Incidental Mutation 'R6178:Mau2'
ID 514477
Institutional Source Beutler Lab
Gene Symbol Mau2
Ensembl Gene ENSMUSG00000031858
Gene Name MAU2 sister chromatid cohesion factor
Synonyms A930019L04Rik, 9130404D08Rik
MMRRC Submission 044320-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6178 (G1)
Quality Score 65.0073
Status Validated
Chromosome 8
Chromosomal Location 70468773-70495384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70495187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 50 (I50T)
Ref Sequence ENSEMBL: ENSMUSP00000148532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011450] [ENSMUST00000050561] [ENSMUST00000168013] [ENSMUST00000212308] [ENSMUST00000212451] [ENSMUST00000212845]
AlphaFold Q9D2X5
Predicted Effect probably benign
Transcript: ENSMUST00000011450
SMART Domains Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
low complexity region 88 97 N/A INTRINSIC
SWAP 185 239 8e-20 SMART
SWAP 260 314 4.09e-17 SMART
low complexity region 344 365 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
G_patch 558 605 3.25e-17 SMART
low complexity region 628 643 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000050561
AA Change: I50T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858
AA Change: I50T

DomainStartEndE-ValueType
Pfam:Cohesin_load 29 575 5e-131 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168013
AA Change: I50T

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: I50T

DomainStartEndE-ValueType
Pfam:Cohesin_load 29 576 8.7e-130 PFAM
Pfam:TPR_8 71 105 3.3e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212055
Predicted Effect possibly damaging
Transcript: ENSMUST00000212308
AA Change: I50T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212451
AA Change: I50T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000212845
AA Change: I50T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213035
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (54/55)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,678,468 (GRCm39) I61V probably benign Het
Afg3l2 G A 18: 67,542,598 (GRCm39) T616I possibly damaging Het
Aktip T C 8: 91,852,671 (GRCm39) N195S probably damaging Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Atg7 T A 6: 114,701,856 (GRCm39) I621N probably damaging Het
Becn1 T A 11: 101,182,336 (GRCm39) I283F probably damaging Het
Btnl12 T C 16: 37,676,422 (GRCm39) Y115C probably damaging Het
C4b T C 17: 34,952,380 (GRCm39) T1220A probably benign Het
Celsr1 C A 15: 85,785,222 (GRCm39) R3004M probably benign Het
Clspn A T 4: 126,471,529 (GRCm39) probably null Het
Csmd3 T C 15: 48,536,854 (GRCm39) Y116C probably damaging Het
Dcp1a T G 14: 30,245,261 (GRCm39) *603G probably null Het
Dmrtc1b C T X: 101,757,169 (GRCm39) P205S possibly damaging Het
Fev G T 1: 74,923,698 (GRCm39) probably benign Het
Fry T A 5: 150,377,987 (GRCm39) V393E probably damaging Het
Gm30646 A G 7: 30,132,081 (GRCm39) probably null Het
Gm3676 C T 14: 41,363,452 (GRCm39) E175K probably benign Het
Gm4847 T C 1: 166,469,905 (GRCm39) Y56C probably damaging Het
Gm5422 T C 10: 31,125,688 (GRCm39) noncoding transcript Het
Gstm6 A G 3: 107,848,397 (GRCm39) V174A probably benign Het
Isoc1 G T 18: 58,804,664 (GRCm39) V191F possibly damaging Het
Kalrn T A 16: 33,874,009 (GRCm39) D132V possibly damaging Het
Kcp T C 6: 29,482,887 (GRCm39) D1394G possibly damaging Het
Marchf10 T G 11: 105,280,440 (GRCm39) D615A probably damaging Het
Mgp A G 6: 136,849,722 (GRCm39) C79R probably damaging Het
Mpdz T A 4: 81,226,602 (GRCm39) K1344N probably damaging Het
Mrgpre T A 7: 143,334,708 (GRCm39) Y265F possibly damaging Het
Mro G A 18: 74,006,295 (GRCm39) V80M possibly damaging Het
Mrpl44 G T 1: 79,755,895 (GRCm39) C167F possibly damaging Het
Muc5b A G 7: 141,410,079 (GRCm39) M1218V probably null Het
Naa16 T C 14: 79,620,780 (GRCm39) I100V possibly damaging Het
Nup205 A T 6: 35,220,778 (GRCm39) Y1860F possibly damaging Het
Or10aa3 A T 1: 173,878,533 (GRCm39) Y198F probably benign Het
Or14c40 A G 7: 86,313,819 (GRCm39) I316M probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4c103 T C 2: 88,513,977 (GRCm39) Y33C probably damaging Het
Plcb3 A G 19: 6,932,071 (GRCm39) probably null Het
Pnpla3 G A 15: 84,065,132 (GRCm39) A309T probably benign Het
Ranbp10 A G 8: 106,498,296 (GRCm39) S624P possibly damaging Het
Ripor2 T C 13: 24,894,113 (GRCm39) S714P possibly damaging Het
Robo4 C T 9: 37,316,926 (GRCm39) Q414* probably null Het
Shc2 A G 10: 79,465,954 (GRCm39) I161T probably damaging Het
Slc35b2 C T 17: 45,877,302 (GRCm39) T143I probably benign Het
Slc39a13 T C 2: 90,898,880 (GRCm39) D77G probably damaging Het
Snx6 A C 12: 54,807,249 (GRCm39) D243E probably damaging Het
Taar8b A G 10: 23,967,711 (GRCm39) V161A probably benign Het
Tbr1 T A 2: 61,635,159 (GRCm39) D36E possibly damaging Het
Tdpoz2 T C 3: 93,559,618 (GRCm39) N118S probably benign Het
Tgfb1i1 T C 7: 127,852,517 (GRCm39) F478L probably damaging Het
Tmprss11f T C 5: 86,704,837 (GRCm39) D27G probably benign Het
Trim30d T G 7: 104,137,202 (GRCm39) M1L probably damaging Het
Trpm7 A G 2: 126,679,301 (GRCm39) V420A probably damaging Het
Ubap2 G T 4: 41,206,981 (GRCm39) P199H probably benign Het
Ubash3b T C 9: 40,926,212 (GRCm39) T512A probably damaging Het
Zfp65 G A 13: 67,858,437 (GRCm39) P76S probably benign Het
Zic5 A T 14: 122,696,748 (GRCm39) H622Q unknown Het
Zpld1 A T 16: 55,053,993 (GRCm39) N266K probably damaging Het
Zswim1 A G 2: 164,667,972 (GRCm39) probably null Het
Other mutations in Mau2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Mau2 APN 8 70,481,895 (GRCm39) splice site probably benign
IGL02353:Mau2 APN 8 70,472,288 (GRCm39) missense probably damaging 0.99
IGL02360:Mau2 APN 8 70,472,288 (GRCm39) missense probably damaging 0.99
IGL02990:Mau2 APN 8 70,474,905 (GRCm39) splice site probably benign
PIT4382001:Mau2 UTSW 8 70,483,302 (GRCm39) missense possibly damaging 0.95
R0378:Mau2 UTSW 8 70,483,305 (GRCm39) missense probably damaging 0.99
R0556:Mau2 UTSW 8 70,495,082 (GRCm39) missense probably damaging 1.00
R0558:Mau2 UTSW 8 70,495,082 (GRCm39) missense probably damaging 1.00
R0731:Mau2 UTSW 8 70,476,262 (GRCm39) critical splice donor site probably null
R0987:Mau2 UTSW 8 70,480,348 (GRCm39) missense probably damaging 0.99
R1866:Mau2 UTSW 8 70,484,142 (GRCm39) missense probably damaging 1.00
R2857:Mau2 UTSW 8 70,472,474 (GRCm39) missense probably benign 0.08
R4852:Mau2 UTSW 8 70,485,827 (GRCm39) critical splice donor site probably null
R4893:Mau2 UTSW 8 70,483,290 (GRCm39) critical splice donor site probably null
R4970:Mau2 UTSW 8 70,480,353 (GRCm39) missense possibly damaging 0.94
R5004:Mau2 UTSW 8 70,478,537 (GRCm39) missense probably damaging 1.00
R5012:Mau2 UTSW 8 70,484,107 (GRCm39) splice site probably null
R5248:Mau2 UTSW 8 70,481,373 (GRCm39) missense probably benign 0.11
R6150:Mau2 UTSW 8 70,472,487 (GRCm39) missense probably benign 0.23
R6343:Mau2 UTSW 8 70,484,173 (GRCm39) missense probably damaging 0.99
R6649:Mau2 UTSW 8 70,484,166 (GRCm39) missense possibly damaging 0.71
R6838:Mau2 UTSW 8 70,491,947 (GRCm39) splice site probably null
R6959:Mau2 UTSW 8 70,485,878 (GRCm39) missense probably damaging 1.00
R7365:Mau2 UTSW 8 70,481,884 (GRCm39) missense possibly damaging 0.93
R7747:Mau2 UTSW 8 70,479,373 (GRCm39) missense possibly damaging 0.46
R8039:Mau2 UTSW 8 70,472,440 (GRCm39) missense probably damaging 0.96
R8222:Mau2 UTSW 8 70,485,827 (GRCm39) critical splice donor site probably null
R8350:Mau2 UTSW 8 70,495,242 (GRCm39) missense probably damaging 1.00
R8782:Mau2 UTSW 8 70,485,845 (GRCm39) missense possibly damaging 0.74
R9145:Mau2 UTSW 8 70,480,165 (GRCm39) missense probably damaging 1.00
R9514:Mau2 UTSW 8 70,480,153 (GRCm39) missense probably damaging 1.00
R9515:Mau2 UTSW 8 70,480,153 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGAAGAGGGACAACTTTCC -3'
(R):5'- AGACCCAGAAGTCCTTGCGTAG -3'

Sequencing Primer
(F):5'- GGGACAACTTTCCCGGTTC -3'
(R):5'- TCTCGCGAGAATTGCGG -3'
Posted On 2018-05-04