Incidental Mutation 'R6834:AU018091'
ID534503
Institutional Source Beutler Lab
Gene Symbol AU018091
Ensembl Gene ENSMUSG00000054753
Gene Nameexpressed sequence AU018091
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #R6834 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location3154658-3169203 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3157955 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 589 (I589F)
Ref Sequence ENSEMBL: ENSMUSP00000126800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171749] [ENSMUST00000203937]
Predicted Effect probably benign
Transcript: ENSMUST00000171749
AA Change: I589F

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: I589F

DomainStartEndE-ValueType
Pfam:AA_permease_2 82 504 2.9e-47 PFAM
Pfam:AA_permease 86 481 3.5e-31 PFAM
transmembrane domain 541 563 N/A INTRINSIC
transmembrane domain 573 593 N/A INTRINSIC
Pfam:AA_permease_C 604 654 9.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203937
SMART Domains Protein: ENSMUSP00000144796
Gene: ENSMUSG00000054753

DomainStartEndE-ValueType
Pfam:AA_permease_2 73 177 7.9e-11 PFAM
Pfam:AA_permease 77 176 3.1e-8 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,275,110 W530R possibly damaging Het
Aco1 A G 4: 40,164,747 K79R probably benign Het
Adam15 C T 3: 89,340,083 G426R probably damaging Het
Angptl1 A T 1: 156,844,693 I30L probably benign Het
Ankrd35 A G 3: 96,683,283 E295G possibly damaging Het
Ap5m1 T A 14: 49,073,737 V88E probably damaging Het
Astn1 A T 1: 158,664,122 Q47L probably benign Het
Atf6b T C 17: 34,649,157 S135P probably damaging Het
BC052040 T C 2: 115,674,784 S179P probably benign Het
Cenpf T C 1: 189,659,446 K730E probably damaging Het
Chrna6 C T 8: 27,408,310 probably null Het
Dmxl1 A T 18: 49,955,823 I2790F probably damaging Het
Ell A G 8: 70,579,134 D116G probably damaging Het
Eml5 A T 12: 98,887,024 H105Q probably damaging Het
Epb41l2 T A 10: 25,493,604 V23D possibly damaging Het
Gatad2b T A 3: 90,348,643 S139T probably benign Het
Glb1l A G 1: 75,201,753 V347A possibly damaging Het
Gm4846 A T 1: 166,494,578 I140N possibly damaging Het
Gm7534 A C 4: 134,193,165 V563G possibly damaging Het
Gm9268 G C 7: 43,023,580 A143P probably damaging Het
Gng11 A G 6: 4,008,068 I44V probably benign Het
H2-Ke6 T C 17: 34,027,217 S161G probably damaging Het
Hsp90ab1 T C 17: 45,570,467 I250V probably benign Het
Igkv4-79 A G 6: 69,043,272 S20P probably damaging Het
Il11ra1 A G 4: 41,765,454 H183R probably benign Het
Kcnip3 A T 2: 127,458,358 F252I probably damaging Het
Klk11 T C 7: 43,778,912 I242T probably damaging Het
Klk12 T C 7: 43,773,348 V233A possibly damaging Het
Lama3 G A 18: 12,491,548 C1450Y probably damaging Het
Lmod2 A T 6: 24,597,783 probably benign Het
Loxhd1 T A 18: 77,441,526 V1089E probably damaging Het
Lrba C T 3: 86,350,286 P1286S probably benign Het
Lrrc41 T C 4: 116,096,529 V804A possibly damaging Het
Lrrc8a T A 2: 30,255,647 S158T possibly damaging Het
Mcm3 A T 1: 20,810,096 M504K possibly damaging Het
Med24 A T 11: 98,705,024 probably null Het
Mrgprx1 T C 7: 48,021,637 S121G probably damaging Het
Mvb12a G A 8: 71,545,252 M103I probably benign Het
Olfr726 A G 14: 50,084,228 V151A probably damaging Het
Olfr730 T C 14: 50,186,483 I245V probably benign Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pacsin3 T A 2: 91,262,835 M224K probably damaging Het
Pam T A 1: 97,837,992 I771F probably damaging Het
Pamr1 C T 2: 102,614,931 R270C probably damaging Het
Pcdhgb8 G T 18: 37,762,089 A71S probably benign Het
Poc1b C T 10: 99,192,804 A336V probably benign Het
Prss39 G T 1: 34,498,616 V54F possibly damaging Het
Ptar1 A G 19: 23,717,924 T252A probably benign Het
Ptprz1 A G 6: 22,999,633 D574G probably benign Het
Rnf40 G A 7: 127,596,406 D635N probably benign Het
Scn1a T A 2: 66,327,742 Q429L probably damaging Het
Sf1 G T 19: 6,374,097 G386C probably damaging Het
Shank2 A T 7: 144,409,894 Y623F probably damaging Het
Slc9a5 G T 8: 105,364,684 A699S probably benign Het
Sox9 A T 11: 112,784,000 Q208L probably benign Het
Synpo2l A T 14: 20,660,634 D865E probably damaging Het
Szt2 A G 4: 118,388,325 S1097P probably benign Het
Tmc1 C A 19: 20,795,610 E676* probably null Het
Ubr3 T C 2: 70,000,481 I158T possibly damaging Het
Ush2a T C 1: 188,356,792 Y315H probably damaging Het
Vmn1r85 T C 7: 13,084,644 D191G probably damaging Het
Zfp358 A G 8: 3,495,613 D92G probably benign Het
Zfp735 G A 11: 73,710,608 G126D probably damaging Het
Other mutations in AU018091
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:AU018091 APN 7 3158763 missense probably benign 0.01
IGL01063:AU018091 APN 7 3162313 missense possibly damaging 0.62
IGL01598:AU018091 APN 7 3162270 missense possibly damaging 0.71
IGL03253:AU018091 APN 7 3164172 missense probably damaging 1.00
IGL03386:AU018091 APN 7 3161267 missense probably damaging 1.00
IGL02835:AU018091 UTSW 7 3169071 missense unknown
R0070:AU018091 UTSW 7 3158898 splice site probably null
R0070:AU018091 UTSW 7 3158898 splice site probably null
R0733:AU018091 UTSW 7 3159161 missense probably damaging 1.00
R1221:AU018091 UTSW 7 3158877 missense probably damaging 1.00
R1467:AU018091 UTSW 7 3164259 missense probably benign 0.01
R1467:AU018091 UTSW 7 3164259 missense probably benign 0.01
R1708:AU018091 UTSW 7 3156344 missense probably damaging 1.00
R1990:AU018091 UTSW 7 3162264 missense probably benign 0.25
R4043:AU018091 UTSW 7 3159122 missense probably damaging 1.00
R4369:AU018091 UTSW 7 3157975 nonsense probably null
R4501:AU018091 UTSW 7 3159079 missense probably benign 0.25
R4595:AU018091 UTSW 7 3158428 missense possibly damaging 0.91
R4853:AU018091 UTSW 7 3156021 missense probably damaging 1.00
R6836:AU018091 UTSW 7 3164156 missense probably damaging 1.00
R6941:AU018091 UTSW 7 3159427 critical splice donor site probably null
R7153:AU018091 UTSW 7 3159513 missense probably benign 0.01
R7196:AU018091 UTSW 7 3163958 missense probably damaging 1.00
R7237:AU018091 UTSW 7 3159166 missense probably benign 0.00
R7366:AU018091 UTSW 7 3156330 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTTGAATTCCTGAGTTCCC -3'
(R):5'- CTTGGTTGGATGTAGCCCAG -3'

Sequencing Primer
(F):5'- CTCCTGAGTTCTGGGACTAAAGAC -3'
(R):5'- ATGTAGCCCAGTGTTCTGACAGAC -3'
Posted On2018-09-12