Incidental Mutation 'IGL00272:Unc5a'
ID14717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc5a
Ensembl Gene ENSMUSG00000025876
Gene Nameunc-5 netrin receptor A
SynonymsUnc5h1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00272
Quality Score
Status
Chromosome13
Chromosomal Location54949411-55006018 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54995820 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 106 (I106V)
Ref Sequence ENSEMBL: ENSMUSP00000105621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026994] [ENSMUST00000109994] [ENSMUST00000136852]
Predicted Effect probably benign
Transcript: ENSMUST00000026994
AA Change: I106V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: I106V

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SCOP:d1biha1 44 143 1e-4 SMART
IG 155 240 1.8e-5 SMART
TSP1 245 296 1.25e-14 SMART
TSP1 301 350 1.98e-8 SMART
transmembrane domain 360 382 N/A INTRINSIC
ZU5 495 598 3.68e-58 SMART
DEATH 805 896 5.86e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109994
AA Change: I106V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: I106V

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SCOP:d1biha1 44 143 1e-4 SMART
IG 155 240 1.8e-5 SMART
TSP1 245 294 1.98e-8 SMART
transmembrane domain 305 327 N/A INTRINSIC
ZU5 439 542 3.68e-58 SMART
DEATH 749 840 5.86e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136852
SMART Domains Protein: ENSMUSP00000116585
Gene: ENSMUSG00000025876

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
TSP1 20 70 1.23e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 116,973,540 V41A probably damaging Het
4932431P20Rik G T 7: 29,537,622 noncoding transcript Het
AI481877 A G 4: 59,086,961 F284L probably benign Het
Ankrd12 C T 17: 65,986,174 V755I probably benign Het
Arrdc3 T C 13: 80,890,572 S218P probably damaging Het
Bzw1 T C 1: 58,402,942 V292A possibly damaging Het
Cers2 T C 3: 95,321,900 Y228H probably damaging Het
Egf C T 3: 129,711,449 M625I probably benign Het
Fbxw8 A T 5: 118,068,097 H595Q probably benign Het
Fshr T A 17: 88,985,271 I660F probably benign Het
Gapdh C T 6: 125,162,507 V267M probably damaging Het
Ginm1 T C 10: 7,792,696 probably benign Het
Gja1 A G 10: 56,388,322 D259G probably benign Het
Gm21814 T A 6: 149,582,004 noncoding transcript Het
Gm26870 T C 9: 3,002,340 probably benign Het
Habp2 G A 19: 56,317,832 C482Y probably damaging Het
Knl1 A C 2: 119,064,083 N79T probably damaging Het
Lama3 G A 18: 12,491,548 C1450Y probably damaging Het
Lats2 T C 14: 57,691,569 T950A probably benign Het
Map2k2 T A 10: 81,121,073 M95K probably damaging Het
Med12l T A 3: 59,042,336 I160N probably damaging Het
Olfr1158 A T 2: 87,990,438 D109V probably damaging Het
Olfr1160 A G 2: 88,006,644 S45P probably damaging Het
Pes1 T C 11: 3,976,803 S362P probably damaging Het
Pih1h3b A G X: 140,105,962 I197V probably benign Het
Ppp6r2 G T 15: 89,285,813 A844S probably benign Het
Rnf130 A G 11: 50,093,796 I308V probably damaging Het
Scn11a T C 9: 119,816,603 N95S probably damaging Het
Skint2 A G 4: 112,624,212 T91A probably damaging Het
Smg1 A G 7: 118,198,271 probably benign Het
Snapc1 A G 12: 73,968,374 probably null Het
Stard10 A T 7: 101,321,966 Y47F probably damaging Het
Tenm3 C T 8: 48,417,060 V233I probably damaging Het
Tex14 G A 11: 87,535,643 S1165N probably damaging Het
Vps54 T A 11: 21,277,909 Y275N possibly damaging Het
Other mutations in Unc5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Unc5a APN 13 54995815 missense possibly damaging 0.89
IGL00924:Unc5a APN 13 55004514 missense probably damaging 0.99
IGL01411:Unc5a APN 13 55002928 missense probably damaging 1.00
IGL01511:Unc5a APN 13 55004816 missense probably damaging 0.97
IGL02430:Unc5a APN 13 55002482 missense probably damaging 1.00
IGL02996:Unc5a APN 13 54996178 missense probably damaging 0.99
IGL03188:Unc5a APN 13 54999503 missense probably damaging 0.98
PIT1430001:Unc5a UTSW 13 55003896 missense probably damaging 1.00
PIT4378001:Unc5a UTSW 13 54995868 missense possibly damaging 0.95
R0009:Unc5a UTSW 13 55002879 missense probably damaging 1.00
R0009:Unc5a UTSW 13 55002879 missense probably damaging 1.00
R0028:Unc5a UTSW 13 55003913 missense possibly damaging 0.70
R0505:Unc5a UTSW 13 55004954 missense probably damaging 1.00
R0744:Unc5a UTSW 13 55003933 missense possibly damaging 0.92
R0745:Unc5a UTSW 13 55005255 frame shift probably null
R0836:Unc5a UTSW 13 55003933 missense possibly damaging 0.92
R1018:Unc5a UTSW 13 54990952 missense possibly damaging 0.81
R1432:Unc5a UTSW 13 55004472 unclassified probably benign
R1469:Unc5a UTSW 13 54996419 missense probably damaging 1.00
R1469:Unc5a UTSW 13 54996419 missense probably damaging 1.00
R1691:Unc5a UTSW 13 55002924 missense probably damaging 1.00
R2132:Unc5a UTSW 13 54991083 missense probably damaging 0.96
R4020:Unc5a UTSW 13 55003369 missense probably damaging 1.00
R4080:Unc5a UTSW 13 55004481 missense possibly damaging 0.62
R4720:Unc5a UTSW 13 55003883 missense probably null 1.00
R4876:Unc5a UTSW 13 54997229 missense probably benign
R4953:Unc5a UTSW 13 54999870 missense probably benign 0.02
R5112:Unc5a UTSW 13 55003418 critical splice donor site probably null
R5593:Unc5a UTSW 13 55004934 missense possibly damaging 0.91
R5903:Unc5a UTSW 13 54999690 missense possibly damaging 0.92
R6521:Unc5a UTSW 13 55004935 missense probably benign 0.01
R6723:Unc5a UTSW 13 54995889 missense probably benign 0.23
R7038:Unc5a UTSW 13 55004484 missense probably damaging 1.00
R7065:Unc5a UTSW 13 54991083 missense probably damaging 1.00
R7241:Unc5a UTSW 13 54991020 missense probably damaging 1.00
R7365:Unc5a UTSW 13 54996573 missense possibly damaging 0.80
R7487:Unc5a UTSW 13 54996549 missense probably benign 0.40
Posted On2012-12-06