Incidental Mutation 'R9199:Kmt5b'
ID 698131
Institutional Source Beutler Lab
Gene Symbol Kmt5b
Ensembl Gene ENSMUSG00000045098
Gene Name lysine methyltransferase 5B
Synonyms Suv420h1, C630029K18Rik, Suv4-20h1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9199 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 3817421-3868303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3865525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 863 (D863G)
Ref Sequence ENSEMBL: ENSMUSP00000109605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113972] [ENSMUST00000113973] [ENSMUST00000113974] [ENSMUST00000113977] [ENSMUST00000176262]
AlphaFold Q3U8K7
Predicted Effect probably damaging
Transcript: ENSMUST00000113972
AA Change: D863G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: D863G

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 damaging
Transcript: ENSMUST00000113973
AA Change: D863G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: D863G

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 damaging
Transcript: ENSMUST00000113974
AA Change: D840G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: D840G

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 damaging
Transcript: ENSMUST00000113977
AA Change: D840G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: D840G

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 damaging
Transcript: ENSMUST00000176262
AA Change: D840G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: D840G

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
Meta Mutation Damage Score 0.1428 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (51/51)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,654 (GRCm39) probably benign Het
Abca9 A T 11: 110,056,770 (GRCm39) C17S possibly damaging Het
Acan T G 7: 78,736,057 (GRCm39) F168V probably damaging Het
Acp7 A G 7: 28,316,591 (GRCm39) L128P probably benign Het
Agtpbp1 C A 13: 59,613,808 (GRCm39) M1044I probably benign Het
Arhgef3 A G 14: 27,122,244 (GRCm39) Q361R possibly damaging Het
Brdt A T 5: 107,498,029 (GRCm39) R235* probably null Het
Cacna1d A G 14: 29,764,893 (GRCm39) S2013P probably benign Het
Cacna2d4 T A 6: 119,244,787 (GRCm39) D274E probably benign Het
Ccdc24 T A 4: 117,728,313 (GRCm39) I144F probably null Het
Ceacam5 C G 7: 17,479,350 (GRCm39) L156V probably benign Het
Cenpn G A 8: 117,664,014 (GRCm39) probably null Het
Cfap69 A T 5: 5,668,952 (GRCm39) V385E possibly damaging Het
Cldnd1 A G 16: 58,553,070 (GRCm39) H177R probably damaging Het
Cr1l A T 1: 194,786,177 (GRCm39) V439D probably benign Het
Cul2 A G 18: 3,423,577 (GRCm39) N329S probably benign Het
Cyp2c66 A G 19: 39,130,800 (GRCm39) K138R probably benign Het
Ddx46 G A 13: 55,825,342 (GRCm39) E996K probably damaging Het
Dnah14 A G 1: 181,478,566 (GRCm39) K1444E possibly damaging Het
Evl G A 12: 108,647,814 (GRCm39) probably null Het
Flnc C T 6: 29,441,490 (GRCm39) T424I probably benign Het
Gadd45gip1 T A 8: 85,559,128 (GRCm39) V70E probably damaging Het
Garem2 A G 5: 30,319,471 (GRCm39) H311R probably damaging Het
Gm32742 G C 9: 51,060,607 (GRCm39) H899D possibly damaging Het
Gm5148 C T 3: 37,768,989 (GRCm39) C77Y probably benign Het
Gm5460 A G 14: 33,758,393 (GRCm39) D141G possibly damaging Het
Kcnj8 T C 6: 142,512,118 (GRCm39) N163S probably damaging Het
Klri1 A T 6: 129,674,264 (GRCm39) *249R probably null Het
Ltbp2 G T 12: 84,832,750 (GRCm39) T1538K probably benign Het
Or51ah3 G A 7: 103,210,143 (GRCm39) G153D probably damaging Het
Or5b120 A G 19: 13,480,436 (GRCm39) H243R probably damaging Het
Pheta2 A T 15: 82,227,877 (GRCm39) E132V probably damaging Het
Pramel16 A G 4: 143,675,656 (GRCm39) L390P probably damaging Het
Ptchd3 A G 11: 121,721,741 (GRCm39) I205V probably benign Het
Rab8b G A 9: 66,758,641 (GRCm39) A152V probably damaging Het
Rasef T C 4: 73,658,625 (GRCm39) D343G possibly damaging Het
Rcan2 G A 17: 44,264,423 (GRCm39) V28I probably benign Het
Sec1 G A 7: 45,328,009 (GRCm39) T346M probably benign Het
Sgk1 T A 10: 21,758,558 (GRCm39) N7K probably damaging Het
Slc39a12 A T 2: 14,394,321 (GRCm39) I64F possibly damaging Het
Spock3 A G 8: 63,798,764 (GRCm39) T259A probably damaging Het
Sypl1 A T 12: 33,016,463 (GRCm39) probably benign Het
Teddm2 G T 1: 153,726,767 (GRCm39) Q36K probably damaging Het
Tlr1 A G 5: 65,083,534 (GRCm39) S348P possibly damaging Het
Ttll12 A G 15: 83,466,559 (GRCm39) F336S probably damaging Het
Ttll8 G A 15: 88,798,818 (GRCm39) P639L probably benign Het
Usp24 T C 4: 106,244,681 (GRCm39) V1212A probably damaging Het
Vcan C A 13: 89,838,615 (GRCm39) G2310* probably null Het
Vmn2r104 A T 17: 20,262,097 (GRCm39) N344K probably damaging Het
Zfp281 A G 1: 136,553,643 (GRCm39) N207S probably benign Het
Zfp534 T A 4: 147,760,439 (GRCm39) M77L probably benign Het
Zfp819 G A 7: 43,267,203 (GRCm39) S562N probably benign Het
Zmym1 C T 4: 126,944,623 (GRCm39) C188Y possibly damaging Het
Other mutations in Kmt5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Kmt5b APN 19 3,836,618 (GRCm39) missense possibly damaging 0.86
IGL02005:Kmt5b APN 19 3,836,538 (GRCm39) missense possibly damaging 0.50
IGL02058:Kmt5b APN 19 3,843,181 (GRCm39) missense probably damaging 1.00
IGL02069:Kmt5b APN 19 3,857,335 (GRCm39) missense probably damaging 1.00
IGL02395:Kmt5b APN 19 3,864,887 (GRCm39) missense probably benign 0.01
IGL02701:Kmt5b APN 19 3,846,681 (GRCm39) missense probably benign 0.08
loony UTSW 19 3,854,501 (GRCm39) missense possibly damaging 0.79
Tunes UTSW 19 3,852,799 (GRCm39) nonsense probably null
P0047:Kmt5b UTSW 19 3,843,223 (GRCm39) splice site probably benign
R0127:Kmt5b UTSW 19 3,836,465 (GRCm39) start codon destroyed probably null 0.99
R1574:Kmt5b UTSW 19 3,836,633 (GRCm39) splice site probably null
R1574:Kmt5b UTSW 19 3,836,633 (GRCm39) splice site probably null
R1797:Kmt5b UTSW 19 3,864,833 (GRCm39) missense probably benign 0.03
R2178:Kmt5b UTSW 19 3,865,372 (GRCm39) missense possibly damaging 0.68
R2418:Kmt5b UTSW 19 3,857,266 (GRCm39) missense probably benign 0.00
R4290:Kmt5b UTSW 19 3,852,193 (GRCm39) missense possibly damaging 0.51
R4789:Kmt5b UTSW 19 3,865,330 (GRCm39) missense probably benign 0.00
R4939:Kmt5b UTSW 19 3,865,245 (GRCm39) missense possibly damaging 0.88
R5133:Kmt5b UTSW 19 3,852,240 (GRCm39) missense probably damaging 1.00
R5392:Kmt5b UTSW 19 3,852,127 (GRCm39) missense possibly damaging 0.84
R5568:Kmt5b UTSW 19 3,836,538 (GRCm39) missense probably benign 0.00
R6029:Kmt5b UTSW 19 3,852,104 (GRCm39) missense probably damaging 0.99
R6184:Kmt5b UTSW 19 3,854,499 (GRCm39) missense probably damaging 1.00
R6649:Kmt5b UTSW 19 3,857,295 (GRCm39) missense probably damaging 0.96
R7043:Kmt5b UTSW 19 3,865,220 (GRCm39) missense possibly damaging 0.47
R7131:Kmt5b UTSW 19 3,865,412 (GRCm39) missense probably benign 0.00
R7203:Kmt5b UTSW 19 3,864,147 (GRCm39) missense probably damaging 1.00
R7287:Kmt5b UTSW 19 3,854,501 (GRCm39) missense possibly damaging 0.79
R7468:Kmt5b UTSW 19 3,852,799 (GRCm39) nonsense probably null
R7850:Kmt5b UTSW 19 3,865,043 (GRCm39) missense probably damaging 1.00
R8103:Kmt5b UTSW 19 3,865,381 (GRCm39) missense probably benign 0.00
R8334:Kmt5b UTSW 19 3,864,795 (GRCm39) missense probably benign 0.00
R8336:Kmt5b UTSW 19 3,865,531 (GRCm39) missense probably damaging 1.00
R9192:Kmt5b UTSW 19 3,854,442 (GRCm39) missense probably damaging 0.98
R9683:Kmt5b UTSW 19 3,865,587 (GRCm39) makesense probably null
Z1176:Kmt5b UTSW 19 3,843,118 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGCCAAGCTCAGTAACGG -3'
(R):5'- AGGATGCTGTACACTTTCTACAG -3'

Sequencing Primer
(F):5'- CCAAGCTCAGTAACGGGGTCAG -3'
(R):5'- GTATTATGCCTACAGGTGAAGAGACC -3'
Posted On 2022-02-07