Incidental Mutation 'R6669:Herc4'
ID 528062
Institutional Source Beutler Lab
Gene Symbol Herc4
Ensembl Gene ENSMUSG00000020064
Gene Name hect domain and RLD 4
Synonyms 4921531D01Rik, 1700056O17Rik, 9530080M15Rik
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # R6669 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 63079589-63153657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63121847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 400 (W400R)
Ref Sequence ENSEMBL: ENSMUSP00000151886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020258] [ENSMUST00000219577]
AlphaFold Q6PAV2
Predicted Effect probably benign
Transcript: ENSMUST00000020258
AA Change: W400R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: W400R

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: ENSMUST00000218073
Predicted Effect probably benign
Transcript: ENSMUST00000219577
AA Change: W400R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220097
Meta Mutation Damage Score 0.0768 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTCAACTGTCCAAATTTGTTTTCC -3'
(R):5'- TTTCCTGTCTGAAAGGACTAGAG -3'

Sequencing Primer
(F):5'- AACTGTCCAAATTTGTTTTCCTACTC -3'
(R):5'- CTGTCTGAAAGGACTAGAGCTTTAAG -3'
Posted On 2018-07-24