Incidental Mutation 'R8548:Dmbx1'
| ID |
659732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmbx1
|
| Ensembl Gene |
ENSMUSG00000028707 |
| Gene Name |
diencephalon/mesencephalon homeobox 1 |
| Synonyms |
Mbx, Cdmx, Atx, Otx3, Dmbx1 |
| MMRRC Submission |
068513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
R8548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115772316-115797123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115777512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 112
(V112E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064806]
[ENSMUST00000084338]
[ENSMUST00000124071]
|
| AlphaFold |
Q91ZK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064806
AA Change: V112E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134457
Gene: ENSMUSG00000028707
AA Change: V112E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
HOX
|
66 |
128 |
6.07e-26 |
SMART |
|
low complexity region
|
172 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
348 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
349 |
368 |
9.2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084338
AA Change: V117E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081366
Gene: ENSMUSG00000028707
AA Change: V117E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
HOX
|
71 |
133 |
6.07e-26 |
SMART |
|
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
353 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
355 |
372 |
3e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124071
AA Change: V112E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120320
Gene: ENSMUSG00000028707
AA Change: V112E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
HOX
|
66 |
128 |
6.07e-26 |
SMART |
|
low complexity region
|
172 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
348 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
349 |
368 |
9.2e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele display partial postnatal lethality, impaired suckling and postnatal growth, and reduced female fertility. When raised in isolation, mice homozygous for another null allele exhibit decreased body weight, decreased food consumption, and small adipocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
T |
5: 121,658,165 (GRCm39) |
L376Q |
probably damaging |
Het |
| Akirin1 |
A |
G |
4: 123,631,831 (GRCm39) |
M179T |
possibly damaging |
Het |
| Ap5b1 |
G |
T |
19: 5,621,123 (GRCm39) |
V848L |
possibly damaging |
Het |
| Apoa2 |
T |
A |
1: 171,053,798 (GRCm39) |
M91K |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cdc20 |
A |
C |
4: 118,293,535 (GRCm39) |
S160A |
possibly damaging |
Het |
| Cftr |
G |
T |
6: 18,273,698 (GRCm39) |
V839L |
possibly damaging |
Het |
| Ctf1 |
A |
T |
7: 127,316,564 (GRCm39) |
H171L |
probably benign |
Het |
| Dmac2 |
T |
A |
7: 25,324,217 (GRCm39) |
M225K |
probably damaging |
Het |
| Eloa |
T |
C |
4: 135,732,988 (GRCm39) |
K754R |
probably damaging |
Het |
| Ern2 |
G |
A |
7: 121,777,062 (GRCm39) |
T286I |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,659 (GRCm39) |
D845G |
probably damaging |
Het |
| Fbxl6 |
T |
A |
15: 76,421,542 (GRCm39) |
M232L |
possibly damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,400 (GRCm39) |
I125K |
probably damaging |
Het |
| Hoxa2 |
G |
A |
6: 52,140,098 (GRCm39) |
T296I |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,713,767 (GRCm39) |
M87V |
probably benign |
Het |
| Ilkap |
G |
T |
1: 91,318,882 (GRCm39) |
D31E |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
| Macc1 |
T |
A |
12: 119,414,091 (GRCm39) |
S756T |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,499 (GRCm39) |
D545G |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,854,572 (GRCm39) |
N1390D |
probably benign |
Het |
| Mgat5 |
G |
A |
1: 127,248,409 (GRCm39) |
V104M |
possibly damaging |
Het |
| Myoz2 |
T |
A |
3: 122,827,916 (GRCm39) |
M1L |
possibly damaging |
Het |
| Nmt1 |
A |
G |
11: 102,934,052 (GRCm39) |
K64E |
possibly damaging |
Het |
| Nr6a1 |
C |
A |
2: 38,619,550 (GRCm39) |
Q448H |
probably damaging |
Het |
| Nr6a1 |
T |
G |
2: 38,619,551 (GRCm39) |
Q448P |
probably damaging |
Het |
| Odf2 |
T |
C |
2: 29,783,526 (GRCm39) |
|
probably null |
Het |
| Or8g37 |
T |
A |
9: 39,731,537 (GRCm39) |
C201S |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,566 (GRCm39) |
N476S |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,732,268 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
T |
6: 115,934,558 (GRCm39) |
D1792N |
probably damaging |
Het |
| Prdm11 |
C |
T |
2: 92,843,103 (GRCm39) |
V119M |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,416 (GRCm39) |
F218L |
probably benign |
Het |
| Rflnb |
A |
G |
11: 75,913,047 (GRCm39) |
Y114H |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,946,581 (GRCm39) |
I101N |
unknown |
Het |
| Sp8 |
A |
C |
12: 118,812,910 (GRCm39) |
Y255S |
possibly damaging |
Het |
| Srfbp1 |
G |
A |
18: 52,621,463 (GRCm39) |
V175I |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,693,050 (GRCm39) |
D359N |
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,217,733 (GRCm39) |
I496V |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 84,908,653 (GRCm39) |
P1018S |
possibly damaging |
Het |
| Usp7 |
A |
T |
16: 8,529,939 (GRCm39) |
V142E |
possibly damaging |
Het |
|
| Other mutations in Dmbx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00961:Dmbx1
|
APN |
4 |
115,777,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02850:Dmbx1
|
APN |
4 |
115,775,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Dmbx1
|
UTSW |
4 |
115,775,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0014:Dmbx1
|
UTSW |
4 |
115,775,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0267:Dmbx1
|
UTSW |
4 |
115,775,309 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1164:Dmbx1
|
UTSW |
4 |
115,775,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Dmbx1
|
UTSW |
4 |
115,777,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Dmbx1
|
UTSW |
4 |
115,777,873 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5383:Dmbx1
|
UTSW |
4 |
115,775,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5882:Dmbx1
|
UTSW |
4 |
115,777,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5999:Dmbx1
|
UTSW |
4 |
115,775,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7064:Dmbx1
|
UTSW |
4 |
115,775,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Dmbx1
|
UTSW |
4 |
115,780,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:Dmbx1
|
UTSW |
4 |
115,781,104 (GRCm39) |
intron |
probably benign |
|
|
R9441:Dmbx1
|
UTSW |
4 |
115,780,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9744:Dmbx1
|
UTSW |
4 |
115,777,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCTCAGTTGAAGTTCAGC -3'
(R):5'- CAACTGTATCTTGCAGATAGGTGC -3'
Sequencing Primer
(F):5'- TTCAGCAGGAGGATCACCACTG -3'
(R):5'- ATCTTGCAGATAGGTGCTAGCCATC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation