Incidental Mutation 'R1052:AW554918'
ID 94091
Institutional Source Beutler Lab
Gene Symbol AW554918
Ensembl Gene ENSMUSG00000033632
Gene Name expressed sequence AW554918
Synonyms
MMRRC Submission 039142-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R1052 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 25302056-25600378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25553067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 287 (M287I)
Ref Sequence ENSEMBL: ENSMUSP00000097708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000100131] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]
AlphaFold Q6NZK5
Predicted Effect probably benign
Transcript: ENSMUST00000036619
AA Change: M490I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632
AA Change: M490I

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.4e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097643
AA Change: M523I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632
AA Change: M523I

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 2.5e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100131
AA Change: M287I

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097708
Gene: ENSMUSG00000033632
AA Change: M287I

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: M523I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632
AA Change: M523I

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.6e-160 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,535,417 (GRCm39) Y528F possibly damaging Het
Acad10 G A 5: 121,787,604 (GRCm39) T115I possibly damaging Het
Adam19 T C 11: 46,018,092 (GRCm39) F385L probably damaging Het
Adgb T C 10: 10,318,357 (GRCm39) N162D probably benign Het
Arhgap20 C A 9: 51,757,570 (GRCm39) P521T probably damaging Het
Arsa A T 15: 89,359,380 (GRCm39) L134Q probably damaging Het
Atp5f1b A G 10: 127,925,921 (GRCm39) Y508C probably damaging Het
Bmp4 T C 14: 46,621,360 (GRCm39) K395E probably damaging Het
Cacna2d4 A G 6: 119,277,294 (GRCm39) Y669C probably damaging Het
Casq2 T C 3: 102,051,550 (GRCm39) probably null Het
Cdk5rap1 A T 2: 154,202,519 (GRCm39) I237N possibly damaging Het
Cerk G C 15: 86,033,565 (GRCm39) S286C possibly damaging Het
Cir1 A C 2: 73,117,987 (GRCm39) L186R probably damaging Het
Csf3r A T 4: 125,936,781 (GRCm39) probably null Het
Cyp3a41a A T 5: 145,642,621 (GRCm39) I246K possibly damaging Het
Cyp8b1 A G 9: 121,744,348 (GRCm39) F328S possibly damaging Het
Dzank1 A T 2: 144,355,365 (GRCm39) V110D probably benign Het
Gm6729 T A 10: 86,376,799 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,604,246 (GRCm39) F246L probably benign Het
Gnpat T A 8: 125,605,255 (GRCm39) L248H probably damaging Het
Gstm7 T C 3: 107,834,266 (GRCm39) T163A probably benign Het
Hspa5 A G 2: 34,665,110 (GRCm39) T424A probably damaging Het
Itgb1 T G 8: 129,439,786 (GRCm39) D158E probably damaging Het
Kif21a A G 15: 90,819,853 (GRCm39) V1637A probably benign Het
Kl G T 5: 150,905,985 (GRCm39) V452F probably damaging Het
Krt23 T C 11: 99,369,045 (GRCm39) N416S probably benign Het
Lama4 A T 10: 38,968,241 (GRCm39) H1461L possibly damaging Het
Lamc3 A G 2: 31,818,814 (GRCm39) T1180A probably benign Het
Mboat2 T C 12: 24,996,527 (GRCm39) Y145H probably damaging Het
Mlxipl T A 5: 135,142,564 (GRCm39) I126N probably damaging Het
Myo16 T A 8: 10,620,181 (GRCm39) N1577K possibly damaging Het
Nlrp4f A G 13: 65,332,897 (GRCm39) V87A possibly damaging Het
Or5al5 A G 2: 85,961,915 (GRCm39) F31L probably benign Het
Or6p1 A T 1: 174,258,701 (GRCm39) K236* probably null Het
Pask A T 1: 93,258,549 (GRCm39) D266E probably benign Het
Pcdhb17 A G 18: 37,619,899 (GRCm39) Y563C probably damaging Het
Pdlim3 T A 8: 46,349,837 (GRCm39) I49N probably damaging Het
Pla2g4c T A 7: 13,077,334 (GRCm39) V292E possibly damaging Het
Pramel23 T C 4: 143,423,477 (GRCm39) I437M possibly damaging Het
Prrt4 G T 6: 29,169,813 (GRCm39) Q880K possibly damaging Het
Pygb A G 2: 150,628,858 (GRCm39) D24G probably benign Het
R3hcc1l T A 19: 42,552,093 (GRCm39) D363E probably damaging Het
Rif1 A C 2: 52,001,574 (GRCm39) Q1676P probably benign Het
Ryr1 C A 7: 28,795,683 (GRCm39) R1069L probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc2a13 A G 15: 91,296,363 (GRCm39) V317A probably damaging Het
Slc35b4 A T 6: 34,138,619 (GRCm39) F197I probably damaging Het
Tchhl1 G A 3: 93,377,520 (GRCm39) V75I probably benign Het
Ubr4 T C 4: 139,182,771 (GRCm39) S3521P possibly damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp335 GTCCTCCTCCTCCTCCTC GTCCTCCTCCTCCTC 2: 164,749,388 (GRCm39) probably benign Het
Zfp874a T G 13: 67,590,539 (GRCm39) I382L 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
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
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'- GGGCATTTTCATAGCGAACCCAAATC -3'
(R):5'- GCTGCTAAGCAGAGTTTCTGTGGAC -3'

Sequencing Primer
(F):5'- TTAAGTAAGGCGATGTGAATCACTG -3'
(R):5'- CTATGGAAATCCTTGTCAACTGTC -3'
Posted On 2014-01-05