Incidental Mutation 'R6518:4921539E11Rik'
| ID |
520857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4921539E11Rik
|
| Ensembl Gene |
ENSMUSG00000028520 |
| Gene Name |
RIKEN cDNA 4921539E11 gene |
| Synonyms |
|
| MMRRC Submission |
044645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
103087642-103148060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103123608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 88
(D88G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030245]
[ENSMUST00000097944]
[ENSMUST00000168664]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030245
AA Change: D88G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: D88G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4545
|
1 |
443 |
6.1e-206 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097944
AA Change: D88G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: D88G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4545
|
1 |
270 |
7.3e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168664
|
| SMART Domains |
Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4545
|
1 |
342 |
4.4e-183 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,235,718 (GRCm39) |
|
|
Het |
| Angptl6 |
T |
C |
9: 20,786,656 (GRCm39) |
H330R |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,649,397 (GRCm39) |
V462E |
probably damaging |
Het |
| Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,498,534 (GRCm39) |
|
probably null |
Het |
| C2 |
T |
A |
17: 35,083,094 (GRCm39) |
I426F |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,953,179 (GRCm39) |
Y1049N |
probably damaging |
Het |
| Cdkn1b |
T |
A |
6: 134,898,283 (GRCm39) |
M134K |
probably benign |
Het |
| Cenpn |
A |
G |
8: 117,663,904 (GRCm39) |
D145G |
possibly damaging |
Het |
| Ckap2 |
A |
T |
8: 22,663,319 (GRCm39) |
I492K |
probably benign |
Het |
| Cog2 |
G |
A |
8: 125,253,842 (GRCm39) |
W67* |
probably null |
Het |
| Col7a1 |
T |
C |
9: 108,784,595 (GRCm39) |
F172L |
unknown |
Het |
| Dcaf1 |
T |
C |
9: 106,712,788 (GRCm39) |
I112T |
probably damaging |
Het |
| Ddx4 |
T |
C |
13: 112,741,081 (GRCm39) |
I518V |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,835,419 (GRCm39) |
L908P |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,479 (GRCm39) |
Y563H |
probably benign |
Het |
| Gm16686 |
A |
C |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
| Gpr139 |
A |
T |
7: 118,743,734 (GRCm39) |
F284I |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,754,428 (GRCm39) |
F553I |
possibly damaging |
Het |
| Igkv6-29 |
T |
A |
6: 70,115,497 (GRCm39) |
Q99L |
probably damaging |
Het |
| Lipt1 |
A |
G |
1: 37,914,856 (GRCm39) |
N304S |
probably benign |
Het |
| Lmo1 |
A |
C |
7: 108,742,783 (GRCm39) |
L39R |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,794,878 (GRCm39) |
|
probably benign |
Het |
| Mindy3 |
T |
C |
2: 12,386,940 (GRCm39) |
T74A |
probably damaging |
Het |
| Obi1 |
A |
T |
14: 104,716,501 (GRCm39) |
L624H |
probably damaging |
Het |
| Or11a4 |
G |
T |
17: 37,536,159 (GRCm39) |
A48S |
probably benign |
Het |
| Or13j1 |
A |
G |
4: 43,706,334 (GRCm39) |
V78A |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,728,077 (GRCm39) |
I115V |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,116 (GRCm39) |
Y153H |
probably benign |
Het |
| Pdzrn3 |
A |
T |
6: 101,127,475 (GRCm39) |
*1064K |
probably null |
Het |
| Pias1 |
A |
G |
9: 62,859,142 (GRCm39) |
L113P |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,239,342 (GRCm39) |
I514N |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,472,278 (GRCm39) |
T212A |
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,900,691 (GRCm39) |
Y151C |
probably damaging |
Het |
| Samhd1 |
G |
A |
2: 156,956,217 (GRCm39) |
T325M |
possibly damaging |
Het |
| Seh1l |
A |
G |
18: 67,922,519 (GRCm39) |
T291A |
probably damaging |
Het |
| Smim24 |
A |
G |
10: 81,229,695 (GRCm39) |
M1V |
probably null |
Het |
| Sp140 |
TTTTTTTTTTTT |
TTTTTTTTTTTTTTTTT |
1: 85,572,291 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
A |
G |
4: 42,791,750 (GRCm39) |
I794T |
probably benign |
Het |
| Speer3 |
T |
G |
5: 13,845,462 (GRCm39) |
I165S |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,923,594 (GRCm39) |
|
probably null |
Het |
| Tmem17 |
A |
T |
11: 22,467,427 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Tmem86b |
A |
T |
7: 4,632,608 (GRCm39) |
C85* |
probably null |
Het |
| Try5 |
A |
G |
6: 41,291,613 (GRCm39) |
F6S |
probably benign |
Het |
| Vmn2r71 |
G |
T |
7: 85,270,436 (GRCm39) |
C534F |
probably damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,265,281 (GRCm39) |
D67E |
probably benign |
Het |
| Wars2 |
A |
T |
3: 99,124,116 (GRCm39) |
M326L |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,821 (GRCm39) |
S108R |
unknown |
Het |
| Zfp677 |
A |
G |
17: 21,618,392 (GRCm39) |
H483R |
probably damaging |
Het |
|
| Other mutations in 4921539E11Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:4921539E11Rik
|
APN |
4 |
103,092,983 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00864:4921539E11Rik
|
APN |
4 |
103,092,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:4921539E11Rik
|
APN |
4 |
103,092,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:4921539E11Rik
|
APN |
4 |
103,127,943 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02606:4921539E11Rik
|
APN |
4 |
103,099,978 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03210:4921539E11Rik
|
APN |
4 |
103,141,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB004:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
|
BB014:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0441:4921539E11Rik
|
UTSW |
4 |
103,092,689 (GRCm39) |
intron |
probably benign |
|
|
R0455:4921539E11Rik
|
UTSW |
4 |
103,088,180 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0504:4921539E11Rik
|
UTSW |
4 |
103,128,057 (GRCm39) |
splice site |
probably benign |
|
|
R0636:4921539E11Rik
|
UTSW |
4 |
103,088,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0766:4921539E11Rik
|
UTSW |
4 |
103,127,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0799:4921539E11Rik
|
UTSW |
4 |
103,100,101 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1312:4921539E11Rik
|
UTSW |
4 |
103,127,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1713:4921539E11Rik
|
UTSW |
4 |
103,127,964 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1783:4921539E11Rik
|
UTSW |
4 |
103,088,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1978:4921539E11Rik
|
UTSW |
4 |
103,127,961 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3735:4921539E11Rik
|
UTSW |
4 |
103,123,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4821:4921539E11Rik
|
UTSW |
4 |
103,092,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5274:4921539E11Rik
|
UTSW |
4 |
103,092,856 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5275:4921539E11Rik
|
UTSW |
4 |
103,092,856 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5431:4921539E11Rik
|
UTSW |
4 |
103,128,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5449:4921539E11Rik
|
UTSW |
4 |
103,123,579 (GRCm39) |
missense |
probably benign |
|
|
R6049:4921539E11Rik
|
UTSW |
4 |
103,088,520 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6277:4921539E11Rik
|
UTSW |
4 |
103,088,668 (GRCm39) |
nonsense |
probably null |
|
|
R6602:4921539E11Rik
|
UTSW |
4 |
103,112,769 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6634:4921539E11Rik
|
UTSW |
4 |
103,094,127 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6992:4921539E11Rik
|
UTSW |
4 |
103,099,990 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7575:4921539E11Rik
|
UTSW |
4 |
103,088,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7927:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8130:4921539E11Rik
|
UTSW |
4 |
103,092,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8461:4921539E11Rik
|
UTSW |
4 |
103,112,712 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8714:4921539E11Rik
|
UTSW |
4 |
103,100,093 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8798:4921539E11Rik
|
UTSW |
4 |
103,123,574 (GRCm39) |
start gained |
probably benign |
|
|
R9458:4921539E11Rik
|
UTSW |
4 |
103,141,608 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9462:4921539E11Rik
|
UTSW |
4 |
103,092,964 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9598:4921539E11Rik
|
UTSW |
4 |
103,088,604 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9643:4921539E11Rik
|
UTSW |
4 |
103,092,666 (GRCm39) |
missense |
unknown |
|
|
R9709:4921539E11Rik
|
UTSW |
4 |
103,092,678 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTAAGATACCAGAAGGAGGG -3'
(R):5'- TTCCTACCCTGGCAGTACTACC -3'
Sequencing Primer
(F):5'- CACAGAGCATTACCCATTA -3'
(R):5'- AGCAACACTTCAGGCTTCTTCTCTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation