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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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