Incidental Mutation 'R0686:Eeig2'
| ID |
61156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eeig2
|
| Ensembl Gene |
ENSMUSG00000040339 |
| Gene Name |
EEIG family member 2 |
| Synonyms |
B430201A12Rik, Fam102b, 1600010D10Rik |
| MMRRC Submission |
038871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R0686 (G1)
|
| Quality Score |
87 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108878313-108934923 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108900001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 116
(R116C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046924]
[ENSMUST00000171143]
|
| AlphaFold |
Q8BQS4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046924
AA Change: R85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039751
Gene: ENSMUSG00000040339
AA Change: R85C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NT-C2
|
1 |
118 |
7.7e-24 |
PFAM |
|
low complexity region
|
230 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171143
AA Change: R116C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131904
Gene: ENSMUSG00000040339
AA Change: R116C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NT-C2
|
3 |
149 |
1.3e-31 |
PFAM |
|
low complexity region
|
261 |
288 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4597 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
C |
T |
5: 138,562,799 (GRCm39) |
E42K |
possibly damaging |
Het |
| Arhgef12 |
A |
C |
9: 42,904,324 (GRCm39) |
L718R |
probably benign |
Het |
| Bsx |
T |
G |
9: 40,787,733 (GRCm39) |
S136A |
probably damaging |
Het |
| Ccne2 |
T |
A |
4: 11,197,220 (GRCm39) |
M174K |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,749,077 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ckb |
A |
G |
12: 111,636,627 (GRCm39) |
V249A |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2r1 |
T |
G |
7: 114,151,246 (GRCm39) |
M358L |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,480,449 (GRCm39) |
D563E |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,037,516 (GRCm39) |
L356I |
probably damaging |
Het |
| Fpr-rs4 |
A |
C |
17: 18,242,613 (GRCm39) |
I207L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,571,935 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
A |
T |
9: 54,811,460 (GRCm39) |
I755L |
probably benign |
Het |
| Kctd9 |
A |
G |
14: 67,966,185 (GRCm39) |
T101A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,570,811 (GRCm39) |
S1R |
possibly damaging |
Het |
| Ltbr |
T |
C |
6: 125,285,024 (GRCm39) |
D292G |
possibly damaging |
Het |
| Med1 |
G |
A |
11: 98,049,230 (GRCm39) |
T507I |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,585 (GRCm39) |
M101K |
probably damaging |
Het |
| Or8g37 |
A |
C |
9: 39,730,964 (GRCm39) |
T10P |
probably damaging |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Pih1d1 |
T |
A |
7: 44,805,753 (GRCm39) |
L74* |
probably null |
Het |
| Prim2 |
T |
C |
1: 33,553,270 (GRCm39) |
T264A |
probably benign |
Het |
| Prss59 |
G |
A |
6: 40,905,452 (GRCm39) |
S68F |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Simc1 |
T |
A |
13: 54,673,003 (GRCm39) |
S450R |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,844,483 (GRCm39) |
N796I |
probably damaging |
Het |
| Vmn1r214 |
T |
A |
13: 23,218,962 (GRCm39) |
I152N |
probably damaging |
Het |
|
| Other mutations in Eeig2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01326:Eeig2
|
APN |
3 |
108,887,101 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02415:Eeig2
|
APN |
3 |
108,887,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Eeig2
|
UTSW |
3 |
108,887,497 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0502:Eeig2
|
UTSW |
3 |
108,900,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Eeig2
|
UTSW |
3 |
108,887,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2568:Eeig2
|
UTSW |
3 |
108,886,164 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3721:Eeig2
|
UTSW |
3 |
108,887,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Eeig2
|
UTSW |
3 |
108,887,124 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4613:Eeig2
|
UTSW |
3 |
108,934,571 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4946:Eeig2
|
UTSW |
3 |
108,887,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5182:Eeig2
|
UTSW |
3 |
108,892,667 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5831:Eeig2
|
UTSW |
3 |
108,900,019 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5930:Eeig2
|
UTSW |
3 |
108,887,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7432:Eeig2
|
UTSW |
3 |
108,910,723 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7601:Eeig2
|
UTSW |
3 |
108,895,628 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8309:Eeig2
|
UTSW |
3 |
108,934,658 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCTCAGGATGGATTCCCTTCG -3'
(R):5'- TGTCTTTAGCCCAGCACATCAAACC -3'
Sequencing Primer
(F):5'- CAGGATGGATTCCCTTCGTATCG -3'
(R):5'- CCCGCGTGAAGTAAATGCTAAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation