Incidental Mutation 'R7210:D630003M21Rik'
| ID |
560979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D630003M21Rik
|
| Ensembl Gene |
ENSMUSG00000037813 |
| Gene Name |
RIKEN cDNA D630003M21 gene |
| Synonyms |
|
| MMRRC Submission |
045239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 158057932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000046944
|
| SMART Domains |
Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
| 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 null
Transcript: ENSMUST00000103121
|
| SMART Domains |
Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
| 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 null
Transcript: ENSMUST00000169335
|
| SMART Domains |
Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
G |
A |
11: 94,264,767 (GRCm39) |
P194S |
probably benign |
Het |
| Ackr2 |
C |
T |
9: 121,737,943 (GRCm39) |
A106V |
possibly damaging |
Het |
| Alg3 |
G |
A |
16: 20,424,644 (GRCm39) |
P112L |
unknown |
Het |
| Areg |
T |
A |
5: 91,288,764 (GRCm39) |
Y23* |
probably null |
Het |
| Aspn |
A |
G |
13: 49,719,967 (GRCm39) |
T328A |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,241 (GRCm39) |
E249D |
possibly damaging |
Het |
| Bptf |
G |
A |
11: 106,945,290 (GRCm39) |
Q2650* |
probably null |
Het |
| Btbd3 |
A |
T |
2: 138,125,664 (GRCm39) |
R283W |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,955,615 (GRCm39) |
H1035R |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,433,900 (GRCm39) |
Y959* |
probably null |
Het |
| Cnot1 |
T |
C |
8: 96,515,286 (GRCm39) |
Y25C |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,902,121 (GRCm39) |
H2373Y |
possibly damaging |
Het |
| Ctnna3 |
T |
C |
10: 64,086,547 (GRCm39) |
L373P |
probably damaging |
Het |
| Cyp8b1 |
T |
A |
9: 121,744,246 (GRCm39) |
D362V |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,803,801 (GRCm39) |
I249T |
probably damaging |
Het |
| Fam149b |
T |
G |
14: 20,428,540 (GRCm39) |
I475M |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,476,540 (GRCm39) |
Y1862C |
probably damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,353,719 (GRCm39) |
N355Y |
possibly damaging |
Het |
| Fgd6 |
C |
T |
10: 93,969,954 (GRCm39) |
T1201I |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,788,692 (GRCm39) |
D174V |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,481,527 (GRCm39) |
H26R |
probably benign |
Het |
| Gm37240 |
T |
A |
3: 84,405,114 (GRCm39) |
T230S |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,464,135 (GRCm39) |
Q609R |
probably damaging |
Het |
| Gse1 |
C |
A |
8: 120,957,441 (GRCm39) |
T644K |
unknown |
Het |
| Ifit1bl1 |
T |
G |
19: 34,571,564 (GRCm39) |
I298L |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,686,034 (GRCm39) |
D85G |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,471,411 (GRCm39) |
V1504A |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,831,568 (GRCm39) |
L1664P |
probably damaging |
Het |
| Mrpl35 |
A |
G |
6: 71,794,722 (GRCm39) |
L82S |
possibly damaging |
Het |
| Myo7b |
G |
A |
18: 32,140,155 (GRCm39) |
R212C |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,114 (GRCm39) |
V684A |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nop58 |
G |
T |
1: 59,749,539 (GRCm39) |
|
probably null |
Het |
| Nudt13 |
T |
A |
14: 20,359,852 (GRCm39) |
I193N |
possibly damaging |
Het |
| Nyap1 |
C |
A |
5: 137,736,244 (GRCm39) |
R81L |
probably damaging |
Het |
| Or1e28-ps1 |
T |
C |
11: 73,615,699 (GRCm39) |
I50M |
possibly damaging |
Het |
| Oxct2b |
A |
C |
4: 123,010,069 (GRCm39) |
|
probably benign |
Het |
| Pcf11 |
C |
T |
7: 92,312,684 (GRCm39) |
A230T |
probably benign |
Het |
| Phactr4 |
A |
T |
4: 132,085,582 (GRCm39) |
*695R |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,794,840 (GRCm39) |
S2176P |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,093,543 (GRCm39) |
R133L |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,521,032 (GRCm39) |
N713K |
probably damaging |
Het |
| Ptrh2 |
A |
T |
11: 86,580,793 (GRCm39) |
T137S |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,138,945 (GRCm39) |
Y718C |
possibly damaging |
Het |
| Rftn1 |
T |
A |
17: 50,301,335 (GRCm39) |
R505* |
probably null |
Het |
| Rps15a |
A |
G |
7: 117,708,334 (GRCm39) |
F128L |
probably benign |
Het |
| Slc25a25 |
A |
T |
2: 32,310,408 (GRCm39) |
M177K |
possibly damaging |
Het |
| Smgc |
C |
A |
15: 91,744,492 (GRCm39) |
P631Q |
probably damaging |
Het |
| Sox2 |
T |
C |
3: 34,705,306 (GRCm39) |
S248P |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,760,808 (GRCm39) |
K702E |
probably damaging |
Het |
| Tes |
G |
T |
6: 17,104,761 (GRCm39) |
C414F |
probably damaging |
Het |
| Tet1 |
A |
T |
10: 62,650,280 (GRCm39) |
C14S |
probably null |
Het |
| Tle3 |
C |
T |
9: 61,319,587 (GRCm39) |
P452S |
probably damaging |
Het |
| Tmc6 |
A |
C |
11: 117,666,670 (GRCm39) |
L131R |
possibly damaging |
Het |
| Tnip3 |
C |
T |
6: 65,570,495 (GRCm39) |
R30* |
probably null |
Het |
| Tnrc6b |
G |
T |
15: 80,813,486 (GRCm39) |
G1748W |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,558,284 (GRCm39) |
D459A |
probably damaging |
Het |
| Zdhhc2 |
A |
T |
8: 40,920,480 (GRCm39) |
R246S |
probably damaging |
Het |
| Zscan22 |
T |
A |
7: 12,640,748 (GRCm39) |
C331S |
probably damaging |
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 |
|
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'- TATCCCGGACTGGAGAAGCTTG -3'
(R):5'- TCCAGCTGAGCAATACTACTGG -3'
Sequencing Primer
(F):5'- AAGCTTGACTCCCAGGGTCTC -3'
(R):5'- ACCTTGGCCAGACGTTTAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation