Incidental Mutation 'R1108:2700062C07Rik'
| ID |
98578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2700062C07Rik
|
| Ensembl Gene |
ENSMUSG00000024273 |
| Gene Name |
RIKEN cDNA 2700062C07 gene |
| Synonyms |
|
| MMRRC Submission |
039181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R1108 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
24603928-24610824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24610333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 170
(T170A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097646]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097646
AA Change: T170A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000095251
Gene: ENSMUSG00000024273
AA Change: T170A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4674
|
27 |
217 |
3.9e-80 |
PFAM |
|
| Meta Mutation Damage Score |
0.0617 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Calb2 |
T |
A |
8: 110,869,760 (GRCm39) |
R258* |
probably null |
Het |
| Cep128 |
T |
A |
12: 91,305,883 (GRCm39) |
E173D |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,185 (GRCm39) |
C192R |
probably damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Esrrb |
G |
A |
12: 86,552,604 (GRCm39) |
R182Q |
probably damaging |
Het |
| Fgf22 |
T |
C |
10: 79,592,417 (GRCm39) |
I58T |
probably damaging |
Het |
| Flcn |
A |
G |
11: 59,692,026 (GRCm39) |
F208L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,790,488 (GRCm39) |
C954Y |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,760,359 (GRCm39) |
L530I |
probably damaging |
Het |
| Man1c1 |
T |
C |
4: 134,291,924 (GRCm39) |
E548G |
probably damaging |
Het |
| Myh4 |
T |
G |
11: 67,146,532 (GRCm39) |
L1502V |
probably null |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or7e174 |
A |
C |
9: 20,012,121 (GRCm39) |
D22A |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,259,667 (GRCm39) |
M510T |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,768,066 (GRCm39) |
W177R |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,375 (GRCm39) |
R800G |
probably benign |
Het |
| Zfp971 |
C |
T |
2: 177,675,463 (GRCm39) |
P354L |
probably damaging |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
probably damaging |
Het |
|
| Other mutations in 2700062C07Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01919:2700062C07Rik
|
APN |
18 |
24,608,580 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02217:2700062C07Rik
|
APN |
18 |
24,603,955 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1422:2700062C07Rik
|
UTSW |
18 |
24,610,333 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2212:2700062C07Rik
|
UTSW |
18 |
24,603,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4030:2700062C07Rik
|
UTSW |
18 |
24,608,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4246:2700062C07Rik
|
UTSW |
18 |
24,606,013 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4248:2700062C07Rik
|
UTSW |
18 |
24,606,013 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4249:2700062C07Rik
|
UTSW |
18 |
24,606,013 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4734:2700062C07Rik
|
UTSW |
18 |
24,603,961 (GRCm39) |
start codon destroyed |
probably null |
0.86 |
|
R7269:2700062C07Rik
|
UTSW |
18 |
24,606,013 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7903:2700062C07Rik
|
UTSW |
18 |
24,608,783 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8125:2700062C07Rik
|
UTSW |
18 |
24,608,709 (GRCm39) |
missense |
probably benign |
|
|
R9577:2700062C07Rik
|
UTSW |
18 |
24,608,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAGCACAGCCAGTGTCCATACG -3'
(R):5'- TGGTTTAATGAGGCACTTCCCACAG -3'
Sequencing Primer
(F):5'- TCCATACGGAGCTGTAGTGC -3'
(R):5'- CGAGAACAGCTTGCTTTTGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation