Incidental Mutation 'R9530:Herc4'
| ID |
719445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Herc4
|
| Ensembl Gene |
ENSMUSG00000020064 |
| Gene Name |
hect domain and RLD 4 |
| Synonyms |
4921531D01Rik, 1700056O17Rik, 9530080M15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R9530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
63079589-63153657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63126382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 578
(I578T)
|
| 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: I578T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: I578T
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000219577
AA Change: I578T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,165 (GRCm39) |
N96S |
possibly damaging |
Het |
| Acsl6 |
C |
T |
11: 54,220,783 (GRCm39) |
T301I |
probably damaging |
Het |
| Ankrd7 |
C |
A |
6: 18,868,258 (GRCm39) |
Q127K |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,064,612 (GRCm39) |
M155V |
probably benign |
Het |
| Appbp2 |
A |
C |
11: 85,107,306 (GRCm39) |
C61W |
probably damaging |
Het |
| Atosb |
C |
T |
4: 43,034,753 (GRCm39) |
R322Q |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Cd163 |
G |
T |
6: 124,294,491 (GRCm39) |
E550* |
probably null |
Het |
| Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,848,311 (GRCm39) |
S304P |
possibly damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,175,411 (GRCm39) |
I922T |
possibly damaging |
Het |
| Erbb3 |
T |
C |
10: 128,410,291 (GRCm39) |
I656V |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,248,910 (GRCm39) |
I1363K |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,963,069 (GRCm39) |
V201A |
probably benign |
Het |
| Heatr1 |
G |
A |
13: 12,439,607 (GRCm39) |
R1395H |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,602,899 (GRCm39) |
L526* |
probably null |
Het |
| Ighv5-9 |
A |
G |
12: 113,625,677 (GRCm39) |
M22T |
probably benign |
Het |
| Klhl36 |
A |
G |
8: 120,591,808 (GRCm39) |
E17G |
possibly damaging |
Het |
| Mast2 |
A |
C |
4: 116,169,535 (GRCm39) |
L766R |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,030,124 (GRCm39) |
V420M |
probably benign |
Het |
| Met |
T |
C |
6: 17,558,831 (GRCm39) |
V1153A |
probably damaging |
Het |
| Mrpl21 |
T |
A |
19: 3,340,998 (GRCm39) |
I196N |
possibly damaging |
Het |
| Or7g21 |
G |
A |
9: 19,033,051 (GRCm39) |
V264I |
probably benign |
Het |
| Polrmt |
C |
T |
10: 79,574,545 (GRCm39) |
A883T |
probably benign |
Het |
| Prkcg |
G |
A |
7: 3,375,965 (GRCm39) |
D537N |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,579,655 (GRCm39) |
D452E |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,879,269 (GRCm39) |
D585G |
probably null |
Het |
| St18 |
T |
A |
1: 6,872,997 (GRCm39) |
I244N |
probably benign |
Het |
| Stat1 |
T |
A |
1: 52,187,160 (GRCm39) |
|
probably null |
Het |
| Stk39 |
A |
G |
2: 68,198,755 (GRCm39) |
Y288H |
probably damaging |
Het |
| Tas2r140 |
G |
A |
6: 133,032,494 (GRCm39) |
S88F |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,072,507 (GRCm39) |
E308G |
probably damaging |
Het |
| Tcf7l1 |
T |
C |
6: 72,604,687 (GRCm39) |
T486A |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,343,817 (GRCm39) |
T42A |
possibly damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,779,793 (GRCm39) |
T297A |
possibly damaging |
Het |
| Triobp |
G |
C |
15: 78,886,321 (GRCm39) |
G1867R |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,104 (GRCm39) |
H6R |
probably damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,562 (GRCm39) |
I7N |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,639 (GRCm39) |
S294T |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,340,633 (GRCm39) |
V197A |
probably benign |
Het |
| Zcchc4 |
CAGAG |
CAG |
5: 52,953,568 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,527,010 (GRCm39) |
E969G |
probably damaging |
Het |
| Zfp112 |
G |
T |
7: 23,824,665 (GRCm39) |
C215F |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,514 (GRCm39) |
L145Q |
probably damaging |
Het |
|
| Other mutations in Herc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
Z1176:Herc4
|
UTSW |
10 |
63,143,528 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTGCTCTAGAAGAAAAGTTAG -3'
(R):5'- TTGTAGGCTACAGATGCCTAAC -3'
Sequencing Primer
(F):5'- CTGGTGGTCAGTACTTGA -3'
(R):5'- GTAGGCTACAGATGCCTAACAAAGAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation