Incidental Mutation 'R3793:Lhx1'
| ID |
272663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lhx1
|
| Ensembl Gene |
ENSMUSG00000018698 |
| Gene Name |
LIM homeobox protein 1 |
| Synonyms |
Lim1 |
| MMRRC Submission |
040755-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3793 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84409110-84416361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84412726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 65
(S65P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018842]
[ENSMUST00000092827]
[ENSMUST00000184646]
|
| AlphaFold |
P63006 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018842
AA Change: S156P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018842
Gene: ENSMUSG00000018698
AA Change: S156P
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
3 |
54 |
5.51e-17 |
SMART |
|
LIM
|
62 |
117 |
4.24e-18 |
SMART |
|
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
|
HOX
|
180 |
242 |
1.33e-22 |
SMART |
|
low complexity region
|
315 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000092827
AA Change: S112P
|
| SMART Domains |
Protein: ENSMUSP00000090503
Gene: ENSMUSG00000018698
AA Change: S112P
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
18 |
73 |
4.24e-18 |
SMART |
|
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176503
|
| SMART Domains |
Protein: ENSMUSP00000135334
Gene: ENSMUSG00000018698
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Homeobox
|
1 |
17 |
5.3e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184646
AA Change: S65P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000138899
Gene: ENSMUSG00000018698
AA Change: S65P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
65 |
N/A |
INTRINSIC |
|
HOX
|
89 |
151 |
6.8e-25 |
SMART |
|
low complexity region
|
224 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
276 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0926 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for targeted null mutations are small, fail to develop head structures anterior to rhombomere 3 in the hindbrain, lack kidneys and gonads, and show aberrant trajectories of limb motor axons. Most mutants die around embryonic day 10. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,259,889 (GRCm39) |
T35A |
probably benign |
Het |
| Arhgap32 |
T |
A |
9: 32,166,669 (GRCm39) |
S435R |
probably damaging |
Het |
| Asic1 |
A |
T |
15: 99,569,906 (GRCm39) |
K76* |
probably null |
Het |
| B9d1 |
A |
G |
11: 61,398,448 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,619,876 (GRCm39) |
V207A |
possibly damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cnfn |
T |
C |
7: 25,067,805 (GRCm39) |
N45S |
probably benign |
Het |
| Col14a1 |
G |
T |
15: 55,226,909 (GRCm39) |
D220Y |
unknown |
Het |
| Csn1s1 |
T |
A |
5: 87,828,702 (GRCm39) |
Y274* |
probably null |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,600 (GRCm39) |
T140A |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,459,743 (GRCm39) |
|
probably benign |
Het |
| Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,414,925 (GRCm39) |
D1366N |
possibly damaging |
Het |
| Itga4 |
A |
G |
2: 79,109,472 (GRCm39) |
T224A |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,952,588 (GRCm39) |
M844L |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,651,345 (GRCm39) |
S46N |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,685 (GRCm39) |
S208G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
| Nfrkb |
A |
T |
9: 31,321,228 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
| Nlrp14 |
A |
T |
7: 106,781,481 (GRCm39) |
Q226L |
probably benign |
Het |
| Ocln |
T |
C |
13: 100,635,402 (GRCm39) |
R496G |
possibly damaging |
Het |
| Or2b2b |
T |
C |
13: 21,859,153 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
A |
9: 19,938,359 (GRCm39) |
I292F |
probably damaging |
Het |
| Osgepl1 |
T |
C |
1: 53,359,406 (GRCm39) |
I305T |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,487 (GRCm39) |
N266S |
probably benign |
Het |
| Per1 |
A |
G |
11: 69,000,127 (GRCm39) |
E1273G |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,605,252 (GRCm39) |
Y1542H |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,190,994 (GRCm39) |
F252L |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,407,700 (GRCm39) |
D607E |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,086,916 (GRCm39) |
|
probably null |
Het |
| Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,622,033 (GRCm39) |
Y531C |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,870,087 (GRCm39) |
S61T |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
| Uba2 |
A |
C |
7: 33,845,722 (GRCm39) |
V467G |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,747,525 (GRCm39) |
S263P |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,465 (GRCm39) |
T239A |
probably benign |
Het |
| Wac |
T |
C |
18: 7,920,190 (GRCm39) |
V348A |
possibly damaging |
Het |
| Wdr3 |
A |
T |
3: 100,059,281 (GRCm39) |
M346K |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,578,331 (GRCm39) |
H467L |
probably benign |
Het |
|
| Other mutations in Lhx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:Lhx1
|
APN |
11 |
84,410,478 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1346:Lhx1
|
UTSW |
11 |
84,412,905 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1565:Lhx1
|
UTSW |
11 |
84,410,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1806:Lhx1
|
UTSW |
11 |
84,414,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Lhx1
|
UTSW |
11 |
84,410,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2449:Lhx1
|
UTSW |
11 |
84,412,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3721:Lhx1
|
UTSW |
11 |
84,412,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Lhx1
|
UTSW |
11 |
84,410,735 (GRCm39) |
nonsense |
probably null |
|
|
R5178:Lhx1
|
UTSW |
11 |
84,411,214 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5877:Lhx1
|
UTSW |
11 |
84,413,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Lhx1
|
UTSW |
11 |
84,413,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6551:Lhx1
|
UTSW |
11 |
84,412,739 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7060:Lhx1
|
UTSW |
11 |
84,411,108 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7106:Lhx1
|
UTSW |
11 |
84,412,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7133:Lhx1
|
UTSW |
11 |
84,410,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7161:Lhx1
|
UTSW |
11 |
84,410,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Lhx1
|
UTSW |
11 |
84,412,703 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8843:Lhx1
|
UTSW |
11 |
84,410,455 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTTGAGGCCAGTCTCCTG -3'
(R):5'- CTGAGTAACAGCAGTGTCGC -3'
Sequencing Primer
(F):5'- AGTCTCCTGGGCCAGTTG -3'
(R):5'- TAACAGCAGTGTCGCCAAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation