Incidental Mutation 'IGL03183:Hmbox1'
| ID |
412318 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hmbox1
|
| Ensembl Gene |
ENSMUSG00000021972 |
| Gene Name |
homeobox containing 1 |
| Synonyms |
F830020C16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.813)
|
| Stock # |
IGL03183
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
65049049-65187320 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65125048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 188
(Q188K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022544]
[ENSMUST00000067843]
[ENSMUST00000175744]
[ENSMUST00000175905]
[ENSMUST00000176128]
[ENSMUST00000176489]
[ENSMUST00000176832]
|
| AlphaFold |
Q8BJA3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022544
AA Change: Q188K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022544
Gene: ENSMUSG00000021972
AA Change: Q188K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
19 |
231 |
2.3e-15 |
PFAM |
|
HOX
|
267 |
344 |
6.18e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067843
AA Change: Q188K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066905
Gene: ENSMUSG00000021972
AA Change: Q188K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
19 |
231 |
2.5e-15 |
PFAM |
|
HOX
|
267 |
344 |
8.74e-9 |
SMART |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175744
AA Change: Q188K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135272
Gene: ENSMUSG00000021972
AA Change: Q188K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
19 |
231 |
1.4e-15 |
PFAM |
|
HOX
|
267 |
344 |
8.74e-9 |
SMART |
|
low complexity region
|
382 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175905
AA Change: Q188K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135657
Gene: ENSMUSG00000021972
AA Change: Q188K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
19 |
231 |
1.5e-15 |
PFAM |
|
HOX
|
267 |
344 |
6.18e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176128
AA Change: Q188K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135448
Gene: ENSMUSG00000021972
AA Change: Q188K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
25 |
227 |
4.4e-66 |
PFAM |
|
HOX
|
267 |
344 |
6.18e-9 |
SMART |
|
low complexity region
|
373 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176489
AA Change: Q188K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134824
Gene: ENSMUSG00000021972
AA Change: Q188K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
19 |
231 |
1.1e-15 |
PFAM |
|
HOX
|
267 |
355 |
1.89e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176657
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176832
AA Change: Q188K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135211
Gene: ENSMUSG00000021972
AA Change: Q188K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
19 |
231 |
1.4e-15 |
PFAM |
|
HOX
|
267 |
344 |
8.74e-9 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177326
AA Change: Q189K
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit absence of TERT binding to chromatin as shown by subcellular fractionation analysis of mouse embryonic fibroblasts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh6a1 |
A |
G |
12: 84,483,214 (GRCm39) |
|
probably null |
Het |
| Ano2 |
A |
T |
6: 125,687,592 (GRCm39) |
K32N |
probably benign |
Het |
| Asic1 |
A |
G |
15: 99,569,898 (GRCm39) |
H73R |
probably benign |
Het |
| B3glct |
A |
G |
5: 149,677,607 (GRCm39) |
D412G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,733,640 (GRCm39) |
I1891V |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,889,721 (GRCm39) |
E1278G |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,718 (GRCm39) |
E33G |
probably benign |
Het |
| Celf4 |
T |
A |
18: 25,670,796 (GRCm39) |
Q129L |
probably benign |
Het |
| Celf4 |
G |
T |
18: 25,670,797 (GRCm39) |
Q129K |
probably benign |
Het |
| Cfap251 |
A |
G |
5: 123,392,682 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,909,588 (GRCm39) |
S817P |
probably damaging |
Het |
| Corin |
A |
G |
5: 72,458,929 (GRCm39) |
V940A |
probably damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,777,525 (GRCm39) |
N257Y |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,349,314 (GRCm39) |
V2441L |
possibly damaging |
Het |
| Evpl |
C |
T |
11: 116,112,438 (GRCm39) |
E1751K |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,403,623 (GRCm39) |
E125K |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,881,640 (GRCm39) |
|
probably benign |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| G3bp2 |
A |
C |
5: 92,202,905 (GRCm39) |
M362R |
possibly damaging |
Het |
| Grk5 |
T |
C |
19: 61,057,774 (GRCm39) |
F158S |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,429,348 (GRCm39) |
D604E |
probably benign |
Het |
| Igkv6-32 |
T |
A |
6: 70,051,556 (GRCm39) |
T5S |
probably benign |
Het |
| Impa1 |
A |
G |
3: 10,388,054 (GRCm39) |
Y123H |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,879,550 (GRCm39) |
T612M |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,944,976 (GRCm39) |
|
probably null |
Het |
| Meis2 |
A |
G |
2: 115,890,002 (GRCm39) |
L160S |
probably damaging |
Het |
| Micu1 |
C |
T |
10: 59,563,870 (GRCm39) |
R31* |
probably null |
Het |
| Nlrp9a |
G |
T |
7: 26,256,882 (GRCm39) |
A167S |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,425 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4d10 |
A |
T |
19: 12,051,392 (GRCm39) |
N201K |
probably damaging |
Het |
| Plpp6 |
A |
G |
19: 28,942,071 (GRCm39) |
N224S |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,741,810 (GRCm39) |
H803L |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,967,143 (GRCm39) |
T690A |
probably benign |
Het |
| Slc36a1 |
T |
A |
11: 55,119,017 (GRCm39) |
Y331N |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,009 (GRCm39) |
I184F |
possibly damaging |
Het |
| Stat3 |
T |
C |
11: 100,793,582 (GRCm39) |
I338V |
possibly damaging |
Het |
| Stk10 |
T |
A |
11: 32,554,143 (GRCm39) |
V610E |
possibly damaging |
Het |
| Syna |
A |
G |
5: 134,587,144 (GRCm39) |
S602P |
probably benign |
Het |
| Tap2 |
T |
A |
17: 34,424,399 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,539,084 (GRCm39) |
|
probably benign |
Het |
| Tra2b |
C |
A |
16: 22,073,303 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,339,968 (GRCm39) |
|
probably null |
Het |
| Vmn2r121 |
G |
A |
X: 123,042,023 (GRCm39) |
T378I |
probably benign |
Het |
| Wdr1 |
A |
T |
5: 38,690,825 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Hmbox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0962:Hmbox1
|
UTSW |
14 |
65,134,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1144:Hmbox1
|
UTSW |
14 |
65,063,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Hmbox1
|
UTSW |
14 |
65,099,027 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1467:Hmbox1
|
UTSW |
14 |
65,099,027 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1856:Hmbox1
|
UTSW |
14 |
65,066,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2101:Hmbox1
|
UTSW |
14 |
65,066,028 (GRCm39) |
splice site |
probably benign |
|
|
R3707:Hmbox1
|
UTSW |
14 |
65,134,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4531:Hmbox1
|
UTSW |
14 |
65,062,938 (GRCm39) |
missense |
probably benign |
|
|
R4570:Hmbox1
|
UTSW |
14 |
65,061,111 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4572:Hmbox1
|
UTSW |
14 |
65,140,682 (GRCm39) |
splice site |
probably null |
|
|
R4740:Hmbox1
|
UTSW |
14 |
65,134,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Hmbox1
|
UTSW |
14 |
65,062,998 (GRCm39) |
intron |
probably benign |
|
|
R5112:Hmbox1
|
UTSW |
14 |
65,063,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Hmbox1
|
UTSW |
14 |
65,134,144 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5575:Hmbox1
|
UTSW |
14 |
65,060,613 (GRCm39) |
missense |
probably benign |
|
|
R5928:Hmbox1
|
UTSW |
14 |
65,061,122 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6934:Hmbox1
|
UTSW |
14 |
65,134,281 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7155:Hmbox1
|
UTSW |
14 |
65,134,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7302:Hmbox1
|
UTSW |
14 |
65,066,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7499:Hmbox1
|
UTSW |
14 |
65,134,126 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8361:Hmbox1
|
UTSW |
14 |
65,134,289 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8708:Hmbox1
|
UTSW |
14 |
65,061,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation