Incidental Mutation 'R6551:Lhx1'
| ID |
521640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lhx1
|
| Ensembl Gene |
ENSMUSG00000018698 |
| Gene Name |
LIM homeobox protein 1 |
| Synonyms |
Lim1 |
| MMRRC Submission |
044676-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6551 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84409110-84416361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 84412739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 60
(D60E)
|
| 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: D151E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000018842
Gene: ENSMUSG00000018698
AA Change: D151E
| 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: D107E
|
| SMART Domains |
Protein: ENSMUSP00000090503
Gene: ENSMUSG00000018698
AA Change: D107E
| 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: D60E
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138899
Gene: ENSMUSG00000018698
AA Change: D60E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
T |
1: 192,856,831 (GRCm39) |
Q61L |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,393,128 (GRCm39) |
S285P |
probably benign |
Het |
| Ager |
A |
G |
17: 34,818,442 (GRCm39) |
|
probably null |
Het |
| Alkbh7 |
T |
A |
17: 57,305,945 (GRCm39) |
Y115* |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,795,162 (GRCm39) |
D2184G |
possibly damaging |
Het |
| Chp1 |
T |
A |
2: 119,402,294 (GRCm39) |
H89Q |
possibly damaging |
Het |
| Clmp |
T |
C |
9: 40,682,573 (GRCm39) |
V119A |
probably benign |
Het |
| Cryge |
A |
T |
1: 65,087,796 (GRCm39) |
M171K |
probably benign |
Het |
| Cttnbp2nl |
A |
T |
3: 104,912,433 (GRCm39) |
S484T |
possibly damaging |
Het |
| Dsg3 |
C |
A |
18: 20,672,968 (GRCm39) |
P880T |
unknown |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Espn |
T |
C |
4: 152,213,223 (GRCm39) |
|
|
Het |
| Fbxo31 |
A |
C |
8: 122,291,443 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,710,342 (GRCm39) |
V1068A |
probably damaging |
Het |
| Jak1 |
C |
A |
4: 101,051,040 (GRCm39) |
|
probably benign |
Het |
| Klra10 |
A |
T |
6: 130,252,718 (GRCm39) |
D185E |
probably benign |
Het |
| Lyar |
C |
A |
5: 38,390,616 (GRCm39) |
A326D |
probably damaging |
Het |
| Muc16 |
A |
C |
9: 18,473,858 (GRCm39) |
S1280A |
possibly damaging |
Het |
| Nol9 |
G |
A |
4: 152,136,325 (GRCm39) |
V466I |
possibly damaging |
Het |
| Or10d1 |
C |
A |
9: 39,483,856 (GRCm39) |
R233L |
probably benign |
Het |
| Or12e8 |
T |
C |
2: 87,677,005 (GRCm39) |
V130A |
possibly damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,129 (GRCm39) |
I19T |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2w3b |
A |
T |
11: 58,623,583 (GRCm39) |
M136K |
probably damaging |
Het |
| Or2y10 |
G |
T |
11: 49,454,816 (GRCm39) |
V23L |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,016,731 (GRCm39) |
I342N |
probably damaging |
Het |
| Pnldc1 |
A |
G |
17: 13,124,456 (GRCm39) |
M133T |
probably damaging |
Het |
| Rab11fip1 |
G |
A |
8: 27,646,512 (GRCm39) |
S188L |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,122,342 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
G |
A |
6: 71,487,349 (GRCm39) |
C660Y |
probably damaging |
Het |
| Rph3al |
G |
A |
11: 75,797,372 (GRCm39) |
S108F |
possibly damaging |
Het |
| Srsf7 |
A |
C |
17: 80,511,648 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,871,450 (GRCm39) |
|
probably null |
Het |
| Tamm41 |
T |
C |
6: 114,989,142 (GRCm39) |
D284G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,585,896 (GRCm39) |
V25A |
probably benign |
Het |
| Tmem88b |
G |
T |
4: 155,870,149 (GRCm39) |
|
probably benign |
Het |
| Unk |
T |
C |
11: 115,941,550 (GRCm39) |
W266R |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,575,102 (GRCm39) |
|
probably benign |
Het |
| Zbtb48 |
T |
G |
4: 152,106,678 (GRCm39) |
Q142P |
probably benign |
Het |
| Zdhhc18 |
T |
C |
4: 133,340,960 (GRCm39) |
T267A |
probably benign |
Het |
| Zfp335 |
G |
A |
2: 164,751,285 (GRCm39) |
P94S |
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 |
|
R3793:Lhx1
|
UTSW |
11 |
84,412,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TTACCTGAGTAACAGCAGTGTCG -3'
Sequencing Primer
(F):5'- CAGTTGCTCACGGATATGGC -3'
(R):5'- TAACAGCAGTGTCGCCAAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation