Incidental Mutation 'R6092:Serpinb3d'
ID 485958
Institutional Source Beutler Lab
Gene Symbol Serpinb3d
Ensembl Gene ENSMUSG00000058017
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D
Synonyms
MMRRC Submission 044249-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6092 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 107005893-107011210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107006989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 240 (M240V)
Ref Sequence ENSEMBL: ENSMUSP00000023861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023861]
AlphaFold Q6UKZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000023861
AA Change: M240V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023861
Gene: ENSMUSG00000058017
AA Change: M240V

DomainStartEndE-ValueType
SERPIN 13 387 2.44e-169 SMART
Meta Mutation Damage Score 0.4360 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,701 (GRCm39) P1297S probably benign Het
4930486L24Rik C T 13: 61,001,461 (GRCm39) V89M probably benign Het
Abhd16a T C 17: 35,317,786 (GRCm39) probably null Het
Abtb1 A C 6: 88,815,433 (GRCm39) C264G probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arid1a C T 4: 133,421,163 (GRCm39) G881R unknown Het
Asb8 A G 15: 98,034,123 (GRCm39) V144A possibly damaging Het
Atm A C 9: 53,435,714 (GRCm39) C199G probably damaging Het
Atxn1 C A 13: 45,720,288 (GRCm39) V536L probably benign Het
Baz1a C T 12: 54,955,868 (GRCm39) V1074M possibly damaging Het
BC034090 T A 1: 155,100,659 (GRCm39) D535V probably damaging Het
Casp8ap2 C A 4: 32,639,380 (GRCm39) H145N probably damaging Het
Ccdc24 T A 4: 117,729,645 (GRCm39) K25* probably null Het
Ccdc91 A G 6: 147,437,114 (GRCm39) N100S possibly damaging Het
Cdh20 A T 1: 110,026,036 (GRCm39) Y424F probably benign Het
Clasp1 T C 1: 118,438,028 (GRCm39) S612P probably damaging Het
Cxcl14 T C 13: 56,443,646 (GRCm39) M55V possibly damaging Het
Dnah11 T C 12: 117,892,191 (GRCm39) T3661A probably benign Het
Dnah14 T A 1: 181,449,398 (GRCm39) D574E probably benign Het
Dnah6 C T 6: 73,091,680 (GRCm39) V2204M possibly damaging Het
Ercc4 A T 16: 12,943,125 (GRCm39) H178L probably benign Het
Far2 T C 6: 148,076,581 (GRCm39) F475L probably benign Het
Ggt7 A G 2: 155,359,959 (GRCm39) probably null Het
Gm4131 T A 14: 62,718,364 (GRCm39) T81S possibly damaging Het
Gprc6a A G 10: 51,491,173 (GRCm39) S788P probably damaging Het
Hmgxb3 C A 18: 61,270,672 (GRCm39) G884V possibly damaging Het
Homer1 T A 13: 93,502,945 (GRCm39) probably benign Het
Iars1 T C 13: 49,861,897 (GRCm39) S483P probably damaging Het
Kansl1l C G 1: 66,812,643 (GRCm39) E457Q probably damaging Het
Krtap4-9 G A 11: 99,676,481 (GRCm39) probably benign Het
Lepr C A 4: 101,649,220 (GRCm39) P874T probably damaging Het
Mad2l2 T A 4: 148,228,067 (GRCm39) F100L probably damaging Het
Mavs A T 2: 131,087,518 (GRCm39) R339* probably null Het
Mettl1 G A 10: 126,877,843 (GRCm39) probably benign Het
Mfsd8 A G 3: 40,774,031 (GRCm39) V493A possibly damaging Het
Mtmr9 C T 14: 63,779,901 (GRCm39) V63M possibly damaging Het
Mto1 T C 9: 78,368,131 (GRCm39) I425T possibly damaging Het
Or2av9 A T 11: 58,380,900 (GRCm39) M227K probably damaging Het
Or5g29 A G 2: 85,420,950 (GRCm39) Y22C probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pclo C T 5: 14,727,937 (GRCm39) probably benign Het
Phf2 T C 13: 48,969,533 (GRCm39) D608G unknown Het
Plch2 T C 4: 155,068,829 (GRCm39) T1266A probably benign Het
Prdm12 A G 2: 31,533,889 (GRCm39) N169D probably damaging Het
Rimbp3 A G 16: 17,030,134 (GRCm39) Y1186C probably damaging Het
Slc25a38 C T 9: 119,945,658 (GRCm39) R74C probably damaging Het
Slc25a39 A T 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc26a8 T C 17: 28,867,129 (GRCm39) N564S probably damaging Het
Spag4 G A 2: 155,907,696 (GRCm39) probably benign Het
Stx1b A G 7: 127,407,035 (GRCm39) M74T possibly damaging Het
Tbc1d1 A G 5: 64,507,242 (GRCm39) D1153G probably benign Het
Tert T C 13: 73,776,700 (GRCm39) F484L probably benign Het
Tet1 A G 10: 62,649,494 (GRCm39) V72A probably benign Het
Tnfrsf13c T C 15: 82,107,355 (GRCm39) T147A probably damaging Het
Trpa1 A T 1: 14,959,710 (GRCm39) Y659N probably damaging Het
Trpm2 A G 10: 77,761,516 (GRCm39) F1045L probably benign Het
Ttc13 T C 8: 125,405,772 (GRCm39) H529R probably benign Het
Ttn T C 2: 76,545,614 (GRCm39) T32570A probably damaging Het
Uba7 A G 9: 107,860,359 (GRCm39) T892A possibly damaging Het
Uty A T Y: 1,174,836 (GRCm39) M195K probably benign Het
Zfp109 A G 7: 23,928,978 (GRCm39) S152P possibly damaging Het
Zfp532 T C 18: 65,777,281 (GRCm39) V846A probably damaging Het
Zfp658 A T 7: 43,223,951 (GRCm39) H742L possibly damaging Het
Zfp831 C A 2: 174,547,299 (GRCm39) P1494Q probably damaging Het
Other mutations in Serpinb3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01582:Serpinb3d APN 1 107,007,396 (GRCm39) missense probably damaging 1.00
IGL01917:Serpinb3d APN 1 107,007,411 (GRCm39) missense probably damaging 1.00
IGL02732:Serpinb3d APN 1 107,010,526 (GRCm39) critical splice acceptor site probably null
IGL02988:Serpinb3d UTSW 1 107,006,266 (GRCm39) missense probably benign
R0540:Serpinb3d UTSW 1 107,006,962 (GRCm39) missense probably benign 0.01
R0594:Serpinb3d UTSW 1 107,007,077 (GRCm39) missense probably damaging 1.00
R1666:Serpinb3d UTSW 1 107,008,481 (GRCm39) missense probably benign 0.18
R1668:Serpinb3d UTSW 1 107,008,481 (GRCm39) missense probably benign 0.18
R1905:Serpinb3d UTSW 1 107,007,014 (GRCm39) missense possibly damaging 0.71
R1994:Serpinb3d UTSW 1 107,008,518 (GRCm39) missense possibly damaging 0.52
R2021:Serpinb3d UTSW 1 107,006,182 (GRCm39) missense probably benign 0.05
R2022:Serpinb3d UTSW 1 107,006,182 (GRCm39) missense probably benign 0.05
R3760:Serpinb3d UTSW 1 107,009,304 (GRCm39) splice site probably benign
R4118:Serpinb3d UTSW 1 107,006,960 (GRCm39) missense possibly damaging 0.58
R4496:Serpinb3d UTSW 1 107,007,022 (GRCm39) missense probably damaging 0.98
R4770:Serpinb3d UTSW 1 107,006,008 (GRCm39) missense probably damaging 1.00
R4793:Serpinb3d UTSW 1 107,005,951 (GRCm39) missense probably damaging 1.00
R5174:Serpinb3d UTSW 1 107,006,228 (GRCm39) missense possibly damaging 0.63
R5434:Serpinb3d UTSW 1 107,006,263 (GRCm39) missense probably benign 0.02
R5813:Serpinb3d UTSW 1 107,007,027 (GRCm39) missense probably benign 0.14
R5820:Serpinb3d UTSW 1 107,006,089 (GRCm39) missense probably damaging 0.99
R5935:Serpinb3d UTSW 1 107,011,105 (GRCm39) missense probably benign 0.00
R6056:Serpinb3d UTSW 1 107,007,452 (GRCm39) missense probably damaging 1.00
R6188:Serpinb3d UTSW 1 107,006,237 (GRCm39) missense probably damaging 0.98
R6247:Serpinb3d UTSW 1 107,010,490 (GRCm39) missense probably benign 0.01
R6369:Serpinb3d UTSW 1 107,008,483 (GRCm39) missense probably benign 0.00
R6476:Serpinb3d UTSW 1 107,011,071 (GRCm39) missense probably benign 0.09
R7178:Serpinb3d UTSW 1 107,008,506 (GRCm39) missense possibly damaging 0.72
R7743:Serpinb3d UTSW 1 107,007,088 (GRCm39) missense probably damaging 0.99
R7765:Serpinb3d UTSW 1 107,007,512 (GRCm39) missense probably damaging 1.00
R8371:Serpinb3d UTSW 1 107,008,469 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTGCAGTGTGATTCAG -3'
(R):5'- GCCTCTGTACAATATTATCTGTCGC -3'

Sequencing Primer
(F):5'- CCTGCAGTGTGATTCAGGATGTG -3'
(R):5'- ACAATATTATCTGTCGCTTCCTGTG -3'
Posted On 2017-08-16