Incidental Mutation 'R6157:4930407I10Rik'
| ID |
489663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930407I10Rik
|
| Ensembl Gene |
ENSMUSG00000075524 |
| Gene Name |
RIKEN cDNA 4930407I10 gene |
| Synonyms |
LOC328573 |
| MMRRC Submission |
044304-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81943352-81950739 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81947617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 505
(K505E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100396]
|
| AlphaFold |
D3Z5T8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100396
AA Change: K505E
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: K505E
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
93% (40/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
T |
5: 8,874,245 (GRCm39) |
N390I |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,077 (GRCm39) |
M1520L |
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,123,400 (GRCm39) |
R396* |
probably null |
Het |
| Atp2a3 |
G |
A |
11: 72,871,442 (GRCm39) |
V648M |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,162,733 (GRCm39) |
D203G |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,779,363 (GRCm39) |
D13V |
probably damaging |
Het |
| Dnajc10 |
A |
T |
2: 80,147,735 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,250,253 (GRCm39) |
Y1729C |
probably damaging |
Het |
| Dynlt2b |
G |
A |
16: 32,238,660 (GRCm39) |
A12T |
possibly damaging |
Het |
| Ecsit |
T |
C |
9: 21,985,987 (GRCm39) |
Y213C |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,385,880 (GRCm39) |
K654R |
probably damaging |
Het |
| Hdac9 |
G |
T |
12: 34,439,428 (GRCm39) |
A383E |
probably damaging |
Het |
| Hltf |
T |
A |
3: 20,130,660 (GRCm39) |
S293T |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,254,648 (GRCm39) |
D2359E |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,571,222 (GRCm39) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,504 (GRCm39) |
N289S |
possibly damaging |
Het |
| Meioc |
T |
C |
11: 102,559,227 (GRCm39) |
S50P |
probably damaging |
Het |
| Mocs1 |
G |
T |
17: 49,761,764 (GRCm39) |
E619D |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,361,371 (GRCm39) |
|
probably benign |
Het |
| Or51i1 |
T |
A |
7: 103,671,105 (GRCm39) |
N140I |
possibly damaging |
Het |
| Pag1 |
A |
T |
3: 9,758,896 (GRCm39) |
H407Q |
probably benign |
Het |
| Plaat1 |
A |
G |
16: 29,036,501 (GRCm39) |
I46M |
possibly damaging |
Het |
| Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
| Pld4 |
C |
T |
12: 112,734,535 (GRCm39) |
T432I |
probably damaging |
Het |
| Psd3 |
T |
G |
8: 68,574,179 (GRCm39) |
M1L |
probably benign |
Het |
| Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,885,052 (GRCm39) |
L390P |
probably damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,349,631 (GRCm39) |
E6D |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,672,244 (GRCm39) |
L1409Q |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,601,250 (GRCm39) |
T684A |
probably benign |
Het |
| Smpd4 |
G |
T |
16: 17,458,930 (GRCm39) |
|
probably null |
Het |
| Snx18 |
T |
C |
13: 113,753,725 (GRCm39) |
S403G |
probably damaging |
Het |
| Spsb4 |
G |
T |
9: 96,878,160 (GRCm39) |
H54Q |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,871,072 (GRCm39) |
Y236C |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,751,843 (GRCm39) |
S982N |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,675,749 (GRCm39) |
S776P |
probably damaging |
Het |
| Tln1 |
G |
A |
4: 43,534,744 (GRCm39) |
P2166S |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,279,350 (GRCm39) |
Q83L |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,693,188 (GRCm39) |
K2458* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,460,467 (GRCm39) |
Y2576F |
probably benign |
Het |
| Xrcc6 |
C |
A |
15: 81,913,305 (GRCm39) |
|
probably null |
Het |
| Zbtb48 |
A |
G |
4: 152,106,064 (GRCm39) |
F380L |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
probably benign |
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 |
|
|
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 |
|
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'- ACACGAGACCAGTTTGGAGG -3'
(R):5'- CACCTGGTTTGCTGCATCAG -3'
Sequencing Primer
(F):5'- CCAGTTTGGAGGCAATACTGGTAC -3'
(R):5'- CCAGTGTCGAGATGTCTACAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation