Incidental Mutation 'R0515:Mill1'
ID 48187
Institutional Source Beutler Lab
Gene Symbol Mill1
Ensembl Gene ENSMUSG00000054005
Gene Name MHC I like leukocyte 1
Synonyms 5530400I18Rik
MMRRC Submission 038709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R0515 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 17979272-18000017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17998798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 336 (V336A)
Ref Sequence ENSEMBL: ENSMUSP00000069083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066780]
AlphaFold Q8HWE7
Predicted Effect probably benign
Transcript: ENSMUST00000066780
AA Change: V336A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000069083
Gene: ENSMUSG00000054005
AA Change: V336A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:MHC_I 60 236 3.8e-33 PFAM
IGc1 255 327 3.53e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign Het
Other mutations in Mill1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Mill1 APN 7 17,998,566 (GRCm39) missense possibly damaging 0.91
IGL01313:Mill1 APN 7 17,998,558 (GRCm39) missense possibly damaging 0.82
IGL01417:Mill1 APN 7 17,998,708 (GRCm39) missense probably benign 0.18
IGL01997:Mill1 APN 7 17,989,814 (GRCm39) missense probably damaging 1.00
IGL02282:Mill1 APN 7 17,997,129 (GRCm39) critical splice donor site probably null
IGL03126:Mill1 APN 7 17,989,832 (GRCm39) missense probably benign 0.33
IGL03197:Mill1 APN 7 17,998,590 (GRCm39) missense probably benign 0.02
R0513:Mill1 UTSW 7 17,998,802 (GRCm39) nonsense probably null
R1460:Mill1 UTSW 7 17,996,595 (GRCm39) missense probably damaging 1.00
R1589:Mill1 UTSW 7 17,979,572 (GRCm39) missense probably benign 0.01
R2192:Mill1 UTSW 7 17,998,544 (GRCm39) nonsense probably null
R3704:Mill1 UTSW 7 17,996,978 (GRCm39) missense possibly damaging 0.91
R3758:Mill1 UTSW 7 17,996,628 (GRCm39) critical splice donor site probably null
R4685:Mill1 UTSW 7 17,989,853 (GRCm39) missense probably damaging 0.98
R4753:Mill1 UTSW 7 17,996,472 (GRCm39) missense probably benign 0.28
R5763:Mill1 UTSW 7 17,979,587 (GRCm39) missense probably benign 0.03
R5938:Mill1 UTSW 7 17,996,613 (GRCm39) missense probably benign 0.00
R7757:Mill1 UTSW 7 17,996,391 (GRCm39) missense probably benign 0.02
R8094:Mill1 UTSW 7 17,989,835 (GRCm39) missense probably benign 0.01
R8972:Mill1 UTSW 7 17,996,982 (GRCm39) missense probably benign 0.00
R9620:Mill1 UTSW 7 17,997,027 (GRCm39) missense probably benign 0.01
R9694:Mill1 UTSW 7 17,997,027 (GRCm39) missense probably benign 0.01
Z1176:Mill1 UTSW 7 17,979,424 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- ACACTGACATGCCGGGCTTTTC -3'
(R):5'- AGTAGCATTGCACTTCCACCAGG -3'

Sequencing Primer
(F):5'- CCTGACCTGGCTTCAGTATAGAAAG -3'
(R):5'- CATTCACCAGTGTGGTAAAATGG -3'
Posted On 2013-06-12