Incidental Mutation 'R8391:1600015I10Rik'
| ID |
647375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1600015I10Rik
|
| Ensembl Gene |
ENSMUSG00000029813 |
| Gene Name |
RIKEN cDNA 1600015I10 gene |
| Synonyms |
|
| MMRRC Submission |
067756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R8391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48929895-48933687 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48932668 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 616
(W616R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031837]
|
| AlphaFold |
E9Q745 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031837
AA Change: W616R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: W616R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
50 |
136 |
1.7e-25 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
152 |
252 |
3.5e-16 |
PFAM |
|
Pfam:Cu_amine_oxid
|
306 |
708 |
7.1e-94 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,550,218 (GRCm38) |
S155P |
possibly damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,576,279 (GRCm38) |
R101W |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,512,398 (GRCm38) |
N154I |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,448,716 (GRCm38) |
I641F |
possibly damaging |
Het |
| Bach1 |
G |
A |
16: 87,719,291 (GRCm38) |
R240Q |
probably benign |
Het |
| Cacna1b |
G |
A |
2: 24,706,200 (GRCm38) |
A493V |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,377,230 (GRCm38) |
A1939V |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,348,745 (GRCm38) |
I1027V |
probably benign |
Het |
| Cbln3 |
G |
A |
14: 55,883,066 (GRCm38) |
R170C |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,955,309 (GRCm38) |
S842G |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,807,193 (GRCm38) |
Q284L |
unknown |
Het |
| Crybg2 |
T |
C |
4: 134,075,724 (GRCm38) |
F889L |
probably damaging |
Het |
| Fam160a1 |
T |
C |
3: 85,688,481 (GRCm38) |
N366D |
probably damaging |
Het |
| Gars |
T |
A |
6: 55,048,142 (GRCm38) |
Y124N |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,604,133 (GRCm38) |
F228S |
probably damaging |
Het |
| Gm5565 |
C |
A |
5: 146,160,152 (GRCm38) |
R59L |
probably benign |
Het |
| Gm8947 |
A |
T |
1: 151,192,986 (GRCm38) |
D190V |
probably benign |
Het |
| Grid2ip |
T |
C |
5: 143,380,196 (GRCm38) |
M543T |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,704,215 (GRCm38) |
L957P |
probably damaging |
Het |
| Hint1 |
T |
C |
11: 54,866,542 (GRCm38) |
I18T |
possibly damaging |
Het |
| Il23r |
T |
C |
6: 67,452,390 (GRCm38) |
S323G |
probably benign |
Het |
| Iqcf3 |
T |
G |
9: 106,560,976 (GRCm38) |
E16A |
unknown |
Het |
| Kcnj1 |
A |
T |
9: 32,396,732 (GRCm38) |
T151S |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,553,843 (GRCm38) |
T685K |
probably benign |
Het |
| Lipo4 |
T |
A |
19: 33,511,565 (GRCm38) |
H206L |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,604,185 (GRCm38) |
Y1081H |
probably damaging |
Het |
| Masp1 |
A |
T |
16: 23,470,378 (GRCm38) |
H557Q |
possibly damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,524,943 (GRCm38) |
T605I |
possibly damaging |
Het |
| Olfr366 |
T |
A |
2: 37,220,265 (GRCm38) |
Y259N |
probably damaging |
Het |
| Olfr50 |
C |
T |
2: 36,794,084 (GRCm38) |
P283S |
probably damaging |
Het |
| Pkmyt1 |
C |
T |
17: 23,735,039 (GRCm38) |
R307C |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,335,411 (GRCm38) |
I136V |
probably benign |
Het |
| Ppp1r12c |
A |
C |
7: 4,497,432 (GRCm38) |
Y150D |
probably damaging |
Het |
| Qrich2 |
C |
G |
11: 116,465,577 (GRCm38) |
V149L |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,193,478 (GRCm38) |
F176L |
|
Het |
| Ric8a |
T |
A |
7: 140,858,003 (GRCm38) |
S52T |
probably benign |
Het |
| Romo1 |
G |
T |
2: 156,144,420 (GRCm38) |
|
probably benign |
Het |
| Rps6ka1 |
G |
A |
4: 133,864,035 (GRCm38) |
H318Y |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,937,807 (GRCm38) |
N41S |
probably benign |
Het |
| Srrm4 |
T |
G |
5: 116,444,696 (GRCm38) |
T567P |
unknown |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm38) |
P111R |
probably damaging |
Het |
| St6galnac4 |
G |
T |
2: 32,594,074 (GRCm38) |
D95Y |
probably damaging |
Het |
| Sult2a6 |
T |
C |
7: 14,222,591 (GRCm38) |
|
probably null |
Het |
| Synj2 |
A |
G |
17: 5,941,521 (GRCm38) |
E24G |
probably damaging |
Het |
| Try10 |
T |
G |
6: 41,357,372 (GRCm38) |
L166R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,774,478 (GRCm38) |
I18371F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,732,200 (GRCm38) |
V28767A |
probably damaging |
Het |
| Uhrf1bp1l |
T |
C |
10: 89,809,743 (GRCm38) |
V1226A |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,331,185 (GRCm38) |
L1306Q |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 120,126,956 (GRCm38) |
T674S |
probably benign |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,612,874 (GRCm38) |
Y279C |
probably benign |
Het |
|
| Other mutations in 1600015I10Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00925:1600015I10Rik
|
APN |
6 |
48,931,040 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01347:1600015I10Rik
|
APN |
6 |
48,932,543 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01751:1600015I10Rik
|
APN |
6 |
48,930,588 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL01915:1600015I10Rik
|
APN |
6 |
48,931,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02669:1600015I10Rik
|
APN |
6 |
48,931,473 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03033:1600015I10Rik
|
APN |
6 |
48,932,518 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03242:1600015I10Rik
|
APN |
6 |
48,932,545 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0096:1600015I10Rik
|
UTSW |
6 |
48,931,188 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0096:1600015I10Rik
|
UTSW |
6 |
48,931,188 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0448:1600015I10Rik
|
UTSW |
6 |
48,933,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1488:1600015I10Rik
|
UTSW |
6 |
48,933,447 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1498:1600015I10Rik
|
UTSW |
6 |
48,931,371 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1520:1600015I10Rik
|
UTSW |
6 |
48,931,297 (GRCm38) |
nonsense |
probably null |
|
|
R1922:1600015I10Rik
|
UTSW |
6 |
48,931,286 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1992:1600015I10Rik
|
UTSW |
6 |
48,930,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1997:1600015I10Rik
|
UTSW |
6 |
48,932,429 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2021:1600015I10Rik
|
UTSW |
6 |
48,931,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3771:1600015I10Rik
|
UTSW |
6 |
48,931,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4208:1600015I10Rik
|
UTSW |
6 |
48,931,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4790:1600015I10Rik
|
UTSW |
6 |
48,930,552 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5114:1600015I10Rik
|
UTSW |
6 |
48,931,358 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5610:1600015I10Rik
|
UTSW |
6 |
48,931,019 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5823:1600015I10Rik
|
UTSW |
6 |
48,930,552 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5847:1600015I10Rik
|
UTSW |
6 |
48,933,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6233:1600015I10Rik
|
UTSW |
6 |
48,930,965 (GRCm38) |
missense |
probably benign |
|
|
R6357:1600015I10Rik
|
UTSW |
6 |
48,930,974 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6694:1600015I10Rik
|
UTSW |
6 |
48,930,546 (GRCm38) |
missense |
probably benign |
0.21 |
|
R6733:1600015I10Rik
|
UTSW |
6 |
48,930,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6894:1600015I10Rik
|
UTSW |
6 |
48,930,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6898:1600015I10Rik
|
UTSW |
6 |
48,931,041 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6916:1600015I10Rik
|
UTSW |
6 |
48,931,053 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7242:1600015I10Rik
|
UTSW |
6 |
48,931,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7762:1600015I10Rik
|
UTSW |
6 |
48,932,686 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8257:1600015I10Rik
|
UTSW |
6 |
48,932,497 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8839:1600015I10Rik
|
UTSW |
6 |
48,931,040 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8863:1600015I10Rik
|
UTSW |
6 |
48,930,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9266:1600015I10Rik
|
UTSW |
6 |
48,930,237 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9274:1600015I10Rik
|
UTSW |
6 |
48,930,407 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9380:1600015I10Rik
|
UTSW |
6 |
48,933,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9382:1600015I10Rik
|
UTSW |
6 |
48,930,364 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9562:1600015I10Rik
|
UTSW |
6 |
48,930,975 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9565:1600015I10Rik
|
UTSW |
6 |
48,930,975 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9703:1600015I10Rik
|
UTSW |
6 |
48,932,695 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9781:1600015I10Rik
|
UTSW |
6 |
48,930,726 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
X0062:1600015I10Rik
|
UTSW |
6 |
48,933,132 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
Z1176:1600015I10Rik
|
UTSW |
6 |
48,932,468 (GRCm38) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACATCAGGCACTTGGAAATACC -3'
(R):5'- GAAAATTGCCCATCGCCCTC -3'
Sequencing Primer
(F):5'- GGCACTTGGAAATACCCTAAAG -3'
(R):5'- GGCAGGATCTCTGTATGCATTTCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation