Incidental Mutation 'R5279:AW554918'
ID 404147
Institutional Source Beutler Lab
Gene Symbol AW554918
Ensembl Gene ENSMUSG00000033632
Gene Name expressed sequence AW554918
Synonyms
MMRRC Submission 042839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5279 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 25302056-25600378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 25308488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 60 (D60E)
Ref Sequence ENSEMBL: ENSMUSP00000095248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]
AlphaFold Q6NZK5
Predicted Effect probably benign
Transcript: ENSMUST00000036619
AA Change: D60E

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632
AA Change: D60E

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.4e-154 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097643
AA Change: D60E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632
AA Change: D60E

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 2.5e-154 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159605
AA Change: D60E

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000160530
AA Change: D60E

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162149
Predicted Effect probably benign
Transcript: ENSMUST00000165400
AA Change: D60E

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632
AA Change: D60E

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.6e-160 PFAM
Meta Mutation Damage Score 0.0661 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C A 17: 24,508,388 (GRCm39) G1049V probably damaging Het
Afdn G A 17: 14,109,214 (GRCm39) R1579H probably damaging Het
Ankrd28 T A 14: 31,456,963 (GRCm39) N386Y probably damaging Het
Atf7ip T A 6: 136,580,377 (GRCm39) Y1100* probably null Het
Atp9b T A 18: 80,956,073 (GRCm39) E3V probably damaging Het
Baz2b G T 2: 59,762,496 (GRCm39) Q927K probably damaging Het
Birc6 A G 17: 74,957,042 (GRCm39) R3659G probably damaging Het
C8a T G 4: 104,703,185 (GRCm39) N291H probably damaging Het
Calcoco1 G A 15: 102,619,420 (GRCm39) L390F probably damaging Het
Carmil3 A G 14: 55,739,028 (GRCm39) D894G probably damaging Het
Cdc20 A G 4: 118,290,711 (GRCm39) Y430H probably damaging Het
Cdc6 A T 11: 98,803,088 (GRCm39) I316F probably damaging Het
Ceacam23 T A 7: 17,607,214 (GRCm39) noncoding transcript Het
Cenpu T A 8: 47,031,945 (GRCm39) probably null Het
Csmd2 T A 4: 128,350,707 (GRCm39) V1592D probably benign Het
Csmd3 G T 15: 48,655,340 (GRCm39) probably null Het
Dnah7c T C 1: 46,558,429 (GRCm39) F512L probably benign Het
Fam136a T A 6: 86,343,686 (GRCm39) L61Q probably damaging Het
Fpgs A C 2: 32,582,779 (GRCm39) probably benign Het
Fzd4 G A 7: 89,056,881 (GRCm39) M309I probably benign Het
Gad2 A G 2: 22,563,969 (GRCm39) T391A probably benign Het
Gm11563 A T 11: 99,549,539 (GRCm39) S72T unknown Het
Gon4l A G 3: 88,794,944 (GRCm39) I716V probably benign Het
Itga9 T C 9: 118,457,273 (GRCm39) V128A probably damaging Het
Kat6a CGCAGCAGCAGCAGCAGCA CGCAGCAGCAGCA 8: 23,429,664 (GRCm39) probably benign Het
Lrrc9 T A 12: 72,542,368 (GRCm39) D1063E possibly damaging Het
Lyst T A 13: 13,823,387 (GRCm39) L1453* probably null Het
Mcm3ap T C 10: 76,343,373 (GRCm39) V1755A probably damaging Het
Mrc1 T C 2: 14,314,869 (GRCm39) S985P probably damaging Het
Mst1 A C 9: 107,959,414 (GRCm39) K233N probably damaging Het
Nr2c2ap G A 8: 70,584,653 (GRCm39) D42N probably damaging Het
Ntn1 A G 11: 68,276,538 (GRCm39) S137P probably benign Het
Pard3 T C 8: 128,186,867 (GRCm39) probably null Het
Pcdh15 T A 10: 74,430,015 (GRCm39) D1210E probably damaging Het
Pcdhga5 T C 18: 37,827,774 (GRCm39) L74P probably benign Het
Pcsk5 T C 19: 17,573,022 (GRCm39) probably null Het
Pdia3 T C 2: 121,244,484 (GRCm39) probably benign Het
Pikfyve A T 1: 65,235,858 (GRCm39) R177* probably null Het
Pklr A G 3: 89,050,566 (GRCm39) E409G probably damaging Het
Plod2 T C 9: 92,463,376 (GRCm39) Y154H probably damaging Het
Psmc3 T A 2: 90,884,667 (GRCm39) D6E probably benign Het
Ptpru T A 4: 131,547,334 (GRCm39) N205I possibly damaging Het
Rbm6 T C 9: 107,655,213 (GRCm39) E1006G probably benign Het
Rgl2 T C 17: 34,154,922 (GRCm39) V642A probably benign Het
Rnf8 T A 17: 29,845,680 (GRCm39) H104Q possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rpa1 T C 11: 75,204,170 (GRCm39) N269S probably damaging Het
Sdk2 A G 11: 113,757,857 (GRCm39) M519T probably benign Het
Snx30 A G 4: 59,885,070 (GRCm39) S237G probably benign Het
Spx A G 6: 142,359,766 (GRCm39) N36S probably damaging Het
Stard7 T C 2: 127,137,416 (GRCm39) Y289H probably damaging Het
Sugp2 T C 8: 70,709,757 (GRCm39) probably benign Het
Susd4 C T 1: 182,715,043 (GRCm39) T288I probably damaging Het
Tceanc2 T A 4: 107,034,826 (GRCm39) probably null Het
Tm4sf4 T G 3: 57,341,159 (GRCm39) V97G probably benign Het
Tmtc1 C T 6: 148,256,629 (GRCm39) probably benign Het
Trappc11 C T 8: 47,958,339 (GRCm39) probably benign Het
Triobp G T 15: 78,878,591 (GRCm39) V398F possibly damaging Het
Ttll9 T A 2: 152,804,464 (GRCm39) S2T possibly damaging Het
Ttn T C 2: 76,731,320 (GRCm39) probably benign Het
Tyw3 A G 3: 154,300,108 (GRCm39) C80R probably damaging Het
Usp24 T C 4: 106,242,621 (GRCm39) V1177A possibly damaging Het
Vmn1r65 A G 7: 6,011,754 (GRCm39) V160A probably damaging Het
Vmn2r104 T A 17: 20,262,146 (GRCm39) H328L probably benign Het
Vmn2r65 A C 7: 84,589,849 (GRCm39) I689S probably damaging Het
Wrn A G 8: 33,731,129 (GRCm39) Y1068H probably damaging Het
Xpo4 C A 14: 57,850,866 (GRCm39) S346I probably benign Het
Zc3h3 T A 15: 75,711,439 (GRCm39) T341S probably benign Het
Zxdc T C 6: 90,347,419 (GRCm39) M260T possibly damaging Het
Other mutations in AW554918
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:AW554918 APN 18 25,553,122 (GRCm39) nonsense probably null
IGL01443:AW554918 APN 18 25,478,012 (GRCm39) missense probably damaging 1.00
IGL01973:AW554918 APN 18 25,553,056 (GRCm39) missense probably damaging 1.00
IGL02743:AW554918 APN 18 25,423,001 (GRCm39) nonsense probably null
PIT4802001:AW554918 UTSW 18 25,473,132 (GRCm39) missense possibly damaging 0.90
R0081:AW554918 UTSW 18 25,477,959 (GRCm39) missense probably benign 0.00
R0567:AW554918 UTSW 18 25,533,092 (GRCm39) missense possibly damaging 0.83
R0709:AW554918 UTSW 18 25,596,711 (GRCm39) missense probably damaging 1.00
R1052:AW554918 UTSW 18 25,553,067 (GRCm39) missense probably benign 0.05
R1418:AW554918 UTSW 18 25,472,756 (GRCm39) splice site probably null
R1530:AW554918 UTSW 18 25,533,161 (GRCm39) missense probably damaging 0.97
R2406:AW554918 UTSW 18 25,473,344 (GRCm39) missense possibly damaging 0.95
R3414:AW554918 UTSW 18 25,533,129 (GRCm39) missense possibly damaging 0.76
R3815:AW554918 UTSW 18 25,533,104 (GRCm39) missense probably benign 0.42
R4683:AW554918 UTSW 18 25,472,852 (GRCm39) missense probably benign 0.04
R4722:AW554918 UTSW 18 25,307,772 (GRCm39) nonsense probably null
R4843:AW554918 UTSW 18 25,473,057 (GRCm39) missense probably benign 0.00
R5199:AW554918 UTSW 18 25,473,356 (GRCm39) missense probably damaging 1.00
R5580:AW554918 UTSW 18 25,472,922 (GRCm39) missense probably damaging 1.00
R7259:AW554918 UTSW 18 25,422,906 (GRCm39) splice site probably null
R7388:AW554918 UTSW 18 25,473,170 (GRCm39) missense probably benign 0.05
R7399:AW554918 UTSW 18 25,302,117 (GRCm39) missense possibly damaging 0.67
R8249:AW554918 UTSW 18 25,472,775 (GRCm39) missense probably benign 0.33
R8905:AW554918 UTSW 18 25,473,206 (GRCm39) missense probably damaging 1.00
R8916:AW554918 UTSW 18 25,423,049 (GRCm39) missense probably damaging 1.00
R9256:AW554918 UTSW 18 25,423,061 (GRCm39) missense probably damaging 1.00
R9794:AW554918 UTSW 18 25,337,031 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGACTTATGAATGTCTGTAGCATC -3'
(R):5'- GCATACATGTGTGCACCCATG -3'

Sequencing Primer
(F):5'- TAATCTTCTTCACACATGCACAC -3'
(R):5'- TGTGCACCCATGGCCCC -3'
Posted On 2016-07-22