Incidental Mutation 'IGL02207:Herc4'
ID 284568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Herc4
Ensembl Gene ENSMUSG00000020064
Gene Name hect domain and RLD 4
Synonyms 4921531D01Rik, 1700056O17Rik, 9530080M15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # IGL02207
Quality Score
Status
Chromosome 10
Chromosomal Location 63079589-63153657 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 63135023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020258] [ENSMUST00000219577]
AlphaFold Q6PAV2
Predicted Effect probably null
Transcript: ENSMUST00000020258
SMART Domains Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064

DomainStartEndE-ValueType
Pfam:RCC1 1 49 5.1e-11 PFAM
Pfam:RCC1_2 36 65 1.2e-9 PFAM
Pfam:RCC1 52 99 7.9e-16 PFAM
Pfam:RCC1_2 86 115 2.8e-11 PFAM
Pfam:RCC1 102 152 7.6e-18 PFAM
Pfam:RCC1_2 139 168 9.9e-14 PFAM
Pfam:RCC1 156 205 2.2e-15 PFAM
Pfam:RCC1_2 194 221 4.9e-10 PFAM
Pfam:RCC1 208 257 3.5e-17 PFAM
Pfam:RCC1 260 309 9.4e-14 PFAM
Pfam:RCC1 313 376 2.7e-8 PFAM
HECTc 720 1049 1.19e-135 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219279
Predicted Effect probably null
Transcript: ENSMUST00000219577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220097
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele display reduced male fertility associated with a high percentage of angulated sperm tails and impaired sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,992,993 (GRCm39) E702G probably damaging Het
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Agap3 A T 5: 24,704,934 (GRCm39) T660S probably benign Het
Amotl2 A T 9: 102,601,896 (GRCm39) E380V probably damaging Het
Ap4e1 A G 2: 126,853,736 (GRCm39) E58G probably damaging Het
Arap3 G A 18: 38,120,906 (GRCm39) A713V probably benign Het
B4galt2 T C 4: 117,738,718 (GRCm39) D33G probably damaging Het
Bbs7 A T 3: 36,658,639 (GRCm39) S212T probably benign Het
Ccl26 A G 5: 135,592,224 (GRCm39) Y38H probably benign Het
Ccne2 A T 4: 11,202,261 (GRCm39) S339C probably benign Het
Cd55 A G 1: 130,380,156 (GRCm39) V274A possibly damaging Het
Cenpw T G 10: 30,074,577 (GRCm39) probably null Het
Cert1 T C 13: 96,761,300 (GRCm39) probably null Het
Chrnb4 T C 9: 54,942,500 (GRCm39) D258G probably damaging Het
Commd3 T C 2: 18,678,819 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b23 C A 7: 26,381,180 (GRCm39) R59L probably damaging Het
Edar G T 10: 58,446,343 (GRCm39) T194K probably damaging Het
Edem3 A G 1: 151,684,111 (GRCm39) I733V possibly damaging Het
Elmod2 T C 8: 84,048,135 (GRCm39) Y109C probably benign Het
Eps15 C T 4: 109,161,945 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,412 (GRCm39) V1937A probably benign Het
Fdx2 T A 9: 20,979,415 (GRCm39) probably null Het
Flg2 A T 3: 93,127,435 (GRCm39) I2116F unknown Het
Gm15091 A G X: 148,760,462 (GRCm39) D424G possibly damaging Het
Gm16380 T A 9: 53,791,823 (GRCm39) noncoding transcript Het
Gpn2 G A 4: 133,311,947 (GRCm39) V60M possibly damaging Het
Grip1 G A 10: 119,911,214 (GRCm39) R1044K probably damaging Het
H2-D1 T A 17: 35,482,390 (GRCm39) S37T possibly damaging Het
Havcr1 C T 11: 46,669,403 (GRCm39) A294V probably benign Het
Ift140 A G 17: 25,274,572 (GRCm39) Y748C probably benign Het
Il20ra A G 10: 19,627,326 (GRCm39) T242A probably damaging Het
Ilvbl G A 10: 78,419,536 (GRCm39) probably null Het
Kif18a A T 2: 109,127,052 (GRCm39) I329L probably damaging Het
Kmt2a T A 9: 44,758,979 (GRCm39) I957F probably damaging Het
Krt1 A G 15: 101,757,051 (GRCm39) I282T possibly damaging Het
Lamb1 T G 12: 31,379,434 (GRCm39) V1768G probably damaging Het
Nek9 A T 12: 85,350,257 (GRCm39) L939* probably null Het
Nfe2l2 A G 2: 75,508,869 (GRCm39) L122P probably damaging Het
Nin T C 12: 70,103,431 (GRCm39) M270V probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Nrde2 T C 12: 100,097,190 (GRCm39) Y870C probably benign Het
Nsmce2 A G 15: 59,287,927 (GRCm39) M71V probably benign Het
Ocstamp T C 2: 165,239,583 (GRCm39) H201R possibly damaging Het
Oog4 T C 4: 143,165,510 (GRCm39) I212M probably benign Het
Or11g2 G A 14: 50,856,015 (GRCm39) G112D probably damaging Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Osmr T C 15: 6,876,628 (GRCm39) T99A probably benign Het
Pdia4 A T 6: 47,773,741 (GRCm39) M536K probably benign Het
Pdyn A T 2: 129,530,438 (GRCm39) L77H probably damaging Het
Pikfyve T C 1: 65,290,837 (GRCm39) probably null Het
Plcb1 A G 2: 135,229,091 (GRCm39) E1105G probably damaging Het
Rb1 A T 14: 73,443,525 (GRCm39) D743E probably damaging Het
Rdh14 G A 12: 10,444,712 (GRCm39) V188I possibly damaging Het
Scd3 T C 19: 44,204,028 (GRCm39) V72A possibly damaging Het
Shld1 A T 2: 132,533,866 (GRCm39) probably benign Het
Slc25a27 G A 17: 43,972,575 (GRCm39) R104W probably damaging Het
Slc29a4 A G 5: 142,704,640 (GRCm39) D394G possibly damaging Het
Slco1a8 A T 6: 141,936,158 (GRCm39) I309N possibly damaging Het
Snx29 T G 16: 11,556,216 (GRCm39) M407R probably damaging Het
Syf2 A G 4: 134,662,363 (GRCm39) probably null Het
Syn1 T C X: 20,731,376 (GRCm39) Q321R probably benign Het
Tbc1d12 A T 19: 38,905,091 (GRCm39) D602V probably damaging Het
Tenm4 A T 7: 96,523,323 (GRCm39) I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 (GRCm39) probably benign Het
Trav6-2 G A 14: 52,904,889 (GRCm39) V8M possibly damaging Het
Unc119b A G 5: 115,272,813 (GRCm39) S53P probably benign Het
Vmp1 T A 11: 86,498,019 (GRCm39) I299F possibly damaging Het
Xpot T C 10: 121,449,485 (GRCm39) Y194C probably damaging Het
Zbtb10 T A 3: 9,345,525 (GRCm39) probably null Het
Other mutations in Herc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Herc4 APN 10 63,109,316 (GRCm39) missense probably benign 0.01
IGL00977:Herc4 APN 10 63,147,346 (GRCm39) missense probably damaging 1.00
IGL01455:Herc4 APN 10 63,121,922 (GRCm39) critical splice donor site probably null
IGL01615:Herc4 APN 10 63,126,461 (GRCm39) splice site probably benign
IGL01974:Herc4 APN 10 63,135,020 (GRCm39) critical splice donor site probably null
IGL02215:Herc4 APN 10 63,109,345 (GRCm39) missense probably benign
IGL02331:Herc4 APN 10 63,099,939 (GRCm39) missense probably benign
IGL02407:Herc4 APN 10 63,142,203 (GRCm39) missense probably damaging 0.96
IGL02444:Herc4 APN 10 63,142,212 (GRCm39) missense probably benign 0.00
IGL02498:Herc4 APN 10 63,109,244 (GRCm39) missense probably benign 0.01
IGL02797:Herc4 APN 10 63,152,586 (GRCm39) splice site probably null
IGL02804:Herc4 APN 10 63,121,454 (GRCm39) missense probably benign 0.10
Boosted UTSW 10 63,099,950 (GRCm39) nonsense probably null
Factorial UTSW 10 63,121,847 (GRCm39) missense probably benign 0.00
handout UTSW 10 63,151,437 (GRCm39) critical splice acceptor site probably null
R0499:Herc4 UTSW 10 63,099,811 (GRCm39) missense probably damaging 1.00
R0655:Herc4 UTSW 10 63,109,350 (GRCm39) missense probably benign 0.33
R0722:Herc4 UTSW 10 63,121,844 (GRCm39) missense probably null 0.56
R0738:Herc4 UTSW 10 63,124,928 (GRCm39) missense possibly damaging 0.93
R1742:Herc4 UTSW 10 63,123,728 (GRCm39) missense probably benign 0.16
R1776:Herc4 UTSW 10 63,099,950 (GRCm39) nonsense probably null
R1792:Herc4 UTSW 10 63,081,680 (GRCm39) start codon destroyed probably null 1.00
R1968:Herc4 UTSW 10 63,109,304 (GRCm39) missense probably benign 0.43
R1992:Herc4 UTSW 10 63,081,743 (GRCm39) missense possibly damaging 0.50
R2012:Herc4 UTSW 10 63,079,817 (GRCm39) start gained probably benign
R2077:Herc4 UTSW 10 63,099,832 (GRCm39) missense probably benign 0.04
R2103:Herc4 UTSW 10 63,081,889 (GRCm39) missense probably benign 0.00
R2363:Herc4 UTSW 10 63,151,473 (GRCm39) missense possibly damaging 0.96
R3833:Herc4 UTSW 10 63,081,739 (GRCm39) missense probably benign
R4014:Herc4 UTSW 10 63,123,323 (GRCm39) missense probably benign
R4084:Herc4 UTSW 10 63,119,016 (GRCm39) missense probably damaging 1.00
R4855:Herc4 UTSW 10 63,151,437 (GRCm39) critical splice acceptor site probably null
R4883:Herc4 UTSW 10 63,121,433 (GRCm39) missense probably benign 0.00
R5215:Herc4 UTSW 10 63,124,876 (GRCm39) missense probably benign 0.22
R5330:Herc4 UTSW 10 63,143,578 (GRCm39) nonsense probably null
R5331:Herc4 UTSW 10 63,143,578 (GRCm39) nonsense probably null
R5429:Herc4 UTSW 10 63,110,792 (GRCm39) missense probably benign 0.01
R6058:Herc4 UTSW 10 63,110,821 (GRCm39) missense possibly damaging 0.80
R6462:Herc4 UTSW 10 63,124,880 (GRCm39) missense probably benign
R6502:Herc4 UTSW 10 63,153,197 (GRCm39) missense probably benign 0.00
R6669:Herc4 UTSW 10 63,121,847 (GRCm39) missense probably benign 0.00
R7161:Herc4 UTSW 10 63,144,194 (GRCm39) missense probably benign 0.35
R7267:Herc4 UTSW 10 63,109,365 (GRCm39) missense possibly damaging 0.64
R7740:Herc4 UTSW 10 63,105,457 (GRCm39) missense probably benign 0.02
R8515:Herc4 UTSW 10 63,151,565 (GRCm39) missense probably benign 0.00
R8896:Herc4 UTSW 10 63,147,286 (GRCm39) missense possibly damaging 0.61
R9117:Herc4 UTSW 10 63,126,300 (GRCm39) missense probably benign 0.22
R9332:Herc4 UTSW 10 63,144,125 (GRCm39) missense probably damaging 1.00
R9388:Herc4 UTSW 10 63,143,522 (GRCm39) missense probably benign 0.00
R9530:Herc4 UTSW 10 63,126,382 (GRCm39) missense probably benign 0.00
Z1176:Herc4 UTSW 10 63,143,528 (GRCm39) missense probably benign 0.09
Posted On 2015-04-16