Incidental Mutation 'IGL02888:Nutm1'
ID363066
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? Probably non essential (E-score: 0.193) question?
Stock #IGL02888
Quality Score
Status
Chromosome2
Chromosomal Location112247948-112259291 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 112250635 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 438 (L438Q)
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 damaging
Transcript: ENSMUST00000043970
AA Change: L438Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358
AA Change: L438Q

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 43,651,573 H345R probably damaging Het
Afap1l1 T A 18: 61,748,808 Y272F probably damaging Het
AI661453 C A 17: 47,467,404 probably benign Het
Ajap1 T G 4: 153,432,261 I208L probably benign Het
Aldh3b2 G A 19: 3,980,083 V356M probably benign Het
Angptl7 T A 4: 148,496,331 probably benign Het
Atp2a3 G A 11: 72,977,128 probably benign Het
Birc2 T C 9: 7,819,558 D451G probably benign Het
Brpf3 G A 17: 28,828,391 R1043H probably damaging Het
Cd177 A G 7: 24,758,437 L132P probably damaging Het
Chsy3 A G 18: 59,409,995 D735G probably benign Het
Cldn8 A T 16: 88,562,383 I218K probably benign Het
Cltc T C 11: 86,757,297 probably benign Het
Col22a1 T C 15: 71,846,219 H619R unknown Het
Crxos G A 7: 15,902,930 E143K possibly damaging Het
Dcp1b A G 6: 119,220,087 probably benign Het
Ddc A G 11: 11,822,297 probably benign Het
Dnajc13 A T 9: 104,180,062 probably benign Het
Dnajc27 C T 12: 4,089,186 H75Y possibly damaging Het
Fgd3 C T 13: 49,281,816 probably null Het
Gcc2 A G 10: 58,294,828 D1414G probably damaging Het
Gtf3c2 G A 5: 31,173,825 P169L probably damaging Het
Ighv1-76 T A 12: 115,847,946 S96C probably damaging Het
Lmbrd1 T A 1: 24,714,972 I206K possibly damaging Het
Lypd5 A G 7: 24,352,619 S120G probably damaging Het
Mgat4b T A 11: 50,232,332 Y249N probably damaging Het
Msh4 A T 3: 153,896,913 L32* probably null Het
Muc4 A G 16: 32,755,282 probably benign Het
Myo6 A G 9: 80,269,731 probably benign Het
Nenf T C 1: 191,309,921 T113A probably benign Het
Nup85 A G 11: 115,578,800 D75G possibly damaging Het
Oas1h A T 5: 120,861,547 I32F probably benign Het
Oasl1 G A 5: 114,937,182 V434M probably damaging Het
Olfr1412 T C 1: 92,589,203 L291P probably damaging Het
Olfr448 A G 6: 42,897,329 N293D probably damaging Het
Pde2a C A 7: 101,505,069 H549Q probably damaging Het
Phkb G T 8: 85,935,472 probably null Het
Pigm T C 1: 172,377,647 C317R probably damaging Het
Ppl A T 16: 5,100,407 S470R possibly damaging Het
Pramef17 G A 4: 143,994,099 R91W probably benign Het
Slc13a4 A T 6: 35,268,840 D623E probably benign Het
Stx11 A G 10: 12,941,615 S122P possibly damaging Het
Sytl3 A G 17: 6,733,084 T218A probably benign Het
Tango6 A G 8: 106,720,665 D565G probably damaging Het
Tex14 T C 11: 87,527,912 probably null Het
Tinag T C 9: 77,031,713 D161G probably benign Het
Vcpip1 T C 1: 9,724,786 D1120G probably damaging Het
Zfp446 G A 7: 12,979,328 A98T probably damaging Het
Other mutations in Nutm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01557:Nutm1 APN 2 112251818 missense probably benign 0.36
IGL02190:Nutm1 APN 2 112249406 nonsense probably null
IGL02546:Nutm1 APN 2 112248324 missense probably benign 0.00
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 not run
R7140:Nutm1 UTSW 2 112250056 missense not run
R7143:Nutm1 UTSW 2 112250056 missense not run
X0065:Nutm1 UTSW 2 112248627 missense probably damaging 1.00
X0066:Nutm1 UTSW 2 112248357 missense probably damaging 1.00
Posted On2015-12-18