Incidental Mutation 'R3981:Maml2'
ID 351174
Institutional Source Beutler Lab
Gene Symbol Maml2
Ensembl Gene ENSMUSG00000031925
Gene Name mastermind like transcriptional coactivator 2
Synonyms
MMRRC Submission 040943-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3981 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 13298306-13620684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13532364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 526 (V526A)
Ref Sequence ENSEMBL: ENSMUSP00000124083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034401] [ENSMUST00000159294]
AlphaFold F6U238
Predicted Effect probably benign
Transcript: ENSMUST00000034401
SMART Domains Protein: ENSMUSP00000034401
Gene: ENSMUSG00000031925

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
low complexity region 144 163 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000159294
AA Change: V526A

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: V526A

DomainStartEndE-ValueType
low complexity region 227 245 N/A INTRINSIC
low complexity region 313 331 N/A INTRINSIC
SCOP:d1lsha3 385 459 5e-3 SMART
low complexity region 523 547 N/A INTRINSIC
low complexity region 571 589 N/A INTRINSIC
low complexity region 616 627 N/A INTRINSIC
low complexity region 734 753 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175351
Meta Mutation Damage Score 0.0662 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,482,407 (GRCm39) C4313G probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bhlhe22 G T 3: 18,109,058 (GRCm39) R36L probably damaging Het
Cacnb2 A G 2: 14,609,314 (GRCm39) E18G probably benign Het
Cct2 G A 10: 116,890,040 (GRCm39) P10L probably damaging Het
Cep295 G T 9: 15,228,363 (GRCm39) probably benign Het
Cep89 A G 7: 35,137,808 (GRCm39) R731G probably damaging Het
Chrnb3 C T 8: 27,884,034 (GRCm39) T257M probably damaging Het
Clca3a1 T A 3: 144,461,070 (GRCm39) T194S probably benign Het
Clca4b T C 3: 144,631,797 (GRCm39) K236R probably benign Het
Col18a1 C A 10: 76,924,721 (GRCm39) D23Y probably damaging Het
Cry1 A T 10: 84,982,456 (GRCm39) Y297N probably damaging Het
Defb38 A G 8: 19,076,483 (GRCm39) probably null Het
Dlgap1 A G 17: 70,823,780 (GRCm39) K255R probably damaging Het
Erich6 T C 3: 58,544,125 (GRCm39) E154G probably benign Het
Esf1 G A 2: 140,000,476 (GRCm39) P437S probably benign Het
Fkbp7 A C 2: 76,493,601 (GRCm39) N197K probably damaging Het
Fsip2 T A 2: 82,789,006 (GRCm39) D342E probably benign Het
Gbx1 T C 5: 24,731,213 (GRCm39) D201G probably benign Het
Gm15056 T A 8: 21,390,957 (GRCm39) K25N possibly damaging Het
Grb7 T G 11: 98,345,391 (GRCm39) probably benign Het
H2-M3 C T 17: 37,582,021 (GRCm39) A159V probably damaging Het
Hcar1 T C 5: 124,016,683 (GRCm39) N336S probably benign Het
Ift122 T C 6: 115,890,882 (GRCm39) V807A probably benign Het
Map3k20 C T 2: 72,268,571 (GRCm39) T526I probably damaging Het
Mfap2 A G 4: 140,741,554 (GRCm39) Q71R possibly damaging Het
Mmd2 T C 5: 142,550,554 (GRCm39) Y228C probably damaging Het
Mme T A 3: 63,235,485 (GRCm39) Y178N probably damaging Het
Mras T C 9: 99,293,469 (GRCm39) D57G probably damaging Het
Muc5ac T C 7: 141,367,512 (GRCm39) C2274R possibly damaging Het
Or8j3c T A 2: 86,253,186 (GRCm39) Y278F probably damaging Het
Palmd T C 3: 116,717,472 (GRCm39) T342A probably benign Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rdh19 A G 10: 127,686,017 (GRCm39) N43S probably benign Het
Ros1 G A 10: 51,996,974 (GRCm39) H1233Y possibly damaging Het
Samd8 A G 14: 21,830,248 (GRCm39) R225G probably null Het
Slc7a11 C A 3: 50,382,223 (GRCm39) V175L probably benign Het
Spata31d1c A G 13: 65,182,925 (GRCm39) T156A possibly damaging Het
Spata31g1 C T 4: 42,971,534 (GRCm39) T289I probably damaging Het
Spmip9 T C 6: 70,890,283 (GRCm39) N170D possibly damaging Het
Stxbp5 T C 10: 9,665,060 (GRCm39) probably benign Het
Tec T A 5: 72,980,942 (GRCm39) probably benign Het
Vps16 T C 2: 130,284,514 (GRCm39) W728R possibly damaging Het
Xirp1 T C 9: 119,846,810 (GRCm39) E691G probably damaging Het
Zfp605 T C 5: 110,275,604 (GRCm39) S241P probably damaging Het
Zfp839 G A 12: 110,832,765 (GRCm39) G561D probably damaging Het
Other mutations in Maml2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Maml2 APN 9 13,532,900 (GRCm39) unclassified probably benign
IGL00424:Maml2 APN 9 13,532,208 (GRCm39) missense probably damaging 0.99
IGL02711:Maml2 APN 9 13,531,359 (GRCm39) missense probably benign 0.14
IGL03079:Maml2 APN 9 13,532,912 (GRCm39) unclassified probably benign
IGL03217:Maml2 APN 9 13,531,295 (GRCm39) missense probably damaging 1.00
FR4304:Maml2 UTSW 9 13,532,755 (GRCm39) small deletion probably benign
FR4449:Maml2 UTSW 9 13,532,752 (GRCm39) small deletion probably benign
PIT4810001:Maml2 UTSW 9 13,531,320 (GRCm39) missense
R0102:Maml2 UTSW 9 13,617,228 (GRCm39) synonymous silent
R0318:Maml2 UTSW 9 13,531,890 (GRCm39) missense probably damaging 0.99
R0380:Maml2 UTSW 9 13,532,396 (GRCm39) nonsense probably null
R1433:Maml2 UTSW 9 13,617,797 (GRCm39) missense probably damaging 1.00
R1449:Maml2 UTSW 9 13,531,980 (GRCm39) missense possibly damaging 0.85
R1789:Maml2 UTSW 9 13,608,641 (GRCm39) missense probably damaging 1.00
R2173:Maml2 UTSW 9 13,532,912 (GRCm39) unclassified probably benign
R2363:Maml2 UTSW 9 13,532,541 (GRCm39) missense probably damaging 1.00
R2426:Maml2 UTSW 9 13,617,794 (GRCm39) missense probably damaging 1.00
R2880:Maml2 UTSW 9 13,531,893 (GRCm39) splice site probably null
R4094:Maml2 UTSW 9 13,531,449 (GRCm39) missense probably benign 0.22
R4117:Maml2 UTSW 9 13,617,230 (GRCm39) missense probably damaging 1.00
R4282:Maml2 UTSW 9 13,531,406 (GRCm39) missense possibly damaging 0.93
R4618:Maml2 UTSW 9 13,531,371 (GRCm39) missense probably damaging 1.00
R4921:Maml2 UTSW 9 13,532,471 (GRCm39) missense probably damaging 1.00
R4957:Maml2 UTSW 9 13,531,572 (GRCm39) missense probably damaging 1.00
R5195:Maml2 UTSW 9 13,532,410 (GRCm39) missense probably damaging 0.98
R5428:Maml2 UTSW 9 13,617,191 (GRCm39) missense probably benign 0.30
R5448:Maml2 UTSW 9 13,617,763 (GRCm39) missense probably damaging 0.98
R5450:Maml2 UTSW 9 13,617,763 (GRCm39) missense probably damaging 0.98
R5455:Maml2 UTSW 9 13,617,039 (GRCm39) nonsense probably null
R5620:Maml2 UTSW 9 13,608,616 (GRCm39) missense probably damaging 1.00
R5973:Maml2 UTSW 9 13,532,915 (GRCm39) unclassified probably benign
R6009:Maml2 UTSW 9 13,532,294 (GRCm39) missense probably benign 0.02
R6054:Maml2 UTSW 9 13,532,695 (GRCm39) small deletion probably benign
R6257:Maml2 UTSW 9 13,531,722 (GRCm39) missense probably damaging 1.00
R6727:Maml2 UTSW 9 13,532,847 (GRCm39) unclassified probably benign
R6824:Maml2 UTSW 9 13,608,513 (GRCm39) missense possibly damaging 0.67
R6854:Maml2 UTSW 9 13,617,131 (GRCm39) missense possibly damaging 0.59
R6998:Maml2 UTSW 9 13,532,481 (GRCm39) unclassified probably benign
R7047:Maml2 UTSW 9 13,532,177 (GRCm39) unclassified probably benign
R7233:Maml2 UTSW 9 13,532,067 (GRCm39) missense
R7326:Maml2 UTSW 9 13,532,903 (GRCm39) missense
R7612:Maml2 UTSW 9 13,617,781 (GRCm39) missense probably benign 0.04
R7652:Maml2 UTSW 9 13,532,945 (GRCm39) missense
R7699:Maml2 UTSW 9 13,532,385 (GRCm39) missense
R7700:Maml2 UTSW 9 13,532,385 (GRCm39) missense
R7803:Maml2 UTSW 9 13,532,572 (GRCm39) small insertion probably benign
R7803:Maml2 UTSW 9 13,532,571 (GRCm39) small insertion probably benign
R7803:Maml2 UTSW 9 13,532,550 (GRCm39) small insertion probably benign
R8425:Maml2 UTSW 9 13,531,413 (GRCm39) missense
R8810:Maml2 UTSW 9 13,532,918 (GRCm39) missense
R9277:Maml2 UTSW 9 13,531,872 (GRCm39) missense
R9359:Maml2 UTSW 9 13,532,969 (GRCm39) nonsense probably null
R9403:Maml2 UTSW 9 13,532,969 (GRCm39) nonsense probably null
RF015:Maml2 UTSW 9 13,532,752 (GRCm39) small deletion probably benign
RF044:Maml2 UTSW 9 13,532,752 (GRCm39) small deletion probably benign
X0063:Maml2 UTSW 9 13,531,637 (GRCm39) missense probably benign 0.09
Z1177:Maml2 UTSW 9 13,617,886 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGATAGCTGCAAACCGCCAG -3'
(R):5'- TGCAAGAGAGAAGGTTTGCTC -3'

Sequencing Primer
(F):5'- AGTCCTCTGCTGGGCCATC -3'
(R):5'- TTTGCTCTGGGAAGGCAAAAG -3'
Posted On 2015-10-08