Incidental Mutation 'R5489:D630003M21Rik'
| ID |
431966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D630003M21Rik
|
| Ensembl Gene |
ENSMUSG00000037813 |
| Gene Name |
RIKEN cDNA D630003M21 gene |
| Synonyms |
|
| MMRRC Submission |
043050-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5489 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158182533-158229222 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 158217021 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 320
(T320S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046944]
[ENSMUST00000103121]
[ENSMUST00000169335]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046944
AA Change: T320S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: T320S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
535 |
N/A |
INTRINSIC |
|
Blast:SEC14
|
567 |
702 |
1e-6 |
BLAST |
|
SCOP:d1aua_2
|
567 |
711 |
5e-9 |
SMART |
|
Blast:SPEC
|
712 |
824 |
3e-16 |
BLAST |
|
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103121
AA Change: T320S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: T320S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
535 |
N/A |
INTRINSIC |
|
Blast:SEC14
|
567 |
702 |
7e-7 |
BLAST |
|
SCOP:d1aua_2
|
567 |
711 |
4e-9 |
SMART |
|
Blast:SPEC
|
712 |
824 |
3e-16 |
BLAST |
|
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169335
AA Change: T320S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: T320S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
535 |
N/A |
INTRINSIC |
|
Blast:SEC14
|
567 |
702 |
7e-7 |
BLAST |
|
SCOP:d1aua_2
|
567 |
711 |
4e-9 |
SMART |
|
Blast:SPEC
|
712 |
824 |
3e-16 |
BLAST |
|
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1106 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
| Validation Efficiency |
95% (57/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,377,952 (GRCm38) |
M1K |
probably null |
Het |
| Abca14 |
T |
A |
7: 120,252,250 (GRCm38) |
V817D |
probably damaging |
Het |
| Aqr |
T |
C |
2: 114,133,073 (GRCm38) |
N632S |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,413,745 (GRCm38) |
T208A |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,608,645 (GRCm38) |
|
probably null |
Het |
| Caln1 |
G |
T |
5: 130,414,832 (GRCm38) |
R2L |
possibly damaging |
Het |
| Cdk17 |
A |
G |
10: 93,232,412 (GRCm38) |
T344A |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,213,048 (GRCm38) |
|
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,268,249 (GRCm38) |
F196L |
probably damaging |
Het |
| Clec2f |
T |
C |
6: 129,020,486 (GRCm38) |
|
noncoding transcript |
Het |
| Col4a1 |
A |
T |
8: 11,312,550 (GRCm38) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,616,525 (GRCm38) |
R579H |
probably damaging |
Het |
| Cyb561 |
A |
G |
11: 105,935,523 (GRCm38) |
V202A |
probably benign |
Het |
| Cyp2c69 |
T |
G |
19: 39,851,159 (GRCm38) |
Q340P |
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,196,847 (GRCm38) |
S129T |
possibly damaging |
Het |
| Ddx54 |
A |
G |
5: 120,624,721 (GRCm38) |
T636A |
probably benign |
Het |
| Dnah8 |
T |
G |
17: 30,790,956 (GRCm38) |
F3774V |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,407,529 (GRCm38) |
S674P |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 59,024,318 (GRCm38) |
L8Q |
probably null |
Het |
| Fam83b |
T |
C |
9: 76,545,599 (GRCm38) |
N62S |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,209,970 (GRCm38) |
V94E |
probably damaging |
Het |
| Frmd8 |
T |
A |
19: 5,852,652 (GRCm38) |
Q457L |
probably damaging |
Het |
| Gm1966 |
T |
A |
7: 106,601,590 (GRCm38) |
|
noncoding transcript |
Het |
| Heatr6 |
A |
G |
11: 83,774,432 (GRCm38) |
E741G |
probably damaging |
Het |
| Hnrnpab |
A |
G |
11: 51,604,813 (GRCm38) |
L133S |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 114,843,435 (GRCm38) |
W1077R |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,669,264 (GRCm38) |
D1228G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,841,038 (GRCm38) |
|
probably benign |
Het |
| Leap2 |
T |
G |
11: 53,422,413 (GRCm38) |
*77C |
probably null |
Het |
| Mmp20 |
A |
G |
9: 7,643,957 (GRCm38) |
|
probably null |
Het |
| Mrps9 |
T |
G |
1: 42,898,433 (GRCm38) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,751,432 (GRCm38) |
S158P |
probably benign |
Het |
| Mus81 |
T |
C |
19: 5,487,889 (GRCm38) |
|
probably benign |
Het |
| Nrip3 |
T |
C |
7: 109,761,838 (GRCm38) |
T210A |
probably damaging |
Het |
| Olfr591 |
T |
C |
7: 103,173,451 (GRCm38) |
Y62C |
probably damaging |
Het |
| Padi2 |
T |
C |
4: 140,944,488 (GRCm38) |
F509S |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,022,207 (GRCm38) |
T660A |
probably benign |
Het |
| Pdzd2 |
G |
A |
15: 12,382,676 (GRCm38) |
P1197L |
probably benign |
Het |
| Rec8 |
A |
T |
14: 55,622,826 (GRCm38) |
Q291L |
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,411,490 (GRCm38) |
|
probably null |
Het |
| Sart3 |
A |
G |
5: 113,771,380 (GRCm38) |
W86R |
probably damaging |
Het |
| Slc17a4 |
A |
G |
13: 23,898,842 (GRCm38) |
|
probably null |
Het |
| Tdpoz1 |
T |
A |
3: 93,670,667 (GRCm38) |
Y270F |
possibly damaging |
Het |
| Thap3 |
T |
A |
4: 151,985,652 (GRCm38) |
|
probably benign |
Het |
| Tmem45a |
T |
A |
16: 56,825,711 (GRCm38) |
|
probably null |
Het |
| Trim43a |
A |
T |
9: 88,582,176 (GRCm38) |
I47F |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,770,542 (GRCm38) |
I2044L |
probably benign |
Het |
| Zfp735 |
G |
A |
11: 73,710,593 (GRCm38) |
W121* |
probably null |
Het |
| Zmym2 |
A |
G |
14: 56,956,255 (GRCm38) |
K1176E |
possibly damaging |
Het |
|
| Other mutations in D630003M21Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:D630003M21Rik
|
APN |
2 |
158,213,412 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL01447:D630003M21Rik
|
APN |
2 |
158,217,356 (GRCm38) |
missense |
probably benign |
|
|
IGL01501:D630003M21Rik
|
APN |
2 |
158,201,067 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01874:D630003M21Rik
|
APN |
2 |
158,204,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02116:D630003M21Rik
|
APN |
2 |
158,203,210 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL02212:D630003M21Rik
|
APN |
2 |
158,210,171 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02477:D630003M21Rik
|
APN |
2 |
158,217,488 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL02644:D630003M21Rik
|
APN |
2 |
158,216,810 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02861:D630003M21Rik
|
APN |
2 |
158,200,998 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02896:D630003M21Rik
|
APN |
2 |
158,217,285 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03089:D630003M21Rik
|
APN |
2 |
158,216,744 (GRCm38) |
missense |
probably benign |
|
|
IGL03148:D630003M21Rik
|
APN |
2 |
158,217,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ANU05:D630003M21Rik
|
UTSW |
2 |
158,196,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
ANU18:D630003M21Rik
|
UTSW |
2 |
158,217,648 (GRCm38) |
missense |
probably benign |
|
|
F5770:D630003M21Rik
|
UTSW |
2 |
158,201,011 (GRCm38) |
missense |
probably benign |
0.38 |
|
R0113:D630003M21Rik
|
UTSW |
2 |
158,196,575 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0147:D630003M21Rik
|
UTSW |
2 |
158,203,067 (GRCm38) |
splice site |
probably benign |
|
|
R0513:D630003M21Rik
|
UTSW |
2 |
158,200,308 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0637:D630003M21Rik
|
UTSW |
2 |
158,195,407 (GRCm38) |
intron |
probably benign |
|
|
R1594:D630003M21Rik
|
UTSW |
2 |
158,211,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1774:D630003M21Rik
|
UTSW |
2 |
158,220,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1823:D630003M21Rik
|
UTSW |
2 |
158,217,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1864:D630003M21Rik
|
UTSW |
2 |
158,203,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1983:D630003M21Rik
|
UTSW |
2 |
158,208,421 (GRCm38) |
missense |
probably benign |
0.34 |
|
R2042:D630003M21Rik
|
UTSW |
2 |
158,215,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2259:D630003M21Rik
|
UTSW |
2 |
158,204,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2350:D630003M21Rik
|
UTSW |
2 |
158,201,011 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3157:D630003M21Rik
|
UTSW |
2 |
158,195,472 (GRCm38) |
intron |
probably benign |
|
|
R3937:D630003M21Rik
|
UTSW |
2 |
158,200,360 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4124:D630003M21Rik
|
UTSW |
2 |
158,196,593 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4437:D630003M21Rik
|
UTSW |
2 |
158,213,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4473:D630003M21Rik
|
UTSW |
2 |
158,213,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4513:D630003M21Rik
|
UTSW |
2 |
158,204,802 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4514:D630003M21Rik
|
UTSW |
2 |
158,204,802 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4729:D630003M21Rik
|
UTSW |
2 |
158,216,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4794:D630003M21Rik
|
UTSW |
2 |
158,196,139 (GRCm38) |
missense |
probably benign |
|
|
R4947:D630003M21Rik
|
UTSW |
2 |
158,186,196 (GRCm38) |
missense |
unknown |
|
|
R5005:D630003M21Rik
|
UTSW |
2 |
158,211,643 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5022:D630003M21Rik
|
UTSW |
2 |
158,217,633 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5167:D630003M21Rik
|
UTSW |
2 |
158,205,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5191:D630003M21Rik
|
UTSW |
2 |
158,201,035 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5488:D630003M21Rik
|
UTSW |
2 |
158,217,021 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5495:D630003M21Rik
|
UTSW |
2 |
158,220,511 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R5708:D630003M21Rik
|
UTSW |
2 |
158,220,392 (GRCm38) |
splice site |
probably null |
|
|
R5770:D630003M21Rik
|
UTSW |
2 |
158,195,580 (GRCm38) |
intron |
probably benign |
|
|
R5789:D630003M21Rik
|
UTSW |
2 |
158,216,814 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R5817:D630003M21Rik
|
UTSW |
2 |
158,196,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5898:D630003M21Rik
|
UTSW |
2 |
158,204,657 (GRCm38) |
splice site |
probably null |
|
|
R5969:D630003M21Rik
|
UTSW |
2 |
158,217,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6084:D630003M21Rik
|
UTSW |
2 |
158,217,584 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6111:D630003M21Rik
|
UTSW |
2 |
158,213,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6225:D630003M21Rik
|
UTSW |
2 |
158,217,401 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6307:D630003M21Rik
|
UTSW |
2 |
158,215,951 (GRCm38) |
missense |
probably benign |
0.34 |
|
R6350:D630003M21Rik
|
UTSW |
2 |
158,220,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6548:D630003M21Rik
|
UTSW |
2 |
158,205,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6583:D630003M21Rik
|
UTSW |
2 |
158,220,516 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6821:D630003M21Rik
|
UTSW |
2 |
158,204,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6963:D630003M21Rik
|
UTSW |
2 |
158,200,308 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7021:D630003M21Rik
|
UTSW |
2 |
158,216,750 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R7210:D630003M21Rik
|
UTSW |
2 |
158,216,012 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7345:D630003M21Rik
|
UTSW |
2 |
158,217,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7355:D630003M21Rik
|
UTSW |
2 |
158,200,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7514:D630003M21Rik
|
UTSW |
2 |
158,217,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7587:D630003M21Rik
|
UTSW |
2 |
158,201,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7587:D630003M21Rik
|
UTSW |
2 |
158,196,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7713:D630003M21Rik
|
UTSW |
2 |
158,216,778 (GRCm38) |
nonsense |
probably null |
|
|
R7792:D630003M21Rik
|
UTSW |
2 |
158,210,162 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7819:D630003M21Rik
|
UTSW |
2 |
158,216,798 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7832:D630003M21Rik
|
UTSW |
2 |
158,217,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8115:D630003M21Rik
|
UTSW |
2 |
158,216,590 (GRCm38) |
missense |
probably benign |
0.23 |
|
R8482:D630003M21Rik
|
UTSW |
2 |
158,216,932 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8829:D630003M21Rik
|
UTSW |
2 |
158,216,936 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8928:D630003M21Rik
|
UTSW |
2 |
158,217,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9183:D630003M21Rik
|
UTSW |
2 |
158,217,192 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9254:D630003M21Rik
|
UTSW |
2 |
158,200,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9661:D630003M21Rik
|
UTSW |
2 |
158,205,753 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
V7580:D630003M21Rik
|
UTSW |
2 |
158,201,011 (GRCm38) |
missense |
probably benign |
0.38 |
|
V7581:D630003M21Rik
|
UTSW |
2 |
158,201,011 (GRCm38) |
missense |
probably benign |
0.38 |
|
V7583:D630003M21Rik
|
UTSW |
2 |
158,201,011 (GRCm38) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTAGTATGGGGCTGCTG -3'
(R):5'- GGACAAGTATCCAGGGCTCATC -3'
Sequencing Primer
(F):5'- TGTGGCTGTCGCACTGC -3'
(R):5'- TCGCCTTTAGGACAGACAGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation