Incidental Mutation 'R8115:D630003M21Rik'
ID |
631116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D630003M21Rik
|
Ensembl Gene |
ENSMUSG00000037813 |
Gene Name |
RIKEN cDNA D630003M21 gene |
Synonyms |
|
MMRRC Submission |
067544-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R8115 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 158058510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 463
(H463Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040546
(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: H463Q
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000040546 Gene: ENSMUSG00000037813 AA Change: H463Q
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: H463Q
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099410 Gene: ENSMUSG00000037813 AA Change: H463Q
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: H463Q
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000130623 Gene: ENSMUSG00000037813 AA Change: H463Q
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 |
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.4%
- 20x: 94.2%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
G |
15: 60,791,996 (GRCm39) |
I211L |
probably benign |
Het |
Abhd16b |
G |
A |
2: 181,135,527 (GRCm39) |
R143H |
possibly damaging |
Het |
Abt1 |
T |
C |
13: 23,606,402 (GRCm39) |
E184G |
probably damaging |
Het |
Aqp1 |
AGG |
AGGG |
6: 55,322,498 (GRCm39) |
|
probably null |
Het |
Asxl3 |
G |
A |
18: 22,650,642 (GRCm39) |
R877Q |
probably damaging |
Het |
B3galt1 |
A |
G |
2: 67,948,320 (GRCm39) |
T12A |
possibly damaging |
Het |
Bcat1 |
G |
A |
6: 144,955,819 (GRCm39) |
P354L |
probably damaging |
Het |
C9orf72 |
T |
C |
4: 35,218,763 (GRCm39) |
Y32C |
|
Het |
Cad |
T |
C |
5: 31,218,271 (GRCm39) |
F452L |
possibly damaging |
Het |
Cadps2 |
T |
A |
6: 23,328,897 (GRCm39) |
I973F |
probably benign |
Het |
Cenpq |
T |
C |
17: 41,243,720 (GRCm39) |
N43D |
probably damaging |
Het |
Chd9 |
G |
T |
8: 91,762,960 (GRCm39) |
V2262L |
probably damaging |
Het |
Cttnbp2nl |
G |
T |
3: 104,913,402 (GRCm39) |
Q161K |
probably damaging |
Het |
Defb1 |
C |
T |
8: 22,284,500 (GRCm39) |
H40Y |
probably benign |
Het |
Dmrtb1 |
A |
T |
4: 107,534,256 (GRCm39) |
D186E |
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Efr3a |
T |
A |
15: 65,738,644 (GRCm39) |
F758I |
probably damaging |
Het |
Fap |
A |
G |
2: 62,349,385 (GRCm39) |
I501T |
probably benign |
Het |
Galr3 |
C |
T |
15: 78,927,524 (GRCm39) |
R322* |
probably null |
Het |
Hrnr |
C |
A |
3: 93,231,039 (GRCm39) |
R426S |
unknown |
Het |
Hsp90ab1 |
A |
T |
17: 45,880,201 (GRCm39) |
M476K |
possibly damaging |
Het |
Igsf3 |
G |
T |
3: 101,362,595 (GRCm39) |
R872L |
probably benign |
Het |
Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
Iqsec3 |
T |
G |
6: 121,449,989 (GRCm39) |
R178S |
unknown |
Het |
Itgbl1 |
T |
C |
14: 124,094,955 (GRCm39) |
C327R |
probably damaging |
Het |
Itsn2 |
A |
T |
12: 4,723,602 (GRCm39) |
Q1179L |
possibly damaging |
Het |
Kcnb2 |
T |
C |
1: 15,781,851 (GRCm39) |
*908R |
probably null |
Het |
Kdm5b |
G |
T |
1: 134,547,411 (GRCm39) |
W1020L |
possibly damaging |
Het |
Kpna3 |
C |
A |
14: 61,608,367 (GRCm39) |
V364L |
probably damaging |
Het |
Lsm14a |
T |
C |
7: 34,074,662 (GRCm39) |
I93V |
probably benign |
Het |
Mast2 |
A |
G |
4: 116,292,644 (GRCm39) |
S109P |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,575,678 (GRCm39) |
S1726N |
unknown |
Het |
Myo7a |
T |
C |
7: 97,715,653 (GRCm39) |
D1477G |
probably damaging |
Het |
Nostrin |
G |
A |
2: 69,011,264 (GRCm39) |
|
probably null |
Het |
Oasl1 |
T |
A |
5: 115,074,996 (GRCm39) |
V352E |
probably damaging |
Het |
Or9a2 |
T |
A |
6: 41,748,472 (GRCm39) |
T254S |
probably benign |
Het |
Pafah1b1 |
A |
G |
11: 74,575,319 (GRCm39) |
V195A |
probably damaging |
Het |
Pcdhb4 |
G |
A |
18: 37,442,453 (GRCm39) |
V588M |
probably damaging |
Het |
Pcsk5 |
A |
G |
19: 17,487,530 (GRCm39) |
|
probably null |
Het |
Peg10 |
A |
G |
6: 4,756,707 (GRCm39) |
I428V |
unknown |
Het |
Pmfbp1 |
G |
A |
8: 110,263,669 (GRCm39) |
V824M |
probably damaging |
Het |
Prkag3 |
T |
C |
1: 74,787,118 (GRCm39) |
R47G |
possibly damaging |
Het |
Prl8a1 |
T |
A |
13: 27,758,028 (GRCm39) |
H227L |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,101,288 (GRCm39) |
D2264G |
probably benign |
Het |
Psg28 |
A |
G |
7: 18,164,311 (GRCm39) |
Y134H |
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 184,999,447 (GRCm39) |
Y1019N |
possibly damaging |
Het |
Rbm15 |
A |
T |
3: 107,238,966 (GRCm39) |
F477L |
probably damaging |
Het |
Ric1 |
A |
T |
19: 29,563,973 (GRCm39) |
N576Y |
probably damaging |
Het |
S1pr1 |
T |
A |
3: 115,506,298 (GRCm39) |
T99S |
probably benign |
Het |
Serpinb9b |
G |
T |
13: 33,219,531 (GRCm39) |
V153F |
probably null |
Het |
Sh2d3c |
A |
G |
2: 32,615,276 (GRCm39) |
E122G |
probably benign |
Het |
Slc6a11 |
T |
A |
6: 114,108,442 (GRCm39) |
W69R |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,000,686 (GRCm39) |
I539F |
probably damaging |
Het |
Smgc |
G |
T |
15: 91,733,322 (GRCm39) |
|
probably null |
Het |
Spata17 |
T |
C |
1: 186,849,653 (GRCm39) |
Y194C |
probably damaging |
Het |
Tap1 |
A |
T |
17: 34,412,293 (GRCm39) |
|
probably null |
Het |
Topbp1 |
T |
C |
9: 103,197,740 (GRCm39) |
S440P |
probably benign |
Het |
Trpc6 |
T |
C |
9: 8,609,982 (GRCm39) |
L150P |
probably damaging |
Het |
Ttll4 |
C |
T |
1: 74,726,489 (GRCm39) |
Q696* |
probably null |
Het |
Ubash3b |
C |
T |
9: 40,937,624 (GRCm39) |
E447K |
probably damaging |
Het |
Unc5cl |
T |
C |
17: 48,774,438 (GRCm39) |
S477P |
possibly damaging |
Het |
Unc80 |
A |
G |
1: 66,688,072 (GRCm39) |
T2357A |
probably benign |
Het |
Vmn1r58 |
A |
T |
7: 5,413,341 (GRCm39) |
S296R |
probably benign |
Het |
Vmn2r85 |
G |
T |
10: 130,261,820 (GRCm39) |
N172K |
probably benign |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Yipf7 |
T |
A |
5: 69,684,570 (GRCm39) |
T82S |
probably benign |
Het |
Zap70 |
A |
G |
1: 36,820,287 (GRCm39) |
S523G |
probably damaging |
Het |
Zfp354a |
A |
G |
11: 50,960,490 (GRCm39) |
T233A |
probably benign |
Het |
|
Other mutations in D630003M21Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00905:D630003M21Rik
|
APN |
2 |
158,055,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01447:D630003M21Rik
|
APN |
2 |
158,059,276 (GRCm39) |
missense |
probably benign |
|
IGL01501:D630003M21Rik
|
APN |
2 |
158,042,987 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01874:D630003M21Rik
|
APN |
2 |
158,046,644 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02116:D630003M21Rik
|
APN |
2 |
158,045,130 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02212:D630003M21Rik
|
APN |
2 |
158,052,091 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02477:D630003M21Rik
|
APN |
2 |
158,059,408 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02644:D630003M21Rik
|
APN |
2 |
158,058,730 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02861:D630003M21Rik
|
APN |
2 |
158,042,918 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02896:D630003M21Rik
|
APN |
2 |
158,059,205 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03089:D630003M21Rik
|
APN |
2 |
158,058,664 (GRCm39) |
missense |
probably benign |
|
IGL03148:D630003M21Rik
|
APN |
2 |
158,059,144 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU05:D630003M21Rik
|
UTSW |
2 |
158,038,308 (GRCm39) |
missense |
probably benign |
0.00 |
ANU18:D630003M21Rik
|
UTSW |
2 |
158,059,568 (GRCm39) |
missense |
probably benign |
|
F5770:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably benign |
0.38 |
R0113:D630003M21Rik
|
UTSW |
2 |
158,038,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0147:D630003M21Rik
|
UTSW |
2 |
158,044,987 (GRCm39) |
splice site |
probably benign |
|
R0513:D630003M21Rik
|
UTSW |
2 |
158,042,228 (GRCm39) |
missense |
probably benign |
0.44 |
R0637:D630003M21Rik
|
UTSW |
2 |
158,037,327 (GRCm39) |
intron |
probably benign |
|
R1594:D630003M21Rik
|
UTSW |
2 |
158,053,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R1774:D630003M21Rik
|
UTSW |
2 |
158,062,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R1823:D630003M21Rik
|
UTSW |
2 |
158,059,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:D630003M21Rik
|
UTSW |
2 |
158,045,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R1983:D630003M21Rik
|
UTSW |
2 |
158,050,341 (GRCm39) |
missense |
probably benign |
0.34 |
R2042:D630003M21Rik
|
UTSW |
2 |
158,057,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R2259:D630003M21Rik
|
UTSW |
2 |
158,046,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R2350:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably damaging |
0.96 |
R3157:D630003M21Rik
|
UTSW |
2 |
158,037,392 (GRCm39) |
intron |
probably benign |
|
R3937:D630003M21Rik
|
UTSW |
2 |
158,042,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R4124:D630003M21Rik
|
UTSW |
2 |
158,038,513 (GRCm39) |
missense |
probably damaging |
0.97 |
R4437:D630003M21Rik
|
UTSW |
2 |
158,055,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R4473:D630003M21Rik
|
UTSW |
2 |
158,055,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R4513:D630003M21Rik
|
UTSW |
2 |
158,046,722 (GRCm39) |
missense |
probably benign |
0.01 |
R4514:D630003M21Rik
|
UTSW |
2 |
158,046,722 (GRCm39) |
missense |
probably benign |
0.01 |
R4729:D630003M21Rik
|
UTSW |
2 |
158,058,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R4794:D630003M21Rik
|
UTSW |
2 |
158,038,059 (GRCm39) |
missense |
probably benign |
|
R4947:D630003M21Rik
|
UTSW |
2 |
158,028,116 (GRCm39) |
missense |
unknown |
|
R5005:D630003M21Rik
|
UTSW |
2 |
158,053,563 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5022:D630003M21Rik
|
UTSW |
2 |
158,059,553 (GRCm39) |
missense |
probably damaging |
0.99 |
R5167:D630003M21Rik
|
UTSW |
2 |
158,047,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R5191:D630003M21Rik
|
UTSW |
2 |
158,042,955 (GRCm39) |
missense |
probably benign |
0.06 |
R5488:D630003M21Rik
|
UTSW |
2 |
158,058,941 (GRCm39) |
missense |
probably benign |
0.15 |
R5489:D630003M21Rik
|
UTSW |
2 |
158,058,941 (GRCm39) |
missense |
probably benign |
0.15 |
R5495:D630003M21Rik
|
UTSW |
2 |
158,062,431 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5708:D630003M21Rik
|
UTSW |
2 |
158,062,312 (GRCm39) |
splice site |
probably null |
|
R5770:D630003M21Rik
|
UTSW |
2 |
158,037,500 (GRCm39) |
intron |
probably benign |
|
R5789:D630003M21Rik
|
UTSW |
2 |
158,058,734 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5817:D630003M21Rik
|
UTSW |
2 |
158,038,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R5898:D630003M21Rik
|
UTSW |
2 |
158,046,577 (GRCm39) |
splice site |
probably null |
|
R5969:D630003M21Rik
|
UTSW |
2 |
158,059,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:D630003M21Rik
|
UTSW |
2 |
158,059,504 (GRCm39) |
missense |
probably damaging |
0.99 |
R6111:D630003M21Rik
|
UTSW |
2 |
158,055,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R6225:D630003M21Rik
|
UTSW |
2 |
158,059,321 (GRCm39) |
missense |
probably benign |
0.23 |
R6307:D630003M21Rik
|
UTSW |
2 |
158,057,871 (GRCm39) |
missense |
probably benign |
0.34 |
R6350:D630003M21Rik
|
UTSW |
2 |
158,062,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R6548:D630003M21Rik
|
UTSW |
2 |
158,047,619 (GRCm39) |
critical splice donor site |
probably null |
|
R6583:D630003M21Rik
|
UTSW |
2 |
158,062,436 (GRCm39) |
missense |
probably damaging |
0.98 |
R6821:D630003M21Rik
|
UTSW |
2 |
158,046,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R6963:D630003M21Rik
|
UTSW |
2 |
158,042,228 (GRCm39) |
missense |
probably benign |
0.44 |
R7021:D630003M21Rik
|
UTSW |
2 |
158,058,670 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7210:D630003M21Rik
|
UTSW |
2 |
158,057,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7345:D630003M21Rik
|
UTSW |
2 |
158,059,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R7355:D630003M21Rik
|
UTSW |
2 |
158,042,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R7514:D630003M21Rik
|
UTSW |
2 |
158,059,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R7587:D630003M21Rik
|
UTSW |
2 |
158,042,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R7587:D630003M21Rik
|
UTSW |
2 |
158,038,308 (GRCm39) |
missense |
probably benign |
0.00 |
R7713:D630003M21Rik
|
UTSW |
2 |
158,058,698 (GRCm39) |
nonsense |
probably null |
|
R7792:D630003M21Rik
|
UTSW |
2 |
158,052,082 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7819:D630003M21Rik
|
UTSW |
2 |
158,058,718 (GRCm39) |
missense |
probably damaging |
0.97 |
R7832:D630003M21Rik
|
UTSW |
2 |
158,059,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R8482:D630003M21Rik
|
UTSW |
2 |
158,058,852 (GRCm39) |
missense |
probably benign |
0.01 |
R8829:D630003M21Rik
|
UTSW |
2 |
158,058,856 (GRCm39) |
missense |
probably damaging |
0.98 |
R8928:D630003M21Rik
|
UTSW |
2 |
158,059,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R9183:D630003M21Rik
|
UTSW |
2 |
158,059,112 (GRCm39) |
missense |
probably benign |
0.00 |
R9254:D630003M21Rik
|
UTSW |
2 |
158,042,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R9661:D630003M21Rik
|
UTSW |
2 |
158,047,673 (GRCm39) |
missense |
possibly damaging |
0.72 |
V7580:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably benign |
0.38 |
V7581:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably benign |
0.38 |
V7583:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably benign |
0.38 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGCACCAAGATATAAGTCTGC -3'
(R):5'- TGCAAAAGCCTGTGGGAATG -3'
Sequencing Primer
(F):5'- GCACCAAGATATAAGTCTGCCTTTG -3'
(R):5'- ATGCCAGAAGCCATGGTTC -3'
|
Posted On |
2020-06-30 |