Incidental Mutation 'R3952:1700017N19Rik'
ID |
308005 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700017N19Rik
|
Ensembl Gene |
ENSMUSG00000056912 |
Gene Name |
RIKEN cDNA 1700017N19 gene |
Synonyms |
|
MMRRC Submission |
040829-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R3952 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
100426346-100454257 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 100451158 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041162]
[ENSMUST00000186825]
[ENSMUST00000187119]
[ENSMUST00000188736]
[ENSMUST00000190386]
[ENSMUST00000190708]
[ENSMUST00000191033]
[ENSMUST00000218464]
[ENSMUST00000191336]
|
AlphaFold |
A0A087WPJ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186825
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187119
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188736
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190386
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190708
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191033
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191336
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Abi3bp |
C |
T |
16: 56,424,401 (GRCm39) |
T450I |
possibly damaging |
Het |
Abl1 |
A |
T |
2: 31,674,549 (GRCm39) |
T213S |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,150,318 (GRCm39) |
R1762W |
probably damaging |
Het |
Arl2 |
G |
T |
19: 6,184,707 (GRCm39) |
T182N |
probably benign |
Het |
Brd8 |
C |
G |
18: 34,747,497 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,508,822 (GRCm39) |
Y666H |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,225,707 (GRCm39) |
V3127A |
possibly damaging |
Het |
Copg1 |
G |
A |
6: 87,882,198 (GRCm39) |
A598T |
probably benign |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Epha1 |
C |
A |
6: 42,341,219 (GRCm39) |
L535F |
probably damaging |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fads2b |
T |
C |
2: 85,330,548 (GRCm39) |
|
probably benign |
Het |
Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kpna1 |
A |
T |
16: 35,823,252 (GRCm39) |
T35S |
probably benign |
Het |
Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,489,495 (GRCm39) |
|
probably benign |
Het |
Mrpl48 |
T |
A |
7: 100,209,130 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Or10a3n |
C |
A |
7: 108,493,189 (GRCm39) |
V142L |
probably benign |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,505 (GRCm39) |
I214T |
probably benign |
Het |
Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
Pcx |
C |
T |
19: 4,667,995 (GRCm39) |
H506Y |
probably benign |
Het |
Pla2g6 |
G |
T |
15: 79,197,296 (GRCm39) |
P93T |
probably damaging |
Het |
Pramel28 |
C |
T |
4: 143,692,356 (GRCm39) |
W215* |
probably null |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rcor1 |
A |
G |
12: 111,006,169 (GRCm39) |
|
probably benign |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Sytl2 |
T |
A |
7: 90,030,700 (GRCm39) |
|
probably benign |
Het |
Tia1 |
T |
C |
6: 86,393,319 (GRCm39) |
F53S |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Tmod1 |
A |
G |
4: 46,078,315 (GRCm39) |
N41S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,583,139 (GRCm39) |
I22585V |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
Vps39 |
C |
T |
2: 120,180,656 (GRCm39) |
R43Q |
probably benign |
Het |
Vwa5b2 |
T |
C |
16: 20,417,111 (GRCm39) |
*603Q |
probably null |
Het |
Zeb1 |
G |
A |
18: 5,772,716 (GRCm39) |
A1002T |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,347,449 (GRCm39) |
|
probably null |
Het |
|
Other mutations in 1700017N19Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01565:1700017N19Rik
|
APN |
10 |
100,439,222 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02159:1700017N19Rik
|
APN |
10 |
100,446,527 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02556:1700017N19Rik
|
APN |
10 |
100,446,579 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02629:1700017N19Rik
|
APN |
10 |
100,445,006 (GRCm39) |
splice site |
probably benign |
|
IGL02692:1700017N19Rik
|
APN |
10 |
100,439,410 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02962:1700017N19Rik
|
APN |
10 |
100,446,455 (GRCm39) |
splice site |
probably null |
|
R0145:1700017N19Rik
|
UTSW |
10 |
100,437,783 (GRCm39) |
missense |
probably damaging |
0.96 |
R0402:1700017N19Rik
|
UTSW |
10 |
100,445,115 (GRCm39) |
missense |
probably damaging |
0.99 |
R1514:1700017N19Rik
|
UTSW |
10 |
100,448,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R1519:1700017N19Rik
|
UTSW |
10 |
100,439,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R1680:1700017N19Rik
|
UTSW |
10 |
100,439,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R1686:1700017N19Rik
|
UTSW |
10 |
100,448,722 (GRCm39) |
missense |
probably damaging |
0.97 |
R3951:1700017N19Rik
|
UTSW |
10 |
100,451,158 (GRCm39) |
splice site |
probably benign |
|
R4423:1700017N19Rik
|
UTSW |
10 |
100,441,495 (GRCm39) |
missense |
probably damaging |
0.99 |
R4905:1700017N19Rik
|
UTSW |
10 |
100,448,680 (GRCm39) |
splice site |
probably null |
|
R5507:1700017N19Rik
|
UTSW |
10 |
100,445,095 (GRCm39) |
missense |
probably benign |
0.02 |
R5898:1700017N19Rik
|
UTSW |
10 |
100,451,070 (GRCm39) |
missense |
probably benign |
0.20 |
R5898:1700017N19Rik
|
UTSW |
10 |
100,448,762 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5977:1700017N19Rik
|
UTSW |
10 |
100,451,106 (GRCm39) |
missense |
probably damaging |
0.99 |
R7034:1700017N19Rik
|
UTSW |
10 |
100,445,118 (GRCm39) |
critical splice donor site |
probably null |
|
R7036:1700017N19Rik
|
UTSW |
10 |
100,445,118 (GRCm39) |
critical splice donor site |
probably null |
|
R7394:1700017N19Rik
|
UTSW |
10 |
100,445,038 (GRCm39) |
missense |
probably benign |
0.01 |
R7412:1700017N19Rik
|
UTSW |
10 |
100,448,691 (GRCm39) |
nonsense |
probably null |
|
R7870:1700017N19Rik
|
UTSW |
10 |
100,441,505 (GRCm39) |
missense |
probably benign |
|
R7914:1700017N19Rik
|
UTSW |
10 |
100,428,538 (GRCm39) |
missense |
probably benign |
|
R8466:1700017N19Rik
|
UTSW |
10 |
100,437,873 (GRCm39) |
missense |
probably benign |
0.00 |
R8558:1700017N19Rik
|
UTSW |
10 |
100,430,497 (GRCm39) |
missense |
probably benign |
0.23 |
R9004:1700017N19Rik
|
UTSW |
10 |
100,454,197 (GRCm39) |
unclassified |
probably benign |
|
R9105:1700017N19Rik
|
UTSW |
10 |
100,439,407 (GRCm39) |
nonsense |
probably null |
|
R9641:1700017N19Rik
|
UTSW |
10 |
100,430,498 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1088:1700017N19Rik
|
UTSW |
10 |
100,441,501 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:1700017N19Rik
|
UTSW |
10 |
100,448,291 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTACTGCTGAGATGTTTATAGCTTTG -3'
(R):5'- TGATAACTTCAGCAAGACAGCATG -3'
Sequencing Primer
(F):5'- CTGAGATGTTTATAGCTTTGAAATGC -3'
(R):5'- TCAGCAAGACAGCATGTTATTTATAC -3'
|
Posted On |
2015-04-17 |