Incidental Mutation 'R4296:Harbi1'
ID 323296
Institutional Source Beutler Lab
Gene Symbol Harbi1
Ensembl Gene ENSMUSG00000027243
Gene Name harbinger transposase derived 1
Synonyms D230010M03Rik
MMRRC Submission 041656-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4296 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 91541197-91551890 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91543100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 187 (M187K)
Ref Sequence ENSEMBL: ENSMUSP00000121420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028678] [ENSMUST00000076803] [ENSMUST00000090608] [ENSMUST00000111322] [ENSMUST00000128140] [ENSMUST00000140183] [ENSMUST00000142692]
AlphaFold Q8BR93
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 possibly damaging
Transcript: ENSMUST00000090608
AA Change: M187K

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088098
Gene: ENSMUSG00000027243
AA Change: M187K

DomainStartEndE-ValueType
Pfam:Plant_tran 122 309 6.6e-8 PFAM
Pfam:DDE_Tnp_4 148 300 1.7e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111322
AA Change: M187K

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106954
Gene: ENSMUSG00000027243
AA Change: M187K

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 benign
Transcript: ENSMUST00000140183
Predicted Effect possibly damaging
Transcript: ENSMUST00000142692
AA Change: M187K

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121420
Gene: ENSMUSG00000027243
AA Change: M187K

DomainStartEndE-ValueType
Pfam:DDE_Tnp_4 148 234 1.1e-17 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G T 19: 43,811,513 (GRCm39) G993C probably damaging Het
Abcc2 G C 19: 43,811,514 (GRCm39) G993A probably damaging Het
Abi3bp A T 16: 56,488,673 (GRCm39) H810L probably benign Het
Aldh1l2 T C 10: 83,358,641 (GRCm39) D5G probably benign Het
Aldh7a1 A T 18: 56,678,035 (GRCm39) probably null Het
Aox1 T A 1: 58,096,559 (GRCm39) probably null Het
Apbb1 G T 7: 105,223,033 (GRCm39) Q193K probably benign Het
Arl9 C A 5: 77,154,396 (GRCm39) N41K probably damaging Het
Armc1 A G 3: 19,203,680 (GRCm39) M82T probably damaging Het
Bms1 T C 6: 118,381,960 (GRCm39) E526G probably damaging Het
Cacna1a C T 8: 85,285,922 (GRCm39) R809C probably damaging Het
Cd200r1 T C 16: 44,610,033 (GRCm39) I84T probably damaging Het
Cgrrf1 T C 14: 47,069,812 (GRCm39) V27A probably damaging Het
Clec4f G A 6: 83,629,557 (GRCm39) Q334* probably null Het
Cpeb3 C T 19: 37,151,389 (GRCm39) G329D possibly damaging Het
Ctnnbl1 C T 2: 157,661,490 (GRCm39) probably null Het
Dip2b A T 15: 100,079,217 (GRCm39) M810L probably benign Het
Eml3 T C 19: 8,908,773 (GRCm39) S158P probably damaging Het
Eps8l2 G T 7: 140,938,175 (GRCm39) E470* probably null Het
Flt3l A G 7: 44,783,428 (GRCm39) F146S probably damaging Het
Glmn A T 5: 107,706,368 (GRCm39) V419E possibly damaging Het
Gm11360 T A 13: 28,140,295 (GRCm39) I53N probably damaging Het
Gpbp1l1 T A 4: 116,444,656 (GRCm39) V275D possibly damaging Het
Has3 T C 8: 107,605,054 (GRCm39) V420A possibly damaging Het
Huwe1 C A X: 150,671,444 (GRCm39) T1012K probably benign Het
Iqcg G A 16: 32,837,345 (GRCm39) probably benign Het
Itga4 G A 2: 79,103,143 (GRCm39) G111R probably damaging Het
Keap1 A G 9: 21,145,282 (GRCm39) S243P probably damaging Het
Kmt2a C T 9: 44,732,472 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,098 (GRCm39) N286S probably damaging Het
Ltbp3 A T 19: 5,806,610 (GRCm39) probably null Het
Mbtps1 C T 8: 120,249,238 (GRCm39) C684Y possibly damaging Het
Mcm3ap A T 10: 76,343,171 (GRCm39) I1688F probably damaging Het
Midn C T 10: 79,987,553 (GRCm39) T21I probably damaging Het
Naf1 C T 8: 67,342,114 (GRCm39) P580S possibly damaging Het
Nherf4 G A 9: 44,160,158 (GRCm39) R349C probably benign Het
Nlrp3 A T 11: 59,440,487 (GRCm39) E688V possibly damaging Het
Nusap1 A G 2: 119,470,129 (GRCm39) H259R probably damaging Het
Nxpe4 A G 9: 48,310,284 (GRCm39) T516A probably damaging Het
Oas1g T A 5: 121,017,230 (GRCm39) T275S probably damaging Het
Ogdh T G 11: 6,299,374 (GRCm39) F743V probably damaging Het
Or5aq6 T C 2: 86,922,974 (GRCm39) T256A probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or6c215 C A 10: 129,638,169 (GRCm39) C75F probably damaging Het
Or6c75 C A 10: 129,337,339 (GRCm39) C195* probably null Het
Or9i1b A G 19: 13,896,717 (GRCm39) E111G probably damaging Het
Peg10 GGAT GGATCCCCATCATGAT 6: 4,756,472 (GRCm39) probably benign Het
Piezo1 T A 8: 123,217,866 (GRCm39) Y819F probably damaging Het
Plekhg2 C A 7: 28,070,591 (GRCm39) G20C probably damaging Het
Polq A G 16: 36,881,663 (GRCm39) T997A possibly damaging Het
Polr3a T A 14: 24,503,264 (GRCm39) Q1190L possibly damaging Het
Ppp1r15a T A 7: 45,173,173 (GRCm39) K800* probably null Het
Prkdc T A 16: 15,555,769 (GRCm39) M2181K probably damaging Het
Pskh1 C A 8: 106,639,536 (GRCm39) A72E probably benign Het
Purg T C 8: 33,877,321 (GRCm39) Y320H probably damaging Het
Rab3gap2 T A 1: 184,988,034 (GRCm39) probably null Het
Rnps1 T A 17: 24,644,089 (GRCm39) probably benign Het
Scgb2b21 A T 7: 33,219,233 (GRCm39) V57E probably benign Het
Sdhaf2 A T 19: 10,502,439 (GRCm39) I7N probably benign Het
Six4 A G 12: 73,150,899 (GRCm39) Y549H probably damaging Het
Slc4a10 G T 2: 62,064,772 (GRCm39) V209F possibly damaging Het
Slc4a11 C A 2: 130,526,927 (GRCm39) V734F probably benign Het
Stk4 T A 2: 163,959,904 (GRCm39) M27K possibly damaging Het
Tecrl A T 5: 83,461,174 (GRCm39) C79* probably null Het
Tgm3 G T 2: 129,880,333 (GRCm39) V380L possibly damaging Het
Tiam2 A T 17: 3,501,120 (GRCm39) M920L probably benign Het
Tjp1 T C 7: 64,968,237 (GRCm39) N729S probably damaging Het
Tlr12 A G 4: 128,511,581 (GRCm39) L223P probably damaging Het
Tmem268 T C 4: 63,484,005 (GRCm39) probably null Het
Tmpo A T 10: 90,998,818 (GRCm39) I323K possibly damaging Het
Tmx4 T C 2: 134,440,549 (GRCm39) S302G probably benign Het
Trip11 C A 12: 101,852,127 (GRCm39) E361* probably null Het
Tspyl3 T A 2: 153,067,076 (GRCm39) N54I possibly damaging Het
Upp2 A T 2: 58,668,021 (GRCm39) Y220F probably damaging Het
Usp22 G T 11: 61,052,290 (GRCm39) probably null Het
Vezt ACTCCTCCT ACTCCT 10: 93,809,793 (GRCm39) probably benign Het
Vmn1r235 G T 17: 21,482,562 (GRCm39) G296W probably damaging Het
Vmn1r89 T C 7: 12,954,113 (GRCm39) V94A possibly damaging Het
Zfp607a A T 7: 27,565,073 (GRCm39) E80V probably damaging Het
Other mutations in Harbi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Harbi1 APN 2 91,542,971 (GRCm39) missense probably damaging 1.00
R0670:Harbi1 UTSW 2 91,542,880 (GRCm39) missense probably damaging 1.00
R0673:Harbi1 UTSW 2 91,542,880 (GRCm39) missense probably damaging 1.00
R3788:Harbi1 UTSW 2 91,550,952 (GRCm39) missense probably benign 0.10
R6545:Harbi1 UTSW 2 91,542,640 (GRCm39) missense probably damaging 0.99
R7207:Harbi1 UTSW 2 91,542,790 (GRCm39) missense probably damaging 1.00
R7324:Harbi1 UTSW 2 91,551,044 (GRCm39) missense probably benign 0.16
R7728:Harbi1 UTSW 2 91,542,626 (GRCm39) missense possibly damaging 0.80
R8218:Harbi1 UTSW 2 91,543,237 (GRCm39) missense probably benign
R9095:Harbi1 UTSW 2 91,542,980 (GRCm39) missense probably damaging 0.96
R9244:Harbi1 UTSW 2 91,543,040 (GRCm39) missense probably damaging 1.00
R9562:Harbi1 UTSW 2 91,542,698 (GRCm39) nonsense probably null
R9604:Harbi1 UTSW 2 91,542,689 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCGTACAGTCTCTAAAGGACG -3'
(R):5'- TTCTCTCACCAGAGGTCACAG -3'

Sequencing Primer
(F):5'- CGTACAGTCTCTAAAGGACGAATTC -3'
(R):5'- AGTAAGACTACAGAACCTCAGATTTC -3'
Posted On 2015-06-20