Incidental Mutation 'R8713:Spryd3'
ID 669735
Institutional Source Beutler Lab
Gene Symbol Spryd3
Ensembl Gene ENSMUSG00000036966
Gene Name SPRY domain containing 3
Synonyms
MMRRC Submission 068567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8713 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102024963-102044669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102041920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 34 (I34T)
Ref Sequence ENSEMBL: ENSMUSP00000121493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000154032]
AlphaFold E9Q9B3
Predicted Effect possibly damaging
Transcript: ENSMUST00000154032
AA Change: I34T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121493
Gene: ENSMUSG00000036966
AA Change: I34T

DomainStartEndE-ValueType
low complexity region 28 38 N/A INTRINSIC
SPRY 76 201 1.66e-11 SMART
SPRY 256 441 3.28e-15 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,030,518 (GRCm39) A581V possibly damaging Het
Adam18 T A 8: 25,142,189 (GRCm39) M196L probably benign Het
Ankrd10 A G 8: 11,678,491 (GRCm39) S134P probably damaging Het
Ano8 C T 8: 71,937,721 (GRCm39) G47D probably damaging Het
Arl6ip4 T C 5: 124,254,825 (GRCm39) V4A unknown Het
Cabp4 C T 19: 4,186,159 (GRCm39) M247I probably benign Het
Ccdc30 A T 4: 119,261,404 (GRCm39) L11Q probably damaging Het
Cdkl4 A G 17: 80,841,292 (GRCm39) S288P possibly damaging Het
Celsr3 A G 9: 108,707,062 (GRCm39) I1182V probably benign Het
Dnah17 T C 11: 117,979,028 (GRCm39) D1788G probably damaging Het
Dsp A G 13: 38,352,701 (GRCm39) D193G probably damaging Het
Dym T G 18: 75,189,809 (GRCm39) Y132* probably null Het
Dync2h1 G A 9: 7,141,008 (GRCm39) Q1340* probably null Het
Elmo1 T C 13: 20,458,791 (GRCm39) probably benign Het
Fbxw15 A C 9: 109,384,667 (GRCm39) F378V possibly damaging Het
Fsip2 G A 2: 82,811,453 (GRCm39) G2591R probably damaging Het
Gps2 C A 11: 69,806,180 (GRCm39) D148E probably benign Het
Iars2 T C 1: 185,023,615 (GRCm39) D772G possibly damaging Het
Ifit1 T A 19: 34,625,038 (GRCm39) L58Q probably benign Het
Kctd4 A T 14: 76,200,366 (GRCm39) Q112H probably benign Het
Letm1 A G 5: 33,919,849 (GRCm39) L230P probably damaging Het
Lrch4 G T 5: 137,638,125 (GRCm39) E136* probably null Het
Macc1 T C 12: 119,407,261 (GRCm39) probably benign Het
Macrod1 T C 19: 7,034,494 (GRCm39) L79P probably benign Het
Map2 T A 1: 66,453,781 (GRCm39) N890K probably damaging Het
Mctp1 G A 13: 76,789,922 (GRCm39) S270N probably benign Het
Mrpl44 C T 1: 79,755,708 (GRCm39) R105C probably damaging Het
Mtg1 T A 7: 139,717,688 (GRCm39) probably null Het
Mtg1 T C 7: 139,720,136 (GRCm39) F68L probably benign Het
Nfil3 A G 13: 53,122,047 (GRCm39) S286P possibly damaging Het
Nutm1 A G 2: 112,081,667 (GRCm39) V332A possibly damaging Het
Obscn T A 11: 59,026,792 (GRCm39) Q137L probably benign Het
Pcnx2 T G 8: 126,545,525 (GRCm39) E1162A probably damaging Het
Pgr A G 9: 8,900,818 (GRCm39) D117G possibly damaging Het
Plce1 T C 19: 38,513,345 (GRCm39) C215R probably benign Het
Rrm1 T G 7: 102,109,558 (GRCm39) Y461D probably damaging Het
Sbk3 C T 7: 4,972,991 (GRCm39) V60I possibly damaging Het
Scube1 G T 15: 83,494,471 (GRCm39) A852E possibly damaging Het
Sec24d T A 3: 123,137,541 (GRCm39) I561N probably damaging Het
Slc16a4 T C 3: 107,218,901 (GRCm39) *501Q probably null Het
Slc6a19 C A 13: 73,848,740 (GRCm39) V5L probably benign Het
Syne1 A G 10: 5,266,040 (GRCm39) L2191P probably damaging Het
Tbrg1 A G 9: 37,563,955 (GRCm39) C227R probably damaging Het
Tdrd6 A G 17: 43,935,910 (GRCm39) S1713P probably benign Het
Thap12 C T 7: 98,356,283 (GRCm39) L57F probably benign Het
Top1 G A 2: 160,559,360 (GRCm39) V628I probably damaging Het
Trim67 A G 8: 125,547,074 (GRCm39) M495V probably null Het
Trio A C 15: 27,744,037 (GRCm39) probably benign Het
Vmn2r23 A T 6: 123,679,991 (GRCm39) Y71F Het
Ywhah A G 5: 33,184,535 (GRCm39) N246S probably benign Het
Zcwpw1 T C 5: 137,797,794 (GRCm39) I125T probably benign Het
Other mutations in Spryd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Spryd3 APN 15 102,038,711 (GRCm39) critical splice donor site probably null
IGL02138:Spryd3 APN 15 102,027,354 (GRCm39) unclassified probably benign
IGL02652:Spryd3 APN 15 102,027,425 (GRCm39) splice site probably null
IGL02716:Spryd3 APN 15 102,041,896 (GRCm39) missense possibly damaging 0.91
IGL02949:Spryd3 APN 15 102,026,544 (GRCm39) missense probably benign 0.03
B6819:Spryd3 UTSW 15 102,026,576 (GRCm39) missense probably benign 0.01
BB001:Spryd3 UTSW 15 102,026,762 (GRCm39) missense probably benign 0.18
BB011:Spryd3 UTSW 15 102,026,762 (GRCm39) missense probably benign 0.18
K7894:Spryd3 UTSW 15 102,026,576 (GRCm39) missense probably benign 0.01
R0111:Spryd3 UTSW 15 102,036,972 (GRCm39) critical splice donor site probably null
R0479:Spryd3 UTSW 15 102,038,835 (GRCm39) nonsense probably null
R0654:Spryd3 UTSW 15 102,036,969 (GRCm39) splice site probably null
R1014:Spryd3 UTSW 15 102,041,966 (GRCm39) missense probably damaging 0.98
R1448:Spryd3 UTSW 15 102,026,827 (GRCm39) missense possibly damaging 0.93
R1510:Spryd3 UTSW 15 102,027,396 (GRCm39) missense probably damaging 0.99
R1863:Spryd3 UTSW 15 102,026,094 (GRCm39) missense probably benign 0.17
R2069:Spryd3 UTSW 15 102,026,616 (GRCm39) missense probably benign 0.01
R2212:Spryd3 UTSW 15 102,038,711 (GRCm39) critical splice donor site probably null
R4581:Spryd3 UTSW 15 102,038,799 (GRCm39) missense probably damaging 0.98
R4892:Spryd3 UTSW 15 102,026,537 (GRCm39) missense probably benign 0.02
R5068:Spryd3 UTSW 15 102,037,046 (GRCm39) missense probably benign 0.02
R5586:Spryd3 UTSW 15 102,040,372 (GRCm39) missense probably benign
R5771:Spryd3 UTSW 15 102,025,342 (GRCm39) unclassified probably benign
R5945:Spryd3 UTSW 15 102,026,630 (GRCm39) missense probably benign 0.22
R7080:Spryd3 UTSW 15 102,026,627 (GRCm39) missense probably benign 0.04
R7816:Spryd3 UTSW 15 102,026,141 (GRCm39) missense probably damaging 0.99
R7924:Spryd3 UTSW 15 102,026,762 (GRCm39) missense probably benign 0.18
R8524:Spryd3 UTSW 15 102,026,583 (GRCm39) nonsense probably null
R9027:Spryd3 UTSW 15 102,027,843 (GRCm39) missense probably damaging 0.99
R9187:Spryd3 UTSW 15 102,039,110 (GRCm39) missense probably damaging 1.00
R9286:Spryd3 UTSW 15 102,041,869 (GRCm39) missense possibly damaging 0.91
R9411:Spryd3 UTSW 15 102,027,843 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAATAGTCCCAGTGACCCG -3'
(R):5'- CAAGTCTGGTGCACTTTGTAC -3'

Sequencing Primer
(F):5'- CAGTGACCCGGTGACAGAG -3'
(R):5'- TACATTCAGGGTTGAGCAGGC -3'
Posted On 2021-04-30