Incidental Mutation 'R3731:Serpina1d'
ID 271004
Institutional Source Beutler Lab
Gene Symbol Serpina1d
Ensembl Gene ENSMUSG00000071177
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 1D
Synonyms PI4, Spi1-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R3731 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103729853-103739851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103734164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 47 (N47Y)
Ref Sequence ENSEMBL: ENSMUSP00000077909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078869] [ENSMUST00000164454]
AlphaFold Q00897
Predicted Effect possibly damaging
Transcript: ENSMUST00000078869
AA Change: N47Y

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
AA Change: N47Y

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
SERPIN 53 410 3.17e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164454
SMART Domains Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T A 16: 14,427,485 (GRCm39) probably null Het
Abcc5 A T 16: 20,217,684 (GRCm39) Y5* probably null Het
Acbd6 T A 1: 155,434,471 (GRCm39) S30T probably benign Het
Adar T C 3: 89,653,962 (GRCm39) I325T probably damaging Het
Akap13 T C 7: 75,261,125 (GRCm39) S92P probably benign Het
Atp1a4 A T 1: 172,061,528 (GRCm39) V771E probably damaging Het
Cfh A G 1: 140,047,708 (GRCm39) S492P possibly damaging Het
Crlf1 A G 8: 70,952,092 (GRCm39) T95A probably benign Het
Dennd2d T G 3: 106,407,271 (GRCm39) F441V probably damaging Het
Dhx33 T C 11: 70,879,978 (GRCm39) D344G probably benign Het
Disp3 A G 4: 148,337,284 (GRCm39) S844P probably benign Het
Dock2 T C 11: 34,599,722 (GRCm39) K286E probably damaging Het
Fam228a T C 12: 4,768,671 (GRCm39) E203G probably benign Het
Fbxo38 GTGCTGCTGCTGCTGCTGCTGC GTGCTGCTGCTGCTGCTGC 18: 62,648,399 (GRCm39) probably benign Het
Frmpd4 G A X: 166,269,803 (GRCm39) T493M probably damaging Het
Galnt13 A G 2: 54,823,519 (GRCm39) N365S possibly damaging Het
Hrob A G 11: 102,148,732 (GRCm39) E381G possibly damaging Het
Ighv1-19 C A 12: 114,672,497 (GRCm39) C40F probably damaging Het
Ints4 A G 7: 97,155,308 (GRCm39) Q320R probably benign Het
Kctd5 T C 17: 24,278,212 (GRCm39) D146G probably benign Het
Loxl3 T C 6: 83,027,652 (GRCm39) probably null Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrp2 A T 2: 69,365,251 (GRCm39) probably null Het
Manba G A 3: 135,260,611 (GRCm39) V599I probably benign Het
Mbd6 A G 10: 127,121,637 (GRCm39) probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nepn A T 10: 52,280,110 (GRCm39) N401Y probably damaging Het
Nol10 A T 12: 17,474,674 (GRCm39) K622I probably benign Het
Npas3 T C 12: 53,401,175 (GRCm39) I40T probably benign Het
Or1e29 T C 11: 73,667,565 (GRCm39) E196G probably benign Het
Or1j19 A T 2: 36,676,578 (GRCm39) I14F possibly damaging Het
Or2d4 T A 7: 106,543,684 (GRCm39) N175Y probably damaging Het
Or4n4b T A 14: 50,535,962 (GRCm39) D268V probably damaging Het
Or5p73 T C 7: 108,064,633 (GRCm39) I34T possibly damaging Het
Or8g33 T A 9: 39,338,365 (GRCm39) M1L probably benign Het
Phtf1 A G 3: 103,893,095 (GRCm39) M120V probably benign Het
Plxna2 A G 1: 194,471,193 (GRCm39) Y988C probably benign Het
Rgs12 G A 5: 35,189,595 (GRCm39) E658K probably damaging Het
Ripor3 C G 2: 167,834,739 (GRCm39) E251Q probably damaging Het
Sec24b T C 3: 129,827,482 (GRCm39) K203R possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sirpb1c T C 3: 15,887,287 (GRCm39) K184R probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Upp2 T C 2: 58,645,379 (GRCm39) S41P probably benign Het
Vmn1r10 A G 6: 57,090,719 (GRCm39) T104A probably damaging Het
Wdhd1 A C 14: 47,485,349 (GRCm39) S838R possibly damaging Het
Zer1 A G 2: 30,000,923 (GRCm39) V166A probably benign Het
Zfp217 T C 2: 169,956,308 (GRCm39) N897D probably benign Het
Zfp960 T A 17: 17,308,633 (GRCm39) L449H probably damaging Het
Other mutations in Serpina1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Serpina1d APN 12 103,729,993 (GRCm39) missense probably benign 0.00
IGL02175:Serpina1d APN 12 103,731,955 (GRCm39) splice site probably null
IGL02336:Serpina1d APN 12 103,731,055 (GRCm39) nonsense probably null
IGL03260:Serpina1d APN 12 103,730,108 (GRCm39) missense probably damaging 0.98
BB008:Serpina1d UTSW 12 103,733,815 (GRCm39) missense probably damaging 0.99
BB018:Serpina1d UTSW 12 103,733,815 (GRCm39) missense probably damaging 0.99
R0119:Serpina1d UTSW 12 103,732,016 (GRCm39) missense probably damaging 1.00
R0299:Serpina1d UTSW 12 103,732,016 (GRCm39) missense probably damaging 1.00
R0348:Serpina1d UTSW 12 103,730,034 (GRCm39) missense probably benign 0.05
R0499:Serpina1d UTSW 12 103,732,016 (GRCm39) missense probably damaging 1.00
R1086:Serpina1d UTSW 12 103,730,046 (GRCm39) missense probably benign
R1864:Serpina1d UTSW 12 103,734,256 (GRCm39) missense probably benign 0.21
R1883:Serpina1d UTSW 12 103,732,037 (GRCm39) missense possibly damaging 0.64
R1884:Serpina1d UTSW 12 103,732,037 (GRCm39) missense possibly damaging 0.64
R3973:Serpina1d UTSW 12 103,734,107 (GRCm39) missense probably benign 0.01
R3976:Serpina1d UTSW 12 103,734,107 (GRCm39) missense probably benign 0.01
R4227:Serpina1d UTSW 12 103,733,740 (GRCm39) missense probably benign 0.03
R4783:Serpina1d UTSW 12 103,734,083 (GRCm39) missense possibly damaging 0.87
R5672:Serpina1d UTSW 12 103,730,101 (GRCm39) missense possibly damaging 0.69
R5764:Serpina1d UTSW 12 103,732,080 (GRCm39) missense probably benign 0.00
R6244:Serpina1d UTSW 12 103,731,087 (GRCm39) splice site probably null
R6314:Serpina1d UTSW 12 103,730,959 (GRCm39) missense probably benign 0.39
R6548:Serpina1d UTSW 12 103,733,811 (GRCm39) missense probably damaging 1.00
R6554:Serpina1d UTSW 12 103,731,062 (GRCm39) missense probably benign 0.09
R6953:Serpina1d UTSW 12 103,733,989 (GRCm39) missense probably benign 0.00
R7106:Serpina1d UTSW 12 103,731,980 (GRCm39) missense probably benign 0.01
R7390:Serpina1d UTSW 12 103,734,037 (GRCm39) missense possibly damaging 0.86
R7931:Serpina1d UTSW 12 103,733,815 (GRCm39) missense probably damaging 0.99
R8085:Serpina1d UTSW 12 103,730,087 (GRCm39) missense probably damaging 1.00
R9294:Serpina1d UTSW 12 103,734,257 (GRCm39) missense probably damaging 0.99
R9473:Serpina1d UTSW 12 103,729,939 (GRCm39) makesense probably null
R9667:Serpina1d UTSW 12 103,734,299 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGGACTTGTGGATGTCAGCC -3'
(R):5'- GTAGCTGATAGGAGTCACCACAG -3'

Sequencing Primer
(F):5'- TGGATGTCAGCCTCCGATG -3'
(R):5'- GATAGGAGTCACCACAGCCCTG -3'
Posted On 2015-03-18