Incidental Mutation 'R4135:Msl1'
ID 314859
Institutional Source Beutler Lab
Gene Symbol Msl1
Ensembl Gene ENSMUSG00000052915
Gene Name male specific lethal 1
Synonyms 4930463F05Rik, 4121402D02Rik, 2810017F12Rik
MMRRC Submission 040995-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R4135 (G1)
Quality Score 138
Status Validated
Chromosome 11
Chromosomal Location 98686342-98698685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98687126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 157 (D157G)
Ref Sequence ENSEMBL: ENSMUSP00000103111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037915] [ENSMUST00000037930] [ENSMUST00000107485] [ENSMUST00000107487]
AlphaFold Q6PDM1
Predicted Effect possibly damaging
Transcript: ENSMUST00000037915
AA Change: D157G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042792
Gene: ENSMUSG00000052915
AA Change: D157G

DomainStartEndE-ValueType
low complexity region 10 15 N/A INTRINSIC
low complexity region 55 91 N/A INTRINSIC
low complexity region 153 196 N/A INTRINSIC
Pfam:MSL1_dimer 216 252 5e-22 PFAM
low complexity region 289 300 N/A INTRINSIC
low complexity region 441 453 N/A INTRINSIC
PEHE 475 593 1.8e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000037930
SMART Domains Protein: ENSMUSP00000043328
Gene: ENSMUSG00000052915

DomainStartEndE-ValueType
coiled coil region 18 56 N/A INTRINSIC
low complexity region 59 70 N/A INTRINSIC
low complexity region 211 223 N/A INTRINSIC
PEHE 229 347 2.73e-41 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107485
AA Change: D157G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103109
Gene: ENSMUSG00000052915
AA Change: D157G

DomainStartEndE-ValueType
low complexity region 10 15 N/A INTRINSIC
low complexity region 55 91 N/A INTRINSIC
low complexity region 153 196 N/A INTRINSIC
low complexity region 210 222 N/A INTRINSIC
SCOP:d1fxkc_ 235 307 2e-3 SMART
low complexity region 441 453 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107487
AA Change: D157G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103111
Gene: ENSMUSG00000052915
AA Change: D157G

DomainStartEndE-ValueType
low complexity region 10 15 N/A INTRINSIC
low complexity region 55 91 N/A INTRINSIC
low complexity region 153 196 N/A INTRINSIC
low complexity region 210 222 N/A INTRINSIC
SCOP:d1fxkc_ 235 307 6e-3 SMART
low complexity region 441 453 N/A INTRINSIC
PEHE 459 577 2.73e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126969
SMART Domains Protein: ENSMUSP00000116598
Gene: ENSMUSG00000052915

DomainStartEndE-ValueType
low complexity region 54 66 N/A INTRINSIC
Pfam:PEHE 88 141 1.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153181
Meta Mutation Damage Score 0.0917 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T A 1: 159,905,092 (GRCm39) probably benign Het
Bak1 T A 17: 27,240,244 (GRCm39) T148S possibly damaging Het
Cdc25a C A 9: 109,710,585 (GRCm39) H157Q possibly damaging Het
Chst5 T C 8: 112,616,816 (GRCm39) Y268C probably damaging Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Ctsr T C 13: 61,309,084 (GRCm39) T224A probably benign Het
Cux1 T C 5: 136,336,750 (GRCm39) K921E probably damaging Het
Dcaf12l1 T C X: 43,878,330 (GRCm39) N156S probably damaging Het
Dennd2d T A 3: 106,389,977 (GRCm39) D2E probably benign Het
Dock2 T C 11: 34,605,328 (GRCm39) K264E possibly damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Gabrb3 G T 7: 57,241,036 (GRCm39) A5S probably benign Het
Gcnt2 T A 13: 41,041,283 (GRCm39) N147K probably damaging Het
Gm6987 T A X: 93,068,216 (GRCm39) noncoding transcript Het
Hbp1 A T 12: 31,984,421 (GRCm39) L262Q probably damaging Het
Hsd11b2 T C 8: 106,249,798 (GRCm39) V303A probably benign Het
Htr5a A G 5: 28,047,690 (GRCm39) M82V probably benign Het
Mcc T C 18: 44,857,707 (GRCm39) D136G probably benign Het
Mrpl32 C T 13: 14,787,564 (GRCm39) V14M probably damaging Het
Mthfd1 G A 12: 76,329,648 (GRCm39) probably null Het
Nkx6-1 T A 5: 101,807,371 (GRCm39) D337V probably damaging Het
Nlrp5 T C 7: 23,117,823 (GRCm39) W516R possibly damaging Het
Or2ag1 A G 7: 106,313,210 (GRCm39) L226P probably damaging Het
Or2l13b T A 16: 19,349,452 (GRCm39) I73F possibly damaging Het
Or2y3 A G 17: 38,393,248 (GRCm39) V207A possibly damaging Het
Or4l1 T C 14: 50,166,272 (GRCm39) H243R probably damaging Het
Or5af1 C A 11: 58,722,820 (GRCm39) T280K probably damaging Het
Pate5 A G 9: 35,750,724 (GRCm39) S33P possibly damaging Het
Pold3 T A 7: 99,749,854 (GRCm39) R104* probably null Het
Rapsn A T 2: 90,867,162 (GRCm39) N155Y probably damaging Het
Rorc C A 3: 94,296,826 (GRCm39) Q269K probably damaging Het
Rreb1 A T 13: 38,131,099 (GRCm39) N1418Y probably damaging Het
Rusc2 G A 4: 43,425,563 (GRCm39) D1223N possibly damaging Het
Sema6d T C 2: 124,506,040 (GRCm39) I616T probably damaging Het
Ttc6 T A 12: 57,679,581 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,338,810 (GRCm39) Y58F probably damaging Het
Vmn2r129 T G 4: 156,691,085 (GRCm39) noncoding transcript Het
Vwa5b1 A T 4: 138,321,641 (GRCm39) M384K possibly damaging Het
Washc3 G A 10: 88,055,142 (GRCm39) E111K probably benign Het
Xirp2 A G 2: 67,355,741 (GRCm39) S3501G probably benign Het
Zfp1004 A T 2: 150,023,788 (GRCm39) probably benign Het
Zfp352 C T 4: 90,113,261 (GRCm39) T467M probably damaging Het
Zfp729a C A 13: 67,767,925 (GRCm39) C768F probably damaging Het
Zfp810 T C 9: 22,190,369 (GRCm39) K180E probably damaging Het
Other mutations in Msl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Msl1 APN 11 98,696,247 (GRCm39) missense probably damaging 1.00
IGL01743:Msl1 APN 11 98,696,245 (GRCm39) missense probably damaging 1.00
IGL01845:Msl1 APN 11 98,696,191 (GRCm39) splice site probably null
R1458:Msl1 UTSW 11 98,694,808 (GRCm39) splice site probably benign
R2377:Msl1 UTSW 11 98,694,789 (GRCm39) missense probably damaging 1.00
R2979:Msl1 UTSW 11 98,691,050 (GRCm39) missense possibly damaging 0.91
R4801:Msl1 UTSW 11 98,694,795 (GRCm39) nonsense probably null
R4802:Msl1 UTSW 11 98,694,795 (GRCm39) nonsense probably null
R5971:Msl1 UTSW 11 98,689,519 (GRCm39) missense probably benign 0.30
R6079:Msl1 UTSW 11 98,689,519 (GRCm39) missense probably benign 0.30
R6165:Msl1 UTSW 11 98,695,673 (GRCm39) missense probably damaging 1.00
R6733:Msl1 UTSW 11 98,690,882 (GRCm39) missense probably damaging 1.00
R6737:Msl1 UTSW 11 98,694,908 (GRCm39) missense probably damaging 1.00
R7654:Msl1 UTSW 11 98,686,937 (GRCm39) missense possibly damaging 0.72
R8316:Msl1 UTSW 11 98,691,074 (GRCm39) missense probably damaging 0.98
U15987:Msl1 UTSW 11 98,689,519 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- GGCATCGTAAGCTCAAGGAG -3'
(R):5'- AAGGATCTGTTTGAGGCAGG -3'

Sequencing Primer
(F):5'- GGGCTTGTTACTCCCAGC -3'
(R):5'- TGACTGGAGGCTCCCGAG -3'
Posted On 2015-05-14