Incidental Mutation 'R0655:Herc4'
ID 62501
Institutional Source Beutler Lab
Gene Symbol Herc4
Ensembl Gene ENSMUSG00000020064
Gene Name hect domain and RLD 4
Synonyms 4921531D01Rik, 1700056O17Rik, 9530080M15Rik
MMRRC Submission 038840-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # R0655 (G1)
Quality Score 87
Status Not validated
Chromosome 10
Chromosomal Location 63079589-63153657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63109350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 195 (V195A)
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: V195A

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: V195A

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: V195A

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G C 17: 36,268,737 (GRCm39) I757M probably benign Het
Abtb3 A G 10: 85,481,390 (GRCm39) T931A probably damaging Het
Atg16l1 T A 1: 87,694,551 (GRCm39) I76N probably damaging Het
Baz1b T A 5: 135,271,284 (GRCm39) I1289N probably benign Het
Bcl2l15 T A 3: 103,740,285 (GRCm39) probably null Het
Cbl G T 9: 44,070,049 (GRCm39) T566K probably damaging Het
Cd96 T C 16: 45,919,482 (GRCm39) K180E probably benign Het
Cpxm2 G A 7: 131,656,549 (GRCm39) T571I possibly damaging Het
Cyp2a12 A T 7: 26,736,046 (GRCm39) Y485F probably benign Het
Cyp4f17 T A 17: 32,743,871 (GRCm39) Y350N possibly damaging Het
Dstn T A 2: 143,780,342 (GRCm39) I14N probably damaging Het
Eea1 A G 10: 95,831,460 (GRCm39) S184G probably benign Het
Eif1a G T 18: 46,741,130 (GRCm39) G122C probably damaging Het
Esf1 T A 2: 139,990,799 (GRCm39) T562S probably benign Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Fig4 T C 10: 41,161,673 (GRCm39) N30S probably damaging Het
Gria2 C A 3: 80,639,377 (GRCm39) E212* probably null Het
Gsdmc2 C T 15: 63,699,622 (GRCm39) A269T probably benign Het
Hivep1 T C 13: 42,321,061 (GRCm39) S2123P probably damaging Het
Hspa4 T C 11: 53,160,519 (GRCm39) E519G probably benign Het
Htr2b A G 1: 86,038,565 (GRCm39) S14P probably benign Het
Ifit1 T C 19: 34,625,047 (GRCm39) V61A probably damaging Het
Ifitm1 C A 7: 140,549,449 (GRCm39) F77L probably benign Het
Matn2 T C 15: 34,345,346 (GRCm39) S118P probably benign Het
Mtmr3 C A 11: 4,438,610 (GRCm39) D615Y probably damaging Het
Mtss1 C A 15: 58,953,351 (GRCm39) C9F probably damaging Het
Muc5b A T 7: 141,417,679 (GRCm39) I3542F probably benign Het
Nwd2 T C 5: 63,948,928 (GRCm39) S167P possibly damaging Het
Or1e34 T C 11: 73,778,631 (GRCm39) D189G possibly damaging Het
Or2ag1b A T 7: 106,288,632 (GRCm39) F102Y probably damaging Het
Or8b54 C T 9: 38,686,850 (GRCm39) Q100* probably null Het
Oscp1 T C 4: 125,952,526 (GRCm39) L18P probably damaging Het
Pax5 A G 4: 44,537,462 (GRCm39) S297P probably damaging Het
Phldb3 A T 7: 24,323,797 (GRCm39) D476V probably benign Het
Phlpp2 A T 8: 110,622,219 (GRCm39) I154L probably benign Het
Prx T A 7: 27,216,846 (GRCm39) V449E probably damaging Het
Psd3 A G 8: 68,416,341 (GRCm39) S519P probably benign Het
Rnf138 T G 18: 21,143,840 (GRCm39) V128G probably benign Het
Safb T A 17: 56,904,803 (GRCm39) S209T probably benign Het
Sbno1 C A 5: 124,514,212 (GRCm39) V1327L possibly damaging Het
Scarb1 A G 5: 125,377,504 (GRCm39) V176A probably damaging Het
Scd4 A G 19: 44,327,407 (GRCm39) H161R possibly damaging Het
Selenoo T A 15: 88,979,858 (GRCm39) H335Q probably damaging Het
Slfn8 A G 11: 82,894,647 (GRCm39) F664S probably benign Het
Spef2 T C 15: 9,626,217 (GRCm39) I1116M possibly damaging Het
Taf2 G A 15: 54,901,690 (GRCm39) R835W probably damaging Het
Tdrd9 A G 12: 112,006,899 (GRCm39) E921G probably damaging Het
Tectb G A 19: 55,178,302 (GRCm39) G234S possibly damaging Het
Tmc1 C T 19: 20,776,540 (GRCm39) M606I probably damaging Het
Tmed10 T A 12: 85,390,291 (GRCm39) I88F probably damaging Het
Tnfrsf11a G A 1: 105,735,880 (GRCm39) V31I unknown Het
Trp53inp2 G T 2: 155,228,088 (GRCm39) G98* probably null Het
Tssc4 A G 7: 142,623,782 (GRCm39) D30G probably damaging Het
Uaca T C 9: 60,779,311 (GRCm39) Y1233H probably benign Het
Unc13c G A 9: 73,838,235 (GRCm39) T872I probably damaging Het
Unc80 A G 1: 66,542,940 (GRCm39) H398R probably damaging Het
Vmn1r64 G A 7: 5,887,207 (GRCm39) T112I probably benign Het
Vmn1r85 A G 7: 12,818,650 (GRCm39) Y165H probably damaging Het
Vmn2r72 A T 7: 85,387,319 (GRCm39) C748* probably null Het
Wdr17 A G 8: 55,102,233 (GRCm39) W929R probably damaging Het
Yeats2 A T 16: 20,012,574 (GRCm39) K591* probably null Het
Zbtb9 T A 17: 27,193,074 (GRCm39) S160T probably damaging Het
Znfx1 T A 2: 166,898,827 (GRCm39) R32S probably damaging Het
Zng1 T C 19: 24,930,684 (GRCm39) M122V possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGAGAGTCCTCTGTTGTAGGGCATAAG -3'
(R):5'- ACATCCTCAGGTCCACCACTATTAGTC -3'

Sequencing Primer
(F):5'- GTGTGTTGCTGAAACTTAACCAG -3'
(R):5'- GTTTGGGTATACATTTCTCCAATGC -3'
Posted On 2013-07-30