Incidental Mutation 'IGL03210:4921539E11Rik'
| ID |
413255 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4921539E11Rik
|
| Ensembl Gene |
ENSMUSG00000028520 |
| Gene Name |
RIKEN cDNA 4921539E11 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL03210
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
103087642-103148060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103141635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 9
(F9L)
|
| 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 benign
Transcript: ENSMUST00000030245
AA Change: F9L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: F9L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4545
|
1 |
443 |
6.1e-206 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097944
AA Change: F9L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: F9L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
T |
C |
3: 105,815,176 (GRCm39) |
S163P |
probably benign |
Het |
| Ark2c |
C |
A |
18: 77,554,435 (GRCm39) |
V60L |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,522,846 (GRCm39) |
Q1013* |
probably null |
Het |
| Cacna1b |
A |
T |
2: 24,540,584 (GRCm39) |
F1381Y |
probably benign |
Het |
| Dcdc2b |
T |
C |
4: 129,505,578 (GRCm39) |
K95R |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 31,034,639 (GRCm39) |
E4186G |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,358,668 (GRCm39) |
V374A |
possibly damaging |
Het |
| Gramd2b |
A |
G |
18: 56,607,170 (GRCm39) |
T95A |
probably benign |
Het |
| Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
| Hmgb4 |
A |
G |
4: 128,154,535 (GRCm39) |
V11A |
probably benign |
Het |
| Knl1 |
G |
A |
2: 118,901,098 (GRCm39) |
S933N |
probably benign |
Het |
| Ldlrad3 |
G |
A |
2: 101,900,271 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,390,331 (GRCm39) |
Y1698F |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,279,325 (GRCm39) |
W1078R |
possibly damaging |
Het |
| Nol4l |
G |
A |
2: 153,371,378 (GRCm39) |
P102L |
probably benign |
Het |
| Nsun3 |
A |
G |
16: 62,591,110 (GRCm39) |
F178L |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,457,462 (GRCm39) |
Y55N |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,812,833 (GRCm39) |
E175G |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,312,775 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or11g7 |
A |
T |
14: 50,691,440 (GRCm39) |
R310S |
probably benign |
Het |
| Or9g4 |
T |
C |
2: 85,504,697 (GRCm39) |
Y266C |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,247,714 (GRCm39) |
W1074R |
possibly damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,133,913 (GRCm39) |
T439A |
possibly damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,915,127 (GRCm39) |
V138L |
unknown |
Het |
| Ptprj |
C |
A |
2: 90,300,070 (GRCm39) |
V244L |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,706,607 (GRCm39) |
K697E |
probably damaging |
Het |
| Rp9 |
G |
T |
9: 22,368,724 (GRCm39) |
H78Q |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,530,641 (GRCm39) |
T140A |
probably damaging |
Het |
| Slc29a4 |
A |
T |
5: 142,700,863 (GRCm39) |
M203L |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,727,129 (GRCm39) |
L363I |
possibly damaging |
Het |
| Susd1 |
T |
G |
4: 59,333,035 (GRCm39) |
|
probably null |
Het |
| Thoc3 |
A |
T |
13: 54,614,035 (GRCm39) |
M196K |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,715,880 (GRCm39) |
T881A |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,652,973 (GRCm39) |
V17A |
probably damaging |
Het |
| Ttc41 |
T |
A |
10: 86,560,278 (GRCm39) |
|
probably null |
Het |
| Utp14b |
A |
G |
1: 78,643,268 (GRCm39) |
M389V |
probably benign |
Het |
| Utp4 |
T |
A |
8: 107,642,888 (GRCm39) |
H515Q |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,228,834 (GRCm39) |
H223R |
probably benign |
Het |
| Xpot |
A |
G |
10: 121,451,132 (GRCm39) |
|
probably benign |
Het |
| Zfp455 |
A |
T |
13: 67,355,113 (GRCm39) |
H127L |
possibly damaging |
Het |
| Zscan4e |
T |
A |
7: 11,041,459 (GRCm39) |
M166L |
probably benign |
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 |
|
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 |
|
|
R6518:4921539E11Rik
|
UTSW |
4 |
103,123,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation