Incidental Mutation 'R7972:Sirt7'
ID 650673
Institutional Source Beutler Lab
Gene Symbol Sirt7
Ensembl Gene ENSMUSG00000025138
Gene Name sirtuin 7
Synonyms
MMRRC Submission 046015-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R7972 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120509197-120515840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120510016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 183 (S183P)
Ref Sequence ENSEMBL: ENSMUSP00000120405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026129] [ENSMUST00000080202] [ENSMUST00000106183] [ENSMUST00000106188] [ENSMUST00000146809]
AlphaFold Q8BKJ9
Predicted Effect probably benign
Transcript: ENSMUST00000026129
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137

DomainStartEndE-ValueType
Pfam:CTP_transf_like 26 152 2.6e-32 PFAM
Pfam:CTP_transf_like 235 384 8.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080202
SMART Domains Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138

DomainStartEndE-ValueType
coiled coil region 24 48 N/A INTRINSIC
low complexity region 65 78 N/A INTRINSIC
Pfam:SIR2 134 276 1.1e-22 PFAM
low complexity region 393 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106183
SMART Domains Protein: ENSMUSP00000101789
Gene: ENSMUSG00000025138

DomainStartEndE-ValueType
coiled coil region 24 48 N/A INTRINSIC
low complexity region 65 78 N/A INTRINSIC
SCOP:d1icia_ 92 113 7e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106188
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137

DomainStartEndE-ValueType
Pfam:CTP_transf_2 26 152 9.8e-25 PFAM
Pfam:CTP_transf_2 217 332 2e-12 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000146809
AA Change: S183P
SMART Domains Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138
AA Change: S183P

DomainStartEndE-ValueType
Pfam:SIR2 1 89 1.6e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature aging and death associated with inflammatory, degenerative cardiac hypertrophy and cardiac fibrosis. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Targeted, other(1)
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T A 17: 35,320,287 (GRCm39) V384E probably damaging Het
Acacb C T 5: 114,364,918 (GRCm39) R1533* probably null Het
Alox12 T A 11: 70,133,513 (GRCm39) M604L probably benign Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Brdt A T 5: 107,496,415 (GRCm39) I176F possibly damaging Het
Cdk5 G T 5: 24,624,656 (GRCm39) T245K probably benign Het
Chd9 A T 8: 91,732,395 (GRCm39) R1304S unknown Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Cyp2j11 T A 4: 96,185,871 (GRCm39) E438V probably damaging Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dnah10 T C 5: 124,803,949 (GRCm39) V92A probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Fam184a A T 10: 53,514,355 (GRCm39) L1022Q probably damaging Het
Foxd4 T C 19: 24,877,594 (GRCm39) H202R probably damaging Het
Fry T C 5: 150,233,861 (GRCm39) V16A probably benign Het
Gstcd A T 3: 132,777,894 (GRCm39) F306I probably benign Het
H2bc13 A G 13: 21,899,977 (GRCm39) S113P possibly damaging Het
Hivep3 T C 4: 119,954,711 (GRCm39) V1009A possibly damaging Het
Hoxd12 G T 2: 74,506,269 (GRCm39) R227L probably damaging Het
Ifi208 T A 1: 173,506,556 (GRCm39) M113K possibly damaging Het
Ift70a1 A T 2: 75,810,802 (GRCm39) M427K probably damaging Het
Kcnh4 T G 11: 100,643,278 (GRCm39) T330P probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lin28a G A 4: 133,733,574 (GRCm39) P158S probably damaging Het
Muc16 C A 9: 18,557,060 (GRCm39) E3078* probably null Het
Naaladl1 A G 19: 6,156,274 (GRCm39) N120S probably damaging Het
Nol10 G A 12: 17,402,648 (GRCm39) R40H probably benign Het
Ntng1 G A 3: 110,042,802 (GRCm39) S8L probably benign Het
Or4a71 T G 2: 89,357,948 (GRCm39) I269L probably benign Het
Or4c107 T A 2: 88,789,177 (GRCm39) Y122* probably null Het
Pacsin1 T A 17: 27,927,613 (GRCm39) F319I unknown Het
Pla2g4d G A 2: 120,109,413 (GRCm39) T212I probably benign Het
Ppp4r1 T A 17: 66,140,093 (GRCm39) C664S possibly damaging Het
Prodh2 T C 7: 30,210,580 (GRCm39) I377T probably damaging Het
Prss57 A T 10: 79,619,230 (GRCm39) L243H probably benign Het
Pxdn C T 12: 30,056,601 (GRCm39) L1271F probably damaging Het
Ros1 G A 10: 52,030,926 (GRCm39) R581* probably null Het
Rps6kc1 C T 1: 190,531,321 (GRCm39) G894S probably benign Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Styxl2 T A 1: 165,926,708 (GRCm39) E968V probably damaging Het
Tbc1d8 A G 1: 39,431,250 (GRCm39) F374S probably damaging Het
Tdrd1 T A 19: 56,837,134 (GRCm39) D489E probably damaging Het
Tiprl T A 1: 165,064,543 (GRCm39) probably benign Het
Tpt1 T C 14: 76,085,539 (GRCm39) *173Q probably null Het
Trim17 A G 11: 58,859,394 (GRCm39) I203V probably benign Het
Trim43b T A 9: 88,973,361 (GRCm39) H124L probably damaging Het
Triobp T C 15: 78,852,186 (GRCm39) I780T probably damaging Het
Tyrobp G A 7: 30,114,063 (GRCm39) G101R Het
Vmn1r181 A T 7: 23,683,871 (GRCm39) H112L probably benign Het
Wdr19 A G 5: 65,381,193 (GRCm39) N406D probably damaging Het
Zc3h12a T C 4: 125,013,728 (GRCm39) K379E probably benign Het
Zcwpw1 T C 5: 137,799,323 (GRCm39) I230T probably benign Het
Zfhx4 A G 3: 5,477,533 (GRCm39) T3383A probably benign Het
Other mutations in Sirt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Sirt7 APN 11 120,509,735 (GRCm39) missense probably benign 0.04
IGL02253:Sirt7 APN 11 120,511,693 (GRCm39) missense probably benign 0.00
IGL02928:Sirt7 APN 11 120,511,042 (GRCm39) missense probably benign 0.03
1mM(1):Sirt7 UTSW 11 120,512,970 (GRCm39) missense probably benign 0.00
R0634:Sirt7 UTSW 11 120,512,955 (GRCm39) unclassified probably benign
R1677:Sirt7 UTSW 11 120,515,365 (GRCm39) missense possibly damaging 0.92
R2279:Sirt7 UTSW 11 120,515,321 (GRCm39) missense probably damaging 1.00
R5260:Sirt7 UTSW 11 120,511,347 (GRCm39) intron probably benign
R5712:Sirt7 UTSW 11 120,511,677 (GRCm39) nonsense probably null
R7186:Sirt7 UTSW 11 120,511,311 (GRCm39) missense probably benign
R7194:Sirt7 UTSW 11 120,509,799 (GRCm39) missense probably benign 0.00
R7462:Sirt7 UTSW 11 120,511,618 (GRCm39) missense probably benign 0.01
R7491:Sirt7 UTSW 11 120,509,837 (GRCm39) missense probably benign 0.00
R8773:Sirt7 UTSW 11 120,514,888 (GRCm39) nonsense probably null
R9680:Sirt7 UTSW 11 120,511,296 (GRCm39) missense
Z1177:Sirt7 UTSW 11 120,509,872 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGACTTCCTACTGTGGCTGC -3'
(R):5'- CCTATCCATACAAGTGAGAGACG -3'

Sequencing Primer
(F):5'- TTCTTCACCAGCACGGAGG -3'
(R):5'- GGGGCCCAGAGTTGCTAG -3'
Posted On 2020-09-15