Incidental Mutation 'R0280:1700061G19Rik'
| ID |
37482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700061G19Rik
|
| Ensembl Gene |
ENSMUSG00000024209 |
| Gene Name |
RIKEN cDNA 1700061G19 gene |
| Synonyms |
|
| MMRRC Submission |
038502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R0280 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56875477-56888904 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 56885169 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 577
(Y577*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025048]
|
| AlphaFold |
Q08EE8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025048
AA Change: Y577*
|
| SMART Domains |
Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: Y577*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
80 |
554 |
6.5e-68 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
C |
T |
8: 24,674,054 (GRCm38) |
G38R |
probably benign |
Het |
| Ankrd16 |
T |
G |
2: 11,781,501 (GRCm38) |
V187G |
probably damaging |
Het |
| AU019823 |
T |
C |
9: 50,609,379 (GRCm38) |
T123A |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 45,943,450 (GRCm38) |
N793Y |
probably benign |
Het |
| Ccdc170 |
T |
C |
10: 4,558,663 (GRCm38) |
I629T |
possibly damaging |
Het |
| Clcn6 |
A |
G |
4: 148,008,715 (GRCm38) |
L836P |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,508,561 (GRCm38) |
A551S |
possibly damaging |
Het |
| Crocc |
T |
C |
4: 141,028,426 (GRCm38) |
E1097G |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,271,602 (GRCm38) |
V494E |
probably damaging |
Het |
| Drg1 |
A |
T |
11: 3,256,537 (GRCm38) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 97,039,006 (GRCm38) |
K134E |
possibly damaging |
Het |
| Dyrk1b |
T |
C |
7: 28,184,312 (GRCm38) |
Y198H |
probably damaging |
Het |
| Esr1 |
G |
T |
10: 4,939,289 (GRCm38) |
V396F |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,856,951 (GRCm38) |
D289G |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,193,133 (GRCm38) |
V339A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,890,816 (GRCm38) |
Q1286L |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,969,444 (GRCm38) |
H1118R |
probably damaging |
Het |
| Fuk |
A |
T |
8: 110,894,748 (GRCm38) |
V188D |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,852 (GRCm38) |
D321N |
probably benign |
Het |
| Gaa |
T |
G |
11: 119,284,547 (GRCm38) |
V917G |
probably damaging |
Het |
| Gm973 |
GCC |
GC |
1: 59,544,680 (GRCm38) |
|
probably null |
Het |
| Kidins220 |
A |
G |
12: 25,010,141 (GRCm38) |
T767A |
probably damaging |
Het |
| Kif7 |
A |
G |
7: 79,698,823 (GRCm38) |
S1257P |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,397,838 (GRCm38) |
L1391P |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 70,787,920 (GRCm38) |
V291A |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 70,783,795 (GRCm38) |
Y681H |
probably damaging |
Het |
| Metrn |
C |
T |
17: 25,795,135 (GRCm38) |
R239H |
probably benign |
Het |
| Mphosph10 |
C |
A |
7: 64,376,703 (GRCm38) |
K666N |
possibly damaging |
Het |
| Mtbp |
C |
T |
15: 55,586,461 (GRCm38) |
T433I |
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,799,249 (GRCm38) |
K365E |
probably damaging |
Het |
| Nanog |
A |
G |
6: 122,713,398 (GRCm38) |
D229G |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,241,014 (GRCm38) |
N338S |
possibly damaging |
Het |
| Nphp4 |
T |
A |
4: 152,551,936 (GRCm38) |
|
probably benign |
Het |
| Olfr1279 |
T |
C |
2: 111,307,072 (GRCm38) |
F289S |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,607,034 (GRCm38) |
E357G |
probably damaging |
Het |
| Polb |
A |
T |
8: 22,640,392 (GRCm38) |
Y173N |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,162,775 (GRCm38) |
S74T |
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,370,883 (GRCm38) |
C37S |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,227,513 (GRCm38) |
|
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,809,000 (GRCm38) |
S369G |
probably damaging |
Het |
| Sgf29 |
A |
G |
7: 126,671,571 (GRCm38) |
E108G |
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,706,017 (GRCm38) |
L942P |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,896,822 (GRCm38) |
L188* |
probably null |
Het |
| Slc9a3 |
T |
A |
13: 74,159,424 (GRCm38) |
I445N |
probably damaging |
Het |
| Sufu |
A |
T |
19: 46,450,673 (GRCm38) |
|
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,713,751 (GRCm38) |
T118I |
probably damaging |
Het |
| Ttc25 |
A |
T |
11: 100,550,265 (GRCm38) |
K107N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,740,479 (GRCm38) |
R26690H |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,340,139 (GRCm38) |
I293V |
possibly damaging |
Het |
| Vmn2r68 |
C |
G |
7: 85,233,258 (GRCm38) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 85,233,249 (GRCm38) |
|
probably benign |
Het |
| Vsig8 |
A |
G |
1: 172,561,538 (GRCm38) |
D119G |
probably benign |
Het |
|
| Other mutations in 1700061G19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:1700061G19Rik
|
APN |
17 |
56,882,203 (GRCm38) |
nonsense |
probably null |
|
|
IGL01833:1700061G19Rik
|
APN |
17 |
56,881,062 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02420:1700061G19Rik
|
APN |
17 |
56,880,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02969:1700061G19Rik
|
APN |
17 |
56,883,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03054:1700061G19Rik
|
UTSW |
17 |
56,886,528 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0197:1700061G19Rik
|
UTSW |
17 |
56,883,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0257:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R0279:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R0281:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R0282:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R0329:1700061G19Rik
|
UTSW |
17 |
56,883,631 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0330:1700061G19Rik
|
UTSW |
17 |
56,883,631 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0349:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R0518:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R0519:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R0521:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R0604:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R0883:1700061G19Rik
|
UTSW |
17 |
56,883,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1561:1700061G19Rik
|
UTSW |
17 |
56,877,431 (GRCm38) |
missense |
probably benign |
|
|
R1779:1700061G19Rik
|
UTSW |
17 |
56,885,169 (GRCm38) |
nonsense |
probably null |
|
|
R2008:1700061G19Rik
|
UTSW |
17 |
56,886,478 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2102:1700061G19Rik
|
UTSW |
17 |
56,884,949 (GRCm38) |
nonsense |
probably null |
|
|
R2247:1700061G19Rik
|
UTSW |
17 |
56,877,435 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R2484:1700061G19Rik
|
UTSW |
17 |
56,882,641 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2917:1700061G19Rik
|
UTSW |
17 |
56,885,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3149:1700061G19Rik
|
UTSW |
17 |
56,876,348 (GRCm38) |
missense |
probably benign |
|
|
R3773:1700061G19Rik
|
UTSW |
17 |
56,876,262 (GRCm38) |
start codon destroyed |
probably null |
0.00 |
|
R4829:1700061G19Rik
|
UTSW |
17 |
56,883,500 (GRCm38) |
splice site |
probably null |
|
|
R4860:1700061G19Rik
|
UTSW |
17 |
56,888,655 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4860:1700061G19Rik
|
UTSW |
17 |
56,888,655 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4887:1700061G19Rik
|
UTSW |
17 |
56,876,324 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5043:1700061G19Rik
|
UTSW |
17 |
56,885,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5112:1700061G19Rik
|
UTSW |
17 |
56,877,465 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5161:1700061G19Rik
|
UTSW |
17 |
56,882,888 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5214:1700061G19Rik
|
UTSW |
17 |
56,886,493 (GRCm38) |
missense |
probably benign |
|
|
R5287:1700061G19Rik
|
UTSW |
17 |
56,876,221 (GRCm38) |
unclassified |
probably benign |
|
|
R5403:1700061G19Rik
|
UTSW |
17 |
56,876,221 (GRCm38) |
unclassified |
probably benign |
|
|
R5779:1700061G19Rik
|
UTSW |
17 |
56,881,061 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5997:1700061G19Rik
|
UTSW |
17 |
56,876,373 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6198:1700061G19Rik
|
UTSW |
17 |
56,882,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6259:1700061G19Rik
|
UTSW |
17 |
56,877,513 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6357:1700061G19Rik
|
UTSW |
17 |
56,877,591 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6754:1700061G19Rik
|
UTSW |
17 |
56,883,358 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6842:1700061G19Rik
|
UTSW |
17 |
56,877,432 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7042:1700061G19Rik
|
UTSW |
17 |
56,885,098 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7181:1700061G19Rik
|
UTSW |
17 |
56,881,037 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7445:1700061G19Rik
|
UTSW |
17 |
56,882,973 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7511:1700061G19Rik
|
UTSW |
17 |
56,882,954 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8122:1700061G19Rik
|
UTSW |
17 |
56,886,670 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8553:1700061G19Rik
|
UTSW |
17 |
56,881,021 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8919:1700061G19Rik
|
UTSW |
17 |
56,882,218 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9460:1700061G19Rik
|
UTSW |
17 |
56,876,316 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9469:1700061G19Rik
|
UTSW |
17 |
56,876,283 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9766:1700061G19Rik
|
UTSW |
17 |
56,882,177 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:1700061G19Rik
|
UTSW |
17 |
56,883,463 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCACTTCCTAGAGAAGGGGATG -3'
(R):5'- GCCTGCCTTTCCAAAGAGGCTTA -3'
Sequencing Primer
(F):5'- CTAGAGAAGGGGATGTTTGGG -3'
(R):5'- ctcaccagtctcctcccc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation