Incidental Mutation 'R8358:Erich6'
| ID |
645851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erich6
|
| Ensembl Gene |
ENSMUSG00000070471 |
| Gene Name |
glutamate rich 6 |
| Synonyms |
4932431H17Rik, Fam194a |
| MMRRC Submission |
067871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8358 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
58523721-58544628 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 58544449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 46
(L46*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041115]
|
| AlphaFold |
D3Z6S9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041115
AA Change: L46*
|
| SMART Domains |
Protein: ENSMUSP00000040882
Gene: ENSMUSG00000070471
AA Change: L46*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
27 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
400 |
N/A |
INTRINSIC |
|
Pfam:FAM194
|
473 |
675 |
5.4e-67 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,367,796 (GRCm39) |
S52P |
possibly damaging |
Het |
| Adamts19 |
G |
T |
18: 59,181,881 (GRCm39) |
G1107C |
probably damaging |
Het |
| Afap1 |
A |
T |
5: 36,131,830 (GRCm39) |
T386S |
probably benign |
Het |
| Alg12 |
T |
C |
15: 88,695,503 (GRCm39) |
Y331C |
probably null |
Het |
| Aste1 |
T |
A |
9: 105,274,255 (GRCm39) |
I165N |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,167,805 (GRCm39) |
I118T |
probably damaging |
Het |
| AW551984 |
A |
G |
9: 39,510,651 (GRCm39) |
V228A |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,816,668 (GRCm39) |
Y357C |
possibly damaging |
Het |
| Cacul1 |
T |
A |
19: 60,551,673 (GRCm39) |
H183L |
possibly damaging |
Het |
| Casp16 |
T |
A |
17: 23,772,348 (GRCm39) |
I39F |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,839,529 (GRCm39) |
C1355F |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,713,610 (GRCm39) |
|
probably null |
Het |
| Ctif |
G |
A |
18: 75,698,115 (GRCm39) |
H182Y |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,329,971 (GRCm39) |
V2637I |
probably benign |
Het |
| Dlx1 |
T |
A |
2: 71,360,652 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,376,457 (GRCm39) |
N1414S |
possibly damaging |
Het |
| Fcho2 |
G |
A |
13: 98,862,282 (GRCm39) |
R804* |
probably null |
Het |
| Gas7 |
T |
A |
11: 67,543,734 (GRCm39) |
I114N |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,929 (GRCm39) |
T376A |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,229 (GRCm39) |
M85V |
probably benign |
Het |
| Klk1b16 |
T |
A |
7: 43,790,185 (GRCm39) |
C152S |
probably damaging |
Het |
| Lrrc31 |
G |
A |
3: 30,753,932 (GRCm39) |
|
probably benign |
Het |
| Magt1 |
C |
T |
X: 105,040,501 (GRCm39) |
A100T |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,301,855 (GRCm39) |
K1060E |
possibly damaging |
Het |
| Nif3l1 |
A |
T |
1: 58,491,288 (GRCm39) |
T213S |
probably benign |
Het |
| Oasl1 |
T |
A |
5: 115,075,465 (GRCm39) |
F508L |
probably benign |
Het |
| Or10ak8 |
A |
T |
4: 118,773,723 (GRCm39) |
*314R |
probably null |
Het |
| Or2a25 |
T |
C |
6: 42,888,976 (GRCm39) |
V173A |
possibly damaging |
Het |
| Or4a80 |
C |
T |
2: 89,582,423 (GRCm39) |
V250I |
probably benign |
Het |
| Or5b122 |
T |
C |
19: 13,562,764 (GRCm39) |
L32P |
probably damaging |
Het |
| Psg23 |
T |
C |
7: 18,348,522 (GRCm39) |
D95G |
probably benign |
Het |
| Ptprr |
T |
C |
10: 115,884,180 (GRCm39) |
I79T |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
| Rhbg |
T |
A |
3: 88,152,525 (GRCm39) |
N340Y |
probably damaging |
Het |
| Sash1 |
C |
A |
10: 8,605,745 (GRCm39) |
V882L |
probably benign |
Het |
| Sharpin |
C |
T |
15: 76,232,197 (GRCm39) |
V220I |
probably damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,108,243 (GRCm39) |
D524V |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,780,860 (GRCm39) |
Y362H |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,530,359 (GRCm39) |
D687E |
probably damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,208,411 (GRCm39) |
S127P |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,910,739 (GRCm39) |
I1213V |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,074,080 (GRCm39) |
Y813* |
probably null |
Het |
| Tbc1d10a |
T |
C |
11: 4,155,837 (GRCm39) |
M131T |
probably damaging |
Het |
| Tnfrsf19 |
C |
A |
14: 61,208,634 (GRCm39) |
V296F |
probably benign |
Het |
| Trim45 |
T |
C |
3: 100,834,634 (GRCm39) |
V439A |
probably damaging |
Het |
| Trim54 |
A |
G |
5: 31,294,338 (GRCm39) |
T325A |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,908,770 (GRCm39) |
E577G |
possibly damaging |
Het |
| Uts2r |
T |
A |
11: 121,051,345 (GRCm39) |
Y70N |
probably damaging |
Het |
| Vmn1r72 |
T |
G |
7: 11,404,310 (GRCm39) |
D46A |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,240,198 (GRCm39) |
V577A |
probably benign |
Het |
| Zfp987 |
T |
G |
4: 146,061,343 (GRCm39) |
H258Q |
probably damaging |
Het |
|
| Other mutations in Erich6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Erich6
|
APN |
3 |
58,544,464 (GRCm39) |
missense |
unknown |
|
|
IGL01352:Erich6
|
APN |
3 |
58,529,781 (GRCm39) |
splice site |
probably null |
|
|
IGL01362:Erich6
|
APN |
3 |
58,529,781 (GRCm39) |
splice site |
probably null |
|
|
IGL01928:Erich6
|
APN |
3 |
58,528,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Erich6
|
APN |
3 |
58,529,775 (GRCm39) |
splice site |
probably benign |
|
|
IGL03125:Erich6
|
APN |
3 |
58,531,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4243001:Erich6
|
UTSW |
3 |
58,537,300 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0081:Erich6
|
UTSW |
3 |
58,543,547 (GRCm39) |
splice site |
probably benign |
|
|
R0129:Erich6
|
UTSW |
3 |
58,531,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Erich6
|
UTSW |
3 |
58,543,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0682:Erich6
|
UTSW |
3 |
58,544,232 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0734:Erich6
|
UTSW |
3 |
58,536,809 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Erich6
|
UTSW |
3 |
58,543,543 (GRCm39) |
splice site |
probably benign |
|
|
R0833:Erich6
|
UTSW |
3 |
58,526,365 (GRCm39) |
splice site |
probably benign |
|
|
R0836:Erich6
|
UTSW |
3 |
58,526,365 (GRCm39) |
splice site |
probably benign |
|
|
R1385:Erich6
|
UTSW |
3 |
58,544,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1536:Erich6
|
UTSW |
3 |
58,534,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1570:Erich6
|
UTSW |
3 |
58,538,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1708:Erich6
|
UTSW |
3 |
58,523,868 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2187:Erich6
|
UTSW |
3 |
58,537,266 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2268:Erich6
|
UTSW |
3 |
58,526,260 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2441:Erich6
|
UTSW |
3 |
58,526,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Erich6
|
UTSW |
3 |
58,528,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Erich6
|
UTSW |
3 |
58,544,125 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4166:Erich6
|
UTSW |
3 |
58,526,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Erich6
|
UTSW |
3 |
58,531,712 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4729:Erich6
|
UTSW |
3 |
58,543,480 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4838:Erich6
|
UTSW |
3 |
58,544,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5117:Erich6
|
UTSW |
3 |
58,530,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5305:Erich6
|
UTSW |
3 |
58,532,537 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5546:Erich6
|
UTSW |
3 |
58,526,218 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5605:Erich6
|
UTSW |
3 |
58,532,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Erich6
|
UTSW |
3 |
58,530,622 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6033:Erich6
|
UTSW |
3 |
58,530,622 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6378:Erich6
|
UTSW |
3 |
58,529,780 (GRCm39) |
splice site |
probably null |
|
|
R6606:Erich6
|
UTSW |
3 |
58,523,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Erich6
|
UTSW |
3 |
58,532,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Erich6
|
UTSW |
3 |
58,523,987 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6974:Erich6
|
UTSW |
3 |
58,526,220 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6996:Erich6
|
UTSW |
3 |
58,543,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Erich6
|
UTSW |
3 |
58,544,305 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7484:Erich6
|
UTSW |
3 |
58,534,112 (GRCm39) |
splice site |
probably null |
|
|
R7526:Erich6
|
UTSW |
3 |
58,538,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Erich6
|
UTSW |
3 |
58,526,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Erich6
|
UTSW |
3 |
58,528,699 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8944:Erich6
|
UTSW |
3 |
58,537,275 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8965:Erich6
|
UTSW |
3 |
58,531,738 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9342:Erich6
|
UTSW |
3 |
58,534,101 (GRCm39) |
nonsense |
probably null |
|
|
R9429:Erich6
|
UTSW |
3 |
58,536,935 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9622:Erich6
|
UTSW |
3 |
58,544,162 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9624:Erich6
|
UTSW |
3 |
58,536,766 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9633:Erich6
|
UTSW |
3 |
58,537,277 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCAGGGAACAGGTTCTG -3'
(R):5'- TCCTGAGGCTTTAAACCCTG -3'
Sequencing Primer
(F):5'- CAGGGAACAGGTTCTGGCTTTC -3'
(R):5'- TCCTGAGGCTTTAAACCCTGAAAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation