Incidental Mutation 'IGL01363:Mndal'
ID75838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mndal
Ensembl Gene ENSMUSG00000090272
Gene Namemyeloid nuclear differentiation antigen like
SynonymsGm2785
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL01363
Quality Score
Status
Chromosome1
Chromosomal Location173849126-173942491 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 173857456 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 516 (T516S)
Ref Sequence ENSEMBL: ENSMUSP00000140610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111210] [ENSMUST00000186442] [ENSMUST00000188804]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111210
AA Change: T516S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: T516S

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 benign
Transcript: ENSMUST00000186442
AA Change: T463S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: T463S

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 possibly damaging
Transcript: ENSMUST00000188804
AA Change: T516S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: T516S

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: ENSMUST00000189474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220623
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,610,690 F23S probably damaging Het
A730017C20Rik G A 18: 59,072,308 G98D probably damaging Het
Abcg3 A G 5: 104,948,362 V528A possibly damaging Het
Adgrv1 A G 13: 81,557,065 V1542A probably damaging Het
Alkbh3 A G 2: 94,003,051 probably null Het
Ang4 G T 14: 51,764,179 T104K probably benign Het
Arhgef3 T A 14: 27,401,919 C532* probably null Het
Bnip3 G A 7: 138,898,048 T70I probably benign Het
Cast T C 13: 74,704,192 E644G possibly damaging Het
Cenpc1 A T 5: 86,046,531 C125* probably null Het
Crb2 C A 2: 37,793,833 R1116S probably benign Het
Cyp2c67 T G 19: 39,639,967 I178L probably damaging Het
Cyp2c68 T A 19: 39,703,427 M351L probably benign Het
Dusp1 G A 17: 26,506,290 P365L probably damaging Het
Gatb T C 3: 85,652,345 L492P probably damaging Het
Gm13103 A T 4: 143,853,276 Y477F probably benign Het
Igkv8-19 T C 6: 70,341,099 S48G probably damaging Het
Isyna1 G A 8: 70,594,722 V32I probably damaging Het
Itgb6 T A 2: 60,611,382 N695Y possibly damaging Het
Klra8 T C 6: 130,115,598 T247A probably benign Het
Mak G A 13: 41,053,377 probably benign Het
Mphosph9 G T 5: 124,262,021 T939K probably damaging Het
Nfrkb A G 9: 31,414,371 T1037A possibly damaging Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr25 A G 9: 38,329,703 T39A probably benign Het
Pard3b A G 1: 62,637,640 Y1011C probably damaging Het
Parm1 G A 5: 91,613,018 V250M probably damaging Het
Pgap2 T G 7: 102,226,282 M1R probably null Het
Phlpp2 T C 8: 109,937,097 F923L probably benign Het
Polr1a T A 6: 71,948,486 M739K probably benign Het
Pramel1 A G 4: 143,397,385 Y210C probably benign Het
Raver2 A G 4: 101,120,583 probably benign Het
Rb1cc1 C T 1: 6,250,109 L1251F probably benign Het
Ros1 T A 10: 52,166,142 Y238F probably damaging Het
Shroom3 T C 5: 92,940,993 L534P probably benign Het
Tjp1 A T 7: 65,302,965 F1540L possibly damaging Het
Tmem200b C A 4: 131,922,393 P208Q probably benign Het
Tmem236 T C 2: 14,174,630 L14P probably damaging Het
Tubgcp6 A T 15: 89,107,525 I623N probably damaging Het
Vmn1r119 C T 7: 21,012,131 V109I probably benign Het
Vmn2r98 A G 17: 19,065,758 N173D probably benign Het
Other mutations in Mndal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02309:Mndal APN 1 173874455 missense probably damaging 0.98
IGL02559:Mndal APN 1 173872920 missense probably benign 0.06
IGL02637:Mndal APN 1 173857437 missense possibly damaging 0.63
LCD18:Mndal UTSW 1 173880218 unclassified probably benign
R0076:Mndal UTSW 1 173874447 nonsense probably null
R0123:Mndal UTSW 1 173857513 splice site probably benign
R0134:Mndal UTSW 1 173857513 splice site probably benign
R0225:Mndal UTSW 1 173857513 splice site probably benign
R0976:Mndal UTSW 1 173862845 missense possibly damaging 0.70
R1081:Mndal UTSW 1 173860222 missense probably benign 0.01
R1497:Mndal UTSW 1 173872875 missense probably benign 0.04
R1522:Mndal UTSW 1 173871466 missense possibly damaging 0.68
R1630:Mndal UTSW 1 173874392 missense possibly damaging 0.52
R1874:Mndal UTSW 1 173860367 unclassified probably benign
R4183:Mndal UTSW 1 173875771 missense possibly damaging 0.95
R4544:Mndal UTSW 1 173875664 nonsense probably null
R4545:Mndal UTSW 1 173875664 nonsense probably null
R4907:Mndal UTSW 1 173862690 missense probably damaging 0.99
R5066:Mndal UTSW 1 173875663 missense probably damaging 1.00
R5853:Mndal UTSW 1 173862504 missense probably damaging 0.98
R6208:Mndal UTSW 1 173857422 missense possibly damaging 0.84
R6395:Mndal UTSW 1 173871433 missense possibly damaging 0.73
R6923:Mndal UTSW 1 173884698 splice site probably null
R6933:Mndal UTSW 1 173875683 missense probably damaging 1.00
R7030:Mndal UTSW 1 173875594 missense probably damaging 1.00
R7327:Mndal UTSW 1 173875619 missense unknown
R7648:Mndal UTSW 1 173857395 missense probably benign 0.01
R8130:Mndal UTSW 1 173871545 nonsense probably null
R8514:Mndal UTSW 1 173860192 missense possibly damaging 0.84
Z1177:Mndal UTSW 1 173874404 missense unknown
Posted On2013-10-07