Incidental Mutation 'R7179:Hjurp'
ID 558810
Institutional Source Beutler Lab
Gene Symbol Hjurp
Ensembl Gene ENSMUSG00000044783
Gene Name Holliday junction recognition protein
Synonyms A730008H23Rik, C330011F01Rik, 6430706D22Rik
MMRRC Submission 045269-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R7179 (G1)
Quality Score 217.468
Status Validated
Chromosome 1
Chromosomal Location 88190193-88205355 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT to TCT at 88194000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054674] [ENSMUST00000061013] [ENSMUST00000065420] [ENSMUST00000113130] [ENSMUST00000127446] [ENSMUST00000147393]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000054674
SMART Domains Protein: ENSMUSP00000054263
Gene: ENSMUSG00000044783

DomainStartEndE-ValueType
Pfam:Scm3 11 68 1.5e-10 PFAM
low complexity region 159 175 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
Pfam:HJURP_mid 254 370 7.6e-54 PFAM
Pfam:HJURP_C 385 446 3.1e-26 PFAM
low complexity region 496 515 N/A INTRINSIC
Pfam:HJURP_C 527 585 7.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061013
SMART Domains Protein: ENSMUSP00000130508
Gene: ENSMUSG00000079429

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
low complexity region 99 112 N/A INTRINSIC
low complexity region 1235 1248 N/A INTRINSIC
SCOP:d1jdha_ 1371 1669 9e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065420
SMART Domains Protein: ENSMUSP00000070419
Gene: ENSMUSG00000044783

DomainStartEndE-ValueType
Pfam:Scm3 9 70 2.9e-11 PFAM
low complexity region 83 99 N/A INTRINSIC
low complexity region 139 156 N/A INTRINSIC
Pfam:HJURP_mid 178 295 7.4e-64 PFAM
Pfam:HJURP_C 309 371 1.2e-26 PFAM
low complexity region 420 439 N/A INTRINSIC
Pfam:HJURP_C 451 510 3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113130
SMART Domains Protein: ENSMUSP00000108755
Gene: ENSMUSG00000079429

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
low complexity region 99 112 N/A INTRINSIC
low complexity region 1232 1245 N/A INTRINSIC
SCOP:d1gw5a_ 1446 1671 6e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127446
Predicted Effect probably benign
Transcript: ENSMUST00000147393
SMART Domains Protein: ENSMUSP00000120753
Gene: ENSMUSG00000044783

DomainStartEndE-ValueType
Pfam:Scm3 9 70 7.2e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 100% (76/76)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot13 A T 13: 25,002,154 (GRCm39) I96K probably benign Het
Adam6a A G 12: 113,509,291 (GRCm39) T555A probably benign Het
Alms1 C T 6: 85,598,351 (GRCm39) P1059L probably benign Het
Apol7c T C 15: 77,409,843 (GRCm39) T368A probably benign Het
Arfgef3 A T 10: 18,475,015 (GRCm39) L1557Q probably damaging Het
Baz2a C T 10: 127,960,326 (GRCm39) R1514W probably damaging Het
Bmp3 T A 5: 99,020,622 (GRCm39) D348E probably damaging Het
Bves A G 10: 45,230,913 (GRCm39) S295G probably damaging Het
Carmil1 A G 13: 24,204,052 (GRCm39) C1328R probably benign Het
Ccnk T A 12: 108,153,517 (GRCm39) Y93N probably damaging Het
Ccr1 A T 9: 123,764,089 (GRCm39) V147D probably damaging Het
Cd24a G A 10: 43,458,636 (GRCm39) G36S probably benign Het
Cep104 A G 4: 154,077,324 (GRCm39) Y569C probably damaging Het
Chd2 A T 7: 73,125,168 (GRCm39) I884N probably damaging Het
Cnst A T 1: 179,406,947 (GRCm39) probably benign Het
Col22a1 A G 15: 71,805,262 (GRCm39) L146P unknown Het
Col25a1 G T 3: 130,323,768 (GRCm39) R321L probably damaging Het
Ctnnd2 T C 15: 30,683,510 (GRCm39) Y504H possibly damaging Het
D3Ertd751e C A 3: 41,703,143 (GRCm39) Q73K probably damaging Het
Dsc2 C T 18: 20,168,332 (GRCm39) probably null Het
Eya1 A T 1: 14,373,076 (GRCm39) S14R probably damaging Het
Fam131c A T 4: 141,110,328 (GRCm39) probably null Het
Flvcr2 T C 12: 85,793,965 (GRCm39) F114L possibly damaging Het
Fyn A G 10: 39,408,120 (GRCm39) D321G possibly damaging Het
Galnt5 A C 2: 57,888,621 (GRCm39) M74L probably benign Het
Garin4 G A 1: 190,896,218 (GRCm39) R142C probably damaging Het
Gas2l2 G A 11: 83,313,288 (GRCm39) P675S probably benign Het
Gm9508 G T 10: 77,532,470 (GRCm39) Q200K unknown Het
Greb1l G A 18: 10,544,576 (GRCm39) S1390N probably benign Het
Hdac5 G T 11: 102,095,385 (GRCm39) T430K possibly damaging Het
Khnyn C T 14: 56,131,811 (GRCm39) P578S probably damaging Het
Lepr A T 4: 101,602,856 (GRCm39) T215S probably benign Het
Lrfn5 G A 12: 61,890,768 (GRCm39) V686I probably benign Het
Mapkap1 T A 2: 34,408,712 (GRCm39) H233Q possibly damaging Het
Mcm3 A G 1: 20,885,081 (GRCm39) I201T probably damaging Het
Metrnl G A 11: 121,606,734 (GRCm39) R263Q probably damaging Het
Mettl22 A G 16: 8,295,924 (GRCm39) E71G probably benign Het
Muc16 T C 9: 18,553,304 (GRCm39) T4330A probably benign Het
Mug1 A G 6: 121,834,379 (GRCm39) T387A probably benign Het
Myh4 A G 11: 67,135,550 (GRCm39) D379G probably benign Het
Nbas A G 12: 13,455,398 (GRCm39) D1204G possibly damaging Het
Ncor2 T C 5: 125,132,847 (GRCm39) K478E unknown Het
Or14a256 A T 7: 86,265,574 (GRCm39) L93Q possibly damaging Het
Or51d1 A G 7: 102,347,477 (GRCm39) T11A probably benign Het
Or5k1 T A 16: 58,617,250 (GRCm39) I320F probably benign Het
Osbpl7 G A 11: 96,941,662 (GRCm39) V62I probably benign Het
Pak1ip1 A G 13: 41,163,018 (GRCm39) N246S probably damaging Het
Prim1 A G 10: 127,851,845 (GRCm39) Y39C probably damaging Het
Prl3b1 G T 13: 27,427,827 (GRCm39) V46L probably benign Het
Prss54 A T 8: 96,292,199 (GRCm39) S127T probably benign Het
Rasal3 G A 17: 32,611,391 (GRCm39) T912M probably damaging Het
Rrp12 T A 19: 41,872,217 (GRCm39) T420S probably benign Het
Rspo1 A G 4: 124,898,831 (GRCm39) N51D probably damaging Het
Rufy4 A G 1: 74,172,035 (GRCm39) R253G probably benign Het
Scaf1 G A 7: 44,657,167 (GRCm39) R571C unknown Het
Scn2a A T 2: 65,532,323 (GRCm39) H645L probably damaging Het
Sec24b A G 3: 129,782,595 (GRCm39) S1132P probably damaging Het
Slc1a2 A G 2: 102,586,290 (GRCm39) K298R probably damaging Het
Slc25a54 T A 3: 109,014,573 (GRCm39) N230K probably benign Het
Slc27a4 T G 2: 29,705,664 (GRCm39) Y617* probably null Het
Slc2a10 T C 2: 165,357,269 (GRCm39) S310P probably damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spag9 A T 11: 93,980,258 (GRCm39) probably null Het
Spg11 A T 2: 121,932,270 (GRCm39) probably null Het
Sycp2l A G 13: 41,283,258 (GRCm39) T165A probably damaging Het
Syt14 A G 1: 192,615,571 (GRCm39) C189R probably damaging Het
Taar9 A T 10: 23,984,882 (GRCm39) L184Q probably damaging Het
Tkt C T 14: 30,281,815 (GRCm39) P111L probably damaging Het
Trpc1 A T 9: 95,603,197 (GRCm39) L445Q possibly damaging Het
Usp53 A G 3: 122,743,359 (GRCm39) S526P probably benign Het
Vps54 T G 11: 21,248,791 (GRCm39) W447G probably damaging Het
Xirp2 A T 2: 67,340,177 (GRCm39) H806L probably benign Het
Zfp451 A T 1: 33,841,651 (GRCm39) H410Q unknown Het
Zfp688 A G 7: 127,018,484 (GRCm39) C214R probably damaging Het
Zic4 A G 9: 91,261,174 (GRCm39) D143G possibly damaging Het
Other mutations in Hjurp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Hjurp APN 1 88,197,991 (GRCm39) missense probably benign 0.04
IGL03099:Hjurp APN 1 88,194,011 (GRCm39) missense probably benign 0.09
BB003:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
IGL03097:Hjurp UTSW 1 88,194,002 (GRCm39) utr 3 prime probably benign
IGL03098:Hjurp UTSW 1 88,194,002 (GRCm39) utr 3 prime probably benign
IGL03147:Hjurp UTSW 1 88,194,002 (GRCm39) utr 3 prime probably benign
PIT4131001:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
PIT4142001:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
PIT4142001:Hjurp UTSW 1 88,193,768 (GRCm39) missense probably damaging 0.98
PIT4142001:Hjurp UTSW 1 88,194,338 (GRCm39) missense probably benign 0.04
PIT4142001:Hjurp UTSW 1 88,194,283 (GRCm39) utr 3 prime probably benign
PIT4378001:Hjurp UTSW 1 88,193,999 (GRCm39) utr 3 prime probably benign
PIT4812001:Hjurp UTSW 1 88,193,999 (GRCm39) utr 3 prime probably benign
R0053:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R0371:Hjurp UTSW 1 88,205,090 (GRCm39) splice site probably benign
R0442:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R0762:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R0928:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R1333:Hjurp UTSW 1 88,193,768 (GRCm39) missense probably damaging 0.98
R1342:Hjurp UTSW 1 88,205,090 (GRCm39) splice site probably benign
R1364:Hjurp UTSW 1 88,194,247 (GRCm39) frame shift probably null
R1496:Hjurp UTSW 1 88,202,772 (GRCm39) missense possibly damaging 0.59
R1637:Hjurp UTSW 1 88,193,843 (GRCm39) missense probably benign 0.03
R1905:Hjurp UTSW 1 88,194,338 (GRCm39) missense probably benign 0.04
R1965:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R1992:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R2002:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R2023:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R2024:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R2332:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R2420:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R2422:Hjurp UTSW 1 88,194,283 (GRCm39) utr 3 prime probably benign
R2869:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R2870:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R2871:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R2872:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3019:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3021:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3150:Hjurp UTSW 1 88,194,283 (GRCm39) utr 3 prime probably benign
R3411:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3552:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3704:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R3730:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3733:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3764:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3799:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R3819:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R3857:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3930:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R3952:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R4090:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R4159:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R4207:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R4322:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R4391:Hjurp UTSW 1 88,194,283 (GRCm39) utr 3 prime probably benign
R4392:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R4393:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R4393:Hjurp UTSW 1 88,194,283 (GRCm39) utr 3 prime probably benign
R4397:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R4700:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R4808:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R4900:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R4901:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5023:Hjurp UTSW 1 88,202,772 (GRCm39) missense possibly damaging 0.59
R5024:Hjurp UTSW 1 88,202,772 (GRCm39) missense possibly damaging 0.59
R5076:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5123:Hjurp UTSW 1 88,202,772 (GRCm39) missense possibly damaging 0.59
R5236:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5300:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5318:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5370:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5410:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5445:Hjurp UTSW 1 88,194,038 (GRCm39) missense probably benign 0.43
R5457:Hjurp UTSW 1 88,194,247 (GRCm39) frame shift probably null
R5497:Hjurp UTSW 1 88,194,042 (GRCm39) missense possibly damaging 0.92
R5560:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5561:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5615:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R5661:Hjurp UTSW 1 88,204,937 (GRCm39) splice site probably benign
R5722:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R6087:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R6089:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R6090:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R6125:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R6175:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R6362:Hjurp UTSW 1 88,202,772 (GRCm39) missense possibly damaging 0.59
R6659:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R7016:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
R7016:Hjurp UTSW 1 88,193,999 (GRCm39) utr 3 prime probably benign
R7045:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
R7200:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
R7463:Hjurp UTSW 1 88,193,999 (GRCm39) utr 3 prime probably benign
R7912:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
R8215:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R8968:Hjurp UTSW 1 88,193,999 (GRCm39) utr 3 prime probably benign
R9038:Hjurp UTSW 1 88,194,246 (GRCm39) nonsense probably null
R9115:Hjurp UTSW 1 88,193,999 (GRCm39) utr 3 prime probably benign
R9133:Hjurp UTSW 1 88,202,772 (GRCm39) missense possibly damaging 0.59
R9146:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
R9221:Hjurp UTSW 1 88,193,999 (GRCm39) utr 3 prime probably benign
R9475:Hjurp UTSW 1 88,193,999 (GRCm39) utr 3 prime probably benign
R9482:Hjurp UTSW 1 88,193,996 (GRCm39) utr 3 prime probably benign
R9565:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
R9599:Hjurp UTSW 1 88,194,000 (GRCm39) utr 3 prime probably benign
V5622:Hjurp UTSW 1 88,205,247 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AAGTCCAAGTCCTTCTGCGG -3'
(R):5'- TTGCAATGTGACAATCAGCG -3'

Sequencing Primer
(F):5'- CTTCTGCGGCATCATCTGGAG -3'
(R):5'- GCAATGTGACAATCAGCGATTTG -3'
Posted On 2019-06-26