Incidental Mutation 'R6929:Ankub1'
ID539889
Institutional Source Beutler Lab
Gene Symbol Ankub1
Ensembl Gene ENSMUSG00000074591
Gene Nameankrin repeat and ubiquitin domain containing 1
SynonymsGm410, LOC242037
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6929 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location57657393-57692799 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 57665433 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 289 (C289*)
Ref Sequence ENSEMBL: ENSMUSP00000142589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099091] [ENSMUST00000197088] [ENSMUST00000200665]
Predicted Effect probably benign
Transcript: ENSMUST00000099091
SMART Domains Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591

DomainStartEndE-ValueType
Blast:UBQ 1 78 3e-41 BLAST
SCOP:d1euvb_ 1 78 3e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000197088
AA Change: C289*
SMART Domains Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: C289*

DomainStartEndE-ValueType
Blast:UBQ 1 78 5e-40 BLAST
ANK 191 220 6.7e-2 SMART
Blast:ANK 239 268 5e-12 BLAST
ANK 273 303 2.6e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200665
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 92% (35/38)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 27,006,263 R1223* probably null Het
Adgrb3 A T 1: 25,111,771 L1127* probably null Het
Ankrd17 A T 5: 90,285,525 V727D possibly damaging Het
C2 T A 17: 34,864,347 I242F possibly damaging Het
C2cd3 T C 7: 100,451,619 L653P probably damaging Het
Cacna1b A G 2: 24,632,010 V1696A probably damaging Het
Cep295 A G 9: 15,333,062 I1366T probably damaging Het
Chd9 T C 8: 91,042,945 L2553P probably damaging Het
Cited4 C A 4: 120,667,047 T82K probably benign Het
Dnah6 A T 6: 73,044,773 M3470K probably damaging Het
Exosc3 G T 4: 45,320,482 P37Q probably damaging Het
Fam120b C A 17: 15,423,028 Q690K possibly damaging Het
Fyb T C 15: 6,638,907 I527T probably damaging Het
Gm32742 A G 9: 51,154,279 L459P probably benign Het
Gm45861 A G 8: 27,524,434 D655G unknown Het
Ifi203 A G 1: 173,928,774 probably benign Het
Ifnar2 T A 16: 91,393,878 L93* probably null Het
Kdr A G 5: 75,978,104 V22A probably benign Het
Llgl1 C T 11: 60,710,353 Q706* probably null Het
Lrrc9 A T 12: 72,450,772 K121N probably benign Het
Lyst T C 13: 13,743,324 F3323S probably damaging Het
Mc4r A G 18: 66,859,182 Y287H probably damaging Het
Nlrp4e A C 7: 23,336,731 probably null Het
Olfr617 A T 7: 103,584,444 I141F probably damaging Het
Olfr901 A G 9: 38,431,148 I289V probably benign Het
Pear1 T A 3: 87,759,565 K38* probably null Het
Pik3c2g G A 6: 139,957,776 R585Q possibly damaging Het
Prpf40a A G 2: 53,144,863 V771A possibly damaging Het
Rnd3 G T 2: 51,137,175 D103E probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 127,021,626 probably benign Het
Spats2l A T 1: 57,879,536 N43I probably damaging Het
Tmem202 C A 9: 59,519,221 G221C probably benign Het
Ubiad1 T C 4: 148,444,122 D110G probably damaging Het
Ulk4 A T 9: 121,074,015 V1132D probably benign Het
Vmn2r118 C T 17: 55,610,440 M357I probably benign Het
Zfp663 G C 2: 165,353,258 P347R probably benign Het
Other mutations in Ankub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Ankub1 APN 3 57690396 missense possibly damaging 0.93
IGL03137:Ankub1 APN 3 57690357 missense probably damaging 1.00
R0506:Ankub1 UTSW 3 57690375 missense probably damaging 0.97
R0892:Ankub1 UTSW 3 57690379 missense probably benign 0.24
R2073:Ankub1 UTSW 3 57692292 missense possibly damaging 0.68
R2104:Ankub1 UTSW 3 57672875 nonsense probably null
R4869:Ankub1 UTSW 3 57690330 missense probably damaging 1.00
R5714:Ankub1 UTSW 3 57672837 missense probably benign 0.41
R6229:Ankub1 UTSW 3 57665107 missense probably benign 0.00
R7086:Ankub1 UTSW 3 57690325 missense probably damaging 0.99
R7200:Ankub1 UTSW 3 57672985 missense probably benign 0.00
R7290:Ankub1 UTSW 3 57672924 missense probably damaging 1.00
R7305:Ankub1 UTSW 3 57692517 start gained probably benign
R7336:Ankub1 UTSW 3 57665687 missense probably benign 0.00
R7407:Ankub1 UTSW 3 57665203 missense probably benign
R7566:Ankub1 UTSW 3 57665618 nonsense probably null
R7569:Ankub1 UTSW 3 57665618 nonsense probably null
R7872:Ankub1 UTSW 3 57665386 missense probably damaging 1.00
R8177:Ankub1 UTSW 3 57690416 missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- ATCTTGGGCTTGGTGAAACC -3'
(R):5'- TTCACCCTTATCGAGCATGGTG -3'

Sequencing Primer
(F):5'- TGGTGAAACCATCAACCATCACG -3'
(R):5'- TTATCGAGCATGGTGCCACG -3'
Posted On2018-11-06