Incidental Mutation 'R4789:Kmt5b'
ID 367365
Institutional Source Beutler Lab
Gene Symbol Kmt5b
Ensembl Gene ENSMUSG00000045098
Gene Name lysine methyltransferase 5B
Synonyms Suv420h1, C630029K18Rik, Suv4-20h1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4789 (G1)
Quality Score 217
Status Not validated
Chromosome 19
Chromosomal Location 3817421-3868303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3865330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 775 (V775A)
Ref Sequence ENSEMBL: ENSMUSP00000135563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113972] [ENSMUST00000113973] [ENSMUST00000113974] [ENSMUST00000113977] [ENSMUST00000176262]
AlphaFold Q3U8K7
Predicted Effect probably benign
Transcript: ENSMUST00000113972
AA Change: V798A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: V798A

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: V798A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: V798A

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: V775A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: V775A

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: V775A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: V775A

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 noncoding transcript
Transcript: ENSMUST00000118575
Predicted Effect probably benign
Transcript: ENSMUST00000176262
AA Change: V775A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: V775A

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik C A 7: 115,692,757 (GRCm39) D20E probably benign Het
Abcb9 T A 5: 124,216,853 (GRCm39) M455L probably benign Het
Add2 G A 6: 86,095,752 (GRCm39) V475M probably benign Het
Apoh T A 11: 108,300,064 (GRCm39) Y238N probably damaging Het
Arpp21 A G 9: 111,896,360 (GRCm39) S681P probably benign Het
Atp1a3 A C 7: 24,698,389 (GRCm39) F149C probably damaging Het
B9d1 A G 11: 61,397,186 (GRCm39) D27G probably benign Het
Bfar T A 16: 13,503,001 (GRCm39) M1K probably null Het
Bok T C 1: 93,616,963 (GRCm39) V103A probably damaging Het
Brca1 A C 11: 101,414,758 (GRCm39) H1125Q probably benign Het
Card9 T A 2: 26,247,632 (GRCm39) M218L probably damaging Het
Cers1 T C 8: 70,776,018 (GRCm39) V303A probably damaging Het
Col6a5 T C 9: 105,814,534 (GRCm39) I493V unknown Het
Coro7 T C 16: 4,446,085 (GRCm39) Y880C probably damaging Het
Cyp2b19 T C 7: 26,463,801 (GRCm39) Y318H probably benign Het
Dennd3 T A 15: 73,394,131 (GRCm39) L52Q probably damaging Het
Dlat A T 9: 50,570,670 (GRCm39) C33S probably benign Het
Dmxl2 T A 9: 54,287,099 (GRCm39) Q2646L probably benign Het
Dnah3 T C 7: 119,610,295 (GRCm39) N1703D probably damaging Het
Dock10 T A 1: 80,518,998 (GRCm39) H1241L probably damaging Het
Fbxl17 T G 17: 63,794,910 (GRCm39) I391L probably benign Het
Fdxacb1 A G 9: 50,681,418 (GRCm39) D113G possibly damaging Het
Flii A G 11: 60,605,919 (GRCm39) S1185P probably benign Het
Gm14496 A T 2: 181,637,577 (GRCm39) Q217L possibly damaging Het
Heatr9 A T 11: 83,410,018 (GRCm39) D74E probably benign Het
Heca C A 10: 17,783,895 (GRCm39) E91* probably null Het
Ikzf4 T G 10: 128,468,575 (GRCm39) T635P probably benign Het
Kif17 C T 4: 138,008,688 (GRCm39) P382S probably damaging Het
Mapk8ip2 T A 15: 89,343,241 (GRCm39) F661Y probably damaging Het
Mapkap1 A G 2: 34,423,859 (GRCm39) E111G possibly damaging Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Mid2 T A X: 139,578,981 (GRCm39) Y61N probably damaging Het
Mief1 T A 15: 80,132,080 (GRCm39) Y50* probably null Het
Mios T C 6: 8,235,429 (GRCm39) M859T probably benign Het
Muc5ac G T 7: 141,352,619 (GRCm39) C702F possibly damaging Het
Nkiras1 T C 14: 18,276,935 (GRCm38) probably benign Het
Or11i1 A C 3: 106,729,608 (GRCm39) I89R possibly damaging Het
Or11i1 T A 3: 106,729,624 (GRCm39) M84L possibly damaging Het
Or56a3b T G 7: 104,771,520 (GRCm39) H285Q probably null Het
Or5ae2 T A 7: 84,506,509 (GRCm39) C311S probably benign Het
Pcsk5 C T 19: 17,410,963 (GRCm39) V1810M probably benign Het
Pex1 T C 5: 3,680,270 (GRCm39) V964A probably damaging Het
Pgm2l1 A T 7: 99,916,794 (GRCm39) M471L probably benign Het
Pkd1l2 T C 8: 117,738,314 (GRCm39) T2182A probably damaging Het
Plscr1l1 G A 9: 92,233,084 (GRCm39) C69Y probably damaging Het
Polr1b T A 2: 128,951,257 (GRCm39) I290K probably benign Het
Prkg1 T A 19: 31,563,045 (GRCm39) M119L probably damaging Het
Rbl1 A G 2: 157,019,275 (GRCm39) V490A probably benign Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Slc10a6 T A 5: 103,776,848 (GRCm39) Y84F probably benign Het
Slc25a23 T C 17: 57,366,597 (GRCm39) D26G probably damaging Het
Slc41a2 T C 10: 83,152,320 (GRCm39) K52E probably damaging Het
Slc4a5 T C 6: 83,247,951 (GRCm39) F501L probably benign Het
Slfn5 T A 11: 82,847,226 (GRCm39) M37K probably benign Het
Sptbn1 A C 11: 30,067,759 (GRCm39) F1818L probably benign Het
Taf3 T C 2: 9,956,770 (GRCm39) T466A probably damaging Het
Thbs2 C T 17: 14,891,750 (GRCm39) G929D probably damaging Het
Tmc3 A T 7: 83,271,746 (GRCm39) D995V probably damaging Het
Tmem262 T C 19: 6,130,452 (GRCm39) F59L possibly damaging Het
Triobp A G 15: 78,875,228 (GRCm39) D137G probably damaging Het
Tspear T C 10: 77,702,199 (GRCm39) F211L possibly damaging Het
Ttn A T 2: 76,728,670 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,550 (GRCm39) M206L probably benign Het
Ush1g A T 11: 115,209,466 (GRCm39) S243T probably damaging Het
Usp19 A T 9: 108,370,433 (GRCm39) T86S possibly damaging Het
Wdhd1 A G 14: 47,506,149 (GRCm39) V255A probably benign Het
Wdr11 G A 7: 129,220,394 (GRCm39) W594* probably null Het
Wnk3 T A X: 149,993,933 (GRCm39) Y331* probably null Het
Zfp429 A T 13: 67,538,523 (GRCm39) I307K probably benign Het
Zkscan14 T A 5: 145,132,444 (GRCm39) K362N probably 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
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
R9199:Kmt5b UTSW 19 3,865,525 (GRCm39) missense probably damaging 1.00
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'- ACAGCTCTGGAATCCCCAAG -3'
(R):5'- ATTAGCCTCAGCCGCTTTG -3'

Sequencing Primer
(F):5'- GGCGTGAACTCCTCCAAGATC -3'
(R):5'- CAGCCGCTTTGCCGGAG -3'
Posted On 2015-12-29