Incidental Mutation 'R8839:1600015I10Rik'
| ID |
674314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1600015I10Rik
|
| Ensembl Gene |
ENSMUSG00000029813 |
| Gene Name |
RIKEN cDNA 1600015I10 gene |
| Synonyms |
|
| MMRRC Submission |
068667-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R8839 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48929895-48933687 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48931040 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 325
(Y325H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031837]
|
| AlphaFold |
E9Q745 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031837
AA Change: Y325H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: Y325H
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,998,368 (GRCm38) |
Y475H |
probably damaging |
Het |
| Ankfy1 |
T |
C |
11: 72,730,566 (GRCm38) |
I226T |
probably benign |
Het |
| Anln |
G |
A |
9: 22,356,172 (GRCm38) |
S825L |
probably benign |
Het |
| Arb2a |
A |
T |
13: 77,999,662 (GRCm38) |
H283L |
probably benign |
Het |
| B3galt4 |
A |
G |
17: 33,950,893 (GRCm38) |
S124P |
possibly damaging |
Het |
| Cabin1 |
T |
C |
10: 75,656,816 (GRCm38) |
I1882V |
probably benign |
Het |
| Caprin2 |
A |
T |
6: 148,873,027 (GRCm38) |
S262R |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,442,888 (GRCm38) |
I1420L |
|
Het |
| Cyp2b9 |
T |
G |
7: 26,200,760 (GRCm38) |
V331G |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,109,086 (GRCm38) |
M433L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,653,915 (GRCm38) |
D597G |
probably benign |
Het |
| Emc3 |
G |
A |
6: 113,519,970 (GRCm38) |
R147C |
possibly damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,667,237 (GRCm38) |
|
probably benign |
Het |
| Flii |
T |
C |
11: 60,718,607 (GRCm38) |
T665A |
possibly damaging |
Het |
| Fxr1 |
A |
G |
3: 34,046,682 (GRCm38) |
|
probably benign |
Het |
| Gpr37 |
T |
G |
6: 25,669,370 (GRCm38) |
I492L |
probably benign |
Het |
| Hmg20b |
A |
C |
10: 81,348,915 (GRCm38) |
W108G |
probably damaging |
Het |
| Ighv9-3 |
G |
A |
12: 114,140,765 (GRCm38) |
T93I |
possibly damaging |
Het |
| Inpp5a |
T |
C |
7: 139,389,433 (GRCm38) |
V15A |
probably benign |
Het |
| Inpp5d |
T |
A |
1: 87,691,711 (GRCm38) |
Y376N |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,693,673 (GRCm38) |
F854L |
probably benign |
Het |
| Ipo7 |
A |
T |
7: 110,042,016 (GRCm38) |
K314N |
probably damaging |
Het |
| Ltn1 |
C |
A |
16: 87,418,502 (GRCm38) |
C415F |
probably damaging |
Het |
| Mfsd9 |
T |
C |
1: 40,774,394 (GRCm38) |
T254A |
probably benign |
Het |
| Musk |
A |
G |
4: 58,286,151 (GRCm38) |
T14A |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 27,094,434 (GRCm38) |
V1438A |
|
Het |
| Nnt |
A |
T |
13: 119,357,637 (GRCm38) |
V636D |
unknown |
Het |
| Or10ak14 |
A |
G |
4: 118,754,214 (GRCm38) |
L110P |
probably damaging |
Het |
| Or11h23 |
A |
T |
14: 50,710,500 (GRCm38) |
T57S |
possibly damaging |
Het |
| Or52ae9 |
A |
G |
7: 103,740,814 (GRCm38) |
I142T |
probably benign |
Het |
| Ost4 |
T |
C |
5: 30,907,591 (GRCm38) |
|
probably benign |
Het |
| Pdzph1 |
T |
C |
17: 58,950,242 (GRCm38) |
T934A |
probably benign |
Het |
| Plekhn1 |
T |
A |
4: 156,222,589 (GRCm38) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,342,833 (GRCm38) |
|
probably benign |
Het |
| Ptch1 |
A |
T |
13: 63,541,224 (GRCm38) |
L413Q |
probably damaging |
Het |
| S100pbp |
A |
G |
4: 129,182,207 (GRCm38) |
|
probably null |
Het |
| Sec23a |
T |
C |
12: 58,990,995 (GRCm38) |
K361E |
possibly damaging |
Het |
| Sema3b |
C |
T |
9: 107,601,353 (GRCm38) |
|
probably benign |
Het |
| Serpina3g |
A |
G |
12: 104,237,779 (GRCm38) |
|
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 132,101,472 (GRCm38) |
|
silent |
Het |
| Smug1 |
T |
C |
15: 103,155,820 (GRCm38) |
R225G |
possibly damaging |
Het |
| Srbd1 |
T |
A |
17: 85,988,421 (GRCm38) |
I854L |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,156,648 (GRCm38) |
R417C |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,884,939 (GRCm38) |
Y384H |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 73,058,238 (GRCm38) |
K90* |
probably null |
Het |
| Tubgcp6 |
A |
T |
15: 89,103,478 (GRCm38) |
H1097Q |
possibly damaging |
Het |
| Ugt2b37 |
A |
G |
5: 87,254,556 (GRCm38) |
L72P |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,396,556 (GRCm38) |
H442Q |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,946,281 (GRCm38) |
Y398* |
probably null |
Het |
| Zfhx4 |
A |
G |
3: 5,401,855 (GRCm38) |
T2383A |
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 |
|
R8391:1600015I10Rik
|
UTSW |
6 |
48,932,668 (GRCm38) |
missense |
probably damaging |
0.96 |
|
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'- TGGTATAACGGCAAGCTCTAC -3'
(R):5'- CCCACATCCATGTACTTGGC -3'
Sequencing Primer
(F):5'- CTGGCTCAGAAATACGCAGATG -3'
(R):5'- ACATCCATGTACTTGGCCTGAGTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation