Incidental Mutation 'IGL01631:Herc6'
| ID |
93463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Herc6
|
| Ensembl Gene |
ENSMUSG00000029798 |
| Gene Name |
hect domain and RLD 6 |
| Synonyms |
Herc5, 2510038N07Rik, 4930427L17Rik, 1700121D12Rik, CEB1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57581092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 264
(S264F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031817]
|
| AlphaFold |
F2Z461 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031817
AA Change: S264F
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: S264F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
40 |
89 |
1.9e-12 |
PFAM |
|
Pfam:RCC1
|
92 |
142 |
4.8e-17 |
PFAM |
|
Pfam:RCC1_2
|
129 |
158 |
3.4e-14 |
PFAM |
|
Pfam:RCC1
|
145 |
195 |
1.6e-18 |
PFAM |
|
Pfam:RCC1_2
|
183 |
211 |
1e-8 |
PFAM |
|
Pfam:RCC1
|
198 |
250 |
2e-10 |
PFAM |
|
Pfam:RCC1_2
|
237 |
266 |
4e-10 |
PFAM |
|
Pfam:RCC1
|
253 |
301 |
4.8e-9 |
PFAM |
|
low complexity region
|
359 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
626 |
N/A |
INTRINSIC |
|
HECTc
|
677 |
1003 |
1.03e-57 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204843
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HERC6 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apip |
C |
A |
2: 102,904,194 (GRCm39) |
|
probably benign |
Het |
| Arid4a |
C |
T |
12: 71,069,036 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,847,666 (GRCm39) |
E98D |
probably damaging |
Het |
| Cactin |
A |
G |
10: 81,159,058 (GRCm39) |
E303G |
probably benign |
Het |
| Ccdc181 |
T |
A |
1: 164,107,713 (GRCm39) |
I132K |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,608,472 (GRCm39) |
E756G |
probably damaging |
Het |
| Ctsf |
T |
C |
19: 4,908,106 (GRCm39) |
L217P |
probably damaging |
Het |
| Dmp1 |
G |
T |
5: 104,360,734 (GRCm39) |
R470L |
probably benign |
Het |
| Dnajc9 |
T |
C |
14: 20,438,176 (GRCm39) |
D142G |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,661 (GRCm39) |
R84S |
probably benign |
Het |
| Gm1110 |
A |
T |
9: 26,809,212 (GRCm39) |
|
probably null |
Het |
| Has2 |
A |
G |
15: 56,545,072 (GRCm39) |
S177P |
possibly damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,395,974 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
G |
12: 84,855,920 (GRCm39) |
|
probably null |
Het |
| Map4 |
A |
G |
9: 109,892,201 (GRCm39) |
|
probably benign |
Het |
| Marchf4 |
T |
A |
1: 72,491,690 (GRCm39) |
K194* |
probably null |
Het |
| Megf10 |
A |
G |
18: 57,392,869 (GRCm39) |
D422G |
possibly damaging |
Het |
| Mfsd2a |
C |
A |
4: 122,843,100 (GRCm39) |
A394S |
probably benign |
Het |
| Mmp27 |
T |
C |
9: 7,573,289 (GRCm39) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 123,161,560 (GRCm39) |
Y370H |
possibly damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,129 (GRCm39) |
D189G |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,089,015 (GRCm39) |
H111R |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,088,220 (GRCm39) |
H859Y |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,479,399 (GRCm39) |
E1209D |
probably benign |
Het |
| Rhot1 |
C |
T |
11: 80,156,600 (GRCm39) |
T636M |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,163,342 (GRCm39) |
A19S |
possibly damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,101,569 (GRCm39) |
S657L |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,101,570 (GRCm39) |
S657T |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,077,714 (GRCm39) |
T450A |
probably benign |
Het |
| Slc25a1 |
C |
T |
16: 17,743,930 (GRCm39) |
C262Y |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,104,361 (GRCm39) |
S288P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,744 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,724,495 (GRCm39) |
I228M |
probably damaging |
Het |
| Ssu2 |
T |
C |
6: 112,351,843 (GRCm39) |
Y294C |
probably damaging |
Het |
| Terb1 |
A |
G |
8: 105,199,496 (GRCm39) |
S483P |
probably damaging |
Het |
| Tsga13 |
T |
C |
6: 30,890,501 (GRCm39) |
K8E |
possibly damaging |
Het |
| Zbbx |
T |
G |
3: 74,985,984 (GRCm39) |
D351A |
probably damaging |
Het |
| Zfp454 |
G |
T |
11: 50,774,562 (GRCm39) |
A37D |
probably benign |
Het |
|
| Other mutations in Herc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Herc6
|
APN |
6 |
57,584,130 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00836:Herc6
|
APN |
6 |
57,596,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01289:Herc6
|
APN |
6 |
57,575,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02656:Herc6
|
APN |
6 |
57,588,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02966:Herc6
|
APN |
6 |
57,560,318 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03297:Herc6
|
APN |
6 |
57,639,374 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02835:Herc6
|
UTSW |
6 |
57,623,146 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0218:Herc6
|
UTSW |
6 |
57,596,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0470:Herc6
|
UTSW |
6 |
57,596,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0699:Herc6
|
UTSW |
6 |
57,558,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0702:Herc6
|
UTSW |
6 |
57,558,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:Herc6
|
UTSW |
6 |
57,639,347 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0850:Herc6
|
UTSW |
6 |
57,560,227 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1067:Herc6
|
UTSW |
6 |
57,639,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Herc6
|
UTSW |
6 |
57,629,050 (GRCm39) |
missense |
probably benign |
|
|
R1840:Herc6
|
UTSW |
6 |
57,635,091 (GRCm39) |
nonsense |
probably null |
|
|
R1889:Herc6
|
UTSW |
6 |
57,639,060 (GRCm39) |
nonsense |
probably null |
|
|
R1938:Herc6
|
UTSW |
6 |
57,602,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Herc6
|
UTSW |
6 |
57,560,317 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2051:Herc6
|
UTSW |
6 |
57,602,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2238:Herc6
|
UTSW |
6 |
57,631,386 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2244:Herc6
|
UTSW |
6 |
57,575,602 (GRCm39) |
nonsense |
probably null |
|
|
R4085:Herc6
|
UTSW |
6 |
57,624,054 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4410:Herc6
|
UTSW |
6 |
57,636,664 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4490:Herc6
|
UTSW |
6 |
57,631,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4599:Herc6
|
UTSW |
6 |
57,636,698 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4716:Herc6
|
UTSW |
6 |
57,575,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Herc6
|
UTSW |
6 |
57,577,045 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4761:Herc6
|
UTSW |
6 |
57,639,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4798:Herc6
|
UTSW |
6 |
57,581,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4826:Herc6
|
UTSW |
6 |
57,624,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5520:Herc6
|
UTSW |
6 |
57,624,105 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5545:Herc6
|
UTSW |
6 |
57,634,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5664:Herc6
|
UTSW |
6 |
57,595,669 (GRCm39) |
missense |
probably benign |
|
|
R5763:Herc6
|
UTSW |
6 |
57,639,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Herc6
|
UTSW |
6 |
57,623,188 (GRCm39) |
missense |
probably benign |
|
|
R6115:Herc6
|
UTSW |
6 |
57,560,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6225:Herc6
|
UTSW |
6 |
57,639,139 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7287:Herc6
|
UTSW |
6 |
57,628,965 (GRCm39) |
splice site |
probably null |
|
|
R7319:Herc6
|
UTSW |
6 |
57,581,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7375:Herc6
|
UTSW |
6 |
57,628,791 (GRCm39) |
splice site |
probably null |
|
|
R7480:Herc6
|
UTSW |
6 |
57,558,206 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7485:Herc6
|
UTSW |
6 |
57,558,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7670:Herc6
|
UTSW |
6 |
57,637,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7740:Herc6
|
UTSW |
6 |
57,636,802 (GRCm39) |
splice site |
probably null |
|
|
R7914:Herc6
|
UTSW |
6 |
57,584,106 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8356:Herc6
|
UTSW |
6 |
57,575,548 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8403:Herc6
|
UTSW |
6 |
57,560,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8456:Herc6
|
UTSW |
6 |
57,575,548 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8473:Herc6
|
UTSW |
6 |
57,624,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8696:Herc6
|
UTSW |
6 |
57,624,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8751:Herc6
|
UTSW |
6 |
57,639,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:Herc6
|
UTSW |
6 |
57,595,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9112:Herc6
|
UTSW |
6 |
57,596,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Herc6
|
UTSW |
6 |
57,636,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9210:Herc6
|
UTSW |
6 |
57,639,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Herc6
|
UTSW |
6 |
57,602,955 (GRCm39) |
nonsense |
probably null |
|
|
R9427:Herc6
|
UTSW |
6 |
57,636,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9530:Herc6
|
UTSW |
6 |
57,602,899 (GRCm39) |
nonsense |
probably null |
|
|
R9581:Herc6
|
UTSW |
6 |
57,635,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Herc6
|
UTSW |
6 |
57,629,017 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Herc6
|
UTSW |
6 |
57,577,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation