Incidental Mutation 'R9036:Mysm1'
ID 687374
Institutional Source Beutler Lab
Gene Symbol Mysm1
Ensembl Gene ENSMUSG00000062627
Gene Name myb-like, SWIRM and MPN domains 1
Synonyms C130067A03Rik, C530050H10Rik
MMRRC Submission 068865-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R9036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 94830277-94867337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94835294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 790 (T790A)
Ref Sequence ENSEMBL: ENSMUSP00000075269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075872]
AlphaFold Q69Z66
Predicted Effect probably benign
Transcript: ENSMUST00000075872
AA Change: T790A

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000075269
Gene: ENSMUSG00000062627
AA Change: T790A

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
SANT 114 162 3.24e-13 SMART
low complexity region 214 229 N/A INTRINSIC
Pfam:SWIRM 365 452 3.1e-22 PFAM
JAB_MPN 569 691 1.63e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes exhibit pigmentation, epidermis, hair follicle and hair cycle abnormalities. Abnormalities in behavior, the hematopoietic and immune systems, body size, metabolism, and skeletal and eye phenotypes are also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 G T 11: 54,227,840 (GRCm39) probably null Het
Anapc5 A G 5: 122,957,716 (GRCm39) L69P possibly damaging Het
Aoc1l3 CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC CCTAAATTTCC 6: 48,965,074 (GRCm39) probably benign Het
Arfgef1 A T 1: 10,259,055 (GRCm39) S681T probably benign Het
Arhgef19 A G 4: 140,976,549 (GRCm39) D437G probably damaging Het
Arhgef25 A G 10: 127,019,089 (GRCm39) V576A probably benign Het
Arl5b T C 2: 15,073,012 (GRCm39) probably null Het
Atg10 T A 13: 91,189,071 (GRCm39) T80S probably benign Het
BC034090 A G 1: 155,117,419 (GRCm39) V233A possibly damaging Het
Bicdl2 C T 17: 23,887,158 (GRCm39) R482C probably damaging Het
Ccdc63 G A 5: 122,247,346 (GRCm39) P500S probably benign Het
Ccn2 A T 10: 24,472,647 (GRCm39) T186S probably benign Het
Ccng1 A T 11: 40,643,078 (GRCm39) I123K possibly damaging Het
Ccp110 C T 7: 118,324,680 (GRCm39) S734F probably damaging Het
Cds2 T C 2: 132,139,614 (GRCm39) probably null Het
Cenpw G A 10: 30,074,523 (GRCm39) T58I probably benign Het
Cfap61 T A 2: 145,850,839 (GRCm39) L326I probably benign Het
Cgn T A 3: 94,674,551 (GRCm39) Q862L possibly damaging Het
Cntrl T A 2: 35,016,071 (GRCm39) D362E probably damaging Het
Col22a1 C T 15: 71,762,431 (GRCm39) G76E probably damaging Het
Cplane1 C T 15: 8,252,622 (GRCm39) T1948I possibly damaging Het
Crip2 A G 12: 113,108,030 (GRCm39) T140A probably benign Het
Csde1 T C 3: 102,950,976 (GRCm39) V229A probably damaging Het
Cyp2d34 A G 15: 82,500,523 (GRCm39) F439L probably damaging Het
Dync1h1 A G 12: 110,606,186 (GRCm39) T2419A probably benign Het
Dync2h1 A T 9: 7,051,495 (GRCm39) F3147I probably damaging Het
Dynlt1f T C 17: 6,916,707 (GRCm39) T101A probably benign Het
Efcab3 A G 11: 104,927,601 (GRCm39) H4790R probably benign Het
Efcab8 G A 2: 153,622,888 (GRCm39) S19N Het
Eno2 A T 6: 124,740,091 (GRCm39) I315K possibly damaging Het
Erich3 A G 3: 154,468,886 (GRCm39) T1113A unknown Het
Fam217a A T 13: 35,095,007 (GRCm39) Y251N possibly damaging Het
Fcrlb A T 1: 170,734,938 (GRCm39) H396Q probably benign Het
Fcsk A G 8: 111,614,064 (GRCm39) V693A probably benign Het
Fgd5 A T 6: 92,046,447 (GRCm39) K1397* probably null Het
Frem1 C A 4: 82,831,785 (GRCm39) L2010F probably benign Het
Fzd8 A G 18: 9,214,661 (GRCm39) Y581C probably damaging Het
Gcc2 T C 10: 58,106,411 (GRCm39) V549A possibly damaging Het
Gcnt4 G A 13: 97,083,042 (GRCm39) V113I probably benign Het
Gldn A G 9: 54,245,747 (GRCm39) I433V probably benign Het
Gm3336 A G 8: 71,173,069 (GRCm39) D27G unknown Het
Gm6133 T A 18: 78,393,146 (GRCm39) Y47N probably damaging Het
Gm8257 A T 14: 44,893,877 (GRCm39) N62K probably benign Het
Gpr18 T G 14: 122,149,667 (GRCm39) R119S probably damaging Het
Grm5 A T 7: 87,685,397 (GRCm39) I505F possibly damaging Het
Hdgfl1 T C 13: 26,953,428 (GRCm39) E215G probably benign Het
Heg1 T A 16: 33,527,339 (GRCm39) C100S probably benign Het
Isg20l2 T C 3: 87,839,302 (GRCm39) V171A probably benign Het
Lrrc49 A T 9: 60,495,150 (GRCm39) C694S probably benign Het
Map7d1 A T 4: 126,133,911 (GRCm39) I217N probably damaging Het
Mbnl2 A T 14: 120,562,712 (GRCm39) Q21L probably benign Het
Mfsd10 A T 5: 34,792,751 (GRCm39) F220Y probably benign Het
Mmp1b A C 9: 7,387,909 (GRCm39) N28K probably null Het
Muc16 A T 9: 18,555,975 (GRCm39) N3439K unknown Het
Myef2l C A 3: 10,157,341 (GRCm39) Q495K unknown Het
Myo9a A T 9: 59,687,584 (GRCm39) K230* probably null Het
Nell2 C T 15: 95,194,117 (GRCm39) C532Y probably damaging Het
Nmnat1 T A 4: 149,553,482 (GRCm39) N210I probably damaging Het
Or14j7 T G 17: 38,235,168 (GRCm39) V237G probably benign Het
Or2aj6 A T 16: 19,443,295 (GRCm39) L185* probably null Het
Or4k41 T C 2: 111,280,343 (GRCm39) I286T probably damaging Het
Or7g16 G A 9: 18,727,569 (GRCm39) T7I probably damaging Het
Pabpc6 T C 17: 9,888,281 (GRCm39) D90G probably damaging Het
Pacs2 A T 12: 113,026,104 (GRCm39) I554F possibly damaging Het
Padi3 C A 4: 140,523,004 (GRCm39) V323L probably benign Het
Piezo1 G A 8: 123,215,090 (GRCm39) P1484L Het
Pogk A G 1: 166,227,254 (GRCm39) I299T possibly damaging Het
Ptprk A G 10: 28,461,928 (GRCm39) I1164V probably benign Het
Raph1 A G 1: 60,542,124 (GRCm39) M278T unknown Het
Rasa3 T A 8: 13,645,851 (GRCm39) Q163L probably benign Het
Rbm6 T A 9: 107,660,911 (GRCm39) K884I probably damaging Het
Rtl1 A G 12: 109,559,691 (GRCm39) V716A probably benign Het
Sag A G 1: 87,749,054 (GRCm39) K151R probably damaging Het
Scara5 G A 14: 66,000,197 (GRCm39) V456M probably benign Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc4a1 A T 11: 102,243,279 (GRCm39) V784D probably damaging Het
Sstr1 T C 12: 58,259,569 (GRCm39) I64T possibly damaging Het
Steap1 A G 5: 5,790,708 (GRCm39) I80T probably benign Het
Tbc1d24 T A 17: 24,427,491 (GRCm39) D157V probably benign Het
Thsd7a T C 6: 12,418,249 (GRCm39) E660G Het
Trappc3l A G 10: 33,932,786 (GRCm39) probably benign Het
Tsc22d2 T C 3: 58,323,497 (GRCm39) S130P probably benign Het
Tti2 T A 8: 31,645,814 (GRCm39) I376N probably damaging Het
Ttll2 C A 17: 7,619,054 (GRCm39) W291L probably benign Het
Ttll3 G A 6: 113,376,657 (GRCm39) V345I possibly damaging Het
Ttn A G 2: 76,565,046 (GRCm39) Y28394H probably damaging Het
Usp45 A G 4: 21,832,201 (GRCm39) Y684C probably damaging Het
Vdr A G 15: 97,765,089 (GRCm39) S217P probably benign Het
Xpot A G 10: 121,447,580 (GRCm39) L105P probably damaging Het
Zan A G 5: 137,464,206 (GRCm39) I533T probably damaging Het
Zbtb8a T C 4: 129,248,059 (GRCm39) E404G probably benign Het
Zfp106 T A 2: 120,369,906 (GRCm39) I62F probably damaging Het
Zfp451 A T 1: 33,815,562 (GRCm39) F796Y probably damaging Het
Other mutations in Mysm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Mysm1 APN 4 94,861,146 (GRCm39) splice site probably benign
IGL00657:Mysm1 APN 4 94,848,602 (GRCm39) missense probably benign 0.17
IGL00908:Mysm1 APN 4 94,847,172 (GRCm39) missense probably damaging 1.00
IGL01095:Mysm1 APN 4 94,856,106 (GRCm39) critical splice donor site probably null
IGL02454:Mysm1 APN 4 94,858,741 (GRCm39) splice site probably benign
IGL02544:Mysm1 APN 4 94,840,543 (GRCm39) missense probably damaging 1.00
IGL02815:Mysm1 APN 4 94,845,285 (GRCm39) critical splice donor site probably null
IGL02966:Mysm1 APN 4 94,863,523 (GRCm39) missense probably benign 0.31
IGL03273:Mysm1 APN 4 94,853,955 (GRCm39) missense probably damaging 1.00
R1746:Mysm1 UTSW 4 94,836,648 (GRCm39) nonsense probably null
R1826:Mysm1 UTSW 4 94,858,923 (GRCm39) missense probably benign 0.01
R1980:Mysm1 UTSW 4 94,840,450 (GRCm39) missense probably benign 0.27
R3424:Mysm1 UTSW 4 94,853,558 (GRCm39) missense probably benign 0.05
R3700:Mysm1 UTSW 4 94,858,889 (GRCm39) missense probably benign 0.04
R4243:Mysm1 UTSW 4 94,857,248 (GRCm39) missense probably benign 0.15
R4798:Mysm1 UTSW 4 94,853,910 (GRCm39) missense probably benign 0.00
R4884:Mysm1 UTSW 4 94,847,185 (GRCm39) missense probably damaging 0.98
R4983:Mysm1 UTSW 4 94,861,207 (GRCm39) missense probably benign 0.01
R5024:Mysm1 UTSW 4 94,839,253 (GRCm39) missense possibly damaging 0.47
R5213:Mysm1 UTSW 4 94,836,614 (GRCm39) missense probably damaging 0.96
R5758:Mysm1 UTSW 4 94,840,598 (GRCm39) missense probably damaging 0.98
R6129:Mysm1 UTSW 4 94,856,192 (GRCm39) missense probably damaging 1.00
R7399:Mysm1 UTSW 4 94,849,964 (GRCm39) missense probably benign 0.29
R7535:Mysm1 UTSW 4 94,840,452 (GRCm39) missense probably benign 0.01
R7793:Mysm1 UTSW 4 94,853,369 (GRCm39) missense probably damaging 0.99
R7861:Mysm1 UTSW 4 94,835,204 (GRCm39) makesense probably null
R7923:Mysm1 UTSW 4 94,850,002 (GRCm39) missense probably damaging 1.00
R8117:Mysm1 UTSW 4 94,848,627 (GRCm39) nonsense probably null
R8352:Mysm1 UTSW 4 94,863,510 (GRCm39) missense probably damaging 0.97
R8389:Mysm1 UTSW 4 94,853,849 (GRCm39) missense probably benign 0.00
R8452:Mysm1 UTSW 4 94,863,510 (GRCm39) missense probably damaging 0.97
R8738:Mysm1 UTSW 4 94,856,196 (GRCm39) missense probably damaging 1.00
R9497:Mysm1 UTSW 4 94,848,635 (GRCm39) missense probably benign 0.06
X0021:Mysm1 UTSW 4 94,863,462 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACTATGAGAACAAGGGCTC -3'
(R):5'- CCCTCGTCTGAGATTTGTGAGG -3'

Sequencing Primer
(F):5'- ATGAGAACAAGGGCTCTCTCTTC -3'
(R):5'- ACAGTGTTTCTCATTTGGGTATTAAG -3'
Posted On 2021-11-19