Incidental Mutation 'R8530:4930407I10Rik'
| ID |
659016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930407I10Rik
|
| Ensembl Gene |
ENSMUSG00000075524 |
| Gene Name |
RIKEN cDNA 4930407I10 gene |
| Synonyms |
LOC328573 |
| MMRRC Submission |
068500-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R8530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81943352-81950739 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81949587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1161
(H1161Q)
|
| 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 damaging
Transcript: ENSMUST00000100396
AA Change: H1161Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: H1161Q
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
C |
3: 137,774,586 (GRCm39) |
E1258D |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,071 (GRCm39) |
S394G |
probably damaging |
Het |
| Akr1c12 |
A |
T |
13: 4,320,160 (GRCm39) |
F310Y |
probably benign |
Het |
| Ank |
G |
A |
15: 27,544,490 (GRCm39) |
A84T |
probably benign |
Het |
| Bcas1 |
A |
T |
2: 170,229,868 (GRCm39) |
I244K |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,339,043 (GRCm39) |
|
probably null |
Het |
| Car14 |
T |
C |
3: 95,807,670 (GRCm39) |
H79R |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,295,860 (GRCm39) |
Y735H |
probably damaging |
Het |
| Cdh11 |
G |
A |
8: 103,391,387 (GRCm39) |
P283L |
probably benign |
Het |
| Cfi |
C |
T |
3: 129,644,382 (GRCm39) |
T126I |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,957,704 (GRCm39) |
H40L |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,058,318 (GRCm39) |
D162G |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,492,511 (GRCm39) |
K1657R |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,614,859 (GRCm39) |
V521D |
probably benign |
Het |
| Eif3g |
A |
C |
9: 20,809,026 (GRCm39) |
S93A |
possibly damaging |
Het |
| Fa2h |
T |
C |
8: 112,082,788 (GRCm39) |
E143G |
probably benign |
Het |
| Foxc1 |
C |
A |
13: 31,991,771 (GRCm39) |
P194Q |
probably benign |
Het |
| Fyco1 |
A |
G |
9: 123,669,605 (GRCm39) |
|
probably null |
Het |
| Gabrb3 |
T |
C |
7: 57,461,819 (GRCm39) |
S256P |
probably damaging |
Het |
| Gcc1 |
C |
A |
6: 28,420,730 (GRCm39) |
D196Y |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,325,910 (GRCm39) |
D1461E |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hps6 |
A |
T |
19: 45,991,959 (GRCm39) |
|
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,409,474 (GRCm39) |
I81F |
probably damaging |
Het |
| Man2c1 |
G |
T |
9: 57,038,922 (GRCm39) |
D111Y |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,240,877 (GRCm39) |
I240N |
possibly damaging |
Het |
| Matn1 |
A |
T |
4: 130,677,447 (GRCm39) |
K219* |
probably null |
Het |
| Nup210 |
C |
G |
6: 91,053,627 (GRCm39) |
A297P |
possibly damaging |
Het |
| Or5d43 |
A |
T |
2: 88,105,154 (GRCm39) |
L80I |
probably damaging |
Het |
| Or6d12 |
T |
A |
6: 116,493,530 (GRCm39) |
I264K |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,059,101 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
| Phactr3 |
A |
G |
2: 177,925,819 (GRCm39) |
N360D |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Potefam3a |
T |
C |
8: 20,356,984 (GRCm38) |
N242S |
probably benign |
Het |
| Qtrt2 |
C |
A |
16: 43,689,407 (GRCm39) |
G197V |
probably damaging |
Het |
| Rabep1 |
A |
T |
11: 70,810,068 (GRCm39) |
L500F |
probably damaging |
Het |
| Rhof |
T |
A |
5: 123,257,581 (GRCm39) |
D183V |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,027,678 (GRCm39) |
V95A |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,964 (GRCm39) |
N704I |
unknown |
Het |
| Tas1r2 |
A |
T |
4: 139,389,460 (GRCm39) |
Y452F |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,617,444 (GRCm39) |
F325Y |
possibly damaging |
Het |
| Tiam2 |
G |
T |
17: 3,501,087 (GRCm39) |
V909L |
probably benign |
Het |
| Tlx1 |
A |
T |
19: 45,139,524 (GRCm39) |
Y57F |
probably benign |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,576 (GRCm39) |
W356R |
probably damaging |
Het |
| Wars1 |
G |
A |
12: 108,848,818 (GRCm39) |
A43V |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,770,852 (GRCm39) |
I694N |
possibly damaging |
Het |
| Zfp120 |
A |
G |
2: 149,959,168 (GRCm39) |
Y385H |
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 |
|
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 |
|
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'- AGTCTCAGGCATCCTCTGTC -3'
(R):5'- CTGGACTTGGGTACAAAGTTTCG -3'
Sequencing Primer
(F):5'- AGGCATCCTCTGTCTTTCCC -3'
(R):5'- AGAACTGGACGGCTTTGAGTCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation