Incidental Mutation 'IGL02904:4833420G17Rik'
ID |
363719 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
4833420G17Rik
|
Ensembl Gene |
ENSMUSG00000062822 |
Gene Name |
RIKEN cDNA 4833420G17 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02904
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
119599304-119622656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119620990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 564
(S564P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026519]
[ENSMUST00000099147]
[ENSMUST00000099148]
[ENSMUST00000176171]
[ENSMUST00000223912]
[ENSMUST00000224312]
[ENSMUST00000225726]
[ENSMUST00000225186]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026519
AA Change: S564P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026519 Gene: ENSMUSG00000062822 AA Change: S564P
Domain | Start | End | E-Value | Type |
Pfam:DUF4524
|
9 |
154 |
5e-61 |
PFAM |
Pfam:DUF4520
|
451 |
542 |
8.6e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099147
|
SMART Domains |
Protein: ENSMUSP00000096751 Gene: ENSMUSG00000074634
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
transmembrane domain
|
136 |
158 |
N/A |
INTRINSIC |
transmembrane domain
|
202 |
224 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099148
|
SMART Domains |
Protein: ENSMUSP00000096752 Gene: ENSMUSG00000074635
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
80 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176171
|
SMART Domains |
Protein: ENSMUSP00000135685 Gene: ENSMUSG00000074634
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
transmembrane domain
|
136 |
158 |
N/A |
INTRINSIC |
transmembrane domain
|
202 |
224 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177361
|
SMART Domains |
Protein: ENSMUSP00000134785 Gene: ENSMUSG00000074634
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223912
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224312
AA Change: S564P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225726
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225186
AA Change: S564P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
A |
C |
19: 31,912,206 (GRCm39) |
K432N |
probably damaging |
Het |
Acp7 |
A |
T |
7: 28,307,428 (GRCm39) |
D476E |
probably benign |
Het |
Aqp9 |
T |
A |
9: 71,045,430 (GRCm39) |
I60F |
probably damaging |
Het |
B2m |
A |
C |
2: 121,981,642 (GRCm39) |
|
probably benign |
Het |
B3galt1 |
T |
A |
2: 67,949,089 (GRCm39) |
V268E |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,306,149 (GRCm39) |
L1299P |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
Ces2e |
C |
T |
8: 105,657,970 (GRCm39) |
P356L |
probably benign |
Het |
Crmp1 |
A |
T |
5: 37,446,262 (GRCm39) |
K639N |
possibly damaging |
Het |
Ddx17 |
G |
A |
15: 79,414,638 (GRCm39) |
R510* |
probably null |
Het |
Dner |
C |
T |
1: 84,512,665 (GRCm39) |
V301M |
probably damaging |
Het |
Efr3b |
T |
G |
12: 4,034,583 (GRCm39) |
I196L |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,493,719 (GRCm39) |
V3955A |
probably damaging |
Het |
Gid4 |
T |
C |
11: 60,308,561 (GRCm39) |
I27T |
probably benign |
Het |
Glis3 |
A |
G |
19: 28,335,352 (GRCm39) |
F571L |
possibly damaging |
Het |
Gm4950 |
T |
C |
18: 51,998,803 (GRCm39) |
I51V |
probably benign |
Het |
Gm5592 |
T |
C |
7: 40,937,810 (GRCm39) |
L364P |
probably damaging |
Het |
Gucy2d |
G |
A |
7: 98,111,396 (GRCm39) |
|
probably null |
Het |
Kpna6 |
A |
G |
4: 129,544,480 (GRCm39) |
I411T |
probably benign |
Het |
Lcn11 |
A |
G |
2: 25,669,278 (GRCm39) |
D145G |
probably null |
Het |
Lrrc37 |
A |
C |
11: 103,507,187 (GRCm39) |
|
probably benign |
Het |
Med12 |
A |
G |
X: 100,337,784 (GRCm39) |
|
probably null |
Het |
Mtor |
A |
G |
4: 148,536,851 (GRCm39) |
K42E |
possibly damaging |
Het |
Mtor |
A |
G |
4: 148,576,069 (GRCm39) |
|
probably benign |
Het |
Mybpc2 |
T |
C |
7: 44,171,765 (GRCm39) |
D55G |
probably benign |
Het |
Myo1f |
T |
A |
17: 33,804,632 (GRCm39) |
C445* |
probably null |
Het |
Naca |
C |
T |
10: 127,879,159 (GRCm39) |
|
probably benign |
Het |
Nlgn2 |
T |
C |
11: 69,716,666 (GRCm39) |
Y625C |
possibly damaging |
Het |
Nlrp9c |
A |
T |
7: 26,074,715 (GRCm39) |
C827S |
probably damaging |
Het |
Nudt12 |
T |
A |
17: 59,317,347 (GRCm39) |
N100I |
probably benign |
Het |
Or2t43 |
T |
A |
11: 58,457,623 (GRCm39) |
T183S |
possibly damaging |
Het |
Or5g9 |
T |
C |
2: 85,552,099 (GRCm39) |
S117P |
probably damaging |
Het |
Or7d10 |
A |
T |
9: 19,832,393 (GRCm39) |
D296V |
probably damaging |
Het |
Or8s5 |
A |
T |
15: 98,238,729 (GRCm39) |
L31Q |
probably null |
Het |
Picalm |
G |
A |
7: 89,825,619 (GRCm39) |
|
probably benign |
Het |
Pkd1l1 |
A |
G |
11: 8,818,450 (GRCm39) |
|
probably benign |
Het |
Scube3 |
T |
C |
17: 28,386,574 (GRCm39) |
V831A |
probably benign |
Het |
Slco5a1 |
A |
G |
1: 12,991,321 (GRCm39) |
I456T |
probably damaging |
Het |
Snx3 |
A |
G |
10: 42,410,690 (GRCm39) |
H110R |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,679,432 (GRCm39) |
D635G |
probably damaging |
Het |
St3gal5 |
A |
T |
6: 72,124,108 (GRCm39) |
I212L |
possibly damaging |
Het |
Syvn1 |
T |
A |
19: 6,099,845 (GRCm39) |
Y192* |
probably null |
Het |
Tmtc1 |
A |
G |
6: 148,150,980 (GRCm39) |
|
probably benign |
Het |
Trappc14 |
C |
T |
5: 138,258,864 (GRCm39) |
V232I |
probably benign |
Het |
Trip11 |
T |
G |
12: 101,853,097 (GRCm39) |
E499D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,562,375 (GRCm39) |
N28823K |
probably damaging |
Het |
Unc13c |
C |
A |
9: 73,388,349 (GRCm39) |
G2146* |
probably null |
Het |
Ush2a |
G |
T |
1: 188,638,703 (GRCm39) |
V4038L |
probably benign |
Het |
Zc3h7a |
T |
G |
16: 10,968,530 (GRCm39) |
D483A |
probably damaging |
Het |
Zfyve19 |
T |
C |
2: 119,040,953 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 4833420G17Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01531:4833420G17Rik
|
APN |
13 |
119,603,494 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01555:4833420G17Rik
|
APN |
13 |
119,610,443 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02395:4833420G17Rik
|
APN |
13 |
119,617,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02725:4833420G17Rik
|
APN |
13 |
119,611,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03126:4833420G17Rik
|
APN |
13 |
119,617,563 (GRCm39) |
missense |
probably benign |
0.23 |
R0410:4833420G17Rik
|
UTSW |
13 |
119,606,268 (GRCm39) |
missense |
probably benign |
|
R0437:4833420G17Rik
|
UTSW |
13 |
119,606,631 (GRCm39) |
missense |
probably benign |
0.35 |
R0513:4833420G17Rik
|
UTSW |
13 |
119,606,195 (GRCm39) |
missense |
probably benign |
0.13 |
R0569:4833420G17Rik
|
UTSW |
13 |
119,621,016 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0788:4833420G17Rik
|
UTSW |
13 |
119,610,468 (GRCm39) |
nonsense |
probably null |
|
R1495:4833420G17Rik
|
UTSW |
13 |
119,614,356 (GRCm39) |
missense |
probably benign |
0.17 |
R1617:4833420G17Rik
|
UTSW |
13 |
119,603,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R1905:4833420G17Rik
|
UTSW |
13 |
119,606,216 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1914:4833420G17Rik
|
UTSW |
13 |
119,622,386 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2169:4833420G17Rik
|
UTSW |
13 |
119,622,349 (GRCm39) |
missense |
probably benign |
0.09 |
R4238:4833420G17Rik
|
UTSW |
13 |
119,603,478 (GRCm39) |
missense |
probably benign |
0.00 |
R4240:4833420G17Rik
|
UTSW |
13 |
119,603,478 (GRCm39) |
missense |
probably benign |
0.00 |
R4295:4833420G17Rik
|
UTSW |
13 |
119,606,249 (GRCm39) |
missense |
probably benign |
0.02 |
R4469:4833420G17Rik
|
UTSW |
13 |
119,606,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R4643:4833420G17Rik
|
UTSW |
13 |
119,611,396 (GRCm39) |
missense |
probably damaging |
0.97 |
R4964:4833420G17Rik
|
UTSW |
13 |
119,610,757 (GRCm39) |
intron |
probably benign |
|
R4966:4833420G17Rik
|
UTSW |
13 |
119,610,757 (GRCm39) |
intron |
probably benign |
|
R5093:4833420G17Rik
|
UTSW |
13 |
119,610,573 (GRCm39) |
utr 3 prime |
probably benign |
|
R5384:4833420G17Rik
|
UTSW |
13 |
119,606,496 (GRCm39) |
missense |
probably benign |
0.01 |
R6255:4833420G17Rik
|
UTSW |
13 |
119,602,659 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6491:4833420G17Rik
|
UTSW |
13 |
119,612,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R6564:4833420G17Rik
|
UTSW |
13 |
119,622,613 (GRCm39) |
splice site |
probably null |
|
R7023:4833420G17Rik
|
UTSW |
13 |
119,610,443 (GRCm39) |
missense |
probably benign |
0.10 |
R7574:4833420G17Rik
|
UTSW |
13 |
119,606,478 (GRCm39) |
missense |
probably damaging |
0.99 |
R9218:4833420G17Rik
|
UTSW |
13 |
119,610,460 (GRCm39) |
missense |
probably damaging |
0.96 |
R9508:4833420G17Rik
|
UTSW |
13 |
119,617,484 (GRCm39) |
missense |
|
|
R9521:4833420G17Rik
|
UTSW |
13 |
119,608,778 (GRCm39) |
critical splice donor site |
probably null |
|
R9567:4833420G17Rik
|
UTSW |
13 |
119,602,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R9759:4833420G17Rik
|
UTSW |
13 |
119,615,989 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:4833420G17Rik
|
UTSW |
13 |
119,614,344 (GRCm39) |
missense |
not run |
|
Z1177:4833420G17Rik
|
UTSW |
13 |
119,614,344 (GRCm39) |
missense |
not run |
|
|
Posted On |
2015-12-18 |