Incidental Mutation 'R2310:Msl3l2'
ID244746
Institutional Source Beutler Lab
Gene Symbol Msl3l2
Ensembl Gene ENSMUSG00000047669
Gene NameMSL3 like 2
Synonyms
MMRRC Submission 040309-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #R2310 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location56106917-56116880 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 56115325 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 49 (R49S)
Ref Sequence ENSEMBL: ENSMUSP00000051220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063138] [ENSMUST00000099739]
Predicted Effect probably benign
Transcript: ENSMUST00000063138
AA Change: R49S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000051220
Gene: ENSMUSG00000047669
AA Change: R49S

DomainStartEndE-ValueType
Pfam:MRG 30 352 1.2e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099739
SMART Domains Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122

DomainStartEndE-ValueType
Pfam:BROMI 12 1293 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219385
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10l A C 4: 140,593,118 C136W probably damaging Het
Ascc3 T A 10: 50,748,892 H1625Q probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Cpa3 C T 3: 20,227,223 C173Y probably damaging Het
Cyp2c65 A G 19: 39,093,382 T451A probably benign Het
Ddx41 G A 13: 55,534,480 R205W possibly damaging Het
Efhd1 T C 1: 87,264,628 L60P probably damaging Het
Flrt2 A G 12: 95,780,090 T401A probably benign Het
Frmd4a GAA G 2: 4,572,399 probably null Het
Gas2l2 A G 11: 83,427,439 V148A possibly damaging Het
Golga5 A G 12: 102,492,161 E621G probably damaging Het
Gsap A T 5: 21,196,090 R74* probably null Het
Intu C T 3: 40,653,813 A85V probably benign Het
Kansl3 T A 1: 36,343,364 I860F probably damaging Het
Kif23 A G 9: 61,924,144 S715P probably damaging Het
Map3k8 A T 18: 4,349,001 C106S probably benign Het
Mcc T C 18: 44,431,366 E934G probably damaging Het
Mrpl19 A T 6: 81,964,073 probably null Het
Muc6 T A 7: 141,637,531 I2410F possibly damaging Het
Olfr1246 A G 2: 89,590,450 S222P probably damaging Het
Olfr720 A G 14: 14,175,836 V82A probably benign Het
Pip5k1c T G 10: 81,306,308 S117R probably damaging Het
Ppfia2 T C 10: 106,854,980 S561P probably damaging Het
Pramef12 A T 4: 144,392,905 probably null Het
Rassf5 A T 1: 131,244,740 W131R probably damaging Het
Shq1 C T 6: 100,631,002 W316* probably null Het
Slc45a4 A G 15: 73,589,560 Y87H probably damaging Het
Sptbn2 A G 19: 4,718,935 D32G probably benign Het
Tjp1 C T 7: 65,329,742 R345Q possibly damaging Het
Tnrc18 C G 5: 142,788,553 V174L probably damaging Het
Trmt6 G T 2: 132,808,912 P259T probably damaging Het
Ubap1 T A 4: 41,379,341 V185E possibly damaging Het
Ulk1 C T 5: 110,789,357 R691Q probably benign Het
Vmn2r112 T A 17: 22,603,115 V258E probably damaging Het
Wnk2 T C 13: 49,050,577 T1979A probably damaging Het
Xirp2 A G 2: 67,526,247 D3784G probably benign Het
Zfp119a A T 17: 55,865,440 Y468N probably benign Het
Other mutations in Msl3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Msl3l2 APN 10 56115925 missense probably benign 0.17
IGL01359:Msl3l2 APN 10 56116244 missense probably damaging 0.97
IGL02379:Msl3l2 APN 10 56115921 missense possibly damaging 0.88
R0364:Msl3l2 UTSW 10 56115851 missense possibly damaging 0.90
R0478:Msl3l2 UTSW 10 56115315 missense probably damaging 0.99
R0693:Msl3l2 UTSW 10 56115851 missense possibly damaging 0.90
R1305:Msl3l2 UTSW 10 56115535 missense probably damaging 1.00
R2059:Msl3l2 UTSW 10 56115944 missense probably damaging 1.00
R2377:Msl3l2 UTSW 10 56115563 missense probably damaging 1.00
R2849:Msl3l2 UTSW 10 56115442 missense probably benign 0.37
R4596:Msl3l2 UTSW 10 56115645 missense probably benign 0.00
R4834:Msl3l2 UTSW 10 56115559 missense probably damaging 1.00
R5380:Msl3l2 UTSW 10 56115572 missense probably damaging 1.00
R6142:Msl3l2 UTSW 10 56115365 missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TGAGCCTGCCAGGAAAACAG -3'
(R):5'- GTACTGAGCCTGTTCCTGAG -3'

Sequencing Primer
(F):5'- TGCCAGGAAAACAGCAGCC -3'
(R):5'- TTCCTGAGGGTAGAGCAGCAC -3'
Posted On2014-10-30