Incidental Mutation 'R6934:Hmbox1'
| ID |
540219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmbox1
|
| Ensembl Gene |
ENSMUSG00000021972 |
| Gene Name |
homeobox containing 1 |
| Synonyms |
F830020C16Rik |
| MMRRC Submission |
045049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.813)
|
| Stock # |
R6934 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
65049049-65187320 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65134281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 106
(D106E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022544]
[ENSMUST00000067843]
[ENSMUST00000175744]
[ENSMUST00000175905]
[ENSMUST00000176128]
[ENSMUST00000176489]
[ENSMUST00000176832]
|
| AlphaFold |
Q8BJA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022544
AA Change: D106E
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022544
Gene: ENSMUSG00000021972
AA Change: D106E
| 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 benign
Transcript: ENSMUST00000067843
AA Change: D106E
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000066905
Gene: ENSMUSG00000021972
AA Change: D106E
| 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 benign
Transcript: ENSMUST00000175744
AA Change: D106E
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135272
Gene: ENSMUSG00000021972
AA Change: D106E
| 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 benign
Transcript: ENSMUST00000175905
AA Change: D106E
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135657
Gene: ENSMUSG00000021972
AA Change: D106E
| 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 benign
Transcript: ENSMUST00000176128
AA Change: D106E
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135448
Gene: ENSMUSG00000021972
AA Change: D106E
| 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 benign
Transcript: ENSMUST00000176489
AA Change: D106E
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134824
Gene: ENSMUSG00000021972
AA Change: D106E
| 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 |
probably benign
Transcript: ENSMUST00000176832
AA Change: D106E
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135211
Gene: ENSMUSG00000021972
AA Change: D106E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
T |
A |
8: 122,266,712 (GRCm39) |
Y58F |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,218,251 (GRCm39) |
V58A |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,322,520 (GRCm39) |
M289V |
probably benign |
Het |
| Bhmt2 |
A |
T |
13: 93,798,819 (GRCm39) |
I334N |
probably benign |
Het |
| Copa |
T |
A |
1: 171,938,253 (GRCm39) |
I513N |
possibly damaging |
Het |
| Cspg4b |
T |
C |
13: 113,505,800 (GRCm39) |
S2310P |
probably benign |
Het |
| Ctif |
G |
A |
18: 75,568,431 (GRCm39) |
T569M |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,691,225 (GRCm39) |
M231K |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,653,824 (GRCm39) |
|
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,252 (GRCm39) |
I424V |
probably damaging |
Het |
| Foxred2 |
G |
T |
15: 77,836,530 (GRCm39) |
C328* |
probably null |
Het |
| Gemin5 |
A |
T |
11: 58,038,738 (GRCm39) |
H590Q |
probably damaging |
Het |
| Gm5475 |
T |
C |
15: 100,325,007 (GRCm39) |
|
probably benign |
Het |
| Gmip |
A |
G |
8: 70,273,576 (GRCm39) |
T956A |
probably benign |
Het |
| Irs2 |
A |
T |
8: 11,054,697 (GRCm39) |
I1245N |
probably damaging |
Het |
| Kcnk1 |
A |
G |
8: 126,752,129 (GRCm39) |
Y245C |
probably damaging |
Het |
| Krtap4-9 |
A |
T |
11: 99,676,708 (GRCm39) |
R210* |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,081,538 (GRCm39) |
D1325G |
probably benign |
Het |
| Lyz3 |
C |
T |
10: 117,074,413 (GRCm39) |
D25N |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,793,121 (GRCm39) |
V361E |
probably damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,131,813 (GRCm39) |
I92T |
possibly damaging |
Het |
| Nup214 |
A |
T |
2: 31,872,683 (GRCm39) |
R242* |
probably null |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or13a24 |
T |
G |
7: 140,154,564 (GRCm39) |
L166R |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,026 (GRCm39) |
V148A |
probably benign |
Het |
| Or8b1c |
T |
G |
9: 38,384,472 (GRCm39) |
I143S |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,539,523 (GRCm39) |
K39E |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,912,373 (GRCm39) |
G736D |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,181,895 (GRCm39) |
E471G |
possibly damaging |
Het |
| Prrc2c |
G |
A |
1: 162,548,074 (GRCm39) |
P161S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
| Saal1 |
A |
G |
7: 46,352,088 (GRCm39) |
C144R |
probably benign |
Het |
| Slc29a4 |
G |
A |
5: 142,698,713 (GRCm39) |
V125I |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,305,541 (GRCm39) |
T322A |
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,244,969 (GRCm39) |
M591K |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,176 (GRCm39) |
I1478V |
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,188,998 (GRCm39) |
|
probably null |
Het |
| Tmem150c |
C |
T |
5: 100,243,465 (GRCm39) |
|
probably null |
Het |
| Tmem39b |
T |
A |
4: 129,572,366 (GRCm39) |
H412L |
possibly damaging |
Het |
| Tox |
A |
C |
4: 6,697,635 (GRCm39) |
H389Q |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,202,158 (GRCm39) |
I1595T |
probably damaging |
Het |
| Vmn2r-ps117 |
T |
G |
17: 19,044,967 (GRCm39) |
Y461* |
probably null |
Het |
| Vps13a |
T |
C |
19: 16,653,558 (GRCm39) |
H1941R |
probably damaging |
Het |
|
| Other mutations in Hmbox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03183:Hmbox1
|
APN |
14 |
65,125,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTAGAAAATATACATGCCTGGGG -3'
(R):5'- GGACCGTCTTGATCAAGAGC -3'
Sequencing Primer
(F):5'- GGGGGATTCTGAATAGACAACATAC -3'
(R):5'- CCGTCTTGATCAAGAGCATAGTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation