Incidental Mutation 'R8361:Hmbox1'
| ID |
645968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmbox1
|
| Ensembl Gene |
ENSMUSG00000021972 |
| Gene Name |
homeobox containing 1 |
| Synonyms |
F830020C16Rik |
| MMRRC Submission |
067735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.813)
|
| Stock # |
R8361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
65049049-65187320 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65134289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 104
(S104G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022544]
[ENSMUST00000067843]
[ENSMUST00000175744]
[ENSMUST00000175905]
[ENSMUST00000176128]
[ENSMUST00000176489]
[ENSMUST00000176832]
|
| AlphaFold |
Q8BJA3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022544
AA Change: S104G
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022544
Gene: ENSMUSG00000021972
AA Change: S104G
| 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 |
possibly damaging
Transcript: ENSMUST00000067843
AA Change: S104G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066905
Gene: ENSMUSG00000021972
AA Change: S104G
| 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 |
possibly damaging
Transcript: ENSMUST00000175744
AA Change: S104G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135272
Gene: ENSMUSG00000021972
AA Change: S104G
| 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 |
possibly damaging
Transcript: ENSMUST00000175905
AA Change: S104G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135657
Gene: ENSMUSG00000021972
AA Change: S104G
| 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 |
possibly damaging
Transcript: ENSMUST00000176128
AA Change: S104G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135448
Gene: ENSMUSG00000021972
AA Change: S104G
| 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 |
possibly damaging
Transcript: ENSMUST00000176489
AA Change: S104G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134824
Gene: ENSMUSG00000021972
AA Change: S104G
| 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 |
possibly damaging
Transcript: ENSMUST00000176832
AA Change: S104G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135211
Gene: ENSMUSG00000021972
AA Change: S104G
| 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: 99.7%
- 20x: 99.0%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,153 (GRCm39) |
N161S |
possibly damaging |
Het |
| Alg2 |
T |
C |
4: 47,471,848 (GRCm39) |
Y320C |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,279,998 (GRCm39) |
E538V |
probably benign |
Het |
| Carmil1 |
A |
C |
13: 24,251,113 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,557,487 (GRCm39) |
F702S |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,388,221 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
G |
T |
15: 28,331,956 (GRCm39) |
V2181L |
probably damaging |
Het |
| Dnajc11 |
C |
A |
4: 152,055,368 (GRCm39) |
R229S |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,801 (GRCm39) |
N579D |
possibly damaging |
Het |
| Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,697,426 (GRCm39) |
C314R |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,839 (GRCm39) |
H78L |
possibly damaging |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
| Ighv1-36 |
T |
A |
12: 114,843,627 (GRCm39) |
S78C |
probably damaging |
Het |
| Lrriq3 |
G |
A |
3: 154,806,855 (GRCm39) |
W168* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,376,250 (GRCm39) |
F3981S |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,715 (GRCm39) |
H314R |
possibly damaging |
Het |
| Pias1 |
T |
C |
9: 62,826,668 (GRCm39) |
T265A |
possibly damaging |
Het |
| Rxfp3 |
C |
A |
15: 11,036,784 (GRCm39) |
R196L |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,475 (GRCm39) |
S4121P |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,890,061 (GRCm39) |
E61G |
probably damaging |
Het |
| Sestd1 |
A |
T |
2: 77,017,572 (GRCm39) |
M665K |
probably benign |
Het |
| Slc3a1 |
C |
T |
17: 85,344,640 (GRCm39) |
R269* |
probably null |
Het |
| Smurf1 |
T |
A |
5: 144,820,506 (GRCm39) |
I521F |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,122,529 (GRCm39) |
L331F |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,337,121 (GRCm39) |
D635G |
probably null |
Het |
| Usp5 |
C |
T |
6: 124,801,948 (GRCm39) |
G102D |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,476 (GRCm39) |
R582G |
probably damaging |
Het |
| Zfp654 |
T |
C |
16: 64,612,220 (GRCm39) |
H222R |
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 |
|
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 |
|
R8708:Hmbox1
|
UTSW |
14 |
65,061,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTAGAAAATATACATGCCTGGG -3'
(R):5'- AGAAACTTTGGACCGTCTTGATC -3'
Sequencing Primer
(F):5'- GGGGGATTCTGAATAGACAACATAC -3'
(R):5'- CCGTCTTGATCAAGAGCATAGTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation