Incidental Mutation 'R5178:Lhx1'
| ID |
399496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lhx1
|
| Ensembl Gene |
ENSMUSG00000018698 |
| Gene Name |
LIM homeobox protein 1 |
| Synonyms |
Lim1 |
| MMRRC Submission |
042758-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5178 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
84409110-84416361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 84411214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 155
(A155E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018842]
[ENSMUST00000092827]
[ENSMUST00000184646]
|
| AlphaFold |
P63006 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018842
AA Change: A246E
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018842
Gene: ENSMUSG00000018698
AA Change: A246E
| 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 |
probably benign
Transcript: ENSMUST00000092827
|
| SMART Domains |
Protein: ENSMUSP00000090503
Gene: ENSMUSG00000018698
| 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: ENSMUST00000176503
|
| SMART Domains |
Protein: ENSMUSP00000135334
Gene: ENSMUSG00000018698
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Homeobox
|
1 |
17 |
5.3e-6 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184646
AA Change: A155E
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138899
Gene: ENSMUSG00000018698
AA Change: A155E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cndp2 |
A |
T |
18: 84,693,153 (GRCm39) |
N202K |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,397,376 (GRCm39) |
F3936V |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,331 (GRCm39) |
F668L |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,037,344 (GRCm39) |
S624T |
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,273,867 (GRCm39) |
V444L |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
| Maip1 |
G |
A |
1: 57,454,849 (GRCm39) |
D278N |
probably benign |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Mmp17 |
T |
A |
5: 129,672,122 (GRCm39) |
W132R |
probably damaging |
Het |
| Or4p7 |
C |
T |
2: 88,221,819 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| Pds5a |
T |
C |
5: 65,821,218 (GRCm39) |
T169A |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,029,396 (GRCm39) |
N697D |
probably benign |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,607 (GRCm39) |
M1109K |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Sp4 |
A |
G |
12: 118,225,624 (GRCm39) |
V580A |
possibly damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,046,667 (GRCm39) |
S413T |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Tmem200a |
T |
A |
10: 25,870,277 (GRCm39) |
Q4H |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,717,469 (GRCm39) |
I122N |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,337 (GRCm39) |
T250A |
probably benign |
Het |
| Wasf1 |
G |
A |
10: 40,813,672 (GRCm39) |
R518H |
unknown |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
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 |
|
R3793:Lhx1
|
UTSW |
11 |
84,412,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4940:Lhx1
|
UTSW |
11 |
84,410,735 (GRCm39) |
nonsense |
probably null |
|
|
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'- GAAAGCAAGAGGTACCTCCC -3'
(R):5'- CTGGTCCTACTCAGAGACCAAC -3'
Sequencing Primer
(F):5'- AAGAGGTACCTCCCGCACTG -3'
(R):5'- ACATATCCGCGCGTGTAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation