Incidental Mutation 'R0127:Kmt5b'
ID21492
Institutional Source Beutler Lab
Gene Symbol Kmt5b
Ensembl Gene ENSMUSG00000045098
Gene Namelysine methyltransferase 5B
SynonymsC630029K18Rik, Suv420h1, Suv4-20h1
MMRRC Submission 038412-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0127 (G1)
Quality Score225
Status Validated (trace)
Chromosome19
Chromosomal Location3767421-3818303 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to G at 3786465 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000135563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005518] [ENSMUST00000052699] [ENSMUST00000113968] [ENSMUST00000113970] [ENSMUST00000113972] [ENSMUST00000113973] [ENSMUST00000113974] [ENSMUST00000113977] [ENSMUST00000152935] [ENSMUST00000176262] [ENSMUST00000176407] [ENSMUST00000176512] [ENSMUST00000176926] [ENSMUST00000177355]
Predicted Effect probably null
Transcript: ENSMUST00000005518
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005518
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 126 4e-37 BLAST
SET 199 315 3.46e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000052699
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060162
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 126 1e-36 BLAST
SET 199 315 3.46e-17 SMART
low complexity region 368 379 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113968
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109601
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 126 4e-37 BLAST
SET 199 315 3.46e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113970
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109603
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 126 1e-36 BLAST
SET 199 315 3.46e-17 SMART
low complexity region 368 379 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113972
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 126 1e-34 BLAST
SET 199 315 3.46e-17 SMART
low complexity region 368 379 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
low complexity region 536 547 N/A INTRINSIC
low complexity region 814 846 N/A INTRINSIC
low complexity region 863 874 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113973
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 126 1e-34 BLAST
SET 199 315 3.46e-17 SMART
low complexity region 368 379 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
low complexity region 536 547 N/A INTRINSIC
low complexity region 814 846 N/A INTRINSIC
low complexity region 863 874 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113974
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 107 6e-21 BLAST
SET 176 292 3.46e-17 SMART
low complexity region 345 356 N/A INTRINSIC
low complexity region 374 385 N/A INTRINSIC
low complexity region 416 429 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
low complexity region 791 823 N/A INTRINSIC
low complexity region 840 851 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113977
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 107 6e-21 BLAST
SET 176 292 3.46e-17 SMART
low complexity region 345 356 N/A INTRINSIC
low complexity region 374 385 N/A INTRINSIC
low complexity region 416 429 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
low complexity region 791 823 N/A INTRINSIC
low complexity region 840 851 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152935
SMART Domains Protein: ENSMUSP00000115984
Gene: ENSMUSG00000045098

DomainStartEndE-ValueType
Blast:SET 16 84 9e-39 BLAST
PDB:3S8P|B 22 212 1e-139 PDB
Blast:SET 157 212 4e-32 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155618
Predicted Effect probably null
Transcript: ENSMUST00000176262
AA Change: M1V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 107 6e-21 BLAST
SET 176 292 3.46e-17 SMART
low complexity region 345 356 N/A INTRINSIC
low complexity region 374 385 N/A INTRINSIC
low complexity region 416 429 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
low complexity region 791 823 N/A INTRINSIC
low complexity region 840 851 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000176407
AA Change: M1V

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134897
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 87 5e-12 BLAST
PDB:3S8P|B 64 87 4e-9 PDB
Predicted Effect probably null
Transcript: ENSMUST00000176512
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135004
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 93 6e-17 BLAST
PDB:3S8P|B 64 93 6e-14 PDB
Predicted Effect probably null
Transcript: ENSMUST00000176926
AA Change: M1V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135756
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 126 3e-36 BLAST
SET 199 315 3.46e-17 SMART
low complexity region 368 379 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000177355
AA Change: M1V

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135590
Gene: ENSMUSG00000045098
AA Change: M1V

DomainStartEndE-ValueType
Blast:SET 58 111 2e-30 BLAST
PDB:3S8P|B 64 111 2e-27 PDB
Meta Mutation Damage Score 0.386 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 99% (85/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are born at sub-Mendelian ratios, are smaller than control littermates, and die within a few hours of birth, probably due to alveolar defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,707,454 T152A probably benign Het
Abca1 T C 4: 53,067,155 I1351V probably benign Het
Acap1 A T 11: 69,887,217 probably benign Het
Als2cl T C 9: 110,891,867 L521P probably damaging Het
Ankrd50 T C 3: 38,456,235 D661G probably benign Het
Atp6v1b2 T A 8: 69,103,460 N262K probably damaging Het
Baz1a T A 12: 54,898,706 D1288V possibly damaging Het
Bbs1 A T 19: 4,895,029 D371E probably benign Het
Bphl A G 13: 34,064,046 probably benign Het
Caskin2 C A 11: 115,800,994 R988S probably damaging Het
Cbr1 C A 16: 93,609,987 T197N probably damaging Het
Ccdc88c T C 12: 100,935,740 E1213G possibly damaging Het
Ccna1 A G 3: 55,049,748 F83L probably damaging Het
Cep290 T A 10: 100,536,925 probably benign Het
Cep89 C A 7: 35,428,262 T543K possibly damaging Het
Cmtm7 T C 9: 114,781,670 M45V probably benign Het
Col16a1 T A 4: 130,052,857 V91E probably damaging Het
Csmd3 T C 15: 47,981,930 N920S probably benign Het
Cyp26b1 A G 6: 84,577,208 probably benign Het
Dao T A 5: 114,019,963 H215Q probably damaging Het
Dido1 T C 2: 180,671,824 D885G probably benign Het
Dlx4 T G 11: 95,141,229 M240L probably benign Het
Dnah5 C T 15: 28,294,925 P1351L probably damaging Het
Dnah6 T A 6: 73,038,734 probably benign Het
Dock5 A T 14: 67,846,042 D139E probably benign Het
Fam234b T C 6: 135,218,823 probably benign Het
Fat2 T C 11: 55,289,286 T1410A probably benign Het
Fsip2 T A 2: 82,984,925 N3667K probably benign Het
Gm14085 T A 2: 122,517,069 probably null Het
Gm5114 T C 7: 39,408,456 I580V probably benign Het
Hapln1 A T 13: 89,607,869 Y264F probably benign Het
Heatr5a A G 12: 51,925,405 V694A probably benign Het
Hps1 A G 19: 42,771,111 probably benign Het
Igsf9b G T 9: 27,334,385 R1216L possibly damaging Het
Il4ra G T 7: 125,569,070 C87F probably damaging Het
Krit1 A G 5: 3,822,178 E401G probably damaging Het
Lamp1 T C 8: 13,174,491 V385A probably damaging Het
Ly6g5b A G 17: 35,114,591 Y82H probably damaging Het
Mapre2 A G 18: 23,804,175 I25V probably benign Het
Mep1a A G 17: 43,497,886 probably benign Het
Mgea5 A T 19: 45,771,888 I277N probably damaging Het
Mkrn1 A G 6: 39,399,275 W466R probably benign Het
Muc2 C A 7: 141,748,954 F11L probably benign Het
Nebl T A 2: 17,392,983 M501L probably benign Het
Olfr1151 A G 2: 87,857,483 I103V probably benign Het
Olfr1179 A G 2: 88,402,355 V193A probably benign Het
Olfr744 A G 14: 50,618,332 I37V probably benign Het
Olfr951 A G 9: 39,393,942 I50M probably benign Het
Pkd1l2 A G 8: 117,050,048 probably benign Het
Pkhd1l1 A G 15: 44,554,605 M2886V probably damaging Het
Pop5 T A 5: 115,240,171 L58H probably damaging Het
Prkch C A 12: 73,721,787 H444N possibly damaging Het
Reln T C 5: 22,004,136 D1148G probably damaging Het
Rffl G A 11: 82,812,632 T120M probably damaging Het
Rmdn2 A T 17: 79,670,569 S320C probably damaging Het
Rrbp1 C T 2: 143,989,944 R101H probably benign Het
Rtf1 G A 2: 119,726,743 R443H probably damaging Het
Serac1 G T 17: 6,048,840 L559I probably damaging Het
Slc12a1 A G 2: 125,219,762 R958G probably damaging Het
Slc15a3 T A 19: 10,855,986 W456R probably damaging Het
Slc35f5 C T 1: 125,576,205 P290L probably damaging Het
Slc35g2 C T 9: 100,553,117 R167Q probably benign Het
Spag4 T C 2: 156,068,042 V302A probably damaging Het
Spire2 A C 8: 123,358,097 probably benign Het
Sptbn2 G T 19: 4,724,744 V142L probably damaging Het
Syt17 T A 7: 118,409,941 D352V probably damaging Het
Tarsl2 A T 7: 65,664,969 D425V probably benign Het
Tctex1d1 T C 4: 103,002,452 probably benign Het
Thsd7a A G 6: 12,554,908 S326P probably benign Het
Tnpo2 T C 8: 85,040,628 S64P probably damaging Het
Tonsl G T 15: 76,633,485 A678D probably benign Het
Trim12c A G 7: 104,340,906 probably null Het
Tsc22d1 A G 14: 76,418,981 T885A possibly damaging Het
Ttn T C 2: 76,742,198 D26117G probably damaging Het
Ttn T A 2: 76,877,011 probably benign Het
Ugt3a1 T C 15: 9,306,256 F164L probably benign Het
Vmn2r89 A G 14: 51,455,703 N170S probably damaging Het
Vrk2 G T 11: 26,534,313 probably benign Het
Wt1 C A 2: 105,133,457 D207E probably damaging Het
Zbtb46 G A 2: 181,411,815 A368V probably benign Het
Zc3h13 A T 14: 75,323,254 D428V unknown Het
Zcchc8 C G 5: 123,707,337 G320A probably damaging Het
Znfx1 T C 2: 167,044,210 E810G possibly damaging Het
Other mutations in Kmt5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Kmt5b APN 19 3786618 missense possibly damaging 0.86
IGL02005:Kmt5b APN 19 3786538 missense possibly damaging 0.50
IGL02058:Kmt5b APN 19 3793181 missense probably damaging 1.00
IGL02069:Kmt5b APN 19 3807335 missense probably damaging 1.00
IGL02395:Kmt5b APN 19 3814887 missense probably benign 0.01
IGL02701:Kmt5b APN 19 3796681 missense probably benign 0.08
P0047:Kmt5b UTSW 19 3793223 splice site probably benign
R1574:Kmt5b UTSW 19 3786633 splice site probably null
R1574:Kmt5b UTSW 19 3786633 splice site probably null
R1797:Kmt5b UTSW 19 3814833 missense probably benign 0.03
R2178:Kmt5b UTSW 19 3815372 missense possibly damaging 0.68
R2418:Kmt5b UTSW 19 3807266 missense probably benign 0.00
R4290:Kmt5b UTSW 19 3802193 missense possibly damaging 0.51
R4789:Kmt5b UTSW 19 3815330 missense probably benign 0.00
R4939:Kmt5b UTSW 19 3815245 missense possibly damaging 0.88
R5133:Kmt5b UTSW 19 3802240 missense probably damaging 1.00
R5392:Kmt5b UTSW 19 3802127 missense possibly damaging 0.84
R5568:Kmt5b UTSW 19 3786538 missense probably benign 0.00
R6029:Kmt5b UTSW 19 3802104 missense probably damaging 0.99
R6184:Kmt5b UTSW 19 3804499 missense probably damaging 1.00
R6649:Kmt5b UTSW 19 3807295 missense probably damaging 0.96
R7043:Kmt5b UTSW 19 3815220 missense possibly damaging 0.47
R7131:Kmt5b UTSW 19 3815412 missense probably benign 0.00
R7203:Kmt5b UTSW 19 3814147 missense probably damaging 1.00
R7287:Kmt5b UTSW 19 3804501 missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GCGAACAGAACTTCACCTAGATGCC -3'
(R):5'- TACATACATCTGCTGGACCGCCTC -3'

Sequencing Primer
(F):5'- TGCAGTTCACAGAGTGTTACC -3'
(R):5'- TGGACCGCCTCTCAACG -3'
Posted On2013-04-11