Incidental Mutation 'R0673:Harbi1'
ID61504
Institutional Source Beutler Lab
Gene Symbol Harbi1
Ensembl Gene ENSMUSG00000027243
Gene Nameharbinger transposase derived 1
Synonyms
MMRRC Submission 038858-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #R0673 (G1)
Quality Score86
Status Not validated
Chromosome2
Chromosomal Location91710852-91721545 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 91712535 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 114 (R114W)
Ref Sequence ENSEMBL: ENSMUSP00000121420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028678] [ENSMUST00000076803] [ENSMUST00000090608] [ENSMUST00000111322] [ENSMUST00000128140] [ENSMUST00000140183] [ENSMUST00000142692]
Predicted Effect probably benign
Transcript: ENSMUST00000028678
SMART Domains Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244

DomainStartEndE-ValueType
Pfam:ATG13 77 195 1.5e-10 PFAM
low complexity region 252 269 N/A INTRINSIC
low complexity region 423 442 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076803
SMART Domains Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244

DomainStartEndE-ValueType
Pfam:ATG13 17 195 1.1e-35 PFAM
low complexity region 386 405 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000090608
AA Change: R114W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088098
Gene: ENSMUSG00000027243
AA Change: R114W

DomainStartEndE-ValueType
Pfam:Plant_tran 122 309 6.6e-8 PFAM
Pfam:DDE_Tnp_4 148 300 1.7e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111322
AA Change: R114W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106954
Gene: ENSMUSG00000027243
AA Change: R114W

DomainStartEndE-ValueType
Pfam:DDE_Tnp_4 148 226 1.5e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122236
Predicted Effect probably benign
Transcript: ENSMUST00000128140
Predicted Effect probably damaging
Transcript: ENSMUST00000140183
AA Change: R114W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000142692
AA Change: R114W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121420
Gene: ENSMUSG00000027243
AA Change: R114W

DomainStartEndE-ValueType
Pfam:DDE_Tnp_4 148 234 1.1e-17 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik C T 17: 45,733,073 W86* probably null Het
2700049A03Rik C T 12: 71,177,868 P894S probably damaging Het
Adgrg7 A T 16: 56,773,486 N122K possibly damaging Het
Ankrd13d A T 19: 4,273,019 probably null Het
Blm A T 7: 80,499,751 probably null Het
Caml C T 13: 55,631,828 T238M probably damaging Het
Casd1 T A 6: 4,624,440 V411D possibly damaging Het
Cdc25b A G 2: 131,197,262 N516D probably benign Het
Cmya5 A G 13: 93,089,997 I2861T probably damaging Het
Csmd3 A G 15: 47,913,940 L1294P probably damaging Het
Cxxc1 A G 18: 74,218,913 D287G possibly damaging Het
Dgkq T C 5: 108,655,589 H217R probably damaging Het
Disp2 A T 2: 118,790,844 I686F possibly damaging Het
Dnah6 T A 6: 73,123,811 N2003I probably benign Het
Dsc3 T A 18: 19,989,590 R92S probably damaging Het
Ei24 T G 9: 36,788,255 probably null Het
Fgl1 G T 8: 41,191,624 T281K probably benign Het
Gbp3 A G 3: 142,565,254 T140A probably benign Het
Gtpbp3 A T 8: 71,492,735 I485F probably damaging Het
Inmt A C 6: 55,171,227 V139G probably damaging Het
Inpp5j T A 11: 3,501,147 M501L probably benign Het
Jmjd1c A G 10: 67,226,809 N1647S probably damaging Het
Lgals9 A G 11: 78,965,853 F252L probably damaging Het
Lingo3 C A 10: 80,835,784 R104L probably benign Het
Lrrc8c G A 5: 105,607,678 V440M probably damaging Het
Mybpc3 G A 2: 91,120,427 G36D probably damaging Het
Ncapd3 T A 9: 27,087,477 N1254K probably benign Het
Neb A G 2: 52,256,124 V2947A possibly damaging Het
Nudt12 A T 17: 59,007,622 probably null Het
Olfr140 A C 2: 90,052,252 M24R probably benign Het
Olfr167 A G 16: 19,515,396 M80T probably damaging Het
Otop1 T C 5: 38,287,948 V150A possibly damaging Het
Prr14l C T 5: 32,828,915 D1079N probably benign Het
Rasal1 A G 5: 120,670,384 T494A probably benign Het
Sacs A G 14: 61,210,215 K3237E possibly damaging Het
Sh3d19 T C 3: 86,106,973 S415P probably benign Het
Sypl A T 12: 32,965,421 T40S probably damaging Het
Tg A T 15: 66,741,484 probably null Het
Tmed8 A G 12: 87,174,104 V236A probably damaging Het
Vmn1r33 T C 6: 66,611,799 Y257C probably damaging Het
Yme1l1 T C 2: 23,168,288 F144S probably benign Het
Other mutations in Harbi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Harbi1 APN 2 91712626 missense probably damaging 1.00
R0670:Harbi1 UTSW 2 91712535 missense probably damaging 1.00
R3788:Harbi1 UTSW 2 91720607 missense probably benign 0.10
R4296:Harbi1 UTSW 2 91712755 missense possibly damaging 0.49
R6545:Harbi1 UTSW 2 91712295 missense probably damaging 0.99
R7207:Harbi1 UTSW 2 91712445 missense probably damaging 1.00
R7324:Harbi1 UTSW 2 91720699 missense probably benign 0.16
R7728:Harbi1 UTSW 2 91712281 missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- GAGGACCTCCACATTAGCAATGGC -3'
(R):5'- CAGGCAGTTTAGAGAATGCAGACCC -3'

Sequencing Primer
(F):5'- GTGACTGACGAATACTTGATGTCC -3'
(R):5'- TTAGAGAATGCAGACCCTTTCGG -3'
Posted On2013-07-30