Incidental Mutation 'IGL02466:Homez'
| ID |
294579 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Homez
|
| Ensembl Gene |
ENSMUSG00000057156 |
| Gene Name |
homeodomain leucine zipper-encoding gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02466
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55090193-55108418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55095559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 50
(F50L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081162]
[ENSMUST00000142283]
[ENSMUST00000146642]
[ENSMUST00000176259]
[ENSMUST00000218311]
[ENSMUST00000219350]
[ENSMUST00000220208]
[ENSMUST00000220403]
[ENSMUST00000219519]
[ENSMUST00000220122]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081162
AA Change: F50L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079929
Gene: ENSMUSG00000057156
AA Change: F50L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
37 |
93 |
1.7e-1 |
SMART |
|
low complexity region
|
244 |
261 |
N/A |
INTRINSIC |
|
HOX
|
327 |
388 |
2.24e-6 |
SMART |
|
Pfam:Homez
|
421 |
477 |
3.6e-25 |
PFAM |
|
low complexity region
|
481 |
513 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142283
AA Change: F50L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117828
Gene: ENSMUSG00000057156
AA Change: F50L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
37 |
93 |
1.7e-1 |
SMART |
|
low complexity region
|
244 |
261 |
N/A |
INTRINSIC |
|
HOX
|
327 |
388 |
2.24e-6 |
SMART |
|
Pfam:Homez
|
421 |
477 |
7.3e-31 |
PFAM |
|
low complexity region
|
481 |
513 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146642
AA Change: F50L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114619
Gene: ENSMUSG00000057156
AA Change: F50L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
37 |
93 |
1.7e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176259
|
| SMART Domains |
Protein: ENSMUSP00000135648
Gene: ENSMUSG00000057156
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOX
|
1 |
37 |
7e-20 |
BLAST |
|
PDB:2ECC|A
|
1 |
42 |
1e-24 |
PDB |
|
Pfam:Homez
|
70 |
126 |
3.4e-26 |
PFAM |
|
low complexity region
|
130 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219350
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220122
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,247,527 (GRCm39) |
F2425L |
probably benign |
Het |
| Adgre4 |
A |
T |
17: 56,121,188 (GRCm39) |
Y418F |
probably benign |
Het |
| Adra1a |
G |
T |
14: 66,875,322 (GRCm39) |
C99F |
probably damaging |
Het |
| Aox3 |
C |
A |
1: 58,197,431 (GRCm39) |
H592Q |
probably benign |
Het |
| Cacna1f |
A |
G |
X: 7,495,644 (GRCm39) |
|
probably null |
Het |
| Cacna2d2 |
T |
A |
9: 107,342,753 (GRCm39) |
I100N |
probably damaging |
Het |
| Cblif |
A |
T |
19: 11,729,596 (GRCm39) |
N185I |
probably damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col4a3 |
T |
A |
1: 82,647,913 (GRCm39) |
C475S |
unknown |
Het |
| Csnk2a2 |
T |
C |
8: 96,203,859 (GRCm39) |
D100G |
possibly damaging |
Het |
| Cstf2t |
G |
A |
19: 31,061,277 (GRCm39) |
G271E |
possibly damaging |
Het |
| Fbxw22 |
T |
C |
9: 109,214,160 (GRCm39) |
R219G |
probably damaging |
Het |
| Hspa4l |
C |
T |
3: 40,707,657 (GRCm39) |
Q81* |
probably null |
Het |
| Ifi202b |
T |
C |
1: 173,799,875 (GRCm39) |
D202G |
possibly damaging |
Het |
| Inava |
T |
C |
1: 136,144,173 (GRCm39) |
|
probably null |
Het |
| Mansc1 |
T |
A |
6: 134,587,814 (GRCm39) |
D121V |
probably damaging |
Het |
| Or13a24 |
A |
G |
7: 140,154,684 (GRCm39) |
Y206C |
probably benign |
Het |
| Or4a27 |
T |
G |
2: 88,559,739 (GRCm39) |
D68A |
probably damaging |
Het |
| Or51h5 |
T |
A |
7: 102,577,723 (GRCm39) |
V296E |
possibly damaging |
Het |
| P2rx1 |
A |
T |
11: 72,900,410 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
A |
G |
4: 132,104,483 (GRCm39) |
|
probably benign |
Het |
| Pus10 |
C |
T |
11: 23,675,574 (GRCm39) |
T482I |
probably damaging |
Het |
| Scyl2 |
G |
T |
10: 89,488,871 (GRCm39) |
Y206* |
probably null |
Het |
| Sell |
G |
A |
1: 163,896,632 (GRCm39) |
|
probably null |
Het |
| Slfn10-ps |
C |
T |
11: 82,921,090 (GRCm39) |
|
noncoding transcript |
Het |
| Ssh2 |
T |
C |
11: 77,307,233 (GRCm39) |
|
probably benign |
Het |
| Tas2r117 |
A |
G |
6: 132,779,963 (GRCm39) |
M34V |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 19,993,631 (GRCm39) |
T3S |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,084 (GRCm39) |
I85K |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,770,887 (GRCm39) |
V2110A |
possibly damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp592 |
G |
A |
7: 80,673,746 (GRCm39) |
G237R |
probably damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,717,950 (GRCm39) |
E115G |
probably damaging |
Het |
| Zranb3 |
G |
A |
1: 127,943,829 (GRCm39) |
T306M |
probably benign |
Het |
|
| Other mutations in Homez |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Homez
|
APN |
14 |
55,094,575 (GRCm39) |
nonsense |
probably null |
|
|
IGL01780:Homez
|
APN |
14 |
55,095,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Homez
|
APN |
14 |
55,095,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Homez
|
UTSW |
14 |
55,095,162 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1702:Homez
|
UTSW |
14 |
55,094,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1804:Homez
|
UTSW |
14 |
55,094,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Homez
|
UTSW |
14 |
55,095,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3121:Homez
|
UTSW |
14 |
55,094,778 (GRCm39) |
missense |
probably benign |
|
|
R4589:Homez
|
UTSW |
14 |
55,094,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4927:Homez
|
UTSW |
14 |
55,095,264 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5240:Homez
|
UTSW |
14 |
55,095,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Homez
|
UTSW |
14 |
55,094,298 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7080:Homez
|
UTSW |
14 |
55,095,112 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7256:Homez
|
UTSW |
14 |
55,094,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Homez
|
UTSW |
14 |
55,095,675 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8017:Homez
|
UTSW |
14 |
55,095,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8019:Homez
|
UTSW |
14 |
55,095,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Homez
|
UTSW |
14 |
55,094,796 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-04-16 |
Incidental Mutation