Incidental Mutation 'IGL01557:Nutm1'
ID 90757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nutm1
Ensembl Gene ENSMUSG00000041358
Gene Name NUT midline carcinoma, family member 1
Synonyms Nut, BC125332
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01557
Quality Score
Status
Chromosome 2
Chromosomal Location 112078293-112089636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112082163 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BHP2
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: 59,101,792 (GRCm39) probably null Het
Arl9 T G 5: 77,151,948 (GRCm39) probably null Het
Ces3a C A 8: 105,784,383 (GRCm39) T439K probably damaging Het
Cyp3a25 A G 5: 145,921,711 (GRCm39) W408R probably damaging Het
Defb22 T G 2: 152,327,999 (GRCm39) D62A possibly damaging Het
Dnah17 C T 11: 117,964,512 (GRCm39) R2422Q probably damaging Het
Ehd3 A G 17: 74,112,275 (GRCm39) K13R probably benign Het
Fndc1 T C 17: 7,975,221 (GRCm39) E1406G probably damaging Het
Gak A C 5: 108,732,203 (GRCm39) Y762D probably damaging Het
Igf2r A G 17: 12,923,522 (GRCm39) S1187P possibly damaging Het
Ighmbp2 T C 19: 3,331,472 (GRCm39) E68G probably benign Het
Itpr2 T C 6: 146,060,474 (GRCm39) T2448A probably damaging Het
Lrrk2 T G 15: 91,584,192 (GRCm39) C317W probably damaging Het
Morc1 T A 16: 48,319,129 (GRCm39) S278T probably damaging Het
Mrps9 T C 1: 42,890,510 (GRCm39) V20A probably benign Het
Or14j8 G A 17: 38,263,742 (GRCm39) P58S probably damaging Het
Pcdhb9 T C 18: 37,536,100 (GRCm39) V698A probably damaging Het
Pitrm1 C A 13: 6,602,720 (GRCm39) D70E probably benign Het
Pkhd1 T C 1: 20,187,203 (GRCm39) T3702A possibly damaging Het
Ppm1h A T 10: 122,618,086 (GRCm39) probably null Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ptpn5 T C 7: 46,731,636 (GRCm39) Y411C probably damaging Het
Spon2 G A 5: 33,374,047 (GRCm39) A112V probably damaging Het
Zfp648 T A 1: 154,080,426 (GRCm39) V195D probably benign Het
Other mutations in Nutm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02190:Nutm1 APN 2 112,079,751 (GRCm39) nonsense probably null
IGL02546:Nutm1 APN 2 112,078,669 (GRCm39) missense probably benign 0.00
IGL02888:Nutm1 APN 2 112,080,980 (GRCm39) missense probably damaging 1.00
IGL03062:Nutm1 APN 2 112,079,278 (GRCm39) missense probably benign 0.16
R1024:Nutm1 UTSW 2 112,080,274 (GRCm39) missense probably benign 0.35
R1314:Nutm1 UTSW 2 112,080,154 (GRCm39) missense probably benign 0.10
R2061:Nutm1 UTSW 2 112,086,097 (GRCm39) nonsense probably null
R4092:Nutm1 UTSW 2 112,079,809 (GRCm39) missense probably damaging 1.00
R4402:Nutm1 UTSW 2 112,080,154 (GRCm39) missense probably damaging 0.99
R4783:Nutm1 UTSW 2 112,079,281 (GRCm39) missense probably benign 0.00
R4784:Nutm1 UTSW 2 112,079,281 (GRCm39) missense probably benign 0.00
R4785:Nutm1 UTSW 2 112,079,281 (GRCm39) missense probably benign 0.00
R5184:Nutm1 UTSW 2 112,079,345 (GRCm39) missense possibly damaging 0.57
R5662:Nutm1 UTSW 2 112,079,645 (GRCm39) missense probably benign 0.01
R5922:Nutm1 UTSW 2 112,079,659 (GRCm39) missense possibly damaging 0.93
R6053:Nutm1 UTSW 2 112,079,435 (GRCm39) missense probably benign 0.01
R6344:Nutm1 UTSW 2 112,079,247 (GRCm39) missense possibly damaging 0.91
R6410:Nutm1 UTSW 2 112,079,074 (GRCm39) missense possibly damaging 0.75
R6515:Nutm1 UTSW 2 112,086,665 (GRCm39) missense probably benign 0.01
R6516:Nutm1 UTSW 2 112,081,562 (GRCm39) missense probably damaging 1.00
R6573:Nutm1 UTSW 2 112,081,388 (GRCm39) critical splice donor site probably null
R6950:Nutm1 UTSW 2 112,078,904 (GRCm39) missense probably benign 0.00
R6975:Nutm1 UTSW 2 112,086,563 (GRCm39) missense probably damaging 1.00
R7033:Nutm1 UTSW 2 112,086,513 (GRCm39) missense probably damaging 1.00
R7070:Nutm1 UTSW 2 112,079,806 (GRCm39) missense probably benign
R7072:Nutm1 UTSW 2 112,082,192 (GRCm39) missense probably benign 0.34
R7140:Nutm1 UTSW 2 112,080,401 (GRCm39) missense probably damaging 0.98
R7143:Nutm1 UTSW 2 112,080,401 (GRCm39) missense probably damaging 0.98
R7294:Nutm1 UTSW 2 112,080,401 (GRCm39) missense probably damaging 0.98
R7296:Nutm1 UTSW 2 112,080,401 (GRCm39) missense probably damaging 0.98
R7297:Nutm1 UTSW 2 112,080,401 (GRCm39) missense probably damaging 0.98
R7613:Nutm1 UTSW 2 112,079,584 (GRCm39) missense probably benign 0.00
R8162:Nutm1 UTSW 2 112,078,817 (GRCm39) missense probably benign 0.02
R8252:Nutm1 UTSW 2 112,082,174 (GRCm39) missense probably damaging 1.00
R8713:Nutm1 UTSW 2 112,081,667 (GRCm39) missense possibly damaging 0.86
R8857:Nutm1 UTSW 2 112,081,523 (GRCm39) missense probably benign 0.41
R9326:Nutm1 UTSW 2 112,078,692 (GRCm39) missense possibly damaging 0.86
X0065:Nutm1 UTSW 2 112,078,972 (GRCm39) missense probably damaging 1.00
X0066:Nutm1 UTSW 2 112,078,702 (GRCm39) missense probably damaging 1.00
Z1177:Nutm1 UTSW 2 112,086,061 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09