Incidental Mutation 'IGL02005:Kmt5b'
ID183152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kmt5b
Ensembl Gene ENSMUSG00000045098
Gene Namelysine methyltransferase 5B
SynonymsC630029K18Rik, Suv420h1, Suv4-20h1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02005
Quality Score
Status
Chromosome19
Chromosomal Location3767421-3818303 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3786538 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 25 (H25R)
Ref Sequence ENSEMBL: ENSMUSP00000135756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005518] [ENSMUST00000052699] [ENSMUST00000113968] [ENSMUST00000113970] [ENSMUST00000113972] [ENSMUST00000113973] [ENSMUST00000113974] [ENSMUST00000113977] [ENSMUST00000152935] [ENSMUST00000176262] [ENSMUST00000176407] [ENSMUST00000176926] [ENSMUST00000177355] [ENSMUST00000176512]
Predicted Effect probably benign
Transcript: ENSMUST00000005518
AA Change: H25R

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000005518
Gene: ENSMUSG00000045098
AA Change: H25R

DomainStartEndE-ValueType
Blast:SET 58 126 4e-37 BLAST
SET 199 315 3.46e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052699
AA Change: H25R

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000060162
Gene: ENSMUSG00000045098
AA Change: H25R

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 benign
Transcript: ENSMUST00000113968
AA Change: H25R

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109601
Gene: ENSMUSG00000045098
AA Change: H25R

DomainStartEndE-ValueType
Blast:SET 58 126 4e-37 BLAST
SET 199 315 3.46e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113970
AA Change: H25R

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109603
Gene: ENSMUSG00000045098
AA Change: H25R

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 benign
Transcript: ENSMUST00000113972
AA Change: H25R

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: H25R

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 benign
Transcript: ENSMUST00000113973
AA Change: H25R

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: H25R

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 benign
Transcript: ENSMUST00000113974
AA Change: H25R

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: H25R

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: ENSMUST00000113977
AA Change: H25R

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: H25R

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 benign
Transcript: ENSMUST00000176262
AA Change: H25R

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: H25R

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: ENSMUST00000176407
AA Change: H25R

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134897
Gene: ENSMUSG00000045098
AA Change: H25R

DomainStartEndE-ValueType
Blast:SET 58 87 5e-12 BLAST
PDB:3S8P|B 64 87 4e-9 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000176926
AA Change: H25R

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135756
Gene: ENSMUSG00000045098
AA Change: H25R

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 benign
Transcript: ENSMUST00000177355
AA Change: H25R

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000135590
Gene: ENSMUSG00000045098
AA Change: H25R

DomainStartEndE-ValueType
Blast:SET 58 111 2e-30 BLAST
PDB:3S8P|B 64 111 2e-27 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000176512
AA Change: H25R

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135004
Gene: ENSMUSG00000045098
AA Change: H25R

DomainStartEndE-ValueType
Blast:SET 58 93 6e-17 BLAST
PDB:3S8P|B 64 93 6e-14 PDB
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 90,058,620 D141G probably damaging Het
Ankhd1 T G 18: 36,648,426 L2177R probably damaging Het
Arhgap23 A T 11: 97,491,219 D1136V probably damaging Het
Atp6v1b1 A G 6: 83,753,914 probably benign Het
Atxn1 T C 13: 45,568,225 T65A probably benign Het
Bbs4 A G 9: 59,336,355 probably benign Het
Bms1 G A 6: 118,404,585 T664M probably damaging Het
Bod1l T C 5: 41,816,339 D2544G probably benign Het
Cdhr2 C T 13: 54,719,763 H469Y probably benign Het
Cep57l1 T C 10: 41,740,961 D110G probably benign Het
Chd4 G A 6: 125,128,816 E1786K possibly damaging Het
Cltc T C 11: 86,730,219 K321E possibly damaging Het
Col6a2 T C 10: 76,610,173 D383G probably damaging Het
Crcp T G 5: 130,042,233 C58G probably benign Het
Ctc1 A G 11: 69,031,149 Y807C probably damaging Het
Eml4 T A 17: 83,477,703 probably benign Het
Glce A T 9: 62,060,577 L431I probably damaging Het
Glp1r C A 17: 30,924,611 T207K probably benign Het
Gm28042 G A 2: 120,034,634 V247I possibly damaging Het
Gm8989 G T 7: 106,329,420 F423L unknown Het
Hcrtr1 T A 4: 130,137,263 H76L probably benign Het
Hoxb13 G A 11: 96,194,609 G56D probably damaging Het
Hykk A G 9: 54,920,558 E27G possibly damaging Het
Kars A T 8: 112,000,104 L321* probably null Het
Klhl12 A T 1: 134,463,914 T95S possibly damaging Het
Klhl14 A T 18: 21,624,611 Y347* probably null Het
Krtap12-1 T A 10: 77,720,989 V122D probably damaging Het
Lrrc66 T C 5: 73,608,734 D322G possibly damaging Het
Lrrc8b T A 5: 105,481,054 V422D probably benign Het
Med12l T G 3: 59,244,947 M1051R probably damaging Het
Mmrn1 A G 6: 60,960,744 Y242C probably damaging Het
Ncf2 A T 1: 152,817,052 I107L possibly damaging Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pdlim4 T C 11: 54,059,984 D93G probably benign Het
Pgap1 C A 1: 54,551,055 A75S probably damaging Het
Pkd1 A G 17: 24,586,004 D3209G possibly damaging Het
Prcp T C 7: 92,927,824 S319P probably benign Het
Rasal2 G A 1: 157,156,998 Q1035* probably null Het
Ryr3 A T 2: 112,663,263 probably benign Het
Scaf8 T C 17: 3,185,870 I544T probably damaging Het
Svep1 A T 4: 58,069,056 V2910E possibly damaging Het
Tln2 C T 9: 67,392,505 R155Q possibly damaging Het
Trpm7 A T 2: 126,813,184 L1278H probably damaging Het
Tti2 G T 8: 31,155,830 G391C probably damaging Het
Ttn C T 2: 76,948,019 M1295I possibly damaging Het
Ttn T C 2: 76,723,969 probably benign Het
Vmn1r170 G A 7: 23,606,913 V247M probably damaging Het
Wdr48 T C 9: 119,905,389 Y125H probably damaging Het
Wdtc1 C T 4: 133,308,914 R105H probably benign Het
Zc3h11a A G 1: 133,622,142 S699P probably benign Het
Zkscan14 C T 5: 145,195,609 V371I probably benign Het
Zzef1 A T 11: 72,888,299 Y1862F probably benign Het
Other mutations in Kmt5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Kmt5b APN 19 3786618 missense possibly damaging 0.86
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
R0127:Kmt5b UTSW 19 3786465 start codon destroyed probably null 0.99
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
R7468:Kmt5b UTSW 19 3802799 nonsense probably null
R7850:Kmt5b UTSW 19 3815043 missense probably damaging 1.00
R8103:Kmt5b UTSW 19 3815381 missense probably benign 0.00
R8334:Kmt5b UTSW 19 3814795 missense probably benign 0.00
R8336:Kmt5b UTSW 19 3815531 missense probably damaging 1.00
Z1176:Kmt5b UTSW 19 3793118 nonsense probably null
Posted On2014-05-07