Incidental Mutation 'R8358:AW551984'
ID 645868
Institutional Source Beutler Lab
Gene Symbol AW551984
Ensembl Gene ENSMUSG00000038112
Gene Name expressed sequence AW551984
Synonyms
MMRRC Submission 067871-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R8358 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 39498692-39515699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39510651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 228 (V228A)
Ref Sequence ENSEMBL: ENSMUSP00000042582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722] [ENSMUST00000130829] [ENSMUST00000141370]
AlphaFold Q8BGF0
Predicted Effect probably damaging
Transcript: ENSMUST00000042485
AA Change: V228A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: V228A

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119722
AA Change: V228A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: V228A

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130829
SMART Domains Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112

DomainStartEndE-ValueType
Pfam:VIT_2 5 52 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141370
SMART Domains Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,367,796 (GRCm39) S52P possibly damaging Het
Adamts19 G T 18: 59,181,881 (GRCm39) G1107C probably damaging Het
Afap1 A T 5: 36,131,830 (GRCm39) T386S probably benign Het
Alg12 T C 15: 88,695,503 (GRCm39) Y331C probably null Het
Aste1 T A 9: 105,274,255 (GRCm39) I165N probably damaging Het
Atp13a5 A G 16: 29,167,805 (GRCm39) I118T probably damaging Het
Cachd1 A G 4: 100,816,668 (GRCm39) Y357C possibly damaging Het
Cacul1 T A 19: 60,551,673 (GRCm39) H183L possibly damaging Het
Casp16 T A 17: 23,772,348 (GRCm39) I39F probably damaging Het
Chd7 G T 4: 8,839,529 (GRCm39) C1355F probably damaging Het
Csnk1a1 A G 18: 61,713,610 (GRCm39) probably null Het
Ctif G A 18: 75,698,115 (GRCm39) H182Y possibly damaging Het
Cubn C T 2: 13,329,971 (GRCm39) V2637I probably benign Het
Dlx1 T A 2: 71,360,652 (GRCm39) probably null Het
Dsp A G 13: 38,376,457 (GRCm39) N1414S possibly damaging Het
Erich6 A T 3: 58,544,449 (GRCm39) L46* probably null Het
Fcho2 G A 13: 98,862,282 (GRCm39) R804* probably null Het
Gas7 T A 11: 67,543,734 (GRCm39) I114N probably benign Het
Gpr137b T C 13: 13,533,929 (GRCm39) T376A probably benign Het
H2-T24 T C 17: 36,328,229 (GRCm39) M85V probably benign Het
Klk1b16 T A 7: 43,790,185 (GRCm39) C152S probably damaging Het
Lrrc31 G A 3: 30,753,932 (GRCm39) probably benign Het
Magt1 C T X: 105,040,501 (GRCm39) A100T probably benign Het
Mki67 T C 7: 135,301,855 (GRCm39) K1060E possibly damaging Het
Nif3l1 A T 1: 58,491,288 (GRCm39) T213S probably benign Het
Oasl1 T A 5: 115,075,465 (GRCm39) F508L probably benign Het
Or10ak8 A T 4: 118,773,723 (GRCm39) *314R probably null Het
Or2a25 T C 6: 42,888,976 (GRCm39) V173A possibly damaging Het
Or4a80 C T 2: 89,582,423 (GRCm39) V250I probably benign Het
Or5b122 T C 19: 13,562,764 (GRCm39) L32P probably damaging Het
Psg23 T C 7: 18,348,522 (GRCm39) D95G probably benign Het
Ptprr T C 10: 115,884,180 (GRCm39) I79T probably benign Het
Resf1 C T 6: 149,228,076 (GRCm39) T374I probably damaging Het
Rhbg T A 3: 88,152,525 (GRCm39) N340Y probably damaging Het
Sash1 C A 10: 8,605,745 (GRCm39) V882L probably benign Het
Sharpin C T 15: 76,232,197 (GRCm39) V220I probably damaging Het
Slc22a22 T A 15: 57,108,243 (GRCm39) D524V probably damaging Het
Slc43a3 T C 2: 84,780,860 (GRCm39) Y362H probably benign Het
Slc4a3 T A 1: 75,530,359 (GRCm39) D687E probably damaging Het
Slco1a5 A G 6: 142,208,411 (GRCm39) S127P probably benign Het
Spg11 T C 2: 121,910,739 (GRCm39) I1213V possibly damaging Het
Synj2 T A 17: 6,074,080 (GRCm39) Y813* probably null Het
Tbc1d10a T C 11: 4,155,837 (GRCm39) M131T probably damaging Het
Tnfrsf19 C A 14: 61,208,634 (GRCm39) V296F probably benign Het
Trim45 T C 3: 100,834,634 (GRCm39) V439A probably damaging Het
Trim54 A G 5: 31,294,338 (GRCm39) T325A probably benign Het
Usp40 T C 1: 87,908,770 (GRCm39) E577G possibly damaging Het
Uts2r T A 11: 121,051,345 (GRCm39) Y70N probably damaging Het
Vmn1r72 T G 7: 11,404,310 (GRCm39) D46A probably damaging Het
Zfc3h1 T C 10: 115,240,198 (GRCm39) V577A probably benign Het
Zfp987 T G 4: 146,061,343 (GRCm39) H258Q probably damaging Het
Other mutations in AW551984
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:AW551984 APN 9 39,504,145 (GRCm39) missense probably benign 0.16
IGL00869:AW551984 APN 9 39,504,730 (GRCm39) splice site probably benign
IGL01411:AW551984 APN 9 39,505,087 (GRCm39) missense possibly damaging 0.69
IGL01744:AW551984 APN 9 39,502,568 (GRCm39) missense probably benign 0.01
IGL02102:AW551984 APN 9 39,500,987 (GRCm39) missense probably damaging 1.00
IGL02149:AW551984 APN 9 39,504,220 (GRCm39) missense probably benign 0.06
IGL02151:AW551984 APN 9 39,504,241 (GRCm39) missense probably benign 0.35
IGL02154:AW551984 APN 9 39,500,398 (GRCm39) missense possibly damaging 0.93
IGL02158:AW551984 APN 9 39,510,621 (GRCm39) missense probably null 0.99
IGL02574:AW551984 APN 9 39,500,382 (GRCm39) missense possibly damaging 0.91
IGL02754:AW551984 APN 9 39,504,624 (GRCm39) critical splice donor site probably null
IGL02754:AW551984 APN 9 39,507,922 (GRCm39) nonsense probably null
IGL02838:AW551984 APN 9 39,505,939 (GRCm39) missense probably damaging 1.00
IGL03240:AW551984 APN 9 39,500,418 (GRCm39) missense probably benign 0.00
IGL03328:AW551984 APN 9 39,508,412 (GRCm39) missense probably damaging 1.00
IGL03374:AW551984 APN 9 39,511,062 (GRCm39) missense possibly damaging 0.52
PIT4260001:AW551984 UTSW 9 39,504,275 (GRCm39) missense probably benign 0.08
R0141:AW551984 UTSW 9 39,501,940 (GRCm39) missense probably damaging 1.00
R0269:AW551984 UTSW 9 39,511,246 (GRCm39) missense probably damaging 1.00
R0365:AW551984 UTSW 9 39,510,617 (GRCm39) missense probably benign 0.14
R0453:AW551984 UTSW 9 39,511,937 (GRCm39) missense probably damaging 1.00
R0481:AW551984 UTSW 9 39,511,912 (GRCm39) missense probably null 1.00
R1005:AW551984 UTSW 9 39,505,029 (GRCm39) nonsense probably null
R1585:AW551984 UTSW 9 39,510,632 (GRCm39) nonsense probably null
R2177:AW551984 UTSW 9 39,511,111 (GRCm39) missense probably benign
R3117:AW551984 UTSW 9 39,504,656 (GRCm39) missense probably benign 0.08
R3119:AW551984 UTSW 9 39,504,656 (GRCm39) missense probably benign 0.08
R3162:AW551984 UTSW 9 39,504,325 (GRCm39) missense probably damaging 1.00
R3162:AW551984 UTSW 9 39,504,325 (GRCm39) missense probably damaging 1.00
R3836:AW551984 UTSW 9 39,509,204 (GRCm39) unclassified probably benign
R3837:AW551984 UTSW 9 39,509,204 (GRCm39) unclassified probably benign
R3839:AW551984 UTSW 9 39,509,204 (GRCm39) unclassified probably benign
R4299:AW551984 UTSW 9 39,504,275 (GRCm39) missense probably benign 0.08
R4422:AW551984 UTSW 9 39,511,373 (GRCm39) missense probably null 0.00
R4713:AW551984 UTSW 9 39,508,449 (GRCm39) missense probably benign 0.13
R4905:AW551984 UTSW 9 39,508,454 (GRCm39) missense probably damaging 0.99
R4966:AW551984 UTSW 9 39,508,472 (GRCm39) missense possibly damaging 0.92
R5022:AW551984 UTSW 9 39,509,261 (GRCm39) missense probably benign 0.00
R5041:AW551984 UTSW 9 39,511,894 (GRCm39) missense probably damaging 1.00
R5342:AW551984 UTSW 9 39,505,847 (GRCm39) missense probably damaging 1.00
R5383:AW551984 UTSW 9 39,501,994 (GRCm39) missense probably benign
R5443:AW551984 UTSW 9 39,509,325 (GRCm39) missense possibly damaging 0.94
R5532:AW551984 UTSW 9 39,508,481 (GRCm39) missense probably damaging 1.00
R5536:AW551984 UTSW 9 39,504,169 (GRCm39) missense probably benign 0.04
R5586:AW551984 UTSW 9 39,502,559 (GRCm39) missense probably benign 0.01
R5601:AW551984 UTSW 9 39,502,563 (GRCm39) missense possibly damaging 0.87
R5618:AW551984 UTSW 9 39,502,000 (GRCm39) missense probably damaging 1.00
R5701:AW551984 UTSW 9 39,504,118 (GRCm39) missense probably benign 0.01
R6122:AW551984 UTSW 9 39,505,051 (GRCm39) missense probably benign 0.00
R6142:AW551984 UTSW 9 39,508,410 (GRCm39) missense probably benign 0.00
R6272:AW551984 UTSW 9 39,509,333 (GRCm39) missense probably benign 0.06
R6429:AW551984 UTSW 9 39,511,910 (GRCm39) missense probably damaging 1.00
R6659:AW551984 UTSW 9 39,500,395 (GRCm39) missense probably benign 0.00
R6670:AW551984 UTSW 9 39,504,292 (GRCm39) missense probably damaging 1.00
R6791:AW551984 UTSW 9 39,511,955 (GRCm39) missense probably damaging 1.00
R7000:AW551984 UTSW 9 39,512,085 (GRCm39) missense probably benign 0.11
R7077:AW551984 UTSW 9 39,502,723 (GRCm39) missense probably benign
R7083:AW551984 UTSW 9 39,508,943 (GRCm39) missense probably damaging 1.00
R7352:AW551984 UTSW 9 39,504,221 (GRCm39) missense probably benign
R7475:AW551984 UTSW 9 39,509,236 (GRCm39) missense probably damaging 1.00
R7534:AW551984 UTSW 9 39,502,777 (GRCm39) missense probably benign 0.03
R7542:AW551984 UTSW 9 39,505,927 (GRCm39) missense possibly damaging 0.95
R7708:AW551984 UTSW 9 39,505,051 (GRCm39) missense probably benign 0.00
R7729:AW551984 UTSW 9 39,511,071 (GRCm39) missense possibly damaging 0.89
R7955:AW551984 UTSW 9 39,507,960 (GRCm39) missense probably damaging 1.00
R8122:AW551984 UTSW 9 39,510,665 (GRCm39) missense probably damaging 1.00
R8402:AW551984 UTSW 9 39,508,949 (GRCm39) missense probably damaging 1.00
R8683:AW551984 UTSW 9 39,511,005 (GRCm39) missense possibly damaging 0.86
R8810:AW551984 UTSW 9 39,511,307 (GRCm39) missense probably damaging 1.00
R8857:AW551984 UTSW 9 39,511,831 (GRCm39) missense probably damaging 1.00
R8871:AW551984 UTSW 9 39,500,998 (GRCm39) nonsense probably null
R9019:AW551984 UTSW 9 39,508,973 (GRCm39) nonsense probably null
Z1088:AW551984 UTSW 9 39,501,899 (GRCm39) nonsense probably null
ZE80:AW551984 UTSW 9 39,504,963 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TGAGGACCTTCAGTATTTCAGAC -3'
(R):5'- GGATCCTCCACACTTTCTGAGC -3'

Sequencing Primer
(F):5'- AGGACCTTCAGTATTTCAGACTGTTG -3'
(R):5'- GATCCTCCACACTTTCTGAGCTACTG -3'
Posted On 2020-09-02