Incidental Mutation 'R5066:Mndal'
ID 388311
Institutional Source Beutler Lab
Gene Symbol Mndal
Ensembl Gene ENSMUSG00000090272
Gene Name myeloid nuclear differentiation antigen like
Synonyms Ifi212
MMRRC Submission 042656-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5066 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 173684786-173708038 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 173703229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 59 (A59S)
Ref Sequence ENSEMBL: ENSMUSP00000140191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111210] [ENSMUST00000186442] [ENSMUST00000188804] [ENSMUST00000190071] [ENSMUST00000190651]
AlphaFold D0QMC3
Predicted Effect unknown
Transcript: ENSMUST00000111210
AA Change: A59S
SMART Domains Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: A59S

DomainStartEndE-ValueType
PYRIN 5 83 3.71e-20 SMART
internal_repeat_1 152 166 2.38e-7 PROSPERO
low complexity region 170 200 N/A INTRINSIC
internal_repeat_1 208 222 2.38e-7 PROSPERO
low complexity region 225 249 N/A INTRINSIC
low complexity region 276 292 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
Pfam:HIN 311 479 3.4e-76 PFAM
low complexity region 497 507 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186442
AA Change: A59S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: A59S

DomainStartEndE-ValueType
PYRIN 5 83 1.8e-24 SMART
internal_repeat_1 152 166 4.72e-7 PROSPERO
low complexity region 170 200 N/A INTRINSIC
internal_repeat_1 208 222 4.72e-7 PROSPERO
low complexity region 225 237 N/A INTRINSIC
low complexity region 239 250 N/A INTRINSIC
Pfam:HIN 258 427 2.9e-83 PFAM
low complexity region 444 454 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187636
Predicted Effect unknown
Transcript: ENSMUST00000188804
AA Change: A59S
SMART Domains Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: A59S

DomainStartEndE-ValueType
PYRIN 5 83 3.71e-20 SMART
internal_repeat_1 152 166 2.38e-7 PROSPERO
low complexity region 170 200 N/A INTRINSIC
internal_repeat_1 208 222 2.38e-7 PROSPERO
low complexity region 225 249 N/A INTRINSIC
low complexity region 276 292 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
Pfam:HIN 311 480 4.3e-86 PFAM
low complexity region 497 507 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189501
Predicted Effect probably benign
Transcript: ENSMUST00000190071
SMART Domains Protein: ENSMUSP00000141055
Gene: ENSMUSG00000090272

DomainStartEndE-ValueType
internal_repeat_1 21 35 3.67e-8 PROSPERO
low complexity region 39 69 N/A INTRINSIC
internal_repeat_1 77 91 3.67e-8 PROSPERO
low complexity region 94 106 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190651
AA Change: A59S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140191
Gene: ENSMUSG00000090272
AA Change: A59S

DomainStartEndE-ValueType
PYRIN 5 83 1.8e-24 SMART
low complexity region 170 182 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191500
Meta Mutation Damage Score 0.7001 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik A T 11: 70,507,417 (GRCm39) Y154F probably benign Het
Abca5 A T 11: 110,200,176 (GRCm39) probably benign Het
Agtpbp1 T A 13: 59,622,364 (GRCm39) D11V probably damaging Het
Aldh1a2 G A 9: 71,188,982 (GRCm39) A299T possibly damaging Het
Apc T A 18: 34,449,158 (GRCm39) V1984D probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Atp13a2 G A 4: 140,732,449 (GRCm39) V905M probably damaging Het
Atp1a1 C T 3: 101,489,420 (GRCm39) G731R probably damaging Het
Atrn T C 2: 130,836,113 (GRCm39) V1131A possibly damaging Het
Bcl2l13 T A 6: 120,863,982 (GRCm39) V312E possibly damaging Het
Chic2 A G 5: 75,187,817 (GRCm39) V81A possibly damaging Het
Drg1 A T 11: 3,209,353 (GRCm39) I122N possibly damaging Het
Efcab3 A G 11: 104,611,490 (GRCm39) D444G probably benign Het
Flt4 A G 11: 49,524,990 (GRCm39) N612S possibly damaging Het
Hadhb T C 5: 30,369,094 (GRCm39) probably benign Het
Heg1 G T 16: 33,559,041 (GRCm39) R856S probably benign Het
Ice2 A C 9: 69,315,573 (GRCm39) N143T probably benign Het
Igkv8-21 G A 6: 70,292,427 (GRCm39) Q4* probably null Het
Lrfn2 T C 17: 49,403,448 (GRCm39) S524P probably damaging Het
Mpp7 T C 18: 7,513,002 (GRCm39) E33G possibly damaging Het
Msantd5l A G 11: 51,145,251 (GRCm39) F112S probably damaging Het
Nedd4 T A 9: 72,617,801 (GRCm39) D187E probably damaging Het
Nfx1 A G 4: 40,991,868 (GRCm39) I519V probably benign Het
Or10p22 G A 10: 128,826,660 (GRCm39) R293Q probably damaging Het
Or6c204 T C 10: 129,022,433 (GRCm39) I286V possibly damaging Het
Padi1 T C 4: 140,556,748 (GRCm39) N153S probably damaging Het
Parp10 A G 15: 76,125,146 (GRCm39) probably benign Het
Setbp1 A T 18: 78,900,514 (GRCm39) M1051K probably damaging Het
Slc2a7 T A 4: 150,244,573 (GRCm39) M347K probably damaging Het
Slc45a2 C A 15: 11,012,693 (GRCm39) T232K probably benign Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Spata13 T C 14: 60,987,538 (GRCm39) Y899H possibly damaging Het
Sult1c2 T A 17: 54,281,026 (GRCm39) I26F probably damaging Het
Sybu A G 15: 44,541,040 (GRCm39) C341R probably damaging Het
Syk T A 13: 52,796,018 (GRCm39) S538T possibly damaging Het
Syne2 A G 12: 76,013,325 (GRCm39) T2840A probably benign Het
Thsd4 A G 9: 59,883,615 (GRCm39) C924R probably damaging Het
Tle1 A G 4: 72,076,504 (GRCm39) S175P probably benign Het
Tmbim4 C T 10: 120,053,537 (GRCm39) T112M probably benign Het
Tmprss11a A G 5: 86,567,859 (GRCm39) probably null Het
Tnc C A 4: 63,893,466 (GRCm39) D1698Y probably damaging Het
Ypel1 A G 16: 16,927,539 (GRCm39) Y18H probably benign Het
Other mutations in Mndal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Mndal APN 1 173,685,022 (GRCm39) missense possibly damaging 0.68
IGL02309:Mndal APN 1 173,702,021 (GRCm39) missense probably damaging 0.98
IGL02559:Mndal APN 1 173,700,486 (GRCm39) missense probably benign 0.06
IGL02637:Mndal APN 1 173,685,003 (GRCm39) missense possibly damaging 0.63
LCD18:Mndal UTSW 1 173,707,784 (GRCm39) unclassified probably benign
R0076:Mndal UTSW 1 173,702,013 (GRCm39) nonsense probably null
R0123:Mndal UTSW 1 173,685,079 (GRCm39) splice site probably benign
R0134:Mndal UTSW 1 173,685,079 (GRCm39) splice site probably benign
R0225:Mndal UTSW 1 173,685,079 (GRCm39) splice site probably benign
R0976:Mndal UTSW 1 173,690,411 (GRCm39) missense possibly damaging 0.70
R1081:Mndal UTSW 1 173,687,788 (GRCm39) missense probably benign 0.01
R1497:Mndal UTSW 1 173,700,441 (GRCm39) missense probably benign 0.04
R1522:Mndal UTSW 1 173,699,032 (GRCm39) missense possibly damaging 0.68
R1630:Mndal UTSW 1 173,701,958 (GRCm39) missense possibly damaging 0.52
R1874:Mndal UTSW 1 173,687,933 (GRCm39) unclassified probably benign
R4183:Mndal UTSW 1 173,703,337 (GRCm39) missense possibly damaging 0.95
R4544:Mndal UTSW 1 173,703,230 (GRCm39) nonsense probably null
R4545:Mndal UTSW 1 173,703,230 (GRCm39) nonsense probably null
R4907:Mndal UTSW 1 173,690,256 (GRCm39) missense probably damaging 0.99
R5853:Mndal UTSW 1 173,690,070 (GRCm39) missense probably damaging 0.98
R6208:Mndal UTSW 1 173,684,988 (GRCm39) missense possibly damaging 0.84
R6395:Mndal UTSW 1 173,698,999 (GRCm39) missense possibly damaging 0.73
R6923:Mndal UTSW 1 173,712,264 (GRCm39) splice site probably null
R6933:Mndal UTSW 1 173,703,249 (GRCm39) missense probably damaging 1.00
R7030:Mndal UTSW 1 173,703,160 (GRCm39) missense probably damaging 1.00
R7327:Mndal UTSW 1 173,703,185 (GRCm39) missense unknown
R7648:Mndal UTSW 1 173,684,961 (GRCm39) missense probably benign 0.01
R8130:Mndal UTSW 1 173,699,111 (GRCm39) nonsense probably null
R8514:Mndal UTSW 1 173,687,758 (GRCm39) missense possibly damaging 0.84
R8697:Mndal UTSW 1 173,700,558 (GRCm39) nonsense probably null
R9134:Mndal UTSW 1 173,699,096 (GRCm39) missense unknown
R9257:Mndal UTSW 1 173,690,274 (GRCm39) missense probably damaging 1.00
R9458:Mndal UTSW 1 173,687,749 (GRCm39) missense probably damaging 1.00
Z1177:Mndal UTSW 1 173,701,970 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGGGGCATATCAGCTGTGATC -3'
(R):5'- TCACTCACATGAGAATATCCTGTCTTG -3'

Sequencing Primer
(F):5'- TCACACAGGGAGTTAGCAAGTTTG -3'
(R):5'- CTATAATTTGAGAGACGATGGCTG -3'
Posted On 2016-06-06