Incidental Mutation 'IGL01605:Mnx1'
ID278746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mnx1
Ensembl Gene ENSMUSG00000001566
Gene Namemotor neuron and pancreas homeobox 1
SynonymsHlxb9, HB9, MNR2
Accession Numbers

Genbank: NM_019944; MGI: 109160

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01605
Quality Score
Status
Chromosome5
Chromosomal Location29473034-29478470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29477593 bp
ZygosityHeterozygous
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]
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brip1 T A 11: 86,062,004 T984S possibly damaging Het
Cdh17 T C 4: 11,795,670 Y417H probably damaging Het
Chd7 T A 4: 8,833,834 I1196N probably damaging Het
Cyp3a57 T C 5: 145,387,044 F447S probably damaging Het
Dock8 C T 19: 25,089,888 probably benign Het
Fam163b A G 2: 27,112,676 F103S probably damaging Het
G0s2 A G 1: 193,272,656 L40P probably damaging Het
Gm2046 A T 12: 87,973,760 noncoding transcript Het
Gucy1b1 C T 3: 82,035,353 R494Q probably benign Het
Hsd17b1 T C 11: 101,078,929 V89A probably damaging Het
Iqcg T C 16: 33,016,978 probably benign Het
Lmo7 T C 14: 101,910,756 probably benign Het
Mmp17 A G 5: 129,601,944 D331G probably benign Het
Msh2 T C 17: 87,696,489 probably benign Het
Pabpc1 A G 15: 36,599,306 Y382H probably benign Het
Prl7b1 A G 13: 27,602,044 S214P possibly damaging Het
Ptk2 C T 15: 73,264,339 probably benign Het
Rbpj-ps3 T C 6: 46,530,091 probably benign Het
Sgsm1 A T 5: 113,285,665 M162K possibly damaging Het
Skint2 A G 4: 112,625,994 T199A probably benign Het
Stim1 A G 7: 102,386,115 D100G possibly damaging Het
Taar5 C T 10: 23,971,064 T120I probably benign Het
Trhde A G 10: 114,787,943 V352A probably benign Het
Ubap2 T A 4: 41,227,237 D160V probably damaging Het
Vmn2r18 A G 5: 151,586,641 V89A possibly damaging Het
Wbp1l A G 19: 46,654,400 D264G possibly damaging Het
Other mutations in Mnx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01602:Mnx1 APN 5 29477593 missense unknown
3370:Mnx1 UTSW 5 29474887 missense unknown
PIT4472001:Mnx1 UTSW 5 29474107 missense unknown
R1752:Mnx1 UTSW 5 29477729 missense unknown
R1785:Mnx1 UTSW 5 29474189 missense unknown
R1786:Mnx1 UTSW 5 29474189 missense unknown
R1854:Mnx1 UTSW 5 29477782 missense unknown
R1866:Mnx1 UTSW 5 29474045 missense unknown
R1893:Mnx1 UTSW 5 29477830 missense unknown
R1899:Mnx1 UTSW 5 29473957 missense unknown
R2131:Mnx1 UTSW 5 29474189 missense unknown
R4698:Mnx1 UTSW 5 29474059 missense unknown
R4713:Mnx1 UTSW 5 29478131 missense probably damaging 1.00
R5171:Mnx1 UTSW 5 29474853 missense unknown
R6126:Mnx1 UTSW 5 29478112 missense possibly damaging 0.94
R7427:Mnx1 UTSW 5 29474213 missense unknown
Z1176:Mnx1 UTSW 5 29474088 missense unknown
Z1176:Mnx1 UTSW 5 29474174 nonsense probably null
Posted On2015-04-16