Incidental Mutation 'R6314:Serpina1d'
ID 509955
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
MMRRC Submission 044471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6314 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 103729853-103739851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103730959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 340 (T340S)
Ref Sequence ENSEMBL: ENSMUSP00000077909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078869] [ENSMUST00000164454]
AlphaFold Q00897
Predicted Effect probably benign
Transcript: ENSMUST00000078869
AA Change: T340S

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
AA Change: T340S

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
Meta Mutation Damage Score 0.5938 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A C 5: 146,441,702 (GRCm39) E283A possibly damaging Het
Aadacl2 A T 3: 59,924,824 (GRCm39) R130S probably damaging Het
Adam22 A T 5: 8,177,365 (GRCm39) C581* probably null Het
Adss2 T A 1: 177,595,334 (GRCm39) Y402F probably damaging Het
Agfg1 A T 1: 82,836,155 (GRCm39) Q13H probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Armc8 A G 9: 99,417,937 (GRCm39) S74P probably benign Het
Atn1 A T 6: 124,724,013 (GRCm39) probably benign Het
Ddx5 T C 11: 106,679,347 (GRCm39) probably benign Het
Depdc1a T A 3: 159,204,051 (GRCm39) H33Q probably damaging Het
Dnmt3l A T 10: 77,895,521 (GRCm39) Y58F probably benign Het
Efemp1 C T 11: 28,864,603 (GRCm39) T219I probably benign Het
Enpp2 T C 15: 54,729,366 (GRCm39) N436D probably damaging Het
Epb41l4a A G 18: 34,007,208 (GRCm39) V261A probably damaging Het
Erap1 A T 13: 74,822,894 (GRCm39) K802N probably damaging Het
Fads2b T C 2: 85,332,520 (GRCm39) N168S probably benign Het
Fcrl6 T A 1: 172,426,186 (GRCm39) probably null Het
Fv1 A T 4: 147,954,156 (GRCm39) probably null Het
Gdpd4 T A 7: 97,623,160 (GRCm39) M257K probably damaging Het
Gorab T C 1: 163,224,658 (GRCm39) S48G probably damaging Het
Gxylt2 A T 6: 100,775,164 (GRCm39) H361L probably damaging Het
Hk1 A G 10: 62,128,223 (GRCm39) Y300H possibly damaging Het
Hk3 T C 13: 55,161,393 (GRCm39) R156G probably benign Het
Hook3 T A 8: 26,578,136 (GRCm39) M118L probably benign Het
Lmnb2 G A 10: 80,745,804 (GRCm39) R92C probably damaging Het
Lsr A G 7: 30,658,024 (GRCm39) L380P probably damaging Het
Mettl16 A T 11: 74,686,832 (GRCm39) R204* probably null Het
Or5h18 A T 16: 58,847,820 (GRCm39) I150K probably benign Het
Or7a37 A G 10: 78,806,179 (GRCm39) H232R probably benign Het
Or7e173 C A 9: 19,938,958 (GRCm39) S92I probably damaging Het
Orc3 C A 4: 34,579,797 (GRCm39) G494C possibly damaging Het
Pcare T G 17: 72,059,452 (GRCm39) Q75P probably benign Het
Pip5k1a G T 3: 94,975,432 (GRCm39) T346K probably damaging Het
Pitx1 A T 13: 55,974,166 (GRCm39) S222T possibly damaging Het
Pm20d1 T C 1: 131,743,754 (GRCm39) V473A possibly damaging Het
Pnpla6 C T 8: 3,571,572 (GRCm39) L168F probably benign Het
Pramel13 T C 4: 144,121,157 (GRCm39) D289G probably damaging Het
Reln C A 5: 22,357,482 (GRCm39) E195* probably null Het
S100a7l2 A T 3: 90,995,683 (GRCm39) V73E possibly damaging Het
Sec24b A T 3: 129,800,894 (GRCm39) probably null Het
Selenbp1 A G 3: 94,844,576 (GRCm39) N78D probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Snap29 T C 16: 17,237,183 (GRCm39) M98T probably benign Het
Son G T 16: 91,457,298 (GRCm39) probably benign Het
Spef1l A C 7: 139,556,402 (GRCm39) L195R possibly damaging Het
Tgfbi A T 13: 56,773,976 (GRCm39) T252S probably benign Het
Thsd7a T C 6: 12,554,996 (GRCm39) N296S possibly damaging Het
Tmem225 C G 9: 40,062,016 (GRCm39) T210S probably benign Het
Tmem245 A T 4: 56,888,592 (GRCm39) V778D possibly damaging Het
Tor4a T C 2: 25,084,794 (GRCm39) R370G possibly damaging Het
Tubgcp3 T C 8: 12,698,625 (GRCm39) H442R probably benign Het
Vmn1r20 A T 6: 57,409,042 (GRCm39) M123L probably benign Het
Zfp622 T C 15: 25,987,067 (GRCm39) V273A probably benign Het
Zhx1 C T 15: 57,917,398 (GRCm39) V283I probably benign 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
R3731:Serpina1d UTSW 12 103,734,164 (GRCm39) missense possibly damaging 0.63
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
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'- AAGTGAATCCTGACAGTCCTCAG -3'
(R):5'- GTTCAGTGTGAGAACCAGCC -3'

Sequencing Primer
(F):5'- TCAGAAAGACCTTAGCCGGTAATCTG -3'
(R):5'- CACAACTGGGTGGGTCTTGAC -3'
Posted On 2018-04-02