Incidental Mutation 'IGL02407:Herc4'
| ID |
292124 |
| 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)
|
| Stock # |
IGL02407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
63079589-63153657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 63142203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 668
(T668K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020258]
[ENSMUST00000219577]
|
| AlphaFold |
Q6PAV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020258
AA Change: T668K
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: T668K
| 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 |
noncoding transcript
Transcript: ENSMUST00000219279
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219577
AA Change: T676K
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,645,575 (GRCm39) |
W1040* |
probably null |
Het |
| Adgrv1 |
C |
A |
13: 81,627,789 (GRCm39) |
A3691S |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,718,295 (GRCm39) |
Y345* |
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,069,823 (GRCm39) |
Y496* |
probably null |
Het |
| Ash1l |
T |
C |
3: 88,979,855 (GRCm39) |
V2793A |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,668,853 (GRCm39) |
D575E |
probably benign |
Het |
| Ceacam20 |
G |
T |
7: 19,704,332 (GRCm39) |
V128F |
probably benign |
Het |
| Cers4 |
A |
T |
8: 4,570,306 (GRCm39) |
K204* |
probably null |
Het |
| Cog1 |
T |
C |
11: 113,544,852 (GRCm39) |
Y345H |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,312,272 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
A |
T |
1: 24,351,453 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
T |
A |
15: 30,966,914 (GRCm39) |
M955K |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,388,652 (GRCm39) |
M275K |
probably damaging |
Het |
| Degs2 |
T |
G |
12: 108,658,254 (GRCm39) |
T242P |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,890,001 (GRCm39) |
V612A |
probably benign |
Het |
| Elovl6 |
T |
A |
3: 129,398,733 (GRCm39) |
F45I |
probably damaging |
Het |
| Exoc1 |
A |
C |
5: 76,693,193 (GRCm39) |
N360H |
probably damaging |
Het |
| Fam221b |
A |
T |
4: 43,666,309 (GRCm39) |
S101T |
possibly damaging |
Het |
| Garre1 |
A |
T |
7: 33,955,909 (GRCm39) |
N393K |
probably damaging |
Het |
| Glyr1 |
A |
G |
16: 4,854,812 (GRCm39) |
F89L |
probably benign |
Het |
| Hibadh |
C |
T |
6: 52,525,874 (GRCm39) |
V259I |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,967,983 (GRCm39) |
D397E |
probably damaging |
Het |
| Ift80 |
G |
T |
3: 68,805,869 (GRCm39) |
D724E |
probably benign |
Het |
| Igkv3-10 |
T |
C |
6: 70,550,223 (GRCm39) |
|
probably benign |
Het |
| Irf9 |
G |
T |
14: 55,842,678 (GRCm39) |
A75S |
possibly damaging |
Het |
| Kif13a |
C |
T |
13: 46,938,769 (GRCm39) |
V76M |
probably damaging |
Het |
| Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
| Lgals8 |
A |
G |
13: 12,469,699 (GRCm39) |
W87R |
probably benign |
Het |
| Mccc2 |
G |
A |
13: 100,127,816 (GRCm39) |
P96L |
probably damaging |
Het |
| Megf11 |
A |
C |
9: 64,587,531 (GRCm39) |
D443A |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,321,008 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
A |
G |
2: 25,139,281 (GRCm39) |
V230A |
probably benign |
Het |
| Nif3l1 |
G |
T |
1: 58,496,956 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or4k39 |
T |
A |
2: 111,238,923 (GRCm39) |
|
noncoding transcript |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,128 (GRCm39) |
Y169N |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,710,635 (GRCm39) |
I1529T |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,279,915 (GRCm39) |
I219F |
probably damaging |
Het |
| Prpf38a |
G |
A |
4: 108,424,836 (GRCm39) |
R242W |
unknown |
Het |
| Prrc2a |
A |
T |
17: 35,379,480 (GRCm39) |
D255E |
unknown |
Het |
| Rapgef6 |
G |
T |
11: 54,567,181 (GRCm39) |
D1121Y |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,585,303 (GRCm39) |
H2761L |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,810,042 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,510,065 (GRCm39) |
D539G |
probably damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,826,777 (GRCm39) |
S172G |
probably benign |
Het |
| Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
| Smurf1 |
A |
T |
5: 144,821,534 (GRCm39) |
M496K |
probably damaging |
Het |
| Srgap2 |
A |
T |
1: 131,247,340 (GRCm39) |
V564D |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,430,576 (GRCm39) |
I162T |
probably benign |
Het |
| Tchhl1 |
A |
T |
3: 93,378,634 (GRCm39) |
N446I |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,584 (GRCm39) |
H211Q |
probably damaging |
Het |
| Trim3 |
T |
C |
7: 105,262,218 (GRCm39) |
N586S |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,868,869 (GRCm39) |
E507G |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,020,523 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,365,316 (GRCm39) |
K310* |
probably null |
Het |
| Unc13a |
T |
A |
8: 72,101,586 (GRCm39) |
N1022Y |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,228 (GRCm39) |
N38Y |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,770 (GRCm39) |
I161F |
probably damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,243,108 (GRCm39) |
M25T |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,323,795 (GRCm39) |
R130Q |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,802 (GRCm39) |
S724G |
probably benign |
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 |
|
|
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 |
Incidental Mutation