Incidental Mutation 'IGL01602:Mnx1'
ID |
278776 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mnx1
|
Ensembl Gene |
ENSMUSG00000001566 |
Gene Name |
motor neuron and pancreas homeobox 1 |
Synonyms |
HB9, MNR2, Hlxb9 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01602
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
29678821-29683468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29682591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 228
(D228G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001608]
[ENSMUST00000165512]
|
AlphaFold |
Q9QZW9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000001608
AA Change: D228G
|
SMART Domains |
Protein: ENSMUSP00000001608 Gene: ENSMUSG00000001566 AA Change: D228G
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
64 |
N/A |
INTRINSIC |
low complexity region
|
90 |
158 |
N/A |
INTRINSIC |
low complexity region
|
168 |
176 |
N/A |
INTRINSIC |
HOX
|
241 |
303 |
1.39e-25 |
SMART |
low complexity region
|
346 |
366 |
N/A |
INTRINSIC |
low complexity region
|
380 |
392 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082612
|
Predicted Effect |
unknown
Transcript: ENSMUST00000165512
AA Change: D228G
|
SMART Domains |
Protein: ENSMUSP00000129503 Gene: ENSMUSG00000001566 AA Change: D228G
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
64 |
N/A |
INTRINSIC |
low complexity region
|
90 |
158 |
N/A |
INTRINSIC |
low complexity region
|
168 |
176 |
N/A |
INTRINSIC |
HOX
|
241 |
303 |
1.39e-25 |
SMART |
low complexity region
|
346 |
366 |
N/A |
INTRINSIC |
low complexity region
|
380 |
392 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] PHENOTYPE: Homozygous null mice die at birth exhibiting pancreas dorsal lobe agenesis, small pancreatic islets, and aberrant beta-cell function and motor axon guidance. Mice homozygous for other reporter/null alleles show neonatal death, atelectasis, and impaired motor neuron and pancreas differentiation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(6) : Targeted, knock-out(1) Targeted, other(5) |
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
T |
7: 66,538,159 (GRCm39) |
M242L |
probably benign |
Het |
Brip1 |
T |
A |
11: 85,952,830 (GRCm39) |
T984S |
possibly damaging |
Het |
Cdh17 |
T |
C |
4: 11,795,670 (GRCm39) |
Y417H |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,833,834 (GRCm39) |
I1196N |
probably damaging |
Het |
Cyp3a57 |
T |
C |
5: 145,323,854 (GRCm39) |
F447S |
probably damaging |
Het |
Dnah12 |
C |
T |
14: 26,431,430 (GRCm39) |
|
probably benign |
Het |
Dock8 |
C |
T |
19: 25,067,252 (GRCm39) |
|
probably benign |
Het |
Eif1ad5 |
A |
T |
12: 87,940,530 (GRCm39) |
|
noncoding transcript |
Het |
Fam163b |
A |
G |
2: 27,002,688 (GRCm39) |
F103S |
probably damaging |
Het |
G0s2 |
A |
G |
1: 192,954,964 (GRCm39) |
L40P |
probably damaging |
Het |
Gucy1b1 |
C |
T |
3: 81,942,660 (GRCm39) |
R494Q |
probably benign |
Het |
Hsd17b1 |
T |
C |
11: 100,969,755 (GRCm39) |
V89A |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,837,348 (GRCm39) |
|
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,148,192 (GRCm39) |
|
probably benign |
Het |
Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
Msantd2 |
A |
G |
9: 37,428,736 (GRCm39) |
E101G |
probably benign |
Het |
Msh2 |
T |
C |
17: 88,003,917 (GRCm39) |
|
probably benign |
Het |
Pabpc1 |
A |
G |
15: 36,599,550 (GRCm39) |
Y382H |
probably benign |
Het |
Prl7b1 |
A |
G |
13: 27,786,027 (GRCm39) |
S214P |
possibly damaging |
Het |
Rbpj-ps3 |
T |
C |
6: 46,507,025 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,433,531 (GRCm39) |
M162K |
possibly damaging |
Het |
Skint2 |
A |
G |
4: 112,483,191 (GRCm39) |
T199A |
probably benign |
Het |
Slc24a1 |
T |
A |
9: 64,833,463 (GRCm39) |
D1044V |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,035,322 (GRCm39) |
D100G |
possibly damaging |
Het |
Taar5 |
C |
T |
10: 23,846,962 (GRCm39) |
T120I |
probably benign |
Het |
Trhde |
A |
G |
10: 114,623,848 (GRCm39) |
V352A |
probably benign |
Het |
Ubap2 |
T |
A |
4: 41,227,237 (GRCm39) |
D160V |
probably damaging |
Het |
Vmn2r18 |
A |
G |
5: 151,510,106 (GRCm39) |
V89A |
possibly damaging |
Het |
Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
possibly damaging |
Het |
|
Other mutations in Mnx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01605:Mnx1
|
APN |
5 |
29,682,591 (GRCm39) |
missense |
unknown |
|
3370:Mnx1
|
UTSW |
5 |
29,679,885 (GRCm39) |
missense |
unknown |
|
PIT4472001:Mnx1
|
UTSW |
5 |
29,679,105 (GRCm39) |
missense |
unknown |
|
R1752:Mnx1
|
UTSW |
5 |
29,682,727 (GRCm39) |
missense |
unknown |
|
R1785:Mnx1
|
UTSW |
5 |
29,679,187 (GRCm39) |
missense |
unknown |
|
R1786:Mnx1
|
UTSW |
5 |
29,679,187 (GRCm39) |
missense |
unknown |
|
R1854:Mnx1
|
UTSW |
5 |
29,682,780 (GRCm39) |
missense |
unknown |
|
R1866:Mnx1
|
UTSW |
5 |
29,679,043 (GRCm39) |
missense |
unknown |
|
R1893:Mnx1
|
UTSW |
5 |
29,682,828 (GRCm39) |
missense |
unknown |
|
R1899:Mnx1
|
UTSW |
5 |
29,678,955 (GRCm39) |
missense |
unknown |
|
R2131:Mnx1
|
UTSW |
5 |
29,679,187 (GRCm39) |
missense |
unknown |
|
R4698:Mnx1
|
UTSW |
5 |
29,679,057 (GRCm39) |
missense |
unknown |
|
R4713:Mnx1
|
UTSW |
5 |
29,683,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R5171:Mnx1
|
UTSW |
5 |
29,679,851 (GRCm39) |
missense |
unknown |
|
R6126:Mnx1
|
UTSW |
5 |
29,683,110 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7427:Mnx1
|
UTSW |
5 |
29,679,211 (GRCm39) |
missense |
unknown |
|
R8792:Mnx1
|
UTSW |
5 |
29,683,372 (GRCm39) |
start gained |
probably benign |
|
Z1176:Mnx1
|
UTSW |
5 |
29,679,172 (GRCm39) |
nonsense |
probably null |
|
Z1176:Mnx1
|
UTSW |
5 |
29,679,086 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-04-16 |