Incidental Mutation 'R0722:Herc4'
ID |
63567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Herc4
|
Ensembl Gene |
ENSMUSG00000020064 |
Gene Name |
hect domain and RLD 4 |
Synonyms |
4921531D01Rik, 1700056O17Rik, 9530080M15Rik |
MMRRC Submission |
038904-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.867)
|
Stock # |
R0722 (G1)
|
Quality Score |
110 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
63079589-63153657 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63121844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 399
(I399V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151886
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020258]
[ENSMUST00000020258]
[ENSMUST00000219577]
|
AlphaFold |
Q6PAV2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020258
AA Change: I399V
PolyPhen 2
Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000020258 Gene: ENSMUSG00000020064 AA Change: I399V
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 null
Transcript: ENSMUST00000020258
AA Change: I399V
PolyPhen 2
Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000020258 Gene: ENSMUSG00000020064 AA Change: I399V
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: ENSMUST00000218073
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219577
AA Change: I399V
PolyPhen 2
Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220097
|
Meta Mutation Damage Score |
0.1230 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.7%
|
Validation Efficiency |
97% (63/65) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap2 |
T |
C |
11: 80,047,810 (GRCm39) |
F89L |
possibly damaging |
Het |
Akr1c13 |
A |
G |
13: 4,247,931 (GRCm39) |
|
probably null |
Het |
Atp10a |
A |
G |
7: 58,465,931 (GRCm39) |
I1053V |
possibly damaging |
Het |
Bmper |
G |
T |
9: 23,285,224 (GRCm39) |
V258L |
probably benign |
Het |
Brd4 |
T |
C |
17: 32,431,956 (GRCm39) |
H636R |
possibly damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Ccbe1 |
C |
T |
18: 66,217,877 (GRCm39) |
C112Y |
probably damaging |
Het |
Ccdc28b |
T |
A |
4: 129,514,945 (GRCm39) |
|
probably null |
Het |
Cd320 |
T |
C |
17: 34,065,004 (GRCm39) |
S46P |
possibly damaging |
Het |
Cfap251 |
T |
A |
5: 123,394,248 (GRCm39) |
V379E |
probably damaging |
Het |
Cfap44 |
G |
A |
16: 44,225,039 (GRCm39) |
E95K |
possibly damaging |
Het |
Clpp |
T |
C |
17: 57,299,901 (GRCm39) |
V144A |
probably damaging |
Het |
Crtam |
A |
T |
9: 40,903,912 (GRCm39) |
C96S |
probably damaging |
Het |
Dcst1 |
C |
T |
3: 89,261,112 (GRCm39) |
R480H |
probably benign |
Het |
Dock2 |
A |
T |
11: 34,414,970 (GRCm39) |
|
probably benign |
Het |
Ermard |
A |
G |
17: 15,242,390 (GRCm39) |
T189A |
probably benign |
Het |
Gm10840 |
A |
G |
11: 106,051,902 (GRCm39) |
|
probably benign |
Het |
Gm4845 |
T |
A |
1: 141,184,598 (GRCm39) |
|
noncoding transcript |
Het |
Heatr1 |
A |
G |
13: 12,420,918 (GRCm39) |
E403G |
probably benign |
Het |
Htr1f |
A |
G |
16: 64,746,254 (GRCm39) |
I346T |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,934,382 (GRCm39) |
|
probably null |
Het |
Jmy |
G |
A |
13: 93,589,325 (GRCm39) |
T644I |
probably benign |
Het |
Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
Krt13 |
T |
G |
11: 100,009,979 (GRCm39) |
K297T |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,513,296 (GRCm39) |
|
probably null |
Het |
Lrrc8b |
T |
C |
5: 105,627,978 (GRCm39) |
V108A |
possibly damaging |
Het |
Lrrc8c |
T |
A |
5: 105,727,414 (GRCm39) |
V26E |
probably damaging |
Het |
Or10g6 |
A |
G |
9: 39,934,295 (GRCm39) |
D202G |
probably damaging |
Het |
Or5p6 |
A |
G |
7: 107,631,541 (GRCm39) |
F3S |
probably benign |
Het |
Pcna |
A |
G |
2: 132,093,155 (GRCm39) |
|
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,265,022 (GRCm39) |
R348* |
probably null |
Het |
Pikfyve |
T |
G |
1: 65,292,682 (GRCm39) |
S1378A |
probably damaging |
Het |
Pkp2 |
T |
C |
16: 16,064,892 (GRCm39) |
V472A |
probably benign |
Het |
Pld5 |
A |
G |
1: 175,803,081 (GRCm39) |
F395L |
probably benign |
Het |
Plekhb1 |
A |
T |
7: 100,294,810 (GRCm39) |
Y169N |
probably damaging |
Het |
Polr2c |
T |
A |
8: 95,589,265 (GRCm39) |
Y186N |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Prr5l |
A |
G |
2: 101,547,819 (GRCm39) |
|
probably benign |
Het |
Ptbp2 |
C |
T |
3: 119,514,570 (GRCm39) |
R419Q |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,230,451 (GRCm39) |
V1038A |
probably damaging |
Het |
Rassf2 |
A |
G |
2: 131,844,830 (GRCm39) |
V204A |
probably damaging |
Het |
Slc22a22 |
T |
C |
15: 57,119,949 (GRCm39) |
|
probably null |
Het |
Slit1 |
T |
C |
19: 41,596,874 (GRCm39) |
Y1075C |
probably damaging |
Het |
Smc5 |
C |
A |
19: 23,186,291 (GRCm39) |
L1055F |
probably damaging |
Het |
Spidr |
A |
G |
16: 15,730,645 (GRCm39) |
F620S |
probably damaging |
Het |
Susd1 |
A |
G |
4: 59,379,749 (GRCm39) |
S293P |
possibly damaging |
Het |
Tepsin |
A |
G |
11: 119,986,163 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
A |
T |
7: 84,870,794 (GRCm39) |
L830I |
possibly damaging |
Het |
Vtn |
A |
G |
11: 78,391,680 (GRCm39) |
|
probably benign |
Het |
Zfp267 |
C |
T |
3: 36,219,218 (GRCm39) |
H414Y |
probably benign |
Het |
Zfp280d |
T |
G |
9: 72,219,383 (GRCm39) |
S162A |
possibly damaging |
Het |
Zfp608 |
T |
G |
18: 55,033,306 (GRCm39) |
K409T |
probably damaging |
Het |
Zfp738 |
A |
T |
13: 67,819,643 (GRCm39) |
M116K |
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 |
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'- CCTGTTTCTGGGATGAAGGGAAGGA -3'
(R):5'- GTGCCATGTCATCAGCTAGGGTTT -3'
Sequencing Primer
(F):5'- TTTCTCAGGTGGAGATCAAAGC -3'
(R):5'- TTCCTGTCTGAAAGGACTAGAGC -3'
|
Posted On |
2013-07-30 |