Incidental Mutation 'IGL02465:Mill2'
ID294543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mill2
Ensembl Gene ENSMUSG00000040987
Gene NameMHC I like leukocyte 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL02465
Quality Score
Status
Chromosome7
Chromosomal Location18839966-18865402 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 18858243 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 263 (W263*)
Ref Sequence ENSEMBL: ENSMUSP00000154268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072386] [ENSMUST00000072415] [ENSMUST00000206487] [ENSMUST00000227379] [ENSMUST00000228493]
Predicted Effect probably null
Transcript: ENSMUST00000072386
AA Change: W263*
SMART Domains Protein: ENSMUSP00000072223
Gene: ENSMUSG00000040987
AA Change: W263*

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:MHC_I_3 39 224 2.5e-14 PFAM
Pfam:MHC_I 49 225 1.5e-33 PFAM
IGc1 244 316 7.82e-6 SMART
low complexity region 332 354 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000072415
AA Change: W248*
SMART Domains Protein: ENSMUSP00000072246
Gene: ENSMUSG00000040987
AA Change: W248*

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:MHC_I 34 210 5.9e-33 PFAM
IGc1 229 301 7.82e-6 SMART
low complexity region 317 339 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207014
Predicted Effect probably null
Transcript: ENSMUST00000227379
AA Change: W248*
Predicted Effect probably null
Transcript: ENSMUST00000228493
AA Change: W263*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,200,906 D555G probably benign Het
Anks1b T A 10: 90,163,265 C411* probably null Het
Atp5j A T 16: 84,828,470 Y82N probably damaging Het
Cd19 A T 7: 126,413,558 V221D possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyp4f13 A T 17: 32,929,136 probably null Het
Ddrgk1 T C 2: 130,654,709 D245G probably damaging Het
Eya2 A G 2: 165,715,952 D156G possibly damaging Het
Gm42763 T C 9: 110,545,297 probably benign Het
Gtdc1 T C 2: 44,570,423 Y417C probably damaging Het
Map1b T C 13: 99,433,406 T936A unknown Het
Med23 G A 10: 24,903,743 R906K probably damaging Het
Mup20 T C 4: 62,052,000 N107D possibly damaging Het
Neb A G 2: 52,193,165 probably benign Het
Ntrk2 A G 13: 59,060,380 N680S probably damaging Het
Olfr102 A C 17: 37,313,911 S158A probably damaging Het
Olfr459 C T 6: 41,771,556 V248I probably damaging Het
Pde3a A G 6: 141,249,675 H29R possibly damaging Het
Pik3c3 T C 18: 30,344,060 I878T probably damaging Het
Plxnd1 A G 6: 115,955,742 *1926R probably null Het
Prl8a9 T A 13: 27,559,449 L124F probably damaging Het
Proser3 A T 7: 30,543,533 N206K possibly damaging Het
Rasef G T 4: 73,734,488 T439N probably damaging Het
Slc6a18 T C 13: 73,677,785 T49A probably benign Het
Spag17 A C 3: 100,075,871 T1496P probably damaging Het
Vmn1r63 A C 7: 5,803,039 V198G probably damaging Het
Vmn2r112 T C 17: 22,614,994 S548P probably damaging Het
Vps13a T C 19: 16,710,941 D834G probably benign Het
Vps8 A T 16: 21,521,903 N799I probably damaging Het
Zfhx4 A G 3: 5,399,603 H1632R possibly damaging Het
Zp1 T A 19: 10,920,487 E30V probably benign Het
Other mutations in Mill2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Mill2 APN 7 18856640 missense probably damaging 0.98
IGL02876:Mill2 APN 7 18856507 missense probably damaging 1.00
R1725:Mill2 UTSW 7 18840068 missense probably benign 0.04
R1945:Mill2 UTSW 7 18841494 missense probably benign 0.00
R1964:Mill2 UTSW 7 18856604 missense probably damaging 1.00
R2260:Mill2 UTSW 7 18856488 missense probably benign 0.14
R3160:Mill2 UTSW 7 18856174 missense probably benign 0.32
R3162:Mill2 UTSW 7 18856174 missense probably benign 0.32
R4302:Mill2 UTSW 7 18856531 missense probably damaging 0.98
R4946:Mill2 UTSW 7 18856683 critical splice donor site probably null
R5121:Mill2 UTSW 7 18856666 missense probably benign 0.39
R5365:Mill2 UTSW 7 18858414 missense probably benign 0.01
R5557:Mill2 UTSW 7 18855959 nonsense probably null
R5736:Mill2 UTSW 7 18858249 missense probably benign 0.01
R5998:Mill2 UTSW 7 18840064 missense probably benign 0.00
R6004:Mill2 UTSW 7 18856538 missense probably benign 0.32
R6016:Mill2 UTSW 7 18856448 missense probably benign 0.45
R6045:Mill2 UTSW 7 18856564 missense probably benign 0.01
R6534:Mill2 UTSW 7 18856596 missense possibly damaging 0.91
R6913:Mill2 UTSW 7 18856426 missense probably null 1.00
R7386:Mill2 UTSW 7 18858290 missense probably benign 0.16
Z1088:Mill2 UTSW 7 18856399 splice site probably null
Posted On2015-04-16