Incidental Mutation 'R5937:Lhx4'
| ID |
462307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lhx4
|
| Ensembl Gene |
ENSMUSG00000026468 |
| Gene Name |
LIM homeobox protein 4 |
| Synonyms |
Gsh4, Gsh-4, A330062J17Rik |
| MMRRC Submission |
043242-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5937 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
155573777-155627430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155586023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 96
(I96T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027740]
[ENSMUST00000195275]
|
| AlphaFold |
P53776 |
| PDB Structure |
The structural basis for partial redundancy in a class of transcription factors, the lim-homeodomain proteins, in neural cell type specification [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027740
AA Change: I96T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027740
Gene: ENSMUSG00000026468
AA Change: I96T
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
80 |
3.39e-17 |
SMART |
|
LIM
|
88 |
143 |
2.76e-17 |
SMART |
|
HOX
|
157 |
219 |
5.79e-23 |
SMART |
|
low complexity region
|
306 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195275
AA Change: I35T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141662
Gene: ENSMUSG00000026468
AA Change: I35T
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
27 |
82 |
1.3e-19 |
SMART |
|
HOX
|
96 |
158 |
2.8e-25 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
| 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 involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mutations in this gene result in abnormal lung development and neonatal lethality. [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 |
|---|
| A1bg |
A |
T |
15: 60,791,495 (GRCm39) |
W314R |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,255,194 (GRCm39) |
V6143E |
probably damaging |
Het |
| Agap3 |
C |
T |
5: 24,682,815 (GRCm39) |
T261I |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,811,838 (GRCm39) |
I241T |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,076,051 (GRCm39) |
T1328A |
probably benign |
Het |
| Capn10 |
C |
T |
1: 92,867,105 (GRCm39) |
R112W |
probably damaging |
Het |
| Car5a |
A |
T |
8: 122,666,560 (GRCm39) |
W46R |
probably damaging |
Het |
| Cntn6 |
C |
A |
6: 104,810,064 (GRCm39) |
T582K |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,943,509 (GRCm39) |
V60A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,947,410 (GRCm39) |
F259L |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,156,478 (GRCm39) |
C91S |
possibly damaging |
Het |
| Fam228a |
T |
C |
12: 4,787,725 (GRCm39) |
E16G |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,203,256 (GRCm39) |
I388T |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,928,949 (GRCm39) |
K926N |
probably benign |
Het |
| Gm10097 |
G |
A |
10: 5,019,485 (GRCm39) |
|
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,322,675 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
A |
G |
11: 57,080,559 (GRCm39) |
T112A |
probably benign |
Het |
| Hnrnpk |
A |
C |
13: 58,543,016 (GRCm39) |
V134G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,224,808 (GRCm39) |
V220A |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,419,745 (GRCm39) |
T955A |
possibly damaging |
Het |
| Lrtm1 |
T |
C |
14: 28,743,787 (GRCm39) |
V85A |
possibly damaging |
Het |
| Man2a2 |
T |
C |
7: 80,013,251 (GRCm39) |
Y514C |
probably damaging |
Het |
| Npas1 |
T |
A |
7: 16,197,187 (GRCm39) |
D226V |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,619,074 (GRCm39) |
V858I |
probably benign |
Het |
| Or14c40 |
G |
T |
7: 86,313,684 (GRCm39) |
L271F |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,675 (GRCm39) |
S215T |
probably damaging |
Het |
| Pde6b |
G |
T |
5: 108,572,193 (GRCm39) |
A478S |
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,674,487 (GRCm39) |
N789K |
possibly damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,839 (GRCm39) |
D120G |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,011,110 (GRCm39) |
T220A |
probably benign |
Het |
| Sdr39u1 |
A |
T |
14: 56,135,364 (GRCm39) |
I193K |
probably damaging |
Het |
| Sec61a2 |
C |
A |
2: 5,891,368 (GRCm39) |
M54I |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
| Sra1 |
C |
T |
18: 36,804,652 (GRCm39) |
|
probably null |
Het |
| Taf5 |
C |
T |
19: 47,070,334 (GRCm39) |
S640L |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,236 (GRCm39) |
H174L |
probably benign |
Het |
| Tmem63a |
T |
A |
1: 180,788,716 (GRCm39) |
V351D |
probably damaging |
Het |
| Ttll7 |
C |
T |
3: 146,649,847 (GRCm39) |
Q626* |
probably null |
Het |
| Ubn2 |
T |
A |
6: 38,440,917 (GRCm39) |
V263E |
possibly damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,505,667 (GRCm39) |
W9* |
probably null |
Het |
| Xrcc3 |
C |
G |
12: 111,774,406 (GRCm39) |
C141S |
probably null |
Het |
| Zfp516 |
T |
A |
18: 82,974,958 (GRCm39) |
D385E |
probably damaging |
Het |
|
| Other mutations in Lhx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02366:Lhx4
|
APN |
1 |
155,580,934 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02516:Lhx4
|
APN |
1 |
155,578,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02806:Lhx4
|
APN |
1 |
155,577,975 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03104:Lhx4
|
APN |
1 |
155,580,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Lhx4
|
UTSW |
1 |
155,578,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3438:Lhx4
|
UTSW |
1 |
155,578,230 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4369:Lhx4
|
UTSW |
1 |
155,580,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4392:Lhx4
|
UTSW |
1 |
155,585,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Lhx4
|
UTSW |
1 |
155,581,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4875:Lhx4
|
UTSW |
1 |
155,581,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6329:Lhx4
|
UTSW |
1 |
155,578,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6694:Lhx4
|
UTSW |
1 |
155,580,456 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7212:Lhx4
|
UTSW |
1 |
155,600,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7418:Lhx4
|
UTSW |
1 |
155,586,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Lhx4
|
UTSW |
1 |
155,580,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7900:Lhx4
|
UTSW |
1 |
155,617,709 (GRCm39) |
intron |
probably benign |
|
|
R8210:Lhx4
|
UTSW |
1 |
155,586,214 (GRCm39) |
splice site |
probably null |
|
|
R8510:Lhx4
|
UTSW |
1 |
155,578,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Lhx4
|
UTSW |
1 |
155,581,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8892:Lhx4
|
UTSW |
1 |
155,581,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9300:Lhx4
|
UTSW |
1 |
155,580,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Lhx4
|
UTSW |
1 |
155,578,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9532:Lhx4
|
UTSW |
1 |
155,586,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lhx4
|
UTSW |
1 |
155,581,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGACTAGGCTGAGCATC -3'
(R):5'- AATGAAGCTATCAGGAGGCC -3'
Sequencing Primer
(F):5'- ATGAGCATGGCCAGCTCTG -3'
(R):5'- GGCCTAGAGTACCCGTAACCTTTAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation