Incidental Mutation 'R6307:D630003M21Rik'
ID |
509449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D630003M21Rik
|
Ensembl Gene |
ENSMUSG00000037813 |
Gene Name |
RIKEN cDNA D630003M21 gene |
Synonyms |
|
MMRRC Submission |
044412-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6307 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 158057871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 536
(F536L)
|
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: F536L
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000040546 Gene: ENSMUSG00000037813 AA Change: F536L
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: F536L
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099410 Gene: ENSMUSG00000037813 AA Change: F536L
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: F536L
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000130623 Gene: ENSMUSG00000037813 AA Change: F536L
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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,843,221 (GRCm39) |
L1232P |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,188,351 (GRCm39) |
I1922F |
possibly damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arpc5 |
T |
C |
1: 152,647,206 (GRCm39) |
V103A |
possibly damaging |
Het |
Atp9a |
C |
A |
2: 168,510,090 (GRCm39) |
V430F |
probably benign |
Het |
Bod1 |
A |
G |
11: 31,616,932 (GRCm39) |
S110P |
probably damaging |
Het |
Cacna1c |
C |
A |
6: 118,590,914 (GRCm39) |
V1453F |
probably damaging |
Het |
Capn8 |
T |
A |
1: 182,435,264 (GRCm39) |
M414K |
probably damaging |
Het |
Cbl |
A |
T |
9: 44,069,809 (GRCm39) |
|
probably null |
Het |
Ccdc42 |
A |
T |
11: 68,479,106 (GRCm39) |
Q98L |
probably damaging |
Het |
Ccn3 |
T |
C |
15: 54,611,421 (GRCm39) |
|
probably null |
Het |
Cd200 |
C |
A |
16: 45,217,545 (GRCm39) |
V49L |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,812,531 (GRCm39) |
S2060P |
probably benign |
Het |
Ces1g |
A |
T |
8: 94,057,820 (GRCm39) |
H160Q |
possibly damaging |
Het |
Chrnb2 |
G |
T |
3: 89,668,831 (GRCm39) |
H161Q |
probably damaging |
Het |
Ctns |
G |
A |
11: 73,082,559 (GRCm39) |
T57I |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
Dcc |
C |
T |
18: 71,943,826 (GRCm39) |
R275Q |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,289,990 (GRCm39) |
H2508Q |
possibly damaging |
Het |
Elf5 |
C |
A |
2: 103,269,757 (GRCm39) |
Q113K |
probably damaging |
Het |
Fam83a |
T |
G |
15: 57,849,507 (GRCm39) |
V17G |
possibly damaging |
Het |
Farsa |
T |
C |
8: 85,587,674 (GRCm39) |
|
probably null |
Het |
Fat2 |
G |
C |
11: 55,172,106 (GRCm39) |
T2869S |
possibly damaging |
Het |
Fgg |
A |
T |
3: 82,920,283 (GRCm39) |
Q354L |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,372,517 (GRCm39) |
D679G |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,270,975 (GRCm39) |
R83* |
probably null |
Het |
Gm17482 |
T |
A |
6: 115,204,311 (GRCm39) |
|
probably benign |
Het |
Hmgxb4 |
T |
A |
8: 75,749,927 (GRCm39) |
V481D |
possibly damaging |
Het |
Ifi207 |
A |
C |
1: 173,552,619 (GRCm39) |
Y926D |
probably damaging |
Het |
Ikzf5 |
T |
A |
7: 130,993,377 (GRCm39) |
N264Y |
probably damaging |
Het |
Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
Krt33b |
A |
T |
11: 99,915,694 (GRCm39) |
C351S |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,427,944 (GRCm39) |
D543G |
probably damaging |
Het |
Lrrfip2 |
C |
T |
9: 111,053,021 (GRCm39) |
R339W |
probably damaging |
Het |
Mapk3 |
T |
G |
7: 126,363,454 (GRCm39) |
M276R |
probably benign |
Het |
Mgst1 |
T |
C |
6: 138,127,827 (GRCm39) |
V137A |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,558,884 (GRCm39) |
T2470A |
unknown |
Het |
Muc4 |
C |
T |
16: 32,575,237 (GRCm39) |
S1274F |
possibly damaging |
Het |
Myo5c |
A |
C |
9: 75,180,198 (GRCm39) |
K713T |
possibly damaging |
Het |
Myzap |
T |
C |
9: 71,466,146 (GRCm39) |
D170G |
possibly damaging |
Het |
Naa50 |
T |
C |
16: 43,979,831 (GRCm39) |
V113A |
probably damaging |
Het |
Neu3 |
T |
C |
7: 99,462,929 (GRCm39) |
T265A |
probably benign |
Het |
Nin |
T |
C |
12: 70,061,631 (GRCm39) |
T2078A |
possibly damaging |
Het |
Nomo1 |
G |
A |
7: 45,683,260 (GRCm39) |
|
probably benign |
Het |
Nprl3 |
A |
G |
11: 32,189,828 (GRCm39) |
L273P |
probably damaging |
Het |
Oaf |
T |
A |
9: 43,136,216 (GRCm39) |
H120L |
possibly damaging |
Het |
Or10s1 |
T |
C |
9: 39,985,824 (GRCm39) |
S78P |
probably damaging |
Het |
Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8k21 |
T |
C |
2: 86,145,468 (GRCm39) |
H54R |
probably benign |
Het |
Pcdhga3 |
T |
A |
18: 37,809,674 (GRCm39) |
|
probably benign |
Het |
Polq |
G |
A |
16: 36,837,718 (GRCm39) |
|
probably null |
Het |
Prdm8 |
C |
T |
5: 98,333,162 (GRCm39) |
P243L |
possibly damaging |
Het |
Prim2 |
T |
C |
1: 33,701,373 (GRCm39) |
D138G |
probably benign |
Het |
Prl2c5 |
A |
G |
13: 13,365,175 (GRCm39) |
E107G |
probably benign |
Het |
Prr14l |
T |
A |
5: 32,984,869 (GRCm39) |
H1542L |
probably damaging |
Het |
Rab26 |
T |
C |
17: 24,749,072 (GRCm39) |
E203G |
probably damaging |
Het |
Rtkn2 |
A |
T |
10: 67,871,662 (GRCm39) |
H350L |
possibly damaging |
Het |
Scara3 |
T |
C |
14: 66,175,710 (GRCm39) |
D19G |
probably benign |
Het |
Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
Sdcbp |
A |
G |
4: 6,385,059 (GRCm39) |
M93V |
probably benign |
Het |
Sema6a |
C |
A |
18: 47,382,231 (GRCm39) |
R772L |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,584,006 (GRCm39) |
K428R |
probably benign |
Het |
Sptbn2 |
G |
A |
19: 4,774,674 (GRCm39) |
G109D |
probably damaging |
Het |
Tmppe |
T |
C |
9: 114,233,812 (GRCm39) |
L37P |
probably benign |
Het |
Tuba1a |
T |
C |
15: 98,849,410 (GRCm39) |
T56A |
probably benign |
Het |
Tut4 |
T |
A |
4: 108,412,817 (GRCm39) |
I1506N |
probably damaging |
Het |
Vmn2r111 |
A |
G |
17: 22,792,070 (GRCm39) |
I62T |
probably benign |
Het |
Vmn2r73 |
A |
G |
7: 85,506,828 (GRCm39) |
I828T |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,686,976 (GRCm39) |
W786R |
probably damaging |
Het |
Zp1 |
G |
A |
19: 10,894,084 (GRCm39) |
T405M |
probably null |
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 |
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 |
R8115:D630003M21Rik
|
UTSW |
2 |
158,058,510 (GRCm39) |
missense |
probably benign |
0.23 |
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'- GGGAATTTAGCAGCCTCCTG -3'
(R):5'- AGAGCAGATCACACTATAAGTTGTG -3'
Sequencing Primer
(F):5'- AATTTAGCAGCCTCCTGAGCCTC -3'
(R):5'- ACACTATAAGTTGTGTTGTCACTTGG -3'
|
Posted On |
2018-04-02 |