Incidental Mutation 'R1742:Herc4'
| ID |
200439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Herc4
|
| Ensembl Gene |
ENSMUSG00000020064 |
| Gene Name |
hect domain and RLD 4 |
| Synonyms |
4921531D01Rik, 1700056O17Rik, 9530080M15Rik |
| MMRRC Submission |
039774-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R1742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
63079589-63153657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 63123728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 461
(N461K)
|
| 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: N461K
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: N461K
| 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: N461K
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220097
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
C |
A |
18: 36,758,318 (GRCm39) |
A1004E |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,708,900 (GRCm39) |
S1071G |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,257,133 (GRCm39) |
I1228N |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bptf |
A |
G |
11: 107,001,777 (GRCm39) |
V445A |
probably damaging |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,599,521 (GRCm39) |
S779T |
probably damaging |
Het |
| Ccdc54 |
T |
C |
16: 50,410,601 (GRCm39) |
K222E |
possibly damaging |
Het |
| Cebpe |
A |
G |
14: 54,949,057 (GRCm39) |
V120A |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,507,647 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
C |
T |
15: 71,673,762 (GRCm39) |
G985S |
unknown |
Het |
| Col6a3 |
T |
A |
1: 90,741,516 (GRCm39) |
I639F |
probably damaging |
Het |
| Cryga |
C |
A |
1: 65,142,280 (GRCm39) |
V38L |
probably benign |
Het |
| Dll3 |
T |
C |
7: 27,993,848 (GRCm39) |
T530A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,582,315 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
G |
A |
1: 53,495,843 (GRCm39) |
P3205S |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,372,935 (GRCm39) |
Y224F |
probably damaging |
Het |
| Eif1ad10 |
C |
T |
12: 88,216,453 (GRCm39) |
D140N |
unknown |
Het |
| Fcrl2 |
T |
C |
3: 87,166,350 (GRCm39) |
T142A |
possibly damaging |
Het |
| Fyttd1 |
C |
T |
16: 32,725,923 (GRCm39) |
R175* |
probably null |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gpr33 |
T |
C |
12: 52,071,045 (GRCm39) |
|
probably null |
Het |
| Gse1 |
T |
A |
8: 121,293,689 (GRCm39) |
V205E |
probably damaging |
Het |
| Ifi206 |
G |
A |
1: 173,309,537 (GRCm39) |
T153I |
probably benign |
Het |
| Iqca1 |
T |
C |
1: 90,025,773 (GRCm39) |
I341V |
probably benign |
Het |
| Itsn1 |
T |
G |
16: 91,613,847 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
A |
14: 20,191,925 (GRCm39) |
Y412F |
probably benign |
Het |
| Lemd1 |
T |
A |
1: 132,156,036 (GRCm39) |
I26K |
probably damaging |
Het |
| Lipc |
A |
T |
9: 70,727,811 (GRCm39) |
L12Q |
probably damaging |
Het |
| Lrrtm1 |
C |
A |
6: 77,221,074 (GRCm39) |
P177Q |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,657,379 (GRCm39) |
G73R |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,319,447 (GRCm39) |
D99G |
probably damaging |
Het |
| Myh11 |
A |
T |
16: 14,037,908 (GRCm39) |
L899Q |
probably damaging |
Het |
| Myo18a |
G |
T |
11: 77,732,293 (GRCm39) |
R822L |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,605,074 (GRCm39) |
T1000A |
probably benign |
Het |
| Nox4 |
T |
C |
7: 86,945,026 (GRCm39) |
V94A |
possibly damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,083,122 (GRCm39) |
N280K |
probably benign |
Het |
| Or4c123 |
G |
T |
2: 89,126,768 (GRCm39) |
P282H |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
| Oxr1 |
T |
C |
15: 41,713,955 (GRCm39) |
L679P |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,619,629 (GRCm39) |
I473T |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,107,046 (GRCm39) |
E165D |
probably damaging |
Het |
| Pgpep1l |
A |
T |
7: 67,886,802 (GRCm39) |
V169D |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,900,312 (GRCm39) |
T136I |
probably benign |
Het |
| Pif1 |
T |
A |
9: 65,495,132 (GRCm39) |
M14K |
probably benign |
Het |
| Pigr |
A |
G |
1: 130,772,823 (GRCm39) |
E347G |
probably damaging |
Het |
| Plekha3 |
G |
A |
2: 76,513,223 (GRCm39) |
E103K |
possibly damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,980,150 (GRCm39) |
I363V |
probably damaging |
Het |
| Rasl11a |
T |
A |
5: 146,783,805 (GRCm39) |
|
probably null |
Het |
| Recql |
T |
C |
6: 142,310,298 (GRCm39) |
T511A |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,197 (GRCm39) |
|
probably null |
Het |
| Rpp25l |
T |
C |
4: 41,712,763 (GRCm39) |
Y4C |
probably damaging |
Het |
| Sass6 |
T |
G |
3: 116,401,126 (GRCm39) |
C156G |
probably damaging |
Het |
| Sgta |
T |
G |
10: 80,882,111 (GRCm39) |
N288T |
probably damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,770,771 (GRCm39) |
T282S |
probably benign |
Het |
| Smad4 |
T |
C |
18: 73,808,968 (GRCm39) |
R100G |
probably damaging |
Het |
| Sox8 |
C |
T |
17: 25,786,915 (GRCm39) |
V263M |
probably damaging |
Het |
| Sp8 |
A |
G |
12: 118,813,552 (GRCm39) |
H469R |
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,175,378 (GRCm39) |
|
probably null |
Het |
| Taar7a |
G |
A |
10: 23,869,117 (GRCm39) |
S88F |
probably damaging |
Het |
| Tnks2 |
T |
C |
19: 36,853,661 (GRCm39) |
L749S |
probably damaging |
Het |
| Tollip |
C |
A |
7: 141,446,592 (GRCm39) |
R19L |
probably damaging |
Het |
| Tox2 |
G |
A |
2: 163,067,446 (GRCm39) |
R55H |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,177,636 (GRCm39) |
E456G |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,543 (GRCm39) |
N65K |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,644,513 (GRCm39) |
M2456T |
probably benign |
Het |
| Zfp526 |
A |
G |
7: 24,923,939 (GRCm39) |
N66S |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,243,629 (GRCm39) |
Y446C |
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 |
|
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'- GTACCtcctccccactcagcc -3'
(R):5'- ACAGTTGCCTAAGCATTGCGAAGAA -3'
Sequencing Primer
(F):5'- ccccactcagcctctcttac -3'
(R):5'- agccatctcaccagccc -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation