Incidental Mutation 'R6225:Herc6'
| ID |
504259 |
| 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 |
044356-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6225 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57557985-57641617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57639139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 867
(V867L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031817]
|
| AlphaFold |
F2Z461 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031817
AA Change: V867L
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031817
Gene: ENSMUSG00000029798
AA Change: V867L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,870,445 (GRCm39) |
H288R |
possibly damaging |
Het |
| Adh1 |
T |
C |
3: 137,995,565 (GRCm39) |
F323L |
probably benign |
Het |
| Adss1 |
A |
C |
12: 112,600,837 (GRCm39) |
H226P |
probably damaging |
Het |
| Ahrr |
A |
G |
13: 74,371,031 (GRCm39) |
S230P |
possibly damaging |
Het |
| Akap9 |
T |
C |
5: 4,012,105 (GRCm39) |
V936A |
probably damaging |
Het |
| B4galnt2 |
A |
G |
11: 95,759,268 (GRCm39) |
Y339H |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,002,453 (GRCm39) |
V1466A |
probably damaging |
Het |
| C4b |
C |
A |
17: 34,957,848 (GRCm39) |
G611V |
possibly damaging |
Het |
| Cacna1i |
A |
G |
15: 80,205,427 (GRCm39) |
M128V |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,038,213 (GRCm39) |
S370P |
possibly damaging |
Het |
| Cops6 |
T |
C |
5: 138,159,673 (GRCm39) |
V9A |
possibly damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,059,321 (GRCm39) |
I193K |
probably benign |
Het |
| Daam2 |
T |
C |
17: 49,801,467 (GRCm39) |
D90G |
probably damaging |
Het |
| Fads3 |
A |
G |
19: 10,019,202 (GRCm39) |
D36G |
probably benign |
Het |
| Fam185a |
T |
C |
5: 21,630,554 (GRCm39) |
V130A |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,172,463 (GRCm39) |
N1928K |
probably damaging |
Het |
| Fstl3 |
A |
G |
10: 79,615,843 (GRCm39) |
M110V |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,415,919 (GRCm39) |
T552A |
possibly damaging |
Het |
| Gfra1 |
G |
A |
19: 58,226,830 (GRCm39) |
T462I |
probably damaging |
Het |
| Glrx2 |
T |
A |
1: 143,621,121 (GRCm39) |
|
probably benign |
Het |
| Gm10100 |
G |
T |
10: 77,562,498 (GRCm39) |
C60F |
possibly damaging |
Het |
| Gm43302 |
T |
A |
5: 105,425,605 (GRCm39) |
K275* |
probably null |
Het |
| Gm6569 |
A |
G |
15: 73,711,640 (GRCm39) |
|
probably benign |
Het |
| Hhipl2 |
T |
A |
1: 183,209,459 (GRCm39) |
|
probably null |
Het |
| Kcnj16 |
A |
T |
11: 110,916,378 (GRCm39) |
K347* |
probably null |
Het |
| Kcnt2 |
T |
A |
1: 140,354,661 (GRCm39) |
C305* |
probably null |
Het |
| Large2 |
A |
G |
2: 92,196,825 (GRCm39) |
L477P |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,799,245 (GRCm39) |
T137A |
possibly damaging |
Het |
| Mettl3 |
T |
C |
14: 52,534,215 (GRCm39) |
|
probably null |
Het |
| Mical3 |
C |
T |
6: 120,935,684 (GRCm39) |
S1614N |
probably damaging |
Het |
| Mmut |
T |
A |
17: 41,249,622 (GRCm39) |
V199E |
possibly damaging |
Het |
| Morc3 |
C |
A |
16: 93,642,082 (GRCm39) |
Y100* |
probably null |
Het |
| Mrc2 |
A |
G |
11: 105,237,646 (GRCm39) |
K1108R |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,960,835 (GRCm39) |
V243A |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,605,794 (GRCm39) |
N1505K |
probably benign |
Het |
| Myo1g |
A |
T |
11: 6,469,168 (GRCm39) |
Y45N |
probably damaging |
Het |
| Nckap5l |
C |
A |
15: 99,325,905 (GRCm39) |
L199F |
possibly damaging |
Het |
| Ndufc2 |
A |
G |
7: 97,056,099 (GRCm39) |
T66A |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,050,917 (GRCm39) |
H779Q |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,661 (GRCm39) |
T93A |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,705,698 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,831 (GRCm39) |
N65D |
probably damaging |
Het |
| Or4c3 |
A |
G |
2: 89,851,573 (GRCm39) |
|
probably null |
Het |
| Or51ah3 |
A |
T |
7: 103,210,489 (GRCm39) |
R268S |
probably benign |
Het |
| Or5au1 |
C |
A |
14: 52,272,825 (GRCm39) |
V248L |
possibly damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,545 (GRCm39) |
N153S |
probably benign |
Het |
| Otog |
C |
T |
7: 45,898,458 (GRCm39) |
T192I |
possibly damaging |
Het |
| Oxct1 |
T |
C |
15: 4,064,812 (GRCm39) |
V50A |
probably benign |
Het |
| P3h2 |
T |
A |
16: 25,784,493 (GRCm39) |
D667V |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,047 (GRCm39) |
Y191C |
probably damaging |
Het |
| Pds5b |
T |
G |
5: 150,670,083 (GRCm39) |
V357G |
probably damaging |
Het |
| Pggt1b |
A |
G |
18: 46,407,674 (GRCm39) |
V81A |
possibly damaging |
Het |
| Phxr2 |
A |
G |
10: 98,962,043 (GRCm39) |
|
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,095,469 (GRCm39) |
I406T |
probably benign |
Het |
| Ppat |
T |
C |
5: 77,070,202 (GRCm39) |
I173V |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,243,153 (GRCm39) |
S167G |
probably damaging |
Het |
| Rnf135 |
A |
C |
11: 80,080,053 (GRCm39) |
T115P |
possibly damaging |
Het |
| Rpl22 |
C |
T |
4: 152,414,536 (GRCm39) |
R65C |
probably benign |
Het |
| Scel |
T |
C |
14: 103,829,420 (GRCm39) |
F405L |
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,469,799 (GRCm39) |
Y350H |
probably damaging |
Het |
| Slc25a16 |
C |
A |
10: 62,764,102 (GRCm39) |
T53K |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,870,215 (GRCm39) |
F308I |
possibly damaging |
Het |
| Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
| Smok3c |
T |
C |
5: 138,063,314 (GRCm39) |
V267A |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,873,158 (GRCm39) |
D473G |
probably benign |
Het |
| Svs6 |
A |
G |
2: 164,159,405 (GRCm39) |
E56G |
possibly damaging |
Het |
| Tas2r130 |
TCATTTC |
T |
6: 131,607,547 (GRCm39) |
|
probably benign |
Het |
| Thoc3 |
T |
C |
13: 54,615,785 (GRCm39) |
N93S |
probably benign |
Het |
| Tle6 |
A |
G |
10: 81,428,600 (GRCm39) |
C443R |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,788,371 (GRCm39) |
F192S |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,718,548 (GRCm39) |
N184D |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,397,638 (GRCm39) |
N207Y |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,220,352 (GRCm39) |
F792L |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zfp972 |
A |
T |
2: 177,549,117 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
G |
A |
11: 72,760,631 (GRCm39) |
C1318Y |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTAGTCAGGTTTTCATTTCCCTG -3'
(R):5'- TCCAAAACAGCAGAATAGTTGGGTG -3'
Sequencing Primer
(F):5'- GGAGAAGGCATGTCATTG -3'
(R):5'- GGGTGTGATTTGTCATATCCATC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation