Incidental Mutation 'RF032:Lmx1b'
| ID |
604395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmx1b
|
| Ensembl Gene |
ENSMUSG00000038765 |
| Gene Name |
LIM homeobox transcription factor 1 beta |
| Synonyms |
GENA 191, LMX1.2, Icst |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
RF032 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
33450977-33530620 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA to TACATCTTGATGCCGTCCA
at 33530501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041730]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041730
|
| SMART Domains |
Protein: ENSMUSP00000043616
Gene: ENSMUSG00000038765
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
32 |
83 |
4.48e-17 |
SMART |
|
LIM
|
91 |
145 |
5.51e-17 |
SMART |
|
low complexity region
|
151 |
172 |
N/A |
INTRINSIC |
|
HOX
|
196 |
258 |
1.51e-21 |
SMART |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
340 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176067
|
| SMART Domains |
Protein: ENSMUSP00000134944
Gene: ENSMUSG00000038765
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
1 |
38 |
2.23e-3 |
SMART |
|
LIM
|
46 |
100 |
5.51e-17 |
SMART |
|
low complexity region
|
106 |
127 |
N/A |
INTRINSIC |
|
HOX
|
151 |
213 |
1.51e-21 |
SMART |
|
low complexity region
|
214 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
302 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit various skeletal, kidney, and eye defects. Pups also fail to suckle. Heterozygous mice with a homeodomain V265D mutation exhibit a variety of eye defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
TACCT |
TACCTGACCT |
17: 24,506,701 (GRCm39) |
|
probably null |
Het |
| Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,989,559 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGTCG |
17: 5,045,863 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,162,678 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,302 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCCGTGG |
19: 47,129,722 (GRCm39) |
|
probably null |
Het |
| Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,560,341 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,466,607 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,602,083 (GRCm39) |
|
probably benign |
Het |
| Enah |
TGGCGGTGG |
TG |
1: 181,749,494 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| H2-T10 |
TTTCCCACTGTA |
T |
17: 36,431,186 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,562,723 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCACCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
G |
GGAGA |
6: 139,612,656 (GRCm39) |
|
probably null |
Het |
| Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,551,598 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
| Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 124,996,130 (GRCm39) |
|
probably benign |
Het |
| Smpx |
CCCCCCA |
C |
X: 156,503,919 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,635,087 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,851,236 (GRCm39) |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 115,016,069 (GRCm39) |
L320F |
probably damaging |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lmx1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01539:Lmx1b
|
APN |
2 |
33,529,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01583:Lmx1b
|
APN |
2 |
33,459,071 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02885:Lmx1b
|
APN |
2 |
33,457,216 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1926:Lmx1b
|
UTSW |
2 |
33,454,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3056:Lmx1b
|
UTSW |
2 |
33,457,297 (GRCm39) |
nonsense |
probably null |
|
|
R3522:Lmx1b
|
UTSW |
2 |
33,529,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3957:Lmx1b
|
UTSW |
2 |
33,459,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4888:Lmx1b
|
UTSW |
2 |
33,454,802 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6115:Lmx1b
|
UTSW |
2 |
33,459,118 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8254:Lmx1b
|
UTSW |
2 |
33,455,126 (GRCm39) |
missense |
|
|
|
R8787:Lmx1b
|
UTSW |
2 |
33,529,522 (GRCm39) |
missense |
|
|
|
RF035:Lmx1b
|
UTSW |
2 |
33,530,501 (GRCm39) |
nonsense |
probably null |
|
|
RF038:Lmx1b
|
UTSW |
2 |
33,530,521 (GRCm39) |
start codon destroyed |
probably null |
|
|
RF043:Lmx1b
|
UTSW |
2 |
33,530,521 (GRCm39) |
start codon destroyed |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACGTTTTCCCCTCAGG -3'
(R):5'- CTGACAAGCAGGTGACAGGC -3'
Sequencing Primer
(F):5'- TGGTCATTCCAGGGGTCC -3'
(R):5'- CGAGTAGCCGGTAGAGAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation