Incidental Mutation 'R4805:4930407I10Rik'
| ID |
370646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930407I10Rik
|
| Ensembl Gene |
ENSMUSG00000075524 |
| Gene Name |
RIKEN cDNA 4930407I10 gene |
| Synonyms |
LOC328573 |
| MMRRC Submission |
041999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R4805 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81943352-81950739 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 81950628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1508
(Y1508*)
|
| 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 null
Transcript: ENSMUST00000100396
AA Change: Y1508*
|
| SMART Domains |
Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: Y1508*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,832,911 (GRCm39) |
E88G |
probably benign |
Het |
| Acaa1b |
A |
G |
9: 118,986,014 (GRCm39) |
S17P |
probably benign |
Het |
| Arhgef7 |
G |
A |
8: 11,881,552 (GRCm39) |
E565K |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bpnt1 |
T |
A |
1: 185,077,504 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
C |
T |
15: 98,442,189 (GRCm39) |
V360I |
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,105,908 (GRCm39) |
S1829P |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 138,981,122 (GRCm39) |
N112I |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,174,805 (GRCm39) |
D1969E |
probably benign |
Het |
| Flywch1 |
A |
C |
17: 23,979,591 (GRCm39) |
D394E |
probably benign |
Het |
| Gal3st4 |
T |
A |
5: 138,263,733 (GRCm39) |
|
probably null |
Het |
| Gm14403 |
T |
C |
2: 177,200,492 (GRCm39) |
L146P |
probably damaging |
Het |
| Gm5283 |
G |
T |
3: 17,285,123 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
A |
1: 165,134,029 (GRCm39) |
L97Q |
probably damaging |
Het |
| Gstm2 |
A |
T |
3: 107,892,411 (GRCm39) |
M105K |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 53,880,018 (GRCm39) |
Y1264H |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,308,952 (GRCm39) |
Q348L |
possibly damaging |
Het |
| Ighv1-83 |
A |
T |
12: 115,927,489 (GRCm39) |
M87K |
possibly damaging |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,154 (GRCm39) |
S44T |
probably damaging |
Het |
| Ipo7 |
T |
A |
7: 109,650,691 (GRCm39) |
N884K |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,358,692 (GRCm39) |
N75S |
probably benign |
Het |
| Krt20 |
A |
G |
11: 99,319,811 (GRCm39) |
V431A |
unknown |
Het |
| Krt24 |
A |
T |
11: 99,174,452 (GRCm39) |
I205N |
possibly damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc31 |
A |
T |
3: 30,745,446 (GRCm39) |
L67* |
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,395,135 (GRCm39) |
F97L |
probably benign |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Mgat4d |
T |
G |
8: 84,084,787 (GRCm39) |
|
probably null |
Het |
| Mrgprb3 |
C |
T |
7: 48,293,054 (GRCm39) |
V166I |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,052,329 (GRCm39) |
Q379L |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,222,590 (GRCm39) |
S782G |
probably benign |
Het |
| Nobox |
T |
C |
6: 43,282,053 (GRCm39) |
D340G |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
| Or2t29 |
G |
A |
11: 58,433,396 (GRCm39) |
T315I |
probably benign |
Het |
| Or5b101 |
T |
A |
19: 13,005,661 (GRCm39) |
I11F |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,307,959 (GRCm39) |
I1845N |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,103,590 (GRCm39) |
Y179H |
probably benign |
Het |
| Rad21l |
T |
G |
2: 151,509,927 (GRCm39) |
H58P |
probably damaging |
Het |
| Scnn1g |
T |
C |
7: 121,345,825 (GRCm39) |
L316S |
probably damaging |
Het |
| Serpina5 |
G |
A |
12: 104,068,460 (GRCm39) |
V174I |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 43,993,135 (GRCm39) |
S788P |
unknown |
Het |
| Shisal1 |
T |
A |
15: 84,301,397 (GRCm39) |
H82L |
probably damaging |
Het |
| Snap47 |
A |
G |
11: 59,319,343 (GRCm39) |
V265A |
possibly damaging |
Het |
| Steap3 |
T |
A |
1: 120,171,616 (GRCm39) |
H163L |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,173,076 (GRCm39) |
F1729L |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 130,116,276 (GRCm39) |
V1343A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,334,130 (GRCm39) |
T486I |
probably damaging |
Het |
| Ttc41 |
G |
T |
10: 86,565,662 (GRCm39) |
M405I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,577,873 (GRCm39) |
D24340G |
probably damaging |
Het |
| Vmn1r10 |
T |
G |
6: 57,090,602 (GRCm39) |
F65V |
possibly damaging |
Het |
| Vmn2r118 |
G |
T |
17: 55,899,581 (GRCm39) |
D774E |
probably damaging |
Het |
| Vmn2r13 |
C |
T |
5: 109,304,331 (GRCm39) |
C700Y |
probably damaging |
Het |
| Wsb1 |
A |
C |
11: 79,131,217 (GRCm39) |
M393R |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,397,504 (GRCm39) |
Y214H |
probably benign |
Het |
| Zswim3 |
C |
T |
2: 164,662,099 (GRCm39) |
T193I |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGACGTGAACTGCAGCC -3'
(R):5'- TCAAAACTACAGTGTAGAAGTGGC -3'
Sequencing Primer
(F):5'- CGATTCCCCACTGCTTTAGAGAAG -3'
(R):5'- AGAAGTGGCTATGCTGTCCAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation