change: I155T
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106769
Gene: ENSMUSG00000032698
AA Change: I155T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
73 |
N/A |
INTRINSIC |
|
LIM
|
91 |
145 |
1.71e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111140
AA Change: I227T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106770
Gene: ENSMUSG00000032698
AA Change: I227T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
73 |
N/A |
INTRINSIC |
|
LIM
|
99 |
153 |
4.03e-10 |
SMART |
|
LIM
|
163 |
217 |
1.71e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111143
AA Change: I219T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106773
Gene: ENSMUSG00000032698
AA Change: I219T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
LIM
|
91 |
145 |
4.03e-10 |
SMART |
|
LIM
|
155 |
209 |
1.71e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123437
AA Change: I157T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117703
Gene: ENSMUSG00000032698
AA Change: I157T
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
83 |
4.03e-10 |
SMART |
|
LIM
|
93 |
147 |
1.71e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123966
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138815
|
| SMART Domains |
Protein: ENSMUSP00000121927
Gene: ENSMUSG00000032698
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIM
|
30 |
59 |
2.3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170926
AA Change: I157T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128317
Gene: ENSMUSG00000032698
AA Change: I157T
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
83 |
4.03e-10 |
SMART |
|
LIM
|
93 |
147 |
1.71e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156813
|
| SMART Domains |
Protein: ENSMUSP00000122369
Gene: ENSMUSG00000032698
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
83 |
4.03e-10 |
SMART |
|
LIM
|
93 |
144 |
1.36e-7 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit lack of yolk sac erythropoiesis and die around embryonic day 10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
A |
G |
6: 113,725,506 (GRCm39) |
S1242P |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,290,987 (GRCm39) |
Y81* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,893,277 (GRCm39) |
D160G |
possibly damaging |
Het |
| Cep97 |
A |
T |
16: 55,742,541 (GRCm39) |
C135* |
probably null |
Het |
| Cog1 |
C |
T |
11: 113,547,304 (GRCm39) |
Q633* |
probably null |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,609 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
A |
3: 103,063,387 (GRCm39) |
M608K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,859 (GRCm39) |
S855P |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,160,095 (GRCm39) |
I1457T |
probably damaging |
Het |
| Fam149b |
G |
A |
14: 20,425,614 (GRCm39) |
V300M |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,723 (GRCm39) |
L261Q |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,610,384 (GRCm39) |
S413* |
probably null |
Het |
| Flt3 |
T |
G |
5: 147,281,362 (GRCm39) |
D790A |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,276,152 (GRCm39) |
|
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,835 (GRCm39) |
K281R |
probably benign |
Het |
| Hoxa5 |
G |
A |
6: 52,180,790 (GRCm39) |
R181C |
probably damaging |
Het |
| Irx4 |
C |
T |
13: 73,416,596 (GRCm39) |
R331W |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,459,276 (GRCm39) |
R1944C |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,255 (GRCm39) |
N141S |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,599 (GRCm39) |
V143E |
possibly damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,786 (GRCm39) |
N294I |
probably damaging |
Het |
| Papss2 |
T |
A |
19: 32,611,404 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,990,533 (GRCm39) |
M915K |
possibly damaging |
Het |
| Raver2 |
A |
C |
4: 100,953,499 (GRCm39) |
D89A |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,379,644 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Slc25a12 |
C |
T |
2: 71,127,086 (GRCm39) |
G365E |
possibly damaging |
Het |
| Slc35e4 |
A |
C |
11: 3,857,729 (GRCm39) |
V292G |
probably damaging |
Het |
| Slc36a4 |
T |
C |
9: 15,638,237 (GRCm39) |
V221A |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,292,827 (GRCm39) |
A153S |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,991,204 (GRCm39) |
D658G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab3 |
A |
G |
X: 84,658,139 (GRCm39) |
N222S |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,937,110 (GRCm39) |
T1313S |
probably damaging |
Het |
| Tnfrsf1b |
A |
T |
4: 144,951,398 (GRCm39) |
C181S |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,239,972 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,729 (GRCm39) |
V526E |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,709,417 (GRCm39) |
D311G |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,959,912 (GRCm39) |
I507V |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,569,222 (GRCm39) |
D959A |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,992,026 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
G |
10: 12,585,807 (GRCm39) |
F990S |
probably benign |
Het |
| V1rd19 |
T |
C |
7: 23,702,825 (GRCm39) |
L97P |
probably damaging |
Het |
|
| Other mutations in Lmo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1983:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2013:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2014:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2132:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2133:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2233:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2235:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2510:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3038:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3813:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4058:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4059:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4448:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4450:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4544:Lmo2
|
UTSW |
2 |
103,806,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4805:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4808:Lmo2
|
UTSW |
2 |
103,811,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4975:Lmo2
|
UTSW |
2 |
103,806,488 (GRCm39) |
nonsense |
probably null |
|
|
R5310:Lmo2
|
UTSW |
2 |
103,806,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5823:Lmo2
|
UTSW |
2 |
103,811,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Lmo2
|
UTSW |
2 |
103,800,946 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6296:Lmo2
|
UTSW |
2 |
103,800,946 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6949:Lmo2
|
UTSW |
2 |
103,801,018 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R8051:Lmo2
|
UTSW |
2 |
103,801,045 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8719:Lmo2
|
UTSW |
2 |
103,811,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8746:Lmo2
|
UTSW |
2 |
103,806,384 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-04-16 |
Incidental Mutation