Incidental Mutation 'R5201:4930407I10Rik'
| ID |
400825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930407I10Rik
|
| Ensembl Gene |
ENSMUSG00000075524 |
| Gene Name |
RIKEN cDNA 4930407I10 gene |
| Synonyms |
LOC328573 |
| MMRRC Submission |
042776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81943352-81950739 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 81946745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 214
(T214N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100396]
|
| AlphaFold |
D3Z5T8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100396
AA Change: T214N
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: T214N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4727
|
25 |
234 |
1.1e-109 |
PFAM |
|
internal_repeat_1
|
321 |
406 |
9.89e-8 |
PROSPERO |
|
low complexity region
|
453 |
465 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
593 |
707 |
6.03e-6 |
PROSPERO |
|
low complexity region
|
735 |
752 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
842 |
958 |
6.03e-6 |
PROSPERO |
|
internal_repeat_1
|
876 |
962 |
9.89e-8 |
PROSPERO |
|
low complexity region
|
985 |
996 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1133 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1199 |
1208 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1282 |
1296 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,615,680 (GRCm39) |
|
probably null |
Het |
| Arap2 |
T |
C |
5: 62,840,832 (GRCm39) |
E678G |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,580 (GRCm39) |
N130S |
probably benign |
Het |
| Cby2 |
A |
G |
14: 75,821,449 (GRCm39) |
V101A |
probably damaging |
Het |
| Cyp2b10 |
A |
G |
7: 25,616,419 (GRCm39) |
D342G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,715 (GRCm39) |
Y248H |
possibly damaging |
Het |
| Drd5 |
A |
T |
5: 38,477,366 (GRCm39) |
M120L |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,158,403 (GRCm39) |
R629G |
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,884,521 (GRCm39) |
Y279C |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,864,590 (GRCm39) |
I215L |
probably benign |
Het |
| Enpp6 |
C |
A |
8: 47,518,486 (GRCm39) |
Q205K |
probably damaging |
Het |
| Fam170a |
A |
T |
18: 50,415,193 (GRCm39) |
T280S |
probably benign |
Het |
| Fam222a |
G |
A |
5: 114,749,127 (GRCm39) |
A108T |
possibly damaging |
Het |
| Fgd3 |
G |
T |
13: 49,449,854 (GRCm39) |
P132T |
probably benign |
Het |
| Fzr1 |
A |
T |
10: 81,203,362 (GRCm39) |
L399H |
probably damaging |
Het |
| Galnt15 |
G |
A |
14: 31,771,822 (GRCm39) |
R289Q |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,770,865 (GRCm39) |
V834A |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,300,679 (GRCm39) |
L93P |
probably damaging |
Het |
| Itgae |
G |
A |
11: 73,001,382 (GRCm39) |
R71Q |
probably benign |
Het |
| Itprid1 |
T |
C |
6: 55,944,991 (GRCm39) |
S571P |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,431,145 (GRCm39) |
S1181T |
probably benign |
Het |
| Lrig3 |
C |
A |
10: 125,849,020 (GRCm39) |
P946Q |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,738 (GRCm39) |
C1674* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,609,126 (GRCm39) |
K710R |
probably benign |
Het |
| Man1a2 |
A |
T |
3: 100,524,328 (GRCm39) |
N373K |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,847 (GRCm39) |
N32S |
possibly damaging |
Het |
| Mrtfb |
A |
C |
16: 13,219,456 (GRCm39) |
T701P |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,674,021 (GRCm39) |
T652S |
probably damaging |
Het |
| Nfia |
A |
G |
4: 97,999,462 (GRCm39) |
Y485C |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,496,433 (GRCm39) |
T355S |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,847,995 (GRCm39) |
I195K |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,331,971 (GRCm39) |
V344D |
probably damaging |
Het |
| Plekhn1 |
C |
A |
4: 156,314,984 (GRCm39) |
V558L |
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,987,591 (GRCm39) |
S635P |
possibly damaging |
Het |
| Prss46 |
T |
A |
9: 110,680,543 (GRCm39) |
C229* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,589,647 (GRCm39) |
|
probably null |
Het |
| Slc27a3 |
A |
T |
3: 90,296,526 (GRCm39) |
L191Q |
probably benign |
Het |
| Surf4 |
A |
G |
2: 26,823,778 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
A |
G |
2: 9,956,995 (GRCm39) |
S391P |
probably damaging |
Het |
| Tep1 |
A |
C |
14: 51,105,567 (GRCm39) |
L151R |
probably benign |
Het |
| Tmprss11d |
A |
C |
5: 86,457,214 (GRCm39) |
N148K |
possibly damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,846 (GRCm39) |
D724G |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,862,519 (GRCm39) |
D779E |
probably benign |
Het |
| Zfp943 |
A |
T |
17: 22,211,794 (GRCm39) |
K293N |
probably damaging |
Het |
|
| Other mutations in 4930407I10Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:4930407I10Rik
|
APN |
15 |
81,950,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02135:4930407I10Rik
|
APN |
15 |
81,949,205 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02367:4930407I10Rik
|
APN |
15 |
81,949,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02626:4930407I10Rik
|
APN |
15 |
81,949,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02885:4930407I10Rik
|
APN |
15 |
81,948,152 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03199:4930407I10Rik
|
APN |
15 |
81,946,556 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0062:4930407I10Rik
|
UTSW |
15 |
81,950,504 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0062:4930407I10Rik
|
UTSW |
15 |
81,947,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0086:4930407I10Rik
|
UTSW |
15 |
81,946,802 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0578:4930407I10Rik
|
UTSW |
15 |
81,943,556 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1130:4930407I10Rik
|
UTSW |
15 |
81,943,561 (GRCm39) |
missense |
probably benign |
|
|
R1218:4930407I10Rik
|
UTSW |
15 |
81,948,353 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1942:4930407I10Rik
|
UTSW |
15 |
81,949,625 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2380:4930407I10Rik
|
UTSW |
15 |
81,949,036 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3945:4930407I10Rik
|
UTSW |
15 |
81,949,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4096:4930407I10Rik
|
UTSW |
15 |
81,946,406 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4259:4930407I10Rik
|
UTSW |
15 |
81,947,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4261:4930407I10Rik
|
UTSW |
15 |
81,947,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4805:4930407I10Rik
|
UTSW |
15 |
81,950,628 (GRCm39) |
nonsense |
probably null |
|
|
R4992:4930407I10Rik
|
UTSW |
15 |
81,948,203 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5094:4930407I10Rik
|
UTSW |
15 |
81,946,883 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5161:4930407I10Rik
|
UTSW |
15 |
81,947,542 (GRCm39) |
nonsense |
probably null |
|
|
R5305:4930407I10Rik
|
UTSW |
15 |
81,943,420 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5588:4930407I10Rik
|
UTSW |
15 |
81,949,417 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5844:4930407I10Rik
|
UTSW |
15 |
81,950,065 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6007:4930407I10Rik
|
UTSW |
15 |
81,946,940 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6157:4930407I10Rik
|
UTSW |
15 |
81,947,617 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6188:4930407I10Rik
|
UTSW |
15 |
81,943,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6350:4930407I10Rik
|
UTSW |
15 |
81,947,764 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6408:4930407I10Rik
|
UTSW |
15 |
81,949,307 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6805:4930407I10Rik
|
UTSW |
15 |
81,946,744 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6911:4930407I10Rik
|
UTSW |
15 |
81,948,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6962:4930407I10Rik
|
UTSW |
15 |
81,949,150 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7446:4930407I10Rik
|
UTSW |
15 |
81,950,441 (GRCm39) |
missense |
probably benign |
|
|
R7492:4930407I10Rik
|
UTSW |
15 |
81,948,560 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7699:4930407I10Rik
|
UTSW |
15 |
81,948,306 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7700:4930407I10Rik
|
UTSW |
15 |
81,948,306 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7963:4930407I10Rik
|
UTSW |
15 |
81,948,137 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8215:4930407I10Rik
|
UTSW |
15 |
81,949,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8257:4930407I10Rik
|
UTSW |
15 |
81,950,153 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8311:4930407I10Rik
|
UTSW |
15 |
81,947,440 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8436:4930407I10Rik
|
UTSW |
15 |
81,949,936 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8530:4930407I10Rik
|
UTSW |
15 |
81,949,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8531:4930407I10Rik
|
UTSW |
15 |
81,950,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8886:4930407I10Rik
|
UTSW |
15 |
81,950,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9109:4930407I10Rik
|
UTSW |
15 |
81,947,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9298:4930407I10Rik
|
UTSW |
15 |
81,947,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9424:4930407I10Rik
|
UTSW |
15 |
81,947,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9576:4930407I10Rik
|
UTSW |
15 |
81,947,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9654:4930407I10Rik
|
UTSW |
15 |
81,948,916 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9696:4930407I10Rik
|
UTSW |
15 |
81,949,697 (GRCm39) |
missense |
probably benign |
|
|
R9710:4930407I10Rik
|
UTSW |
15 |
81,946,852 (GRCm39) |
missense |
probably benign |
|
|
RF004:4930407I10Rik
|
UTSW |
15 |
81,943,550 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0011:4930407I10Rik
|
UTSW |
15 |
81,943,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:4930407I10Rik
|
UTSW |
15 |
81,947,512 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCCATGTCAAGACCTGC -3'
(R):5'- ACTGTCTTGGTTTGACTCCATG -3'
Sequencing Primer
(F):5'- GGGATGTCCATACCTCTACTGAG -3'
(R):5'- TGACTCCATGGTCCTAAGGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation