Incidental Mutation 'IGL02751:Hmg20b'
| ID |
306313 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hmg20b
|
| Ensembl Gene |
ENSMUSG00000020232 |
| Gene Name |
high mobility group 20B |
| Synonyms |
BRCA2-associated factor 35, Hmgxb2, Hmgx2, Smarce1r, BRAF35 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.444)
|
| Stock # |
IGL02751
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81181882-81186314 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 81182385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020454]
[ENSMUST00000045102]
[ENSMUST00000105323]
[ENSMUST00000105324]
[ENSMUST00000122993]
[ENSMUST00000167481]
[ENSMUST00000154609]
|
| AlphaFold |
Q9Z104 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020454
|
| SMART Domains |
Protein: ENSMUSP00000020454
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
coiled coil region
|
190 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045102
|
| SMART Domains |
Protein: ENSMUSP00000049236
Gene: ENSMUSG00000034872
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
104 |
N/A |
INTRINSIC |
|
PDZ
|
105 |
179 |
1.19e-7 |
SMART |
|
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105323
|
| SMART Domains |
Protein: ENSMUSP00000100960
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
coiled coil region
|
190 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105324
|
| SMART Domains |
Protein: ENSMUSP00000100961
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
coiled coil region
|
190 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122993
|
| SMART Domains |
Protein: ENSMUSP00000137861
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMG_box
|
1 |
36 |
1.2e-7 |
PFAM |
|
coiled coil region
|
88 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132313
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167481
|
| SMART Domains |
Protein: ENSMUSP00000128807
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
coiled coil region
|
190 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148839
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154609
|
| SMART Domains |
Protein: ENSMUSP00000115459
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141171
|
| SMART Domains |
Protein: ENSMUSP00000117322
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
HMG
|
19 |
89 |
8.68e-22 |
SMART |
|
coiled coil region
|
139 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1a |
A |
T |
14: 66,964,981 (GRCm39) |
I324F |
possibly damaging |
Het |
| Ago2 |
G |
A |
15: 73,002,746 (GRCm39) |
A162V |
possibly damaging |
Het |
| Aox4 |
G |
T |
1: 58,298,211 (GRCm39) |
R1059I |
probably damaging |
Het |
| AU021092 |
C |
A |
16: 5,030,483 (GRCm39) |
V304L |
probably damaging |
Het |
| Bcs1l |
T |
G |
1: 74,628,775 (GRCm39) |
F20V |
probably damaging |
Het |
| Braf |
T |
C |
6: 39,637,801 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
| Ccdc116 |
T |
A |
16: 16,959,836 (GRCm39) |
R284S |
probably benign |
Het |
| Cntnap5a |
T |
G |
1: 116,112,187 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,521,141 (GRCm39) |
|
probably benign |
Het |
| Cpa4 |
T |
A |
6: 30,581,739 (GRCm39) |
Y229N |
probably damaging |
Het |
| Fbp1 |
A |
C |
13: 63,022,957 (GRCm39) |
|
probably null |
Het |
| Gimap3 |
A |
T |
6: 48,742,172 (GRCm39) |
W253R |
probably benign |
Het |
| Gm1330 |
G |
A |
2: 148,832,393 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,404,093 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,814,482 (GRCm39) |
T338A |
probably benign |
Het |
| Hnrnpdl |
A |
G |
5: 100,185,833 (GRCm39) |
F151L |
probably damaging |
Het |
| Klhl30 |
T |
A |
1: 91,281,821 (GRCm39) |
F141I |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,810,716 (GRCm39) |
F862Y |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,662,138 (GRCm39) |
C313R |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,363,806 (GRCm39) |
T344A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,778,251 (GRCm39) |
E2023G |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,931,243 (GRCm39) |
K735N |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,118 (GRCm39) |
T185A |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,306 (GRCm39) |
C70R |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,434 (GRCm39) |
K145R |
probably benign |
Het |
| Pde1c |
T |
C |
6: 56,158,673 (GRCm39) |
T52A |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,019,076 (GRCm39) |
S802P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prep |
T |
A |
10: 44,991,282 (GRCm39) |
I316N |
probably damaging |
Het |
| Prl3d2 |
G |
A |
13: 27,310,014 (GRCm39) |
|
probably null |
Het |
| Pygo1 |
A |
T |
9: 72,852,319 (GRCm39) |
I169F |
probably benign |
Het |
| Rnf10 |
G |
T |
5: 115,380,725 (GRCm39) |
A716E |
probably benign |
Het |
| Rtn4 |
G |
A |
11: 29,656,409 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,778,199 (GRCm39) |
V2099E |
probably damaging |
Het |
| Slc48a1 |
G |
A |
15: 97,687,961 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,918,110 (GRCm39) |
Y364* |
probably null |
Het |
| Syt3 |
A |
T |
7: 44,035,486 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tango2 |
G |
T |
16: 18,125,857 (GRCm39) |
P143H |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,107 (GRCm39) |
S201P |
probably damaging |
Het |
| Tas2r107 |
G |
A |
6: 131,636,447 (GRCm39) |
L201F |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,374 (GRCm39) |
L78Q |
probably damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,508,072 (GRCm39) |
T351S |
probably benign |
Het |
|
| Other mutations in Hmg20b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01611:Hmg20b
|
APN |
10 |
81,183,309 (GRCm39) |
missense |
probably benign |
0.44 |
|
PIT4585001:Hmg20b
|
UTSW |
10 |
81,184,789 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0903:Hmg20b
|
UTSW |
10 |
81,184,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2337:Hmg20b
|
UTSW |
10 |
81,184,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2843:Hmg20b
|
UTSW |
10 |
81,182,404 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4646:Hmg20b
|
UTSW |
10 |
81,184,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4647:Hmg20b
|
UTSW |
10 |
81,184,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4648:Hmg20b
|
UTSW |
10 |
81,184,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4850:Hmg20b
|
UTSW |
10 |
81,182,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6863:Hmg20b
|
UTSW |
10 |
81,182,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Hmg20b
|
UTSW |
10 |
81,182,493 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7611:Hmg20b
|
UTSW |
10 |
81,185,432 (GRCm39) |
intron |
probably benign |
|
|
R7881:Hmg20b
|
UTSW |
10 |
81,182,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:Hmg20b
|
UTSW |
10 |
81,184,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Hmg20b
|
UTSW |
10 |
81,184,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9405:Hmg20b
|
UTSW |
10 |
81,185,258 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Hmg20b
|
UTSW |
10 |
81,182,407 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation