Incidental Mutation 'R2406:AW554918'
ID 248031
Institutional Source Beutler Lab
Gene Symbol AW554918
Ensembl Gene ENSMUSG00000033632
Gene Name expressed sequence AW554918
Synonyms
MMRRC Submission 040372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R2406 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 25302056-25600378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25473344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 180 (I180V)
Ref Sequence ENSEMBL: ENSMUSP00000097708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000100131] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]
AlphaFold Q6NZK5
Predicted Effect possibly damaging
Transcript: ENSMUST00000036619
AA Change: I383V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632
AA Change: I383V

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.4e-154 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097643
AA Change: I383V

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632
AA Change: I383V

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 2.5e-154 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100131
AA Change: I180V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097708
Gene: ENSMUSG00000033632
AA Change: I180V

DomainStartEndE-ValueType
Pfam:KIAA1328 1 211 9.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159605
Predicted Effect probably benign
Transcript: ENSMUST00000160530
Predicted Effect probably benign
Transcript: ENSMUST00000165400
AA Change: I383V

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632
AA Change: I383V

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.6e-160 PFAM
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 95% (42/44)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,879,352 (GRCm39) V230E probably damaging Het
Adam22 A T 5: 8,230,064 (GRCm39) probably benign Het
C9 T C 15: 6,512,780 (GRCm39) S301P possibly damaging Het
Cdc42bpb T C 12: 111,268,558 (GRCm39) Q1214R probably benign Het
Chaf1b T C 16: 93,697,043 (GRCm39) I351T probably damaging Het
Clip1 T C 5: 123,741,723 (GRCm39) E1177G probably damaging Het
Colgalt1 G A 8: 72,070,312 (GRCm39) C198Y probably damaging Het
Dennd4b C T 3: 90,182,795 (GRCm39) R871C probably damaging Het
Efcab3 A T 11: 104,611,457 (GRCm39) D433V probably benign Het
Eif4ebp1 A G 8: 27,763,362 (GRCm39) I52V probably damaging Het
Fbxw5 T C 2: 25,394,195 (GRCm39) I86T probably damaging Het
Gm10650 A G 3: 127,833,530 (GRCm39) noncoding transcript Het
Helz G A 11: 107,577,378 (GRCm39) A1910T unknown Het
Hsf2 C T 10: 57,373,642 (GRCm39) T70I probably damaging Het
Ifih1 A G 2: 62,437,447 (GRCm39) probably benign Het
Kdm2a T C 19: 4,372,546 (GRCm39) D933G probably damaging Het
Macc1 T C 12: 119,429,346 (GRCm39) I832T probably damaging Het
Mapk15 T C 15: 75,870,697 (GRCm39) S512P possibly damaging Het
Mybpc2 A T 7: 44,171,149 (GRCm39) I134N possibly damaging Het
Myh4 A G 11: 67,150,000 (GRCm39) E1853G probably damaging Het
Ncoa3 T C 2: 165,897,279 (GRCm39) V690A probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or5b97 A G 19: 12,878,991 (GRCm39) V51A probably benign Het
Pacsin2 A T 15: 83,269,313 (GRCm39) probably benign Het
Piezo2 A T 18: 63,155,596 (GRCm39) L2416Q probably damaging Het
Pip5k1c T A 10: 81,144,858 (GRCm39) I233N probably damaging Het
Ptcd3 T C 6: 71,865,631 (GRCm39) D428G probably damaging Het
Ptprf T C 4: 118,126,501 (GRCm39) D84G possibly damaging Het
Rasgrf2 T C 13: 92,120,359 (GRCm39) D798G probably benign Het
Setd7 A G 3: 51,450,097 (GRCm39) Y110H probably damaging Het
Sgta T C 10: 80,887,081 (GRCm39) I61M possibly damaging Het
Shank1 A G 7: 44,006,376 (GRCm39) D2031G possibly damaging Het
Skint5 A G 4: 113,799,864 (GRCm39) Y88H probably damaging Het
Spata31f1a A T 4: 42,851,696 (GRCm39) D153E probably benign Het
Stox1 T C 10: 62,499,945 (GRCm39) I872V probably benign Het
Tmc4 A G 7: 3,674,025 (GRCm39) F385L probably benign Het
Top3a A G 11: 60,646,838 (GRCm39) F258L probably damaging Het
Ttn T C 2: 76,780,499 (GRCm39) Y1084C probably damaging Het
Ubtf A T 11: 102,199,528 (GRCm39) Y504* probably null Het
Wdfy3 T C 5: 102,036,125 (GRCm39) T2098A probably damaging Het
Wnk2 G T 13: 49,214,964 (GRCm39) T1194K possibly damaging Het
Zbtb40 T A 4: 136,725,879 (GRCm39) E560V probably benign 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
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
R5279:AW554918 UTSW 18 25,308,488 (GRCm39) missense possibly damaging 0.95
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'- AAGTGGAGCTTATGTTCATGAGAAC -3'
(R):5'- TTCTCTAGCAAGTCAAGGTGC -3'

Sequencing Primer
(F):5'- TGAGAACTATCACCCTACAAACATGG -3'
(R):5'- CAAGTCAAGGTGCTGAAAAATCTC -3'
Posted On 2014-11-11