Incidental Mutation 'R2150:Senp1'
ID 234224
Institutional Source Beutler Lab
Gene Symbol Senp1
Ensembl Gene ENSMUSG00000033075
Gene Name SUMO1/sentrin specific peptidase 1
Synonyms D15Ertd528e, E330036L07Rik, 2310046A20Rik
MMRRC Submission 040153-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2150 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 97936625-97991625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97956196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 408 (V408I)
Ref Sequence ENSEMBL: ENSMUSP00000138056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044189] [ENSMUST00000180657] [ENSMUST00000180716]
AlphaFold P59110
Predicted Effect possibly damaging
Transcript: ENSMUST00000044189
AA Change: V382I

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: V382I

DomainStartEndE-ValueType
low complexity region 38 47 N/A INTRINSIC
low complexity region 183 192 N/A INTRINSIC
low complexity region 223 235 N/A INTRINSIC
low complexity region 246 261 N/A INTRINSIC
low complexity region 357 375 N/A INTRINSIC
Pfam:Peptidase_C48 460 638 1.3e-49 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000180657
AA Change: V408I

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: V408I

DomainStartEndE-ValueType
low complexity region 38 47 N/A INTRINSIC
low complexity region 183 192 N/A INTRINSIC
low complexity region 223 235 N/A INTRINSIC
low complexity region 246 261 N/A INTRINSIC
low complexity region 383 401 N/A INTRINSIC
Pfam:Peptidase_C48 486 664 2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180716
SMART Domains Protein: ENSMUSP00000138032
Gene: ENSMUSG00000033075

DomainStartEndE-ValueType
low complexity region 38 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181855
Meta Mutation Damage Score 0.0889 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous mutant mice die before birth. Depending on the allele mice may exhibit placental labyrinth defects and widespread cell death or severe anemia and a defect in definitive erythropoiesis in the fetal liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C T 8: 88,312,691 (GRCm39) Q159* probably null Het
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Adprm A G 11: 66,929,055 (GRCm39) V312A probably benign Het
Anapc2 T C 2: 25,162,682 (GRCm39) L52P probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Apoc4 T A 7: 19,412,560 (GRCm39) T62S probably damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap32 A G 9: 32,027,436 (GRCm39) E2G possibly damaging Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccdc63 C G 5: 122,265,628 (GRCm39) A71P possibly damaging Het
Cdca2 T C 14: 67,952,258 (GRCm39) K38E probably damaging Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dab2 T C 15: 6,446,398 (GRCm39) V5A probably benign Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Disp1 A G 1: 182,869,936 (GRCm39) F828S probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Dsel A T 1: 111,787,987 (GRCm39) N849K probably benign Het
Fah A T 7: 84,244,042 (GRCm39) I239N probably damaging Het
Flt4 T C 11: 49,536,824 (GRCm39) Y1265H probably benign Het
Ghdc T C 11: 100,660,018 (GRCm39) E243G probably benign Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gm6619 A G 6: 131,466,021 (GRCm39) I40V probably benign Het
Gpld1 T C 13: 25,146,630 (GRCm39) V225A probably benign Het
Hectd4 T C 5: 121,391,921 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,032,617 (GRCm39) I542V possibly damaging Het
Igsf9b T C 9: 27,245,633 (GRCm39) L1200P probably damaging Het
Itgb7 C T 15: 102,130,553 (GRCm39) V378M probably damaging Het
Krt84 T C 15: 101,438,019 (GRCm39) E312G possibly damaging Het
Man2a2 A G 7: 80,017,532 (GRCm39) W250R probably damaging Het
Mcam T C 9: 44,047,932 (GRCm39) V59A probably damaging Het
Mfrp T C 9: 44,015,015 (GRCm39) L314P probably benign Het
Mgat5 T C 1: 127,396,987 (GRCm39) V578A probably damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myh1 A C 11: 67,113,234 (GRCm39) D1873A probably benign Het
Nek9 A G 12: 85,376,677 (GRCm39) W235R probably damaging Het
Or9g19 T C 2: 85,600,342 (GRCm39) S66P probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pecr T C 1: 72,316,517 (GRCm39) R63G possibly damaging Het
Pkhd1l1 T G 15: 44,363,378 (GRCm39) probably null Het
Plekha5 T C 6: 140,516,129 (GRCm39) V270A probably damaging Het
Prr14l T C 5: 32,988,046 (GRCm39) D483G probably benign Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Stambpl1 T A 19: 34,204,104 (GRCm39) Y65N probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Themis T A 10: 28,544,723 (GRCm39) I23N probably damaging Het
Thnsl1 T C 2: 21,217,344 (GRCm39) I366T probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Vmn1r195 C G 13: 22,462,934 (GRCm39) L135V possibly damaging Het
Vmn2r-ps36 C T 7: 7,431,539 (GRCm39) noncoding transcript Het
Zfp956 G A 6: 47,940,805 (GRCm39) R388H probably damaging Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G probably benign Het
Other mutations in Senp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Senp1 APN 15 97,962,719 (GRCm39) missense probably damaging 1.00
IGL01431:Senp1 APN 15 97,980,144 (GRCm39) missense probably damaging 0.97
IGL02674:Senp1 APN 15 97,954,840 (GRCm39) missense probably damaging 0.99
IGL03289:Senp1 APN 15 97,982,926 (GRCm39) missense probably damaging 1.00
Calmate UTSW 15 97,964,379 (GRCm39) missense probably benign 0.00
mustard UTSW 15 97,946,152 (GRCm39) missense probably damaging 1.00
nitrogen UTSW 15 97,964,412 (GRCm39) missense possibly damaging 0.61
Sinapis UTSW 15 97,962,761 (GRCm39) splice site probably benign
PIT1430001:Senp1 UTSW 15 97,982,870 (GRCm39) missense probably damaging 1.00
R0026:Senp1 UTSW 15 97,974,549 (GRCm39) missense probably damaging 0.99
R0026:Senp1 UTSW 15 97,974,549 (GRCm39) missense probably damaging 0.99
R0125:Senp1 UTSW 15 97,946,112 (GRCm39) missense probably damaging 0.99
R0531:Senp1 UTSW 15 97,962,761 (GRCm39) splice site probably benign
R1389:Senp1 UTSW 15 97,973,734 (GRCm39) missense probably benign 0.03
R1396:Senp1 UTSW 15 97,974,435 (GRCm39) missense probably benign 0.01
R1786:Senp1 UTSW 15 97,973,848 (GRCm39) missense probably benign 0.00
R1999:Senp1 UTSW 15 97,956,196 (GRCm39) missense possibly damaging 0.61
R2045:Senp1 UTSW 15 97,957,825 (GRCm39) missense possibly damaging 0.57
R2130:Senp1 UTSW 15 97,973,848 (GRCm39) missense probably benign 0.00
R2132:Senp1 UTSW 15 97,973,848 (GRCm39) missense probably benign 0.00
R2133:Senp1 UTSW 15 97,973,848 (GRCm39) missense probably benign 0.00
R2327:Senp1 UTSW 15 97,980,165 (GRCm39) missense probably damaging 1.00
R3815:Senp1 UTSW 15 97,954,713 (GRCm39) missense probably damaging 1.00
R4719:Senp1 UTSW 15 97,954,731 (GRCm39) missense probably benign 0.42
R4766:Senp1 UTSW 15 97,943,777 (GRCm39) missense probably damaging 0.98
R4866:Senp1 UTSW 15 97,964,729 (GRCm39) missense possibly damaging 0.93
R5141:Senp1 UTSW 15 97,974,488 (GRCm39) missense probably benign 0.08
R5485:Senp1 UTSW 15 97,964,377 (GRCm39) missense probably benign 0.00
R5651:Senp1 UTSW 15 97,974,498 (GRCm39) missense probably benign
R5668:Senp1 UTSW 15 97,946,236 (GRCm39) missense probably damaging 1.00
R5729:Senp1 UTSW 15 97,964,412 (GRCm39) missense possibly damaging 0.61
R6041:Senp1 UTSW 15 97,956,097 (GRCm39) missense probably damaging 0.97
R6395:Senp1 UTSW 15 97,946,074 (GRCm39) missense probably damaging 1.00
R6521:Senp1 UTSW 15 97,946,152 (GRCm39) missense probably damaging 1.00
R7070:Senp1 UTSW 15 97,980,187 (GRCm39) missense possibly damaging 0.66
R7075:Senp1 UTSW 15 97,956,207 (GRCm39) missense probably benign 0.00
R7262:Senp1 UTSW 15 97,964,379 (GRCm39) missense probably benign 0.00
R7625:Senp1 UTSW 15 97,964,679 (GRCm39) missense probably benign 0.10
R8318:Senp1 UTSW 15 97,962,748 (GRCm39) missense probably damaging 1.00
R8368:Senp1 UTSW 15 97,943,255 (GRCm39) missense probably damaging 1.00
R8946:Senp1 UTSW 15 97,940,782 (GRCm39) missense probably damaging 0.96
R9373:Senp1 UTSW 15 97,964,435 (GRCm39) missense probably benign 0.00
R9650:Senp1 UTSW 15 97,946,248 (GRCm39) missense probably damaging 1.00
R9756:Senp1 UTSW 15 97,957,806 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- ACATTTGAAACTTCCCTCAGCTAAC -3'
(R):5'- GTTACCTCTACCTGAGTTACGC -3'

Sequencing Primer
(F):5'- TAGCTCTGACTGGTCTGGAACAC -3'
(R):5'- ACCTGAGTTACGCTGTTTGC -3'
Posted On 2014-10-01