Incidental Mutation 'R8206:9230110F15Rik'
ID635920
Institutional Source Beutler Lab
Gene Symbol 9230110F15Rik
Ensembl Gene ENSMUSG00000047980
Gene NameRIKEN cDNA 9230110F15 gene
SynonymsPate-A, mANLP3
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R8206 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location35838329-35844150 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 35839423 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 34 (F34L)
Ref Sequence ENSEMBL: ENSMUSP00000051917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054175]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054175
AA Change: F34L

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000051917
Gene: ENSMUSG00000047980
AA Change: F34L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 89,025,096 Y342H probably damaging Het
Aqp4 T A 18: 15,393,659 D255V possibly damaging Het
Arhgap26 C A 18: 39,306,750 S247* probably null Het
Arid4a A G 12: 71,086,587 D1154G probably damaging Het
Atpaf2 A G 11: 60,404,478 I182T probably damaging Het
Cacna1i C A 15: 80,389,815 probably null Het
Ccdc38 A G 10: 93,563,284 S205G probably damaging Het
Cep63 A G 9: 102,621,271 probably benign Het
Cyp24a1 T C 2: 170,491,669 T255A possibly damaging Het
Dlg5 A G 14: 24,160,268 S787P possibly damaging Het
Dnah6 A T 6: 73,037,566 C3679* probably null Het
Dpy19l3 T C 7: 35,729,730 Y95C probably damaging Het
Erc2 G A 14: 28,303,015 probably null Het
Ezh2 A T 6: 47,532,900 probably null Het
Fgfr1 A G 8: 25,570,242 T463A probably damaging Het
Fsip2 T C 2: 82,990,464 S5514P possibly damaging Het
Glrb A G 3: 80,851,066 Y347H probably damaging Het
Gm14325 C A 2: 177,832,974 C105F probably damaging Het
Hgsnat T C 8: 25,954,637 T428A probably damaging Het
Ighv1-76 T C 12: 115,848,314 M1V probably null Het
Inppl1 A G 7: 101,823,576 I1207T possibly damaging Het
Kmt2c T A 5: 25,314,539 Q2191L probably damaging Het
Krt79 T A 15: 101,940,270 probably null Het
Mast4 G A 13: 102,735,739 L2374F probably damaging Het
Mfsd7c GTAGTGTATA GTA 12: 85,803,148 probably null Het
Mgam A G 6: 40,680,235 N951S probably benign Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Naip6 A T 13: 100,294,836 C1164* probably null Het
Nfatc2ip G T 7: 126,390,734 D189E probably damaging Het
Nrp1 A G 8: 128,457,957 D361G probably damaging Het
Nrp2 T C 1: 62,747,215 I293T probably damaging Het
Pde3a T C 6: 141,487,885 V831A probably damaging Het
Pirb A G 7: 3,712,906 probably null Het
Plch1 G T 3: 63,702,626 probably null Het
Plekhh2 A G 17: 84,590,849 T973A possibly damaging Het
Ppp1r35 T A 5: 137,780,034 I97K unknown Het
Ppp1r3c C T 19: 36,733,446 G308E probably benign Het
Prss12 G A 3: 123,464,962 probably null Het
Rad51b A G 12: 79,314,941 D142G probably damaging Het
Slc13a3 C T 2: 165,406,825 G553D probably damaging Het
Spata31d1d A C 13: 59,731,530 V64G probably benign Het
Srp68 G A 11: 116,273,983 R42C probably damaging Het
Syne2 T C 12: 76,015,591 V4229A probably benign Het
Tas2r144 G A 6: 42,215,391 V22M probably damaging Het
Tcf7l1 A G 6: 72,627,412 L583P probably damaging Het
Tdgf1 G A 9: 110,944,284 probably benign Het
Tdrd3 A G 14: 87,511,778 D708G probably benign Het
Tns4 A T 11: 99,085,801 L98Q probably damaging Het
Zfp677 T A 17: 21,392,455 probably null Het
Other mutations in 9230110F15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02732:9230110F15Rik APN 9 35839049 missense probably damaging 1.00
R0904:9230110F15Rik UTSW 9 35839070 missense probably damaging 1.00
R1599:9230110F15Rik UTSW 9 35839037 missense probably benign 0.05
R2135:9230110F15Rik UTSW 9 35839183 splice site probably null
R4135:9230110F15Rik UTSW 9 35839428 missense possibly damaging 0.94
R4951:9230110F15Rik UTSW 9 35839436 missense probably damaging 0.99
R6455:9230110F15Rik UTSW 9 35844055 nonsense probably null
R6567:9230110F15Rik UTSW 9 35839115 missense probably benign 0.14
R8889:9230110F15Rik UTSW 9 35839386 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTACCAACCCTGTTTCCCGAG -3'
(R):5'- CAATCAAAATTGTGATGTCAAGCCC -3'

Sequencing Primer
(F):5'- CCCGAGGAGGAATATAGCTTCTTC -3'
(R):5'- ATTGTGATGTCAAGCCCTTAGC -3'
Posted On2020-07-13