Incidental Mutation 'R9176:Herc6'
ID |
696667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Herc6
|
Ensembl Gene |
ENSMUSG00000029798 |
Gene Name |
hect domain and RLD 6 |
Synonyms |
Herc5, 2510038N07Rik, 4930427L17Rik, 1700121D12Rik, CEB1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9176 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57636663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 793
(N793S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031817]
|
AlphaFold |
F2Z461 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031817
AA Change: N793S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000031817 Gene: ENSMUSG00000029798 AA Change: N793S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (70/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
C |
5: 146,121,004 (GRCm39) |
D119G |
probably damaging |
Het |
1700123K08Rik |
T |
C |
5: 138,561,155 (GRCm39) |
D169G |
probably damaging |
Het |
Abcd2 |
T |
G |
15: 91,075,623 (GRCm39) |
R63S |
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
Avil |
T |
C |
10: 126,852,248 (GRCm39) |
Y678H |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,010,852 (GRCm39) |
V1750E |
possibly damaging |
Het |
Cd300ld2 |
C |
A |
11: 114,904,772 (GRCm39) |
E32* |
probably null |
Het |
Chuk |
A |
T |
19: 44,076,442 (GRCm39) |
L423Q |
probably damaging |
Het |
Cisd3 |
A |
G |
11: 97,579,127 (GRCm39) |
T90A |
probably damaging |
Het |
Cmpk2 |
T |
A |
12: 26,524,027 (GRCm39) |
S275T |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,620,730 (GRCm39) |
N936K |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
G |
T |
1: 82,463,349 (GRCm39) |
P1047Q |
unknown |
Het |
Col6a4 |
A |
G |
9: 105,938,755 (GRCm39) |
L1321P |
probably damaging |
Het |
Crat |
A |
G |
2: 30,297,892 (GRCm39) |
F211L |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,864,937 (GRCm39) |
Q27R |
|
Het |
Dapk1 |
T |
C |
13: 60,866,262 (GRCm39) |
V205A |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,586,158 (GRCm39) |
N729S |
probably benign |
Het |
Derl2 |
A |
G |
11: 70,904,376 (GRCm39) |
V139A |
possibly damaging |
Het |
Dscam |
C |
T |
16: 96,486,553 (GRCm39) |
D1041N |
probably benign |
Het |
Fbxo2 |
A |
T |
4: 148,250,147 (GRCm39) |
R226W |
probably damaging |
Het |
Fhip1b |
A |
C |
7: 105,030,585 (GRCm39) |
H180Q |
probably benign |
Het |
Fhip2b |
T |
C |
14: 70,826,540 (GRCm39) |
K183E |
probably benign |
Het |
Gpr19 |
A |
G |
6: 134,846,718 (GRCm39) |
S322P |
probably damaging |
Het |
Gvin2 |
T |
C |
7: 105,551,262 (GRCm39) |
K597E |
possibly damaging |
Het |
Ikbke |
A |
T |
1: 131,191,025 (GRCm39) |
S563T |
probably benign |
Het |
Il1r2 |
T |
C |
1: 40,144,478 (GRCm39) |
L55P |
probably damaging |
Het |
Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
Lims1 |
T |
G |
10: 58,254,265 (GRCm39) |
C340G |
probably damaging |
Het |
Loxl3 |
G |
A |
6: 83,026,292 (GRCm39) |
C460Y |
probably damaging |
Het |
Mapk9 |
T |
A |
11: 49,763,565 (GRCm39) |
L152* |
probably null |
Het |
Mef2d |
T |
C |
3: 88,066,463 (GRCm39) |
V144A |
possibly damaging |
Het |
Mertk |
A |
G |
2: 128,620,892 (GRCm39) |
D578G |
possibly damaging |
Het |
Mettl1 |
C |
A |
10: 126,881,250 (GRCm39) |
Q254K |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,707 (GRCm39) |
E443G |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,138,241 (GRCm39) |
F484L |
probably damaging |
Het |
Neurl1b |
C |
T |
17: 26,660,055 (GRCm39) |
T425I |
possibly damaging |
Het |
Nomo1 |
G |
A |
7: 45,730,828 (GRCm39) |
V1104M |
possibly damaging |
Het |
Or13a19 |
G |
T |
7: 139,903,121 (GRCm39) |
G170C |
probably damaging |
Het |
Or13p8 |
T |
A |
4: 118,583,850 (GRCm39) |
Y135* |
probably null |
Het |
Or4c10b |
T |
C |
2: 89,711,515 (GRCm39) |
V115A |
probably benign |
Het |
Or5b95 |
A |
G |
19: 12,657,600 (GRCm39) |
M43V |
probably benign |
Het |
Or5p57 |
A |
G |
7: 107,665,246 (GRCm39) |
V223A |
probably benign |
Het |
Or8g20 |
T |
A |
9: 39,396,247 (GRCm39) |
M98L |
probably benign |
Het |
Or9i2 |
A |
G |
19: 13,815,796 (GRCm39) |
V247A |
probably damaging |
Het |
Parp4 |
A |
G |
14: 56,873,274 (GRCm39) |
K1173E |
possibly damaging |
Het |
Phkb |
T |
A |
8: 86,697,623 (GRCm39) |
N477K |
probably damaging |
Het |
Plekha7 |
T |
G |
7: 115,739,926 (GRCm39) |
I812L |
possibly damaging |
Het |
Plxnb1 |
A |
G |
9: 108,941,651 (GRCm39) |
T1711A |
probably damaging |
Het |
Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
Pomt2 |
T |
A |
12: 87,194,451 (GRCm39) |
|
probably benign |
Het |
Prdm1 |
T |
C |
10: 44,316,123 (GRCm39) |
H671R |
probably damaging |
Het |
Prkca |
G |
A |
11: 107,870,244 (GRCm39) |
R15C |
possibly damaging |
Het |
Prkch |
T |
A |
12: 73,746,968 (GRCm39) |
N282K |
probably damaging |
Het |
Ptpn6 |
T |
C |
6: 124,702,249 (GRCm39) |
R385G |
probably benign |
Het |
Rad21 |
A |
T |
15: 51,841,455 (GRCm39) |
M87K |
probably damaging |
Het |
Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
Scn1a |
A |
T |
2: 66,103,689 (GRCm39) |
V1857E |
probably damaging |
Het |
Shprh |
A |
G |
10: 11,036,320 (GRCm39) |
T386A |
probably benign |
Het |
Slco1b2 |
T |
C |
6: 141,598,229 (GRCm39) |
L94P |
probably damaging |
Het |
Snx29 |
A |
G |
16: 11,236,728 (GRCm39) |
N90D |
probably benign |
Het |
Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,089,363 (GRCm39) |
T584A |
probably benign |
Het |
Tktl2 |
T |
C |
8: 66,964,664 (GRCm39) |
V74A |
probably damaging |
Het |
Tpp2 |
A |
G |
1: 44,031,553 (GRCm39) |
N1124D |
probably null |
Het |
Trpv1 |
A |
T |
11: 73,130,481 (GRCm39) |
T196S |
probably benign |
Het |
Ulk4 |
T |
C |
9: 120,974,128 (GRCm39) |
E968G |
probably benign |
Het |
Zbtb8a |
G |
T |
4: 129,254,221 (GRCm39) |
T91K |
probably damaging |
Het |
Zfp317 |
T |
A |
9: 19,559,163 (GRCm39) |
V459E |
probably damaging |
Het |
Zfp790 |
A |
G |
7: 29,529,387 (GRCm39) |
T691A |
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 |
IGL01631:Herc6
|
APN |
6 |
57,581,092 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TATCAATGAGGTAGAGCAGACTAAC -3'
(R):5'- CCAGCAACTCCTTGTGACAC -3'
Sequencing Primer
(F):5'- GGTAGAGCAGACTAACAAATCAAATC -3'
(R):5'- GCAACTCCTTGTGACACTAAAAC -3'
|
Posted On |
2022-02-07 |