Incidental Mutation 'R2444:2610008E11Rik'
| ID |
249922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2610008E11Rik
|
| Ensembl Gene |
ENSMUSG00000060301 |
| Gene Name |
RIKEN cDNA 2610008E11 gene |
| Synonyms |
|
| MMRRC Submission |
040402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2444 (G1)
|
| Quality Score |
128 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78900208-78933434 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78904561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 112
(D112E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039271]
[ENSMUST00000218854]
[ENSMUST00000220220]
|
| AlphaFold |
G3X964 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039271
AA Change: D112E
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: D112E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
10 |
70 |
6.95e-32 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
1.61e2 |
SMART |
|
ZnF_C2H2
|
243 |
266 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
272 |
295 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
301 |
324 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
414 |
437 |
4.61e-5 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
555 |
577 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
583 |
605 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
611 |
633 |
3.95e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218854
AA Change: D112E
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220220
AA Change: D112E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,965,120 (GRCm39) |
Y794C |
probably damaging |
Het |
| Bicd2 |
T |
C |
13: 49,532,500 (GRCm39) |
V362A |
probably benign |
Het |
| Cep126 |
G |
A |
9: 8,101,307 (GRCm39) |
T409M |
probably damaging |
Het |
| Cep131 |
A |
G |
11: 119,961,321 (GRCm39) |
F610S |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
| Chd1l |
A |
G |
3: 97,497,882 (GRCm39) |
Y320H |
probably damaging |
Het |
| Dnajc30 |
A |
G |
5: 135,093,439 (GRCm39) |
D112G |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,289 (GRCm39) |
D486G |
possibly damaging |
Het |
| Fam184a |
A |
C |
10: 53,517,045 (GRCm39) |
L410R |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,799 (GRCm39) |
N2638S |
probably damaging |
Het |
| Fgf15 |
A |
G |
7: 144,453,429 (GRCm39) |
D134G |
probably benign |
Het |
| Flywch2 |
A |
T |
17: 23,996,024 (GRCm39) |
S124R |
possibly damaging |
Het |
| Gabra5 |
G |
A |
7: 57,058,623 (GRCm39) |
T375I |
probably benign |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,118,071 (GRCm39) |
N44K |
possibly damaging |
Het |
| Hoatz |
A |
G |
9: 51,011,298 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
A |
T |
1: 15,779,791 (GRCm39) |
N221I |
probably benign |
Het |
| Marco |
G |
A |
1: 120,422,499 (GRCm39) |
T61M |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,222,786 (GRCm39) |
I180T |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,997,142 (GRCm39) |
T626M |
probably damaging |
Het |
| Mtnr1a |
C |
T |
8: 45,540,695 (GRCm39) |
Q219* |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,600,776 (GRCm39) |
S1284P |
probably benign |
Het |
| Or1j10 |
T |
C |
2: 36,267,625 (GRCm39) |
V279A |
possibly damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,311 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcdh9 |
T |
A |
14: 94,124,227 (GRCm39) |
T648S |
probably benign |
Het |
| Proz |
A |
T |
8: 13,111,027 (GRCm39) |
|
probably benign |
Het |
| Rec114 |
G |
T |
9: 58,567,602 (GRCm39) |
A128E |
probably damaging |
Het |
| Rspry1 |
G |
T |
8: 95,349,735 (GRCm39) |
G41V |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,929,905 (GRCm39) |
M1388K |
probably benign |
Het |
| Spice1 |
C |
T |
16: 44,186,931 (GRCm39) |
Q143* |
probably null |
Het |
| Tcstv3 |
A |
T |
13: 120,779,365 (GRCm39) |
K88M |
probably damaging |
Het |
| Terb2 |
T |
A |
2: 122,023,788 (GRCm39) |
|
probably null |
Het |
| Tmx3 |
A |
T |
18: 90,558,307 (GRCm39) |
K453M |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,933,200 (GRCm39) |
Y688C |
probably damaging |
Het |
| Tshz2 |
T |
G |
2: 169,726,726 (GRCm39) |
S441A |
probably benign |
Het |
| Usp45 |
A |
T |
4: 21,817,528 (GRCm39) |
M399L |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,213,702 (GRCm39) |
H96L |
possibly damaging |
Het |
| Wls |
G |
A |
3: 159,612,867 (GRCm39) |
R261Q |
probably damaging |
Het |
|
| Other mutations in 2610008E11Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01551:2610008E11Rik
|
APN |
10 |
78,924,147 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01905:2610008E11Rik
|
APN |
10 |
78,903,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02522:2610008E11Rik
|
APN |
10 |
78,903,633 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02999:2610008E11Rik
|
APN |
10 |
78,903,424 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
K7371:2610008E11Rik
|
UTSW |
10 |
78,903,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0557:2610008E11Rik
|
UTSW |
10 |
78,903,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0761:2610008E11Rik
|
UTSW |
10 |
78,903,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1528:2610008E11Rik
|
UTSW |
10 |
78,903,530 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1801:2610008E11Rik
|
UTSW |
10 |
78,903,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:2610008E11Rik
|
UTSW |
10 |
78,903,743 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4223:2610008E11Rik
|
UTSW |
10 |
78,930,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:2610008E11Rik
|
UTSW |
10 |
78,903,264 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5127:2610008E11Rik
|
UTSW |
10 |
78,902,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:2610008E11Rik
|
UTSW |
10 |
78,903,441 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6175:2610008E11Rik
|
UTSW |
10 |
78,902,448 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6990:2610008E11Rik
|
UTSW |
10 |
78,902,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7055:2610008E11Rik
|
UTSW |
10 |
78,903,681 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7133:2610008E11Rik
|
UTSW |
10 |
78,902,474 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7133:2610008E11Rik
|
UTSW |
10 |
78,902,473 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7142:2610008E11Rik
|
UTSW |
10 |
78,903,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:2610008E11Rik
|
UTSW |
10 |
78,903,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:2610008E11Rik
|
UTSW |
10 |
78,902,325 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8103:2610008E11Rik
|
UTSW |
10 |
78,903,668 (GRCm39) |
missense |
probably benign |
|
|
R8117:2610008E11Rik
|
UTSW |
10 |
78,930,289 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8296:2610008E11Rik
|
UTSW |
10 |
78,903,568 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8316:2610008E11Rik
|
UTSW |
10 |
78,903,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:2610008E11Rik
|
UTSW |
10 |
78,924,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8790:2610008E11Rik
|
UTSW |
10 |
78,928,285 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9044:2610008E11Rik
|
UTSW |
10 |
78,902,314 (GRCm39) |
nonsense |
probably null |
|
|
R9147:2610008E11Rik
|
UTSW |
10 |
78,903,406 (GRCm39) |
nonsense |
probably null |
|
|
R9148:2610008E11Rik
|
UTSW |
10 |
78,903,406 (GRCm39) |
nonsense |
probably null |
|
|
R9474:2610008E11Rik
|
UTSW |
10 |
78,903,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTGTGAATTAAGTCCCTGAG -3'
(R):5'- AGGAGATGGATACTTTCTTTACCC -3'
Sequencing Primer
(F):5'- GTCCCTGAGTAAGTAGAACACTC -3'
(R):5'- GCTCAAAGAAAACTGTTTACATCCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation