Incidental Mutation 'IGL01780:Homez'
| ID |
154144 |
| 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 # |
IGL01780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55090193-55108418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55095355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 118
(T118A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081162]
[ENSMUST00000142283]
[ENSMUST00000146642]
[ENSMUST00000176259]
[ENSMUST00000218311]
[ENSMUST00000219350]
[ENSMUST00000220403]
[ENSMUST00000219519]
[ENSMUST00000220208]
[ENSMUST00000220122]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081162
AA Change: T118A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079929
Gene: ENSMUSG00000057156
AA Change: T118A
| 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: T118A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117828
Gene: ENSMUSG00000057156
AA Change: T118A
| 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 benign
Transcript: ENSMUST00000146642
|
| SMART Domains |
Protein: ENSMUSP00000114619
Gene: ENSMUSG00000057156
| 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: ENSMUST00000220403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220122
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,357,939 (GRCm39) |
N648D |
probably benign |
Het |
| BC024139 |
C |
A |
15: 76,005,343 (GRCm39) |
L506F |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,474 (GRCm39) |
L1221P |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
| Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
| Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,755,175 (GRCm39) |
M867V |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
| Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
| Gmds |
A |
T |
13: 32,409,145 (GRCm39) |
Y106* |
probably null |
Het |
| Kcnh7 |
G |
A |
2: 62,667,507 (GRCm39) |
T344I |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,539 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,316,528 (GRCm39) |
V2151G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
| Mrgpra6 |
T |
C |
7: 46,838,497 (GRCm39) |
T234A |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
| Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
| Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
| Or8w1 |
T |
C |
2: 87,465,424 (GRCm39) |
I222M |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,952,327 (GRCm39) |
S468R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,575 (GRCm39) |
S509P |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
| Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
| Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,359 (GRCm39) |
L743P |
probably benign |
Het |
| Rpusd4 |
G |
A |
9: 35,179,720 (GRCm39) |
R71Q |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,313,977 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,725 (GRCm39) |
T280A |
possibly damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
| Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,768 (GRCm39) |
M1635T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,255 (GRCm39) |
T242A |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,508,136 (GRCm39) |
V736A |
probably damaging |
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 |
|
|
IGL01951:Homez
|
APN |
14 |
55,095,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02466:Homez
|
APN |
14 |
55,095,559 (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 |
2014-02-04 |
Incidental Mutation