Incidental Mutation 'R7259:AW554918'
ID 574713
Institutional Source Beutler Lab
Gene Symbol AW554918
Ensembl Gene ENSMUSG00000033632
Gene Name expressed sequence AW554918
Synonyms
MMRRC Submission 045351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7259 (G1)
Quality Score 105.008
Status Validated
Chromosome 18
Chromosomal Location 25302056-25600378 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 25422906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000100131] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]
AlphaFold Q6NZK5
Predicted Effect probably null
Transcript: ENSMUST00000036619
SMART Domains Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.4e-154 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097643
SMART Domains Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 2.5e-154 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000100131
SMART Domains Protein: ENSMUSP00000097708
Gene: ENSMUSG00000033632

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
SMART Domains Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.6e-160 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,620,288 (GRCm39) Y258C probably benign Het
Aebp2 A G 6: 140,579,494 (GRCm39) S244G probably benign Het
Agl A T 3: 116,578,230 (GRCm39) Y495N probably damaging Het
Arhgap33 A G 7: 30,231,625 (GRCm39) V120A probably damaging Het
Asb14 C T 14: 26,625,412 (GRCm39) H256Y probably benign Het
Atp2a2 A G 5: 122,604,132 (GRCm39) Y434H probably benign Het
Atrnl1 C T 19: 57,924,038 (GRCm39) R1268* probably null Het
Canx A G 11: 50,192,643 (GRCm39) W324R probably damaging Het
Col9a1 A G 1: 24,224,424 (GRCm39) E202G unknown Het
Crh C A 3: 19,748,418 (GRCm39) A75S possibly damaging Het
Ctnnal1 T A 4: 56,817,299 (GRCm39) probably null Het
Dmrta2 T A 4: 109,839,104 (GRCm39) S284T possibly damaging Het
Dock1 T C 7: 134,384,477 (GRCm39) V680A probably damaging Het
Duox2 G A 2: 122,125,657 (GRCm39) R317C probably damaging Het
Elmod2 A G 8: 84,048,138 (GRCm39) L108P probably damaging Het
Exoc6b A G 6: 84,825,792 (GRCm39) S540P probably benign Het
Fsip2 C T 2: 82,812,474 (GRCm39) A2931V possibly damaging Het
Gipc2 A T 3: 151,833,693 (GRCm39) I196K probably damaging Het
Gli2 A G 1: 118,764,264 (GRCm39) S1296P probably benign Het
Gm21103 T A 14: 17,482,882 (GRCm39) Q173L probably damaging Het
Gpatch1 A T 7: 34,986,546 (GRCm39) probably null Het
Grm8 G A 6: 27,760,175 (GRCm39) T385I probably null Het
Gtf2f1 C A 17: 57,311,562 (GRCm39) D283Y probably damaging Het
Hcar1 T A 5: 124,017,275 (GRCm39) T139S possibly damaging Het
Hcrtr1 T A 4: 130,029,611 (GRCm39) T157S possibly damaging Het
Htra2 T G 6: 83,028,520 (GRCm39) Q436P possibly damaging Het
Igkv1-133 A G 6: 67,702,522 (GRCm39) D80G probably benign Het
Il21 C A 3: 37,281,803 (GRCm39) probably null Het
Inpp5f T A 7: 128,271,681 (GRCm39) C359S probably benign Het
Itgb6 A T 2: 60,480,355 (GRCm39) I327N probably damaging Het
Itgbl1 A T 14: 124,081,316 (GRCm39) T232S probably damaging Het
Kif1a T A 1: 93,001,532 (GRCm39) K266* probably null Het
Mcm10 C A 2: 5,011,328 (GRCm39) E214D probably benign Het
Mefv T A 16: 3,530,917 (GRCm39) I522F probably damaging Het
Naaladl2 T A 3: 24,112,340 (GRCm39) I581F possibly damaging Het
Naip6 A T 13: 100,440,863 (GRCm39) Y306N probably damaging Het
Opn1sw T A 6: 29,378,911 (GRCm39) H247L probably benign Het
Or4c119 A C 2: 88,986,854 (GRCm39) F222V probably benign Het
Or51v15-ps1 A T 7: 103,278,966 (GRCm39) M67K probably damaging Het
Or5k1b T C 16: 58,580,868 (GRCm39) T224A possibly damaging Het
Or6c68 T A 10: 129,157,663 (GRCm39) M57K probably benign Het
Pbxip1 C A 3: 89,352,940 (GRCm39) F195L probably benign Het
Pcdh12 A T 18: 38,414,677 (GRCm39) F816Y probably benign Het
Pi4k2b C A 5: 52,910,587 (GRCm39) N290K probably damaging Het
Pias2 T C 18: 77,240,416 (GRCm39) S598P possibly damaging Het
Ppfia4 A G 1: 134,240,838 (GRCm39) V835A probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Scg2 T C 1: 79,414,702 (GRCm39) Y7C probably benign Het
Sec16a A G 2: 26,331,604 (GRCm39) V137A probably benign Het
Setdb1 G A 3: 95,247,224 (GRCm39) T525I probably benign Het
Sgcg A T 14: 61,462,666 (GRCm39) I227N probably benign Het
Slc35e4 A T 11: 3,862,530 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Stk10 A G 11: 32,548,497 (GRCm39) N355S probably benign Het
Supt6 A T 11: 78,098,442 (GRCm39) D1716E probably damaging Het
Taok3 C T 5: 117,390,608 (GRCm39) A523V probably benign Het
Tekt3 A G 11: 62,974,592 (GRCm39) T304A possibly damaging Het
Ttc6 G T 12: 57,622,970 (GRCm39) R123L probably benign Het
Tyw1 T A 5: 130,296,713 (GRCm39) probably null Het
Ulk2 A G 11: 61,672,909 (GRCm39) L895P probably damaging Het
Unc13c A T 9: 73,424,645 (GRCm39) N1990K probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wipf1 A G 2: 73,265,425 (GRCm39) S393P probably damaging Het
Yju2b T C 8: 84,986,946 (GRCm39) S184G probably 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
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
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'- CTGAATATTGATACTCCATCTCATTCA -3'
(R):5'- AAGCTTCTCTTGCTGCTCCG -3'

Sequencing Primer
(F):5'- GTCAACAGGATGTTTGAACCTCCAG -3'
(R):5'- CGATAGGTACTTCTGGTAGAGAC -3'
Posted On 2019-10-07