Incidental Mutation 'IGL00417:Maml2'
ID 332368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maml2
Ensembl Gene ENSMUSG00000031925
Gene Name mastermind like transcriptional coactivator 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00417
Quality Score
Status
Chromosome 9
Chromosomal Location 13298306-13620684 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 13532900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034401 (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 unknown
Transcript: ENSMUST00000159294
AA Change: I705F
SMART Domains Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: I705F

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,022,982 (GRCm39) I39M probably benign Het
Acoxl G A 2: 127,820,724 (GRCm39) C92Y probably damaging Het
Actl6b G T 5: 137,552,899 (GRCm39) R76L probably damaging Het
Afg2a A G 3: 37,505,951 (GRCm39) I677V possibly damaging Het
Ank T C 15: 27,544,437 (GRCm39) M66T possibly damaging Het
C6 C T 15: 4,789,449 (GRCm39) A298V possibly damaging Het
Clip4 A T 17: 72,156,937 (GRCm39) N591Y probably damaging Het
Cntnap5b T C 1: 99,978,479 (GRCm39) I165T probably damaging Het
Dennd1b G A 1: 138,990,678 (GRCm39) R214H probably damaging Het
Eri2 G A 7: 119,386,964 (GRCm39) T185I probably benign Het
Fbxo33 A G 12: 59,249,456 (GRCm39) V476A probably damaging Het
Fer1l4 G A 2: 155,861,840 (GRCm39) R1826* probably null Het
Fyb1 A T 15: 6,610,258 (GRCm39) K277I probably damaging Het
Gli3 C A 13: 15,818,884 (GRCm39) H229N probably damaging Het
Hmcn1 T C 1: 150,553,029 (GRCm39) I2554V probably benign Het
Map4k4 T C 1: 40,053,692 (GRCm39) F930L possibly damaging Het
Mmadhc T C 2: 50,179,043 (GRCm39) D125G probably benign Het
Nipbl A G 15: 8,396,157 (GRCm39) S139P probably damaging Het
Obscn A G 11: 58,897,614 (GRCm39) L6647P unknown Het
Ppara C A 15: 85,685,268 (GRCm39) H406N probably benign Het
Psg27 T A 7: 18,295,842 (GRCm39) H201L probably benign Het
Qser1 A T 2: 104,617,248 (GRCm39) I1188N probably damaging Het
Rc3h1 T C 1: 160,783,551 (GRCm39) probably null Het
Septin2 C T 1: 93,426,864 (GRCm39) H158Y probably damaging Het
Snx9 C A 17: 5,942,172 (GRCm39) Q100K probably benign Het
Thnsl2 G A 6: 71,108,884 (GRCm39) T309I probably damaging Het
Thsd7b A G 1: 129,523,571 (GRCm39) R125G probably damaging Het
Tmem62 T G 2: 120,837,445 (GRCm39) probably null Het
Tnpo3 A T 6: 29,578,460 (GRCm39) probably null Het
Trpc6 A T 9: 8,680,439 (GRCm39) D889V probably damaging Het
Tubgcp6 C A 15: 88,988,211 (GRCm39) V913L probably benign Het
Uox A T 3: 146,333,565 (GRCm39) M255L probably benign Het
Other mutations in Maml2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3981:Maml2 UTSW 9 13,532,364 (GRCm39) missense possibly damaging 0.80
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
Posted On 2015-08-05