Incidental Mutation 'R5215:Herc4'
| ID |
403428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Herc4
|
| Ensembl Gene |
ENSMUSG00000020064 |
| Gene Name |
hect domain and RLD 4 |
| Synonyms |
4921531D01Rik, 1700056O17Rik, 9530080M15Rik |
| MMRRC Submission |
042788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.855)
|
| Stock # |
R5215 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
63079589-63153657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63124876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 497
(S497T)
|
| 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: S497T
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: S497T
| 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: ENSMUST00000181342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218073
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219577
AA Change: S497T
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220097
|
| Meta Mutation Damage Score |
0.0909 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (79/79) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alas1 |
C |
A |
9: 106,120,574 (GRCm39) |
A73S |
probably benign |
Het |
| Aldoart2 |
G |
A |
12: 55,612,204 (GRCm39) |
R43Q |
probably benign |
Het |
| Ano4 |
T |
C |
10: 89,153,165 (GRCm39) |
H49R |
possibly damaging |
Het |
| Atic |
T |
C |
1: 71,603,666 (GRCm39) |
S161P |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,341,659 (GRCm39) |
E244G |
probably benign |
Het |
| Cd164l2 |
C |
A |
4: 132,948,789 (GRCm39) |
L42I |
unknown |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,238 (GRCm39) |
R156G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdk5 |
T |
A |
5: 24,624,459 (GRCm39) |
N265I |
probably benign |
Het |
| Cfap69 |
G |
T |
5: 5,639,133 (GRCm39) |
N262K |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,791,873 (GRCm39) |
V2495M |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,205,539 (GRCm39) |
F521I |
possibly damaging |
Het |
| Crb2 |
A |
G |
2: 37,683,765 (GRCm39) |
E1089G |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,929,795 (GRCm39) |
D166G |
probably damaging |
Het |
| Dhodh |
G |
A |
8: 110,332,975 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
G |
A |
5: 139,147,632 (GRCm39) |
V399I |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,121,096 (GRCm39) |
T526A |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,885,219 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
A |
15: 78,558,401 (GRCm39) |
I49F |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,045,655 (GRCm39) |
T152A |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,292,988 (GRCm39) |
T85K |
probably damaging |
Het |
| Gimap8 |
A |
T |
6: 48,628,017 (GRCm39) |
Y258F |
possibly damaging |
Het |
| Glmn |
A |
G |
5: 107,709,752 (GRCm39) |
C351R |
probably benign |
Het |
| Gm10032 |
T |
C |
14: 67,029,998 (GRCm39) |
|
noncoding transcript |
Het |
| Gorasp2 |
G |
A |
2: 70,519,598 (GRCm39) |
A328T |
probably benign |
Het |
| Grin1 |
A |
T |
2: 25,193,919 (GRCm39) |
H392Q |
probably benign |
Het |
| Gzmn |
A |
G |
14: 56,405,319 (GRCm39) |
V55A |
probably damaging |
Het |
| Hrc |
A |
T |
7: 44,985,515 (GRCm39) |
D222V |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,026,966 (GRCm39) |
H761R |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,076,480 (GRCm39) |
D2101E |
possibly damaging |
Het |
| Kcng1 |
C |
T |
2: 168,105,053 (GRCm39) |
M264I |
probably benign |
Het |
| Klra14-ps |
C |
A |
6: 130,134,646 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,974 (GRCm39) |
C270* |
probably null |
Het |
| Lama3 |
A |
G |
18: 12,710,957 (GRCm39) |
H3164R |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,574,371 (GRCm39) |
I1042T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,741,418 (GRCm39) |
M3840T |
possibly damaging |
Het |
| Mtor |
A |
T |
4: 148,538,440 (GRCm39) |
H166L |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,249,560 (GRCm39) |
N556D |
possibly damaging |
Het |
| Oca2 |
A |
T |
7: 55,945,246 (GRCm39) |
R285* |
probably null |
Het |
| Or12d13 |
T |
A |
17: 37,647,704 (GRCm39) |
I140F |
probably benign |
Het |
| Or2at1 |
A |
G |
7: 99,416,717 (GRCm39) |
E116G |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,631 (GRCm39) |
|
noncoding transcript |
Het |
| Or56a3b |
G |
A |
7: 104,775,771 (GRCm39) |
H246Y |
probably damaging |
Het |
| Or8g33 |
A |
T |
9: 39,337,919 (GRCm39) |
Y149* |
probably null |
Het |
| Pan3 |
A |
G |
5: 147,391,915 (GRCm39) |
|
probably null |
Het |
| Pard3 |
G |
A |
8: 128,104,745 (GRCm39) |
V496M |
probably damaging |
Het |
| Pdcd2l |
A |
T |
7: 33,892,314 (GRCm39) |
V185D |
possibly damaging |
Het |
| Pgghg |
T |
C |
7: 140,526,477 (GRCm39) |
V623A |
possibly damaging |
Het |
| Pigu |
C |
A |
2: 155,177,249 (GRCm39) |
|
probably benign |
Het |
| Pkmyt1 |
G |
A |
17: 23,951,566 (GRCm39) |
R40Q |
probably benign |
Het |
| Prag1 |
G |
A |
8: 36,567,043 (GRCm39) |
A65T |
probably benign |
Het |
| Prkdc |
C |
A |
16: 15,589,985 (GRCm39) |
T2616N |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,391,030 (GRCm39) |
E1360K |
probably benign |
Het |
| Ptprt |
C |
T |
2: 162,120,084 (GRCm39) |
V128M |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,462 (GRCm39) |
S1016L |
probably benign |
Het |
| Rprd1a |
G |
T |
18: 24,621,257 (GRCm39) |
D307E |
probably damaging |
Het |
| Slc11a1 |
A |
T |
1: 74,422,936 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,457,386 (GRCm39) |
M209K |
probably damaging |
Het |
| Slf2 |
T |
G |
19: 44,936,476 (GRCm39) |
L707R |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,563 (GRCm39) |
M770K |
probably damaging |
Het |
| Taf6l |
T |
C |
19: 8,755,417 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
C |
A |
4: 46,614,006 (GRCm39) |
V692L |
probably benign |
Het |
| Tnpo3 |
C |
T |
6: 29,582,152 (GRCm39) |
|
probably benign |
Het |
| Txndc16 |
A |
T |
14: 45,448,597 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,525 (GRCm39) |
K1125R |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,994,351 (GRCm39) |
S433P |
probably benign |
Het |
| Zc3h12a |
A |
G |
4: 125,020,706 (GRCm39) |
S46P |
probably benign |
Het |
| Zwilch |
T |
G |
9: 64,054,156 (GRCm39) |
I490L |
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 |
|
|
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 |
|
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'- CGTTCCAACATACATCACTGAAAGATG -3'
(R):5'- GTCTCATCAAGAATAAGCAAGGCAG -3'
Sequencing Primer
(F):5'- CATCACTGAAAGATGTCCATTTTATG -3'
(R):5'- CAAGGCAGGAAAATTTCAAACAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation