Incidental Mutation 'R1789:Maml2'
ID 201629
Institutional Source Beutler Lab
Gene Symbol Maml2
Ensembl Gene ENSMUSG00000031925
Gene Name mastermind like transcriptional coactivator 2
Synonyms
MMRRC Submission 039820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1789 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 13298306-13620684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 13608641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 30 (L30V)
Ref Sequence ENSEMBL: ENSMUSP00000136866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034401] [ENSMUST00000159294] [ENSMUST00000177755]
AlphaFold F6U238
Predicted Effect probably damaging
Transcript: ENSMUST00000034401
AA Change: L30V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034401
Gene: ENSMUSG00000031925
AA Change: L30V

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
low complexity region 144 163 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159294
AA Change: L786V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: L786V

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: ENSMUST00000161245
Predicted Effect probably damaging
Transcript: ENSMUST00000177755
AA Change: L30V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136866
Gene: ENSMUSG00000031925
AA Change: L30V

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
low complexity region 144 163 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,184,701 (GRCm39) P986L probably damaging Het
Acad10 A T 5: 121,769,456 (GRCm39) Y667N possibly damaging Het
Ahi1 G A 10: 20,839,014 (GRCm39) G121D probably benign Het
Ampd1 T A 3: 103,006,442 (GRCm39) I690N possibly damaging Het
Amy1 C A 3: 113,351,814 (GRCm39) W425L possibly damaging Het
Arhgap27 A T 11: 103,223,831 (GRCm39) V823E probably damaging Het
Arhgef17 A G 7: 100,579,077 (GRCm39) S624P probably damaging Het
Arid5b T C 10: 68,021,897 (GRCm39) H231R probably damaging Het
Aspscr1 C A 11: 120,579,386 (GRCm39) T78N probably damaging Het
Auts2 T A 5: 131,501,288 (GRCm39) T42S probably damaging Het
Ccdc171 A G 4: 83,473,045 (GRCm39) D158G probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap61 T C 2: 145,781,913 (GRCm39) probably null Het
Chrna5 T C 9: 54,911,935 (GRCm39) V245A possibly damaging Het
Cntnap5c G A 17: 58,320,916 (GRCm39) G163R probably damaging Het
Col5a2 A G 1: 45,417,465 (GRCm39) probably null Het
Col5a2 T C 1: 45,433,936 (GRCm39) Q759R probably damaging Het
Comp A G 8: 70,829,796 (GRCm39) D340G probably benign Het
Cyfip1 T A 7: 55,576,143 (GRCm39) D1104E probably damaging Het
Dnah11 A T 12: 118,002,515 (GRCm39) S308T probably damaging Het
Dnah5 A G 15: 28,270,572 (GRCm39) H958R probably benign Het
Elp3 A G 14: 65,785,368 (GRCm39) Y478H probably damaging Het
Fam237b A T 5: 5,625,652 (GRCm39) Q116L possibly damaging Het
Fat3 T C 9: 16,288,281 (GRCm39) Y414C probably benign Het
Fbxo10 C A 4: 45,046,389 (GRCm39) A574S probably damaging Het
Fsip2 G T 2: 82,807,906 (GRCm39) L1408F probably benign Het
Fubp3 T C 2: 31,501,747 (GRCm39) V425A possibly damaging Het
Gm7168 A T 17: 14,169,846 (GRCm39) R404S probably benign Het
Gpd1 T G 15: 99,621,083 (GRCm39) F299C probably damaging Het
Gpr137 C T 19: 6,919,425 (GRCm39) probably benign Het
Grin3b T C 10: 79,809,242 (GRCm39) S331P probably benign Het
Grk3 T A 5: 113,089,584 (GRCm39) I281F probably damaging Het
Hoxb7 T A 11: 96,177,607 (GRCm39) S18R probably damaging Het
Igf1r C T 7: 67,864,681 (GRCm39) R1160* probably null Het
Itfg1 A G 8: 86,452,141 (GRCm39) probably null Het
Itgb8 T C 12: 119,166,190 (GRCm39) I114V probably benign Het
Kcnk1 A G 8: 126,752,123 (GRCm39) E243G possibly damaging Het
Kif27 A G 13: 58,491,822 (GRCm39) L439P probably damaging Het
Kif2c T A 4: 117,024,558 (GRCm39) Q279L probably benign Het
Kmt2d A T 15: 98,749,955 (GRCm39) probably benign Het
L3mbtl1 A G 2: 162,816,422 (GRCm39) T821A probably benign Het
Lrrc24 A T 15: 76,606,778 (GRCm39) M206K probably benign Het
Mamdc4 T G 2: 25,457,634 (GRCm39) K460Q possibly damaging Het
Mc5r C G 18: 68,471,741 (GRCm39) probably null Het
Myo10 T G 15: 25,726,611 (GRCm39) probably null Het
Myo1e T A 9: 70,246,066 (GRCm39) L419Q probably damaging Het
Myo6 C A 9: 80,207,854 (GRCm39) H1115Q probably damaging Het
Myo7a A G 7: 97,756,302 (GRCm39) V10A probably damaging Het
Myoz2 C T 3: 122,819,776 (GRCm39) R61H probably damaging Het
Ncdn G A 4: 126,645,796 (GRCm39) R38C probably damaging Het
Nckap1 T A 2: 80,350,900 (GRCm39) T736S probably benign Het
Ncor2 G A 5: 125,096,954 (GRCm39) A2325V probably damaging Het
Nid2 T A 14: 19,802,499 (GRCm39) V140E possibly damaging Het
Nlrp9c C A 7: 26,079,915 (GRCm39) D704Y probably benign Het
Notch3 T A 17: 32,377,699 (GRCm39) S126C probably damaging Het
Or2g7 T C 17: 38,378,839 (GRCm39) I259T probably damaging Het
Or5p60 A G 7: 107,724,122 (GRCm39) F116S probably benign Het
Or5w10 A T 2: 87,375,327 (GRCm39) L187H probably damaging Het
Or6c219 A T 10: 129,781,451 (GRCm39) L160* probably null Het
Or6c6c T C 10: 129,541,476 (GRCm39) M243T possibly damaging Het
Or6d15 A C 6: 116,559,658 (GRCm39) F83C probably damaging Het
Pdzd7 A G 19: 45,027,667 (GRCm39) I269T probably damaging Het
Phf3 A T 1: 30,845,287 (GRCm39) D1299E probably damaging Het
Pitx2 T A 3: 129,012,403 (GRCm39) Y271N probably damaging Het
Polk T C 13: 96,633,140 (GRCm39) E301G probably damaging Het
Prkdc C A 16: 15,557,388 (GRCm39) N2230K probably damaging Het
Prlr A G 15: 10,322,622 (GRCm39) E170G probably benign Het
Prss55 A G 14: 64,313,179 (GRCm39) I235T probably damaging Het
Psd3 T C 8: 68,413,217 (GRCm39) I724V probably benign Het
Rabep2 A G 7: 126,037,971 (GRCm39) T248A possibly damaging Het
Rbm26 T A 14: 105,354,509 (GRCm39) K949N probably benign Het
Rnf213 T A 11: 119,331,047 (GRCm39) D2085E probably damaging Het
Serpinb7 A T 1: 107,378,003 (GRCm39) H232L possibly damaging Het
Slu7 A G 11: 43,336,069 (GRCm39) Q484R probably benign Het
Smg1 A G 7: 117,745,021 (GRCm39) S3044P possibly damaging Het
Snrnp48 A G 13: 38,405,336 (GRCm39) D248G possibly damaging Het
Snrpc C A 17: 28,064,193 (GRCm39) P66Q unknown Het
Snrpn T A 7: 59,633,207 (GRCm39) probably benign Het
Spag17 T A 3: 99,846,672 (GRCm39) S65R possibly damaging Het
Srsf6 C A 2: 162,776,408 (GRCm39) probably benign Het
Stil T A 4: 114,898,979 (GRCm39) M1203K probably benign Het
Syt17 T C 7: 118,036,061 (GRCm39) T106A probably benign Het
Tbx15 C T 3: 99,259,562 (GRCm39) Q478* probably null Het
Tg A T 15: 66,609,397 (GRCm39) Q319L probably benign Het
Thada A G 17: 84,755,461 (GRCm39) L243P probably damaging Het
Thada G T 17: 84,755,462 (GRCm39) L243I probably damaging Het
Tnnt3 A G 7: 142,066,101 (GRCm39) R211G probably damaging Het
Togaram1 A T 12: 65,049,409 (GRCm39) Q1282L possibly damaging Het
Tpm3-rs7 T G 14: 113,552,379 (GRCm39) M91R probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttll7 T G 3: 146,621,535 (GRCm39) L378R probably damaging Het
Tyw1 T G 5: 130,287,834 (GRCm39) I22R probably damaging Het
Ubr3 T C 2: 69,846,711 (GRCm39) S1645P possibly damaging Het
Ubr4 T C 4: 139,120,364 (GRCm39) L263P probably damaging Het
Unc13c T C 9: 73,663,621 (GRCm39) E1071G possibly damaging Het
Vmn2r44 G T 7: 8,383,122 (GRCm39) D157E possibly damaging Het
Vps16 C T 2: 130,285,520 (GRCm39) T821I probably benign Het
Washc4 T C 10: 83,415,389 (GRCm39) V793A possibly damaging Het
Wdr35 G T 12: 9,027,435 (GRCm39) probably null Het
Zfp277 A G 12: 40,414,084 (GRCm39) F254L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GGATCAACACACTGTGGTAGGC -3'
(R):5'- CTAGCAGATGGTAAATCGGGC -3'

Sequencing Primer
(F):5'- TGGTAGGCCAGAACACAGGC -3'
(R):5'- CAGATGGTAAATCGGGCTTTCC -3'
Posted On 2014-06-23