Incidental Mutation 'IGL02988:Serpinb3d'
ID 453461
Institutional Source Beutler Lab
Gene Symbol Serpinb3d
Ensembl Gene ENSMUSG00000058017
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02988 (G1)
Quality Score 222
Status Validated
Chromosome 1
Chromosomal Location 107005893-107011210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107006266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 274 (M274K)
Ref Sequence ENSEMBL: ENSMUSP00000023861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023861]
AlphaFold Q6UKZ0
Predicted Effect probably benign
Transcript: ENSMUST00000023861
AA Change: M274K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023861
Gene: ENSMUSG00000058017
AA Change: M274K

DomainStartEndE-ValueType
SERPIN 13 387 2.44e-169 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Aadacl4fm5 T A 4: 144,513,100 (GRCm39) probably benign Het
Adgrd1 G A 5: 129,221,074 (GRCm39) A488T probably benign Het
Ano3 T C 2: 110,605,355 (GRCm39) S284G probably damaging Het
Aox1 G T 1: 58,376,509 (GRCm39) V897L probably benign Het
Arl6 T A 16: 59,434,209 (GRCm39) probably null Het
Blnk G A 19: 40,917,660 (GRCm39) T441M probably damaging Het
Casp8ap2 C T 4: 32,644,590 (GRCm39) T1221I probably benign Het
Cbll1 A T 12: 31,542,171 (GRCm39) F63L possibly damaging Het
Cdk14 A G 5: 5,086,484 (GRCm39) Y279H probably damaging Het
Cflar A T 1: 58,780,190 (GRCm39) I265F possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,897,272 (GRCm39) Y347* probably null Het
Defa27 T C 8: 21,805,583 (GRCm39) S8P probably damaging Het
Depdc5 A C 5: 33,113,511 (GRCm39) probably null Het
Dlg5 A G 14: 24,216,323 (GRCm39) F573S probably damaging Het
Fam20c A T 5: 138,741,749 (GRCm39) E120V probably benign Het
Fam53a T C 5: 33,764,819 (GRCm39) K296E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fndc1 T C 17: 7,972,355 (GRCm39) T1526A possibly damaging Het
Gm14325 A C 2: 177,476,042 (GRCm39) probably null Het
Gm7582 G A 1: 85,019,588 (GRCm39) noncoding transcript Het
Golga7b A C 19: 42,255,239 (GRCm39) Y63S probably damaging Het
Hexb A G 13: 97,334,729 (GRCm39) L14P unknown Het
Hsd17b3 A C 13: 64,236,914 (GRCm39) L10R probably damaging Het
Il6st T C 13: 112,635,420 (GRCm39) F611L probably damaging Het
Ints13 T A 6: 146,457,646 (GRCm39) T411S possibly damaging Het
Kif18b C A 11: 102,799,146 (GRCm39) C685F probably damaging Het
Kif5c A G 2: 49,509,729 (GRCm39) N19S probably damaging Het
Lmbr1 G T 5: 29,497,221 (GRCm39) probably null Het
Minar1 A G 9: 89,484,792 (GRCm39) S202P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrc2 G A 11: 105,216,397 (GRCm39) R62Q probably benign Het
Myo1g T C 11: 6,458,183 (GRCm39) probably benign Het
Myo5a A T 9: 75,037,423 (GRCm39) probably benign Het
Nobox G A 6: 43,282,095 (GRCm39) S326L possibly damaging Het
Nsl1 C A 1: 190,795,300 (GRCm39) S22* probably null Het
Or5b3 A C 19: 13,388,826 (GRCm39) K298Q possibly damaging Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Pdia3 T A 2: 121,260,037 (GRCm39) L192Q probably damaging Het
Pkd2 A T 5: 104,651,471 (GRCm39) R940* probably null Het
Plcd3 T A 11: 102,967,568 (GRCm39) Q458L probably benign Het
Polm T A 11: 5,786,343 (GRCm39) T75S probably benign Het
Pon3 T A 6: 5,232,330 (GRCm39) D230V possibly damaging Het
Pxdn A T 12: 30,053,113 (GRCm39) K917* probably null Het
Rad54l2 A G 9: 106,577,784 (GRCm39) S1046P probably benign Het
Rb1cc1 T C 1: 6,318,035 (GRCm39) probably null Het
Rnf215 A G 11: 4,086,785 (GRCm39) E194G probably damaging Het
Rorb A T 19: 18,915,336 (GRCm39) F441I probably damaging Het
Sel1l2 C A 2: 140,090,508 (GRCm39) G378V probably damaging Het
Sema6a G T 18: 47,431,281 (GRCm39) A139D probably damaging Het
Siglec15 A C 18: 78,092,462 (GRCm39) L32R probably damaging Het
Siglecg A T 7: 43,067,476 (GRCm39) D681V probably damaging Het
Slc6a13 G T 6: 121,303,066 (GRCm39) probably benign Het
Slc9b2 G T 3: 135,024,179 (GRCm39) A77S probably benign Het
Slit3 T A 11: 35,598,890 (GRCm39) V1498D probably damaging Het
Snorc A G 1: 87,402,926 (GRCm39) probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Stxbp2 T C 8: 3,683,267 (GRCm39) probably benign Het
Tbc1d9b T C 11: 50,042,773 (GRCm39) S482P possibly damaging Het
Tec A G 5: 72,926,090 (GRCm39) S321P possibly damaging Het
Tenm3 A G 8: 48,688,381 (GRCm39) M2402T probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tm4sf1 A T 3: 57,200,537 (GRCm39) probably null Het
Tmcc1 T C 6: 116,019,889 (GRCm39) E306G probably damaging Het
Traf3ip3 A T 1: 192,877,182 (GRCm39) probably null Het
Utf1 C T 7: 139,523,875 (GRCm39) P30L possibly damaging Het
Wdfy3 A T 5: 102,077,847 (GRCm39) C880S 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
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
R6092:Serpinb3d UTSW 1 107,006,989 (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'- TTCATTTACCTCCACAAAGGACTTG -3'
(R):5'- TGAATCACACTGCAGGCTTG -3'

Sequencing Primer
(F):5'- GTGTAAAACTTTAGACACCACGAG -3'
(R):5'- TCAACATAATGCCACTAATATGGAAC -3'
Posted On 2017-02-08