Incidental Mutation 'IGL02970:Ncmap'
ID365756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncmap
Ensembl Gene ENSMUSG00000043924
Gene Namenoncompact myelin associated protein
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02970
Quality Score
Status
Chromosome4
Chromosomal Location135369576-135398227 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135377018 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 17 (T17A)
Ref Sequence ENSEMBL: ENSMUSP00000118237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064481] [ENSMUST00000105857] [ENSMUST00000105858] [ENSMUST00000105859] [ENSMUST00000105860] [ENSMUST00000123632] [ENSMUST00000154518]
Predicted Effect probably damaging
Transcript: ENSMUST00000064481
AA Change: T17A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070780
Gene: ENSMUSG00000043924
AA Change: T17A

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105857
AA Change: T17A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101483
Gene: ENSMUSG00000043924
AA Change: T17A

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105858
AA Change: T17A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101484
Gene: ENSMUSG00000043924
AA Change: T17A

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105859
AA Change: T17A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101485
Gene: ENSMUSG00000043924
AA Change: T17A

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105860
AA Change: T35A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101486
Gene: ENSMUSG00000043924
AA Change: T35A

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
low complexity region 82 97 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120561
Predicted Effect probably damaging
Transcript: ENSMUST00000123632
AA Change: T17A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118237
Gene: ENSMUSG00000043924
AA Change: T17A

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 64 73 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134717
Predicted Effect possibly damaging
Transcript: ENSMUST00000154518
AA Change: T17A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,187,589 G5S probably damaging Het
A2ml1 A T 6: 128,569,979 F396I probably damaging Het
BC051019 T A 7: 109,716,055 N331I probably benign Het
Crocc G A 4: 141,030,246 S912L possibly damaging Het
Dcaf4 A G 12: 83,529,215 D46G probably damaging Het
Dido1 C T 2: 180,689,415 R80Q probably damaging Het
Dnase2b A G 3: 146,582,506 V278A probably damaging Het
Drosha C T 15: 12,913,956 L1106F probably damaging Het
Dsc3 C A 18: 19,968,260 W692L probably damaging Het
F2 T A 2: 91,625,551 Y579F possibly damaging Het
Fam126b T C 1: 58,539,617 E258G probably damaging Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gm9772 A G 17: 22,006,559 F120S probably damaging Het
Gsdma3 T C 11: 98,632,993 S251P probably benign Het
Itgam G A 7: 128,086,043 E443K probably benign Het
Kif18a T C 2: 109,287,888 V16A probably damaging Het
Lrrn3 T G 12: 41,452,360 S653R probably benign Het
Map1b A T 13: 99,430,734 Y1826* probably null Het
Mbnl1 T C 3: 60,613,423 F139S probably damaging Het
Micu3 T C 8: 40,382,130 Y509H possibly damaging Het
Oas1h T A 5: 120,861,635 M61K possibly damaging Het
Otog T A 7: 46,295,867 W2183R probably benign Het
Pcdh15 T C 10: 74,290,962 probably benign Het
Plekho1 C T 3: 95,990,902 V150I probably damaging Het
Ppargc1b A G 18: 61,298,766 S1004P probably damaging Het
Prf1 T C 10: 61,300,178 S78P probably benign Het
Prss12 A G 3: 123,482,762 S347G probably benign Het
Rai1 T C 11: 60,185,733 S208P probably damaging Het
Sgms1 A G 19: 32,159,765 Y134H probably damaging Het
Sult2a4 A G 7: 13,909,906 probably benign Het
T C T 17: 8,435,385 A134V probably damaging Het
Thoc5 A G 11: 4,904,201 T187A probably damaging Het
Ticrr A G 7: 79,695,171 S1595G probably benign Het
Tiprl A G 1: 165,236,746 S30P probably damaging Het
Ttl T C 2: 129,076,070 S151P probably damaging Het
Ttn T A 2: 76,752,990 T22520S probably damaging Het
Usp54 G A 14: 20,577,472 S420L probably damaging Het
Vmn1r62 T A 7: 5,675,568 Y83N possibly damaging Het
Other mutations in Ncmap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5248:Ncmap UTSW 4 135380119 splice site probably null
Posted On2015-12-18