Incidental Mutation 'R5615:Hjurp'
ID 501160
Institutional Source Beutler Lab
Gene Symbol Hjurp
Ensembl Gene ENSMUSG00000044783
Gene Name Holliday junction recognition protein
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R5615 (G1)
Quality Score 217
Status Not validated
Chromosome 1
Chromosomal Location 88262471-88277633 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) GT to GTT at 88266524 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054674] [ENSMUST00000061013] [ENSMUST00000065420] [ENSMUST00000113130] [ENSMUST00000127446] [ENSMUST00000147393]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
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 null
Transcript: ENSMUST00000127446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128532
Predicted Effect probably benign
Transcript: ENSMUST00000147393
SMART Domains Protein: ENSMUSP00000120753
Gene: ENSMUSG00000044783

DomainStartEndE-ValueType
Pfam:Scm3 9 70 7.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148384
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,606,759 (GRCm38) L407H probably damaging Het
Abca12 A T 1: 71,307,059 (GRCm38) L884H probably damaging Het
Ahr A G 12: 35,503,885 (GRCm38) V745A probably benign Het
Ankrd17 A T 5: 90,283,436 (GRCm38) S830T possibly damaging Het
Aox1 A G 1: 58,096,966 (GRCm38) T1123A probably benign Het
Arhgef11 T C 3: 87,722,485 (GRCm38) probably null Het
Bcas3 T A 11: 85,470,761 (GRCm38) C250S probably damaging Het
Bckdk T C 7: 127,907,317 (GRCm38) I272T probably damaging Het
Cacna1e T C 1: 154,412,170 (GRCm38) K1897E probably damaging Het
Cd180 A T 13: 102,706,203 (GRCm38) I586F probably benign Het
Cep290 A G 10: 100,531,150 (GRCm38) D1121G probably damaging Het
Clasrp A G 7: 19,586,447 (GRCm38) probably benign Het
Col27a1 G T 4: 63,281,114 (GRCm38) K912N probably damaging Het
Dock4 G T 12: 40,649,480 (GRCm38) R231L probably benign Het
Ell G A 8: 70,590,732 (GRCm38) S505N probably benign Het
Ephb6 A G 6: 41,619,291 (GRCm38) T833A probably benign Het
Hemk1 T A 9: 107,330,824 (GRCm38) probably null Het
Hspa12a T C 19: 58,804,650 (GRCm38) I368V possibly damaging Het
Igkv3-3 A T 6: 70,687,230 (GRCm38) T19S probably benign Het
Itpr1 G A 6: 108,488,600 (GRCm38) A2158T possibly damaging Het
Lancl2 T C 6: 57,722,511 (GRCm38) Y104H probably damaging Het
Leng8 G T 7: 4,144,958 (GRCm38) E634* probably null Het
Lrrk1 A T 7: 66,287,615 (GRCm38) C930S probably damaging Het
Lvrn C T 18: 46,850,328 (GRCm38) S46L possibly damaging Het
Mcidas G A 13: 112,997,425 (GRCm38) V148I probably benign Het
Mprip A T 11: 59,758,487 (GRCm38) T1006S probably benign Het
Mrgprb3 T A 7: 48,643,486 (GRCm38) M106L probably benign Het
Mroh2a GCCC GC 1: 88,232,257 (GRCm38) probably null Het
Mtor G A 4: 148,538,276 (GRCm38) V1938I possibly damaging Het
Muc2 A G 7: 141,691,203 (GRCm38) D46G probably damaging Het
Nfkb2 G T 19: 46,307,567 (GRCm38) E170D probably benign Het
Olfr1113 T A 2: 87,213,739 (GRCm38) F282L probably benign Het
Olfr811 A T 10: 129,801,767 (GRCm38) C253S probably damaging Het
Osbp2 C T 11: 3,863,356 (GRCm38) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm38) M238K possibly damaging Het
Pcdhac2 G T 18: 37,146,424 (GRCm38) G819V probably benign Het
Pcdhac2 G A 18: 37,146,423 (GRCm38) G819R probably benign Het
Pcdhga12 T G 18: 37,768,079 (GRCm38) S655A probably damaging Het
Pkd1l3 A G 8: 109,630,210 (GRCm38) I756V probably benign Het
Plekhd1 T A 12: 80,720,590 (GRCm38) S251T probably damaging Het
Ppp2r1a A T 17: 20,958,987 (GRCm38) T96S probably benign Het
Qser1 A C 2: 104,789,694 (GRCm38) S258A possibly damaging Het
Rsph4a G A 10: 33,909,328 (GRCm38) A412T probably benign Het
Sass6 T A 3: 116,607,486 (GRCm38) C159S probably benign Het
Scaf4 T C 16: 90,251,960 (GRCm38) Q322R unknown Het
Sema6d C T 2: 124,656,901 (GRCm38) H244Y probably damaging Het
Sigirr T G 7: 141,092,719 (GRCm38) L163F probably damaging Het
Spata31d1c C A 13: 65,035,264 (GRCm38) L207I possibly damaging Het
Tacstd2 A G 6: 67,535,049 (GRCm38) F220L probably damaging Het
Tdpoz4 A T 3: 93,797,499 (GRCm38) T368S probably benign Het
Tnxb C A 17: 34,683,418 (GRCm38) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,807,365 (GRCm38) probably benign Het
Trpm6 C T 19: 18,829,933 (GRCm38) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,216,158 (GRCm38) probably benign Het
Vmn2r114 ATTT ATT 17: 23,290,932 (GRCm38) probably null Het
Vmn2r61 A G 7: 42,300,493 (GRCm38) E779G probably damaging Het
Vmn2r61 T A 7: 42,267,253 (GRCm38) M430K probably benign Het
Zfp599 T C 9: 22,253,869 (GRCm38) D70G probably benign Het
Zmym1 A T 4: 127,049,398 (GRCm38) I301N probably damaging Het
Other mutations in Hjurp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Hjurp APN 1 88,270,269 (GRCm38) missense probably benign 0.04
IGL03099:Hjurp APN 1 88,266,289 (GRCm38) missense probably benign 0.09
BB003:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
IGL03097:Hjurp UTSW 1 88,266,280 (GRCm38) utr 3 prime probably benign
IGL03098:Hjurp UTSW 1 88,266,280 (GRCm38) utr 3 prime probably benign
IGL03147:Hjurp UTSW 1 88,266,280 (GRCm38) utr 3 prime probably benign
PIT4131001:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
PIT4142001:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
PIT4142001:Hjurp UTSW 1 88,266,046 (GRCm38) missense probably damaging 0.98
PIT4142001:Hjurp UTSW 1 88,266,616 (GRCm38) missense probably benign 0.04
PIT4142001:Hjurp UTSW 1 88,266,561 (GRCm38) utr 3 prime probably benign
PIT4378001:Hjurp UTSW 1 88,266,277 (GRCm38) utr 3 prime probably benign
PIT4812001:Hjurp UTSW 1 88,266,277 (GRCm38) utr 3 prime probably benign
R0053:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R0371:Hjurp UTSW 1 88,277,368 (GRCm38) splice site probably benign
R0442:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R0762:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R0928:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R1333:Hjurp UTSW 1 88,266,046 (GRCm38) missense probably damaging 0.98
R1342:Hjurp UTSW 1 88,277,368 (GRCm38) splice site probably benign
R1364:Hjurp UTSW 1 88,266,525 (GRCm38) frame shift probably null
R1496:Hjurp UTSW 1 88,275,050 (GRCm38) missense possibly damaging 0.59
R1637:Hjurp UTSW 1 88,266,121 (GRCm38) missense probably benign 0.03
R1905:Hjurp UTSW 1 88,266,616 (GRCm38) missense probably benign 0.04
R1965:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R1992:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R2002:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R2023:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R2024:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R2332:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R2420:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R2422:Hjurp UTSW 1 88,266,561 (GRCm38) utr 3 prime probably benign
R2869:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R2870:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R2871:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R2872:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3019:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3021:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3150:Hjurp UTSW 1 88,266,561 (GRCm38) utr 3 prime probably benign
R3411:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3552:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3704:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R3730:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3733:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3764:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3799:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R3819:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R3857:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3930:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R3952:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R4090:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R4159:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R4207:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R4322:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R4391:Hjurp UTSW 1 88,266,561 (GRCm38) utr 3 prime probably benign
R4392:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R4393:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R4393:Hjurp UTSW 1 88,266,561 (GRCm38) utr 3 prime probably benign
R4397:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R4700:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R4808:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R4900:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R4901:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R5023:Hjurp UTSW 1 88,275,050 (GRCm38) missense possibly damaging 0.59
R5024:Hjurp UTSW 1 88,275,050 (GRCm38) missense possibly damaging 0.59
R5076:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R5123:Hjurp UTSW 1 88,275,050 (GRCm38) missense possibly damaging 0.59
R5236:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R5300:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R5318:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R5370:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R5410:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R5445:Hjurp UTSW 1 88,266,316 (GRCm38) missense probably benign 0.43
R5457:Hjurp UTSW 1 88,266,525 (GRCm38) frame shift probably null
R5497:Hjurp UTSW 1 88,266,320 (GRCm38) missense possibly damaging 0.92
R5560:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R5561:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R5661:Hjurp UTSW 1 88,277,215 (GRCm38) splice site probably benign
R5722:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R6087:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R6089:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R6090:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R6125:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R6175:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R6362:Hjurp UTSW 1 88,275,050 (GRCm38) missense possibly damaging 0.59
R6659:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R7016:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
R7016:Hjurp UTSW 1 88,266,277 (GRCm38) utr 3 prime probably benign
R7045:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
R7179:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
R7200:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
R7463:Hjurp UTSW 1 88,266,277 (GRCm38) utr 3 prime probably benign
R7912:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
R8215:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R8968:Hjurp UTSW 1 88,266,277 (GRCm38) utr 3 prime probably benign
R9038:Hjurp UTSW 1 88,266,524 (GRCm38) nonsense probably null
R9115:Hjurp UTSW 1 88,266,277 (GRCm38) utr 3 prime probably benign
R9133:Hjurp UTSW 1 88,275,050 (GRCm38) missense possibly damaging 0.59
R9146:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
R9221:Hjurp UTSW 1 88,266,277 (GRCm38) utr 3 prime probably benign
R9475:Hjurp UTSW 1 88,266,277 (GRCm38) utr 3 prime probably benign
R9482:Hjurp UTSW 1 88,266,274 (GRCm38) utr 3 prime probably benign
R9565:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
R9599:Hjurp UTSW 1 88,266,278 (GRCm38) utr 3 prime probably benign
V5622:Hjurp UTSW 1 88,277,525 (GRCm38) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CCAGCTCTGGTTGATGTAGG -3'
(R):5'- AACTGTCATGGTTTGTGATGCC -3'

Sequencing Primer
(F):5'- AGGTCTTGGTGGAGATGATGCAG -3'
(R):5'- CCTGCCCGGTGGGTAAGTATG -3'
Posted On 2017-12-01