Incidental Mutation 'R6400:Hoxb1'
| ID |
516135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxb1
|
| Ensembl Gene |
ENSMUSG00000018973 |
| Gene Name |
homeobox B1 |
| Synonyms |
Hox-2.9 |
| MMRRC Submission |
044547-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6400 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96256578-96259082 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 96256818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 56
(Q56*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019117]
|
| AlphaFold |
P17919 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019117
AA Change: Q56*
|
| SMART Domains |
Protein: ENSMUSP00000019117
Gene: ENSMUSG00000018973
AA Change: Q56*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
142 |
N/A |
INTRINSIC |
|
HOX
|
199 |
261 |
6.97e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123805
|
| Meta Mutation Damage Score |
0.9714 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.2%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele die neonatally with altered segmental identity and abnormal migration of motor neurons in the hindbrain. Mice homozygous for null alleles can exhibit partial postnatal lethality, narrow face, runting, absent facial motor nuclei, and facial nerve/muscle defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, knock-out(2) Targeted, other(10) |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,638,435 (GRCm39) |
*160Q |
probably null |
Het |
| Aen |
G |
A |
7: 78,557,142 (GRCm39) |
G330E |
probably benign |
Het |
| Akap8l |
G |
A |
17: 32,555,294 (GRCm39) |
R262C |
probably damaging |
Het |
| Cbx8 |
G |
A |
11: 118,929,694 (GRCm39) |
Q300* |
probably null |
Het |
| Cd274 |
C |
T |
19: 29,362,808 (GRCm39) |
T290M |
probably damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,721 (GRCm39) |
S127A |
probably damaging |
Het |
| Celf3 |
A |
G |
3: 94,387,593 (GRCm39) |
Y55C |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,412,316 (GRCm39) |
|
probably null |
Het |
| Cog2 |
A |
T |
8: 125,277,045 (GRCm39) |
I684F |
probably damaging |
Het |
| Cyp2c65 |
C |
T |
19: 39,049,558 (GRCm39) |
L29F |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Dytn |
A |
T |
1: 63,680,335 (GRCm39) |
L408* |
probably null |
Het |
| Flg |
A |
G |
3: 93,187,228 (GRCm39) |
T227A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,001,784 (GRCm39) |
K887M |
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,569,688 (GRCm39) |
N736I |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,478 (GRCm39) |
V120A |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,458,397 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,259 (GRCm39) |
S999T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,155,332 (GRCm39) |
F1171L |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,402 (GRCm39) |
S1783P |
unknown |
Het |
| Nbr1 |
T |
C |
11: 101,456,600 (GRCm39) |
L159P |
probably damaging |
Het |
| Nme9 |
T |
C |
9: 99,351,760 (GRCm39) |
F248S |
possibly damaging |
Het |
| Or4x11 |
C |
T |
2: 89,867,739 (GRCm39) |
L159F |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,830 (GRCm39) |
S164P |
probably damaging |
Het |
| Rasgrf1 |
C |
T |
9: 89,873,683 (GRCm39) |
T664I |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,020,286 (GRCm39) |
D91G |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,080,157 (GRCm39) |
R514G |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,049,169 (GRCm39) |
G3446V |
probably damaging |
Het |
| Tcte2 |
T |
A |
17: 13,942,714 (GRCm39) |
|
probably benign |
Het |
| Trmt10b |
A |
G |
4: 45,308,562 (GRCm39) |
K239E |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,072,322 (GRCm39) |
S189T |
probably benign |
Het |
|
| Other mutations in Hoxb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
F6893:Hoxb1
|
UTSW |
11 |
96,256,728 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1921:Hoxb1
|
UTSW |
11 |
96,256,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2352:Hoxb1
|
UTSW |
11 |
96,257,203 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2921:Hoxb1
|
UTSW |
11 |
96,257,119 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2922:Hoxb1
|
UTSW |
11 |
96,257,119 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2923:Hoxb1
|
UTSW |
11 |
96,257,119 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5530:Hoxb1
|
UTSW |
11 |
96,257,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Hoxb1
|
UTSW |
11 |
96,257,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6720:Hoxb1
|
UTSW |
11 |
96,257,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Hoxb1
|
UTSW |
11 |
96,257,927 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8835:Hoxb1
|
UTSW |
11 |
96,256,627 (GRCm39) |
start gained |
probably benign |
|
|
R9225:Hoxb1
|
UTSW |
11 |
96,257,119 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9625:Hoxb1
|
UTSW |
11 |
96,256,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Hoxb1
|
UTSW |
11 |
96,257,877 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTGTGACATACTGCCGAAAG -3'
(R):5'- TCGACGGATGAAAATAGCTTCC -3'
Sequencing Primer
(F):5'- TAGGGCAAGAGGGTGTCTCC -3'
(R):5'- GACGGATGAAAATAGCTTCCATCTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation