Incidental Mutation 'R4531:Hmbox1'
| ID |
333121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmbox1
|
| Ensembl Gene |
ENSMUSG00000021972 |
| Gene Name |
homeobox containing 1 |
| Synonyms |
F830020C16Rik |
| MMRRC Submission |
041771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.811)
|
| Stock # |
R4531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65049049-65187320 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65062938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 413
(C413S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022544]
[ENSMUST00000067843]
[ENSMUST00000175744]
[ENSMUST00000175905]
[ENSMUST00000176128]
[ENSMUST00000176489]
[ENSMUST00000176832]
|
| AlphaFold |
Q8BJA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022544
|
| SMART Domains |
Protein: ENSMUSP00000022544
Gene: ENSMUSG00000021972
| 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
|
| SMART Domains |
Protein: ENSMUSP00000066905
Gene: ENSMUSG00000021972
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135272
Gene: ENSMUSG00000021972
| 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: C413S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135657
Gene: ENSMUSG00000021972
AA Change: C413S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135448
Gene: ENSMUSG00000021972
| 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 |
noncoding transcript
Transcript: ENSMUST00000176386
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176489
|
| SMART Domains |
Protein: ENSMUSP00000134824
Gene: ENSMUSG00000021972
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135211
Gene: ENSMUSG00000021972
| 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 |
probably benign
Transcript: ENSMUST00000177326
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (35/36) |
| 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 |
|---|
| Acad12 |
T |
C |
5: 121,736,962 (GRCm39) |
T526A |
probably benign |
Het |
| Acad12 |
T |
C |
5: 121,736,964 (GRCm39) |
Q525R |
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,661,073 (GRCm39) |
V558A |
probably benign |
Het |
| Cntnap4 |
G |
A |
8: 113,537,240 (GRCm39) |
V704M |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,998 (GRCm39) |
D53G |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,137,072 (GRCm39) |
|
probably benign |
Het |
| Cyp2d10 |
T |
A |
15: 82,289,462 (GRCm39) |
T217S |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,239,036 (GRCm39) |
T229A |
probably damaging |
Het |
| E4f1 |
A |
T |
17: 24,664,961 (GRCm39) |
S408T |
possibly damaging |
Het |
| Eif1ad19 |
G |
A |
12: 87,740,314 (GRCm39) |
Q82* |
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,510,099 (GRCm39) |
F339L |
probably benign |
Het |
| Kmo |
T |
C |
1: 175,487,273 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,020,215 (GRCm39) |
I1157V |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,898,700 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,479 (GRCm39) |
L203H |
probably benign |
Het |
| Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,825,422 (GRCm39) |
D4657G |
unknown |
Het |
| Pgd |
T |
C |
4: 149,241,234 (GRCm39) |
K225R |
probably benign |
Het |
| Poli |
A |
T |
18: 70,650,548 (GRCm39) |
H297Q |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,909,715 (GRCm39) |
I668V |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,645 (GRCm39) |
S468P |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,691,790 (GRCm39) |
T3A |
probably benign |
Het |
| Trpc2 |
G |
T |
7: 101,745,205 (GRCm39) |
R807L |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vwce |
A |
C |
19: 10,641,710 (GRCm39) |
E812A |
probably benign |
Het |
| Zmynd12 |
T |
C |
4: 119,280,194 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCGTCTCAAACACTGTGTG -3'
(R):5'- TACAGAGTCCAGGAGGCCATTC -3'
Sequencing Primer
(F):5'- AACTTGCTTGTTTGGGTCAGATCC -3'
(R):5'- CCATTCCAACAGTGACGATGTGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation