Incidental Mutation 'R8714:Asb17'
ID669753
Institutional Source Beutler Lab
Gene Symbol Asb17
Ensembl Gene ENSMUSG00000038997
Gene Nameankyrin repeat and SOCS box-containing 17
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R8714 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location153844209-153855082 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153850676 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 140 (Y140C)
Ref Sequence ENSEMBL: ENSMUSP00000041293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044089] [ENSMUST00000198849]
Predicted Effect probably damaging
Transcript: ENSMUST00000044089
AA Change: Y140C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041293
Gene: ENSMUSG00000038997
AA Change: Y140C

DomainStartEndE-ValueType
ANK 93 123 3.81e2 SMART
ANK 146 176 2.83e0 SMART
SOCS_box 253 294 9.96e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198849
SMART Domains Protein: ENSMUSP00000142678
Gene: ENSMUSG00000038997

DomainStartEndE-ValueType
Blast:ANK 93 123 3e-14 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,242,896 A137T probably benign Het
4930474N05Rik T A 14: 36,096,499 C151* probably null Het
Abca4 A G 3: 122,148,879 T1674A probably benign Het
Acat3 A T 17: 12,928,629 V167E probably benign Het
Alb T C 5: 90,461,015 probably null Het
Apol9a T C 15: 77,404,742 T142A probably benign Het
Asb14 C T 14: 26,901,075 P135S possibly damaging Het
Atp4a T A 7: 30,720,588 I750N probably damaging Het
Bard1 T C 1: 71,030,827 Y664C probably damaging Het
Cacnb3 G A 15: 98,632,381 probably benign Het
Card11 T A 5: 140,913,392 D9V possibly damaging Het
Casp8 A T 1: 58,833,653 Q229H possibly damaging Het
Ccdc88b T C 19: 6,855,845 E278G probably damaging Het
Cd209d CAT C 8: 3,873,772 probably null Het
Cep350 T C 1: 155,860,731 D2853G probably damaging Het
Cfap161 T C 7: 83,793,274 I110M probably benign Het
Chid1 T A 7: 141,513,765 K313* probably null Het
Col16a1 T A 4: 130,054,168 I227N unknown Het
D3Ertd751e G T 3: 41,746,563 E6* probably null Het
Ddx41 T C 13: 55,534,437 Q208R probably damaging Het
Dhrs13 G C 11: 78,032,666 R70P possibly damaging Het
Dmrta1 A T 4: 89,691,445 Q214L probably benign Het
Eif2ak4 T C 2: 118,462,284 F1330L possibly damaging Het
Fbxw13 C T 9: 109,194,764 V71I probably benign Het
Gm8882 G A 6: 132,364,088 T7I unknown Het
H2-Q2 T C 17: 35,343,362 L195P possibly damaging Het
Hemgn C T 4: 46,395,904 G444D probably damaging Het
Lmtk2 A G 5: 144,176,058 T1199A probably damaging Het
Ly75 T C 2: 60,334,485 D783G probably damaging Het
Micall1 G A 15: 79,127,310 A627T probably benign Het
Morc2a C T 11: 3,675,877 T159I probably benign Het
Mthfr C A 4: 148,041,818 N115K probably damaging Het
Muc1 G A 3: 89,231,514 V477M possibly damaging Het
Mug1 C T 6: 121,882,722 P1227S probably benign Het
Ogfod3 T A 11: 121,196,782 D163V possibly damaging Het
Olfr644 T A 7: 104,068,276 I252F probably damaging Het
Pcnx2 C T 8: 125,773,807 V1515I probably benign Het
Plat G T 8: 22,772,232 G91W probably damaging Het
Plscr3 G T 11: 69,848,012 G167C probably benign Het
Plxna4 T A 6: 32,163,444 K1670* probably null Het
Rab7 T C 6: 88,012,387 S34G probably damaging Het
Rnf157 C A 11: 116,347,065 A577S probably benign Het
Rnf213 C T 11: 119,468,894 S4371L Het
S1pr1 A T 3: 115,711,821 S375T probably benign Het
Spen T C 4: 141,488,003 N506S unknown Het
Sulf1 T A 1: 12,807,917 Y210N probably benign Het
Tenm4 C T 7: 96,905,941 P2618S probably benign Het
Tg A G 15: 66,684,042 N861S probably damaging Het
Ttc29 A G 8: 78,333,702 E417G possibly damaging Het
Tyw1 G A 5: 130,269,224 R202Q probably damaging Het
Ubxn7 T A 16: 32,367,411 probably benign Het
Vmn1r62 C A 7: 5,675,630 Y103* probably null Het
Zfp804b A T 5: 6,772,378 Y228* probably null Het
Other mutations in Asb17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0078:Asb17 UTSW 3 153844664 missense probably damaging 1.00
R0761:Asb17 UTSW 3 153844415 missense probably damaging 1.00
R1543:Asb17 UTSW 3 153844511 missense probably damaging 1.00
R1557:Asb17 UTSW 3 153850933 missense probably benign 0.01
R1562:Asb17 UTSW 3 153853506 missense probably benign 0.01
R1678:Asb17 UTSW 3 153844367 missense probably damaging 1.00
R1911:Asb17 UTSW 3 153844501 missense probably benign 0.00
R2155:Asb17 UTSW 3 153844685 missense probably damaging 1.00
R4934:Asb17 UTSW 3 153850699 missense possibly damaging 0.60
R5032:Asb17 UTSW 3 153844538 missense probably damaging 1.00
R6597:Asb17 UTSW 3 153844684 missense probably damaging 1.00
R7404:Asb17 UTSW 3 153844810 splice site probably null
R8716:Asb17 UTSW 3 153853514 missense probably damaging 1.00
X0050:Asb17 UTSW 3 153850940 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTGCAGCGACTAAGTGCTTTG -3'
(R):5'- CATGTCTTGGCATCTTCTTGAATG -3'

Sequencing Primer
(F):5'- GCGACTAAGTGCTTTGCCCATG -3'
(R):5'- TGTCAATCAACTCGTGGTCAAC -3'
Posted On2021-04-30