Incidental Mutation 'IGL02367:4930407I10Rik'
| ID |
290785 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4930407I10Rik
|
| Ensembl Gene |
ENSMUSG00000075524 |
| Gene Name |
RIKEN cDNA 4930407I10 gene |
| Synonyms |
LOC328573 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81943352-81950739 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81949748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1215
(L1215P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089178]
[ENSMUST00000100396]
[ENSMUST00000229119]
|
| AlphaFold |
D3Z5T8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089178
|
| SMART Domains |
Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
123 |
498 |
1e-3 |
SMART |
|
low complexity region
|
956 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1045 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100396
AA Change: L1215P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: L1215P
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229119
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl7 |
T |
C |
4: 148,584,601 (GRCm39) |
N49S |
possibly damaging |
Het |
| Asns |
A |
G |
6: 7,685,411 (GRCm39) |
|
probably benign |
Het |
| Atr |
T |
A |
9: 95,781,194 (GRCm39) |
Y1419* |
probably null |
Het |
| Bptf |
A |
T |
11: 106,964,178 (GRCm39) |
I1672N |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,341,667 (GRCm39) |
T370I |
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,610,315 (GRCm39) |
T490A |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,167,732 (GRCm39) |
C223* |
probably null |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,430,316 (GRCm39) |
V308A |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,158,926 (GRCm39) |
V703A |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,440,802 (GRCm39) |
F210L |
probably damaging |
Het |
| Gm6526 |
T |
G |
14: 43,988,262 (GRCm39) |
V171G |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,702,805 (GRCm39) |
Y894H |
probably damaging |
Het |
| Grm3 |
C |
A |
5: 9,561,660 (GRCm39) |
C730F |
probably damaging |
Het |
| Habp4 |
C |
A |
13: 64,321,905 (GRCm39) |
P181T |
probably damaging |
Het |
| Hdac4 |
A |
G |
1: 91,886,171 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
A |
G |
19: 8,872,959 (GRCm39) |
D306G |
probably benign |
Het |
| Mid2 |
T |
A |
X: 139,637,245 (GRCm39) |
I273N |
probably damaging |
Het |
| Ndufs2 |
A |
T |
1: 171,066,934 (GRCm39) |
Y114* |
probably null |
Het |
| Neu4 |
G |
T |
1: 93,952,213 (GRCm39) |
R194L |
probably damaging |
Het |
| Ntng1 |
A |
T |
3: 110,042,829 (GRCm39) |
|
probably null |
Het |
| Nub1 |
A |
G |
5: 24,894,392 (GRCm39) |
M1V |
probably null |
Het |
| Olfml2a |
A |
G |
2: 38,844,680 (GRCm39) |
T379A |
probably benign |
Het |
| Or9e1 |
A |
T |
11: 58,732,338 (GRCm39) |
I133F |
probably benign |
Het |
| Pex3 |
G |
T |
10: 13,400,643 (GRCm39) |
Q303K |
probably benign |
Het |
| Pmp2 |
A |
T |
3: 10,247,560 (GRCm39) |
I43N |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,726,601 (GRCm39) |
D319E |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,288,181 (GRCm39) |
|
probably null |
Het |
| Rpl15-ps6 |
T |
C |
15: 52,341,368 (GRCm39) |
|
noncoding transcript |
Het |
| Rwdd3 |
A |
G |
3: 120,952,679 (GRCm39) |
V104A |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,191,775 (GRCm39) |
V157E |
probably damaging |
Het |
| Slc4a11 |
T |
A |
2: 130,526,879 (GRCm39) |
I750F |
probably damaging |
Het |
| Tcea1 |
G |
A |
1: 4,948,356 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
T |
1: 188,516,943 (GRCm39) |
M3218L |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,607,715 (GRCm39) |
|
probably benign |
Het |
| Zfp493 |
T |
A |
13: 67,935,089 (GRCm39) |
Y347* |
probably null |
Het |
| Zswim6 |
T |
C |
13: 107,880,637 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
|
R5201:4930407I10Rik
|
UTSW |
15 |
81,946,745 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation