Incidental Mutation 'R6800:Erich3'
ID |
533257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Erich3
|
Ensembl Gene |
ENSMUSG00000078161 |
Gene Name |
glutamate rich 3 |
Synonyms |
5031409G23Rik, 4922501L14Rik |
MMRRC Submission |
044913-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6800 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
154416770-154454649 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 154433029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051862]
[ENSMUST00000051862]
[ENSMUST00000051862]
[ENSMUST00000051862]
[ENSMUST00000098496]
[ENSMUST00000098496]
[ENSMUST00000098496]
[ENSMUST00000098496]
|
AlphaFold |
F6QRE9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000051862
|
SMART Domains |
Protein: ENSMUSP00000062837 Gene: ENSMUSG00000078161
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
Pfam:DUF4590
|
102 |
217 |
9.8e-62 |
PFAM |
low complexity region
|
299 |
327 |
N/A |
INTRINSIC |
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
low complexity region
|
408 |
420 |
N/A |
INTRINSIC |
low complexity region
|
441 |
451 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000051862
|
SMART Domains |
Protein: ENSMUSP00000062837 Gene: ENSMUSG00000078161
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
Pfam:DUF4590
|
102 |
217 |
9.8e-62 |
PFAM |
low complexity region
|
299 |
327 |
N/A |
INTRINSIC |
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
low complexity region
|
408 |
420 |
N/A |
INTRINSIC |
low complexity region
|
441 |
451 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000051862
|
SMART Domains |
Protein: ENSMUSP00000062837 Gene: ENSMUSG00000078161
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
Pfam:DUF4590
|
102 |
217 |
9.8e-62 |
PFAM |
low complexity region
|
299 |
327 |
N/A |
INTRINSIC |
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
low complexity region
|
408 |
420 |
N/A |
INTRINSIC |
low complexity region
|
441 |
451 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000051862
|
SMART Domains |
Protein: ENSMUSP00000062837 Gene: ENSMUSG00000078161
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
Pfam:DUF4590
|
102 |
217 |
9.8e-62 |
PFAM |
low complexity region
|
299 |
327 |
N/A |
INTRINSIC |
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
low complexity region
|
408 |
420 |
N/A |
INTRINSIC |
low complexity region
|
441 |
451 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098496
|
SMART Domains |
Protein: ENSMUSP00000096097 Gene: ENSMUSG00000078161
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
18 |
102 |
3.73e-10 |
PROSPERO |
internal_repeat_1
|
155 |
240 |
3.73e-10 |
PROSPERO |
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
low complexity region
|
756 |
773 |
N/A |
INTRINSIC |
low complexity region
|
792 |
809 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098496
|
SMART Domains |
Protein: ENSMUSP00000096097 Gene: ENSMUSG00000078161
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
18 |
102 |
3.73e-10 |
PROSPERO |
internal_repeat_1
|
155 |
240 |
3.73e-10 |
PROSPERO |
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
low complexity region
|
756 |
773 |
N/A |
INTRINSIC |
low complexity region
|
792 |
809 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098496
|
SMART Domains |
Protein: ENSMUSP00000096097 Gene: ENSMUSG00000078161
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
18 |
102 |
3.73e-10 |
PROSPERO |
internal_repeat_1
|
155 |
240 |
3.73e-10 |
PROSPERO |
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
low complexity region
|
756 |
773 |
N/A |
INTRINSIC |
low complexity region
|
792 |
809 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098496
|
SMART Domains |
Protein: ENSMUSP00000096097 Gene: ENSMUSG00000078161
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
18 |
102 |
3.73e-10 |
PROSPERO |
internal_repeat_1
|
155 |
240 |
3.73e-10 |
PROSPERO |
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
low complexity region
|
756 |
773 |
N/A |
INTRINSIC |
low complexity region
|
792 |
809 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9495 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
G |
A |
13: 60,992,948 (GRCm39) |
P244S |
probably damaging |
Het |
9130023H24Rik |
C |
A |
7: 127,836,742 (GRCm39) |
|
probably benign |
Het |
Acoxl |
A |
T |
2: 127,852,085 (GRCm39) |
Q129L |
probably damaging |
Het |
Akna |
T |
C |
4: 63,316,268 (GRCm39) |
T32A |
probably benign |
Het |
Alox15 |
C |
T |
11: 70,235,645 (GRCm39) |
|
probably null |
Het |
Antxrl |
T |
C |
14: 33,787,864 (GRCm39) |
S296P |
probably damaging |
Het |
Arrb2 |
G |
T |
11: 70,328,142 (GRCm39) |
G52* |
probably null |
Het |
Bltp2 |
T |
C |
11: 78,179,105 (GRCm39) |
F2091S |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,309,045 (GRCm39) |
I499N |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,629,719 (GRCm39) |
D683V |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,504,686 (GRCm39) |
D396E |
probably benign |
Het |
Cubn |
T |
A |
2: 13,326,066 (GRCm39) |
I2700F |
probably damaging |
Het |
Cypt4 |
A |
T |
9: 24,536,965 (GRCm39) |
N152Y |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,316,467 (GRCm39) |
N1640D |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,379,377 (GRCm39) |
N3704Y |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,963,565 (GRCm39) |
|
probably null |
Het |
Elac2 |
G |
A |
11: 64,890,265 (GRCm39) |
|
probably null |
Het |
Espnl |
T |
C |
1: 91,270,351 (GRCm39) |
V386A |
probably damaging |
Het |
Fbxl6 |
T |
A |
15: 76,422,898 (GRCm39) |
|
probably benign |
Het |
Fdps |
A |
C |
3: 89,008,068 (GRCm39) |
F17V |
probably damaging |
Het |
Gigyf2 |
T |
C |
1: 87,346,898 (GRCm39) |
I576T |
possibly damaging |
Het |
Gm20939 |
A |
G |
17: 95,184,657 (GRCm39) |
E435G |
possibly damaging |
Het |
Hivep1 |
G |
A |
13: 42,310,852 (GRCm39) |
V1031I |
probably damaging |
Het |
Hydin |
T |
G |
8: 111,324,603 (GRCm39) |
S4655A |
probably benign |
Het |
Ifrd1 |
T |
A |
12: 40,273,157 (GRCm39) |
|
probably benign |
Het |
Iqgap1 |
G |
T |
7: 80,378,729 (GRCm39) |
T1219K |
possibly damaging |
Het |
Lmtk3 |
G |
A |
7: 45,443,233 (GRCm39) |
E639K |
possibly damaging |
Het |
Map3k5 |
A |
G |
10: 20,017,326 (GRCm39) |
*1373W |
probably null |
Het |
Mia2 |
G |
A |
12: 59,235,332 (GRCm39) |
|
probably null |
Het |
Micu2 |
T |
C |
14: 58,156,896 (GRCm39) |
D313G |
possibly damaging |
Het |
Mrgpra4 |
A |
G |
7: 47,631,371 (GRCm39) |
S77P |
probably damaging |
Het |
Mrpl51 |
T |
C |
6: 125,169,367 (GRCm39) |
V17A |
probably benign |
Het |
Neurod4 |
A |
T |
10: 130,106,661 (GRCm39) |
Y204* |
probably null |
Het |
Or2n1 |
A |
G |
17: 38,486,013 (GRCm39) |
I13V |
probably benign |
Het |
Or56a42-ps1 |
A |
T |
7: 104,776,217 (GRCm39) |
V97E |
probably benign |
Het |
Or5p67 |
G |
A |
7: 107,922,460 (GRCm39) |
T141I |
probably benign |
Het |
Or6c66b |
A |
T |
10: 129,377,132 (GRCm39) |
H242L |
probably damaging |
Het |
Pate2 |
T |
C |
9: 35,596,941 (GRCm39) |
|
probably benign |
Het |
Pcdhgb8 |
G |
A |
18: 37,896,580 (GRCm39) |
R550Q |
probably benign |
Het |
Phldb3 |
T |
C |
7: 24,323,577 (GRCm39) |
L437P |
possibly damaging |
Het |
Pianp |
C |
A |
6: 124,978,565 (GRCm39) |
P257T |
possibly damaging |
Het |
Rbbp6 |
T |
A |
7: 122,584,287 (GRCm39) |
H140Q |
possibly damaging |
Het |
Rfx2 |
A |
G |
17: 57,087,804 (GRCm39) |
I529T |
probably damaging |
Het |
Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,268,599 (GRCm39) |
I1395T |
possibly damaging |
Het |
Rps6ka2 |
A |
C |
17: 7,519,035 (GRCm39) |
K186Q |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Rtel1 |
C |
A |
2: 180,964,256 (GRCm39) |
T85N |
probably benign |
Het |
Rtn4rl2 |
T |
C |
2: 84,710,967 (GRCm39) |
N99S |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,723,741 (GRCm39) |
G4106D |
possibly damaging |
Het |
Scgb2b24 |
A |
G |
7: 33,437,894 (GRCm39) |
V71A |
probably benign |
Het |
Sgip1 |
A |
G |
4: 102,778,225 (GRCm39) |
|
probably benign |
Het |
Slc12a4 |
G |
A |
8: 106,676,371 (GRCm39) |
T515I |
probably damaging |
Het |
Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
Strbp |
C |
T |
2: 37,515,228 (GRCm39) |
R266Q |
probably damaging |
Het |
Strn |
G |
T |
17: 78,977,787 (GRCm39) |
|
probably benign |
Het |
Thnsl2 |
C |
A |
6: 71,118,264 (GRCm39) |
V55L |
probably benign |
Het |
Tmem178b |
A |
T |
6: 40,231,858 (GRCm39) |
Q164L |
unknown |
Het |
Tmprss6 |
C |
T |
15: 78,324,457 (GRCm39) |
R786H |
probably damaging |
Het |
Ttc21a |
T |
A |
9: 119,770,268 (GRCm39) |
L113Q |
possibly damaging |
Het |
Ttc21b |
T |
C |
2: 66,038,994 (GRCm39) |
|
probably null |
Het |
Vmn2r51 |
T |
C |
7: 9,832,191 (GRCm39) |
D465G |
probably damaging |
Het |
Vmp1 |
A |
C |
11: 86,556,913 (GRCm39) |
|
probably null |
Het |
Wdcp |
T |
C |
12: 4,901,358 (GRCm39) |
F405L |
probably damaging |
Het |
Zfhx3 |
A |
T |
8: 109,676,149 (GRCm39) |
T2400S |
probably benign |
Het |
Zfp27 |
T |
C |
7: 29,593,860 (GRCm39) |
T702A |
probably benign |
Het |
Zfp87 |
T |
C |
13: 74,520,080 (GRCm39) |
S333G |
probably benign |
Het |
|
Other mutations in Erich3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00955:Erich3
|
APN |
3 |
154,454,156 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01141:Erich3
|
APN |
3 |
154,419,653 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01812:Erich3
|
APN |
3 |
154,419,608 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02126:Erich3
|
APN |
3 |
154,419,599 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL03371:Erich3
|
APN |
3 |
154,433,114 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03386:Erich3
|
APN |
3 |
154,444,876 (GRCm39) |
missense |
possibly damaging |
0.80 |
FR4449:Erich3
|
UTSW |
3 |
154,469,150 (GRCm39) |
unclassified |
probably benign |
|
R0942:Erich3
|
UTSW |
3 |
154,444,788 (GRCm39) |
missense |
probably benign |
0.00 |
R1558:Erich3
|
UTSW |
3 |
154,419,705 (GRCm39) |
missense |
probably damaging |
0.99 |
R1582:Erich3
|
UTSW |
3 |
154,469,960 (GRCm39) |
unclassified |
probably benign |
|
R1674:Erich3
|
UTSW |
3 |
154,468,260 (GRCm39) |
unclassified |
probably benign |
|
R1676:Erich3
|
UTSW |
3 |
154,468,260 (GRCm39) |
unclassified |
probably benign |
|
R1724:Erich3
|
UTSW |
3 |
154,467,964 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1757:Erich3
|
UTSW |
3 |
154,401,402 (GRCm39) |
missense |
probably damaging |
0.98 |
R1771:Erich3
|
UTSW |
3 |
154,454,109 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2384:Erich3
|
UTSW |
3 |
154,470,288 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2410:Erich3
|
UTSW |
3 |
154,439,240 (GRCm39) |
missense |
probably damaging |
0.98 |
R2507:Erich3
|
UTSW |
3 |
154,404,296 (GRCm39) |
missense |
probably null |
1.00 |
R3621:Erich3
|
UTSW |
3 |
154,454,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3755:Erich3
|
UTSW |
3 |
154,469,958 (GRCm39) |
unclassified |
probably benign |
|
R3756:Erich3
|
UTSW |
3 |
154,470,215 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3756:Erich3
|
UTSW |
3 |
154,469,958 (GRCm39) |
unclassified |
probably benign |
|
R3832:Erich3
|
UTSW |
3 |
154,467,998 (GRCm39) |
missense |
probably damaging |
0.97 |
R4020:Erich3
|
UTSW |
3 |
154,419,686 (GRCm39) |
missense |
probably damaging |
0.97 |
R4601:Erich3
|
UTSW |
3 |
154,470,375 (GRCm39) |
missense |
unknown |
|
R4628:Erich3
|
UTSW |
3 |
154,469,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Erich3
|
UTSW |
3 |
154,410,480 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4842:Erich3
|
UTSW |
3 |
154,410,480 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4863:Erich3
|
UTSW |
3 |
154,470,441 (GRCm39) |
missense |
unknown |
|
R4989:Erich3
|
UTSW |
3 |
154,454,025 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5310:Erich3
|
UTSW |
3 |
154,469,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R5596:Erich3
|
UTSW |
3 |
154,433,033 (GRCm39) |
missense |
probably damaging |
0.99 |
R5695:Erich3
|
UTSW |
3 |
154,439,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R5742:Erich3
|
UTSW |
3 |
154,438,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R5859:Erich3
|
UTSW |
3 |
154,468,134 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5916:Erich3
|
UTSW |
3 |
154,401,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R6172:Erich3
|
UTSW |
3 |
154,469,978 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6321:Erich3
|
UTSW |
3 |
154,433,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R6438:Erich3
|
UTSW |
3 |
154,401,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R6520:Erich3
|
UTSW |
3 |
154,469,102 (GRCm39) |
missense |
probably damaging |
0.98 |
R6679:Erich3
|
UTSW |
3 |
154,468,066 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6697:Erich3
|
UTSW |
3 |
154,469,907 (GRCm39) |
unclassified |
probably benign |
|
R6823:Erich3
|
UTSW |
3 |
154,433,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R6855:Erich3
|
UTSW |
3 |
154,468,286 (GRCm39) |
nonsense |
probably null |
|
R6989:Erich3
|
UTSW |
3 |
154,469,314 (GRCm39) |
unclassified |
probably benign |
|
R7400:Erich3
|
UTSW |
3 |
154,468,214 (GRCm39) |
missense |
|
|
R7421:Erich3
|
UTSW |
3 |
154,439,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R7520:Erich3
|
UTSW |
3 |
154,468,763 (GRCm39) |
missense |
unknown |
|
R7553:Erich3
|
UTSW |
3 |
154,439,137 (GRCm39) |
missense |
probably benign |
0.01 |
R7751:Erich3
|
UTSW |
3 |
154,469,426 (GRCm39) |
missense |
unknown |
|
R7768:Erich3
|
UTSW |
3 |
154,453,968 (GRCm39) |
missense |
probably benign |
0.00 |
R7955:Erich3
|
UTSW |
3 |
154,444,951 (GRCm39) |
nonsense |
probably null |
|
R8001:Erich3
|
UTSW |
3 |
154,419,553 (GRCm39) |
missense |
probably benign |
0.21 |
R8101:Erich3
|
UTSW |
3 |
154,439,150 (GRCm39) |
missense |
probably damaging |
0.99 |
R8108:Erich3
|
UTSW |
3 |
154,425,752 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8162:Erich3
|
UTSW |
3 |
154,470,210 (GRCm39) |
missense |
unknown |
|
R8310:Erich3
|
UTSW |
3 |
154,410,586 (GRCm39) |
missense |
|
|
R8360:Erich3
|
UTSW |
3 |
154,469,991 (GRCm39) |
missense |
unknown |
|
R8418:Erich3
|
UTSW |
3 |
154,415,378 (GRCm39) |
missense |
|
|
R8490:Erich3
|
UTSW |
3 |
154,401,461 (GRCm39) |
missense |
|
|
R8545:Erich3
|
UTSW |
3 |
154,467,996 (GRCm39) |
unclassified |
probably benign |
|
R8813:Erich3
|
UTSW |
3 |
154,468,827 (GRCm39) |
missense |
unknown |
|
R8944:Erich3
|
UTSW |
3 |
154,462,692 (GRCm39) |
missense |
|
|
R8987:Erich3
|
UTSW |
3 |
154,415,340 (GRCm39) |
missense |
|
|
R9036:Erich3
|
UTSW |
3 |
154,468,886 (GRCm39) |
missense |
unknown |
|
R9135:Erich3
|
UTSW |
3 |
154,467,912 (GRCm39) |
missense |
|
|
R9175:Erich3
|
UTSW |
3 |
154,419,601 (GRCm39) |
missense |
probably benign |
0.02 |
R9284:Erich3
|
UTSW |
3 |
154,404,308 (GRCm39) |
missense |
|
|
R9339:Erich3
|
UTSW |
3 |
154,468,872 (GRCm39) |
missense |
unknown |
|
R9626:Erich3
|
UTSW |
3 |
154,444,730 (GRCm39) |
missense |
probably benign |
0.10 |
Z1176:Erich3
|
UTSW |
3 |
154,468,067 (GRCm39) |
missense |
|
|
Z1176:Erich3
|
UTSW |
3 |
154,404,338 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCAACCAAGCATAGCTGTG -3'
(R):5'- GAGATGCCTTCTCCACACAC -3'
Sequencing Primer
(F):5'- CTGTGAAATGATGGTCCAGCAC -3'
(R):5'- CACGAACCCGAAGTAGCCTCTC -3'
|
Posted On |
2018-09-12 |