Incidental Mutation 'IGL02215:Herc4'
ID 284840
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 # IGL02215
Quality Score
Status
Chromosome 10
Chromosomal Location 63079589-63153657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63109345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 193 (M193I)
Ref Sequence ENSEMBL: ENSMUSP00000151886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020258] [ENSMUST00000218533] [ENSMUST00000219577]
AlphaFold Q6PAV2
Predicted Effect probably benign
Transcript: ENSMUST00000020258
AA Change: M193I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: M193I

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: ENSMUST00000217955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218073
Predicted Effect probably benign
Transcript: ENSMUST00000218533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219177
Predicted Effect probably benign
Transcript: ENSMUST00000219577
AA Change: M193I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,303,196 (GRCm39) S378R probably benign Het
Abca14 T A 7: 119,852,612 (GRCm39) M859K probably benign Het
Adamts13 C T 2: 26,875,495 (GRCm39) P462S probably damaging Het
Apol7a G T 15: 77,277,690 (GRCm39) D19E possibly damaging Het
Armc8 T C 9: 99,366,031 (GRCm39) N628D possibly damaging Het
Astn2 T A 4: 66,184,471 (GRCm39) I209F unknown Het
Atp10b T C 11: 43,085,492 (GRCm39) probably null Het
C4b C T 17: 34,953,465 (GRCm39) C1006Y probably damaging Het
Capn13 A G 17: 73,637,993 (GRCm39) L470P probably damaging Het
Col4a4 T C 1: 82,431,530 (GRCm39) R1585G unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd3 C T 15: 47,449,084 (GRCm39) V3637M probably damaging Het
Dgki C T 6: 36,993,610 (GRCm39) D584N probably damaging Het
Dmrt2 T C 19: 25,655,498 (GRCm39) S366P probably damaging Het
Dmtf1 A C 5: 9,186,070 (GRCm39) L172R probably damaging Het
Efhc2 A G X: 17,096,817 (GRCm39) F177L probably damaging Het
Enpep T A 3: 129,063,926 (GRCm39) probably benign Het
Enpp6 A T 8: 47,518,967 (GRCm39) D245V probably damaging Het
Fam199x T A X: 135,963,399 (GRCm39) probably benign Het
Fkbp4 A T 6: 128,411,433 (GRCm39) probably benign Het
Gas7 A G 11: 67,534,158 (GRCm39) H86R probably benign Het
Gcc2 A G 10: 58,107,458 (GRCm39) N862S probably benign Het
Gstm7 T C 3: 107,837,594 (GRCm39) D115G possibly damaging Het
Gtse1 C A 15: 85,746,799 (GRCm39) P205Q possibly damaging Het
H2bc1 A T 13: 24,118,093 (GRCm39) F16Y probably benign Het
Igfl3 T A 7: 17,913,763 (GRCm39) C38S possibly damaging Het
Il18rap G A 1: 40,587,082 (GRCm39) D455N probably damaging Het
Ints8 A G 4: 11,209,244 (GRCm39) I932T probably damaging Het
Itgbl1 A C 14: 124,209,553 (GRCm39) I311L probably benign Het
Jmjd1c A T 10: 67,056,101 (GRCm39) H794L probably damaging Het
Kif1a A G 1: 92,948,271 (GRCm39) S1542P probably benign Het
Klc3 T A 7: 19,129,750 (GRCm39) N373I probably damaging Het
Lcn2 T C 2: 32,274,877 (GRCm39) *201W probably null Het
Ldhb A T 6: 142,441,292 (GRCm39) probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Npat T A 9: 53,470,417 (GRCm39) S348T probably benign Het
Pclo A T 5: 14,906,999 (GRCm39) D5001V unknown Het
Peg3 C A 7: 6,712,010 (GRCm39) A1071S probably benign Het
Piwil2 A T 14: 70,628,822 (GRCm39) D731E possibly damaging Het
Prss41 T A 17: 24,062,830 (GRCm39) D35V probably benign Het
Ptprz1 T A 6: 22,965,181 (GRCm39) D159E possibly damaging Het
Rabep1 C T 11: 70,814,023 (GRCm39) Q571* probably null Het
Scn8a A G 15: 100,927,453 (GRCm39) probably null Het
Sipa1l2 G A 8: 126,174,576 (GRCm39) T1234I possibly damaging Het
Slc5a10 T A 11: 61,564,738 (GRCm39) M414L probably benign Het
Smg5 T C 3: 88,260,305 (GRCm39) S632P possibly damaging Het
Smim15 A G 13: 108,184,048 (GRCm39) D18G probably benign Het
Sorl1 T A 9: 41,929,478 (GRCm39) I1132F probably damaging Het
Spatc1 T C 15: 76,167,739 (GRCm39) probably benign Het
Sytl2 A T 7: 90,030,422 (GRCm39) probably benign Het
Tesc A G 5: 118,199,683 (GRCm39) D195G probably damaging Het
Tmem39b T A 4: 129,586,311 (GRCm39) probably null Het
Vmn2r52 A G 7: 9,905,029 (GRCm39) V270A probably damaging Het
Wdr3 C A 3: 100,054,016 (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
IGL02207:Herc4 APN 10 63,135,023 (GRCm39) splice site probably null
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