Incidental Mutation 'IGL01557:Nutm1'
ID90757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nutm1
Ensembl Gene ENSMUSG00000041358
Gene NameNUT midline carcinoma, family member 1
SynonymsBC125332, Nut
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01557
Quality Score
Status
Chromosome2
Chromosomal Location112247948-112259291 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 112251818 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 304 (N304K)
Ref Sequence ENSEMBL: ENSMUSP00000048263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028554] [ENSMUST00000043970]
Predicted Effect probably benign
Transcript: ENSMUST00000028554
SMART Domains Protein: ENSMUSP00000028554
Gene: ENSMUSG00000027134

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
low complexity region 92 113 N/A INTRINSIC
PlsC 123 234 5.73e-24 SMART
low complexity region 411 422 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043970
AA Change: N304K

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358
AA Change: N304K

DomainStartEndE-ValueType
Pfam:NUT 14 541 1.4e-210 PFAM
low complexity region 840 854 N/A INTRINSIC
Pfam:NUT 900 1123 6.7e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129503
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,968,720 probably null Het
Arl9 T G 5: 77,004,101 probably null Het
Ces3a C A 8: 105,057,751 T439K probably damaging Het
Cyp3a25 A G 5: 145,984,901 W408R probably damaging Het
Defb22 T G 2: 152,486,079 D62A possibly damaging Het
Dnah17 C T 11: 118,073,686 R2422Q probably damaging Het
Ehd3 A G 17: 73,805,280 K13R probably benign Het
Fndc1 T C 17: 7,756,389 E1406G probably damaging Het
Gak A C 5: 108,584,337 Y762D probably damaging Het
Igf2r A G 17: 12,704,635 S1187P possibly damaging Het
Ighmbp2 T C 19: 3,281,472 E68G probably benign Het
Itpr2 T C 6: 146,158,976 T2448A probably damaging Het
Lrrk2 T G 15: 91,699,989 C317W probably damaging Het
Morc1 T A 16: 48,498,766 S278T probably damaging Het
Mrps9 T C 1: 42,851,350 V20A probably benign Het
Olfr761 G A 17: 37,952,851 P58S probably damaging Het
Pcdhb9 T C 18: 37,403,047 V698A probably damaging Het
Pitrm1 C A 13: 6,552,684 D70E probably benign Het
Pkhd1 T C 1: 20,116,979 T3702A possibly damaging Het
Ppm1h A T 10: 122,782,181 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn5 T C 7: 47,081,888 Y411C probably damaging Het
Spon2 G A 5: 33,216,703 A112V probably damaging Het
Zfp648 T A 1: 154,204,680 V195D probably benign Het
Other mutations in Nutm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02190:Nutm1 APN 2 112249406 nonsense probably null
IGL02546:Nutm1 APN 2 112248324 missense probably benign 0.00
IGL02888:Nutm1 APN 2 112250635 missense probably damaging 1.00
IGL03062:Nutm1 APN 2 112248933 missense probably benign 0.16
R1024:Nutm1 UTSW 2 112249929 missense probably benign 0.35
R1314:Nutm1 UTSW 2 112249809 missense probably benign 0.10
R2061:Nutm1 UTSW 2 112255752 nonsense probably null
R4092:Nutm1 UTSW 2 112249464 missense probably damaging 1.00
R4402:Nutm1 UTSW 2 112249809 missense probably damaging 0.99
R4783:Nutm1 UTSW 2 112248936 missense probably benign 0.00
R4784:Nutm1 UTSW 2 112248936 missense probably benign 0.00
R4785:Nutm1 UTSW 2 112248936 missense probably benign 0.00
R5184:Nutm1 UTSW 2 112249000 missense possibly damaging 0.57
R5662:Nutm1 UTSW 2 112249300 missense probably benign 0.01
R5922:Nutm1 UTSW 2 112249314 missense possibly damaging 0.93
R6053:Nutm1 UTSW 2 112249090 missense probably benign 0.01
R6344:Nutm1 UTSW 2 112248902 missense possibly damaging 0.91
R6410:Nutm1 UTSW 2 112248729 missense possibly damaging 0.75
R6515:Nutm1 UTSW 2 112256320 missense probably benign 0.01
R6516:Nutm1 UTSW 2 112251217 missense probably damaging 1.00
R6573:Nutm1 UTSW 2 112251043 critical splice donor site probably null
R6950:Nutm1 UTSW 2 112248559 missense probably benign 0.00
R6975:Nutm1 UTSW 2 112256218 missense probably damaging 1.00
R7033:Nutm1 UTSW 2 112256168 missense probably damaging 1.00
R7070:Nutm1 UTSW 2 112249461 missense probably benign
R7072:Nutm1 UTSW 2 112251847 missense probably benign 0.34
R7140:Nutm1 UTSW 2 112250056 missense probably damaging 0.98
R7143:Nutm1 UTSW 2 112250056 missense probably damaging 0.98
R7294:Nutm1 UTSW 2 112250056 missense probably damaging 0.98
R7296:Nutm1 UTSW 2 112250056 missense probably damaging 0.98
R7297:Nutm1 UTSW 2 112250056 missense probably damaging 0.98
R7613:Nutm1 UTSW 2 112249239 missense probably benign 0.00
X0065:Nutm1 UTSW 2 112248627 missense probably damaging 1.00
X0066:Nutm1 UTSW 2 112248357 missense probably damaging 1.00
Posted On2013-12-09