Incidental Mutation 'IGL01563:Gm5901'
ID |
90895 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm5901
|
Ensembl Gene |
ENSMUSG00000078611 |
Gene Name |
predicted gene 5901 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
IGL01563
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
105024245-105027584 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 105026722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 163
(Y163*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048079]
[ENSMUST00000074686]
[ENSMUST00000106805]
[ENSMUST00000118726]
[ENSMUST00000122327]
[ENSMUST00000137158]
[ENSMUST00000209233]
[ENSMUST00000211549]
[ENSMUST00000210448]
[ENSMUST00000179474]
|
AlphaFold |
D3YVJ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048079
|
SMART Domains |
Protein: ENSMUSP00000045084 Gene: ENSMUSG00000044465
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
2.8e-99 |
PFAM |
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074686
|
SMART Domains |
Protein: ENSMUSP00000074252 Gene: ENSMUSG00000044465
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
4.4e-100 |
PFAM |
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
low complexity region
|
825 |
840 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106805
AA Change: Y163*
|
SMART Domains |
Protein: ENSMUSP00000102417 Gene: ENSMUSG00000078611 AA Change: Y163*
Domain | Start | End | E-Value | Type |
Pfam:DUF4663
|
1 |
332 |
1.8e-145 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118726
|
SMART Domains |
Protein: ENSMUSP00000112605 Gene: ENSMUSG00000044465
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
1.8e-99 |
PFAM |
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
low complexity region
|
707 |
722 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122327
|
SMART Domains |
Protein: ENSMUSP00000112711 Gene: ENSMUSG00000044465
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
5.6e-98 |
PFAM |
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137158
|
SMART Domains |
Protein: ENSMUSP00000119184 Gene: ENSMUSG00000044465
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
259 |
7.2e-42 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209233
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211549
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211523
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210448
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179474
|
SMART Domains |
Protein: ENSMUSP00000137163 Gene: ENSMUSG00000044465
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
4.2e-98 |
PFAM |
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
low complexity region
|
711 |
724 |
N/A |
INTRINSIC |
low complexity region
|
732 |
744 |
N/A |
INTRINSIC |
low complexity region
|
905 |
920 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
G |
6: 85,604,965 (GRCm39) |
E2205G |
probably damaging |
Het |
Arid2 |
G |
A |
15: 96,270,278 (GRCm39) |
V1464I |
probably damaging |
Het |
Axin2 |
A |
G |
11: 108,814,631 (GRCm39) |
Q173R |
probably damaging |
Het |
Best1 |
A |
G |
19: 9,964,099 (GRCm39) |
F454L |
probably benign |
Het |
CK137956 |
T |
G |
4: 127,864,428 (GRCm39) |
K67T |
possibly damaging |
Het |
Col14a1 |
G |
A |
15: 55,351,337 (GRCm39) |
G1555R |
unknown |
Het |
Csad |
G |
A |
15: 102,095,598 (GRCm39) |
S153F |
probably damaging |
Het |
Cyp4f40 |
A |
T |
17: 32,892,930 (GRCm39) |
D315V |
probably damaging |
Het |
Galnt3 |
G |
A |
2: 65,928,101 (GRCm39) |
A265V |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,356,074 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
G |
18: 10,469,399 (GRCm39) |
D138G |
probably damaging |
Het |
Has1 |
A |
T |
17: 18,063,924 (GRCm39) |
|
probably benign |
Het |
Ighv1-42 |
A |
G |
12: 114,900,804 (GRCm39) |
S94P |
probably damaging |
Het |
Katnb1 |
T |
A |
8: 95,824,787 (GRCm39) |
L569Q |
probably damaging |
Het |
Nedd1 |
C |
T |
10: 92,534,031 (GRCm39) |
|
probably null |
Het |
Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,997 (GRCm39) |
I214N |
probably damaging |
Het |
Pdcd4 |
G |
A |
19: 53,917,552 (GRCm39) |
R463H |
probably benign |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Ro60 |
A |
G |
1: 143,637,120 (GRCm39) |
V364A |
probably benign |
Het |
Rps19bp1 |
A |
G |
15: 80,145,532 (GRCm39) |
M84T |
probably benign |
Het |
Sass6 |
A |
T |
3: 116,398,847 (GRCm39) |
D43V |
probably damaging |
Het |
Senp6 |
G |
A |
9: 80,029,290 (GRCm39) |
S551N |
probably benign |
Het |
Sh2d2a |
A |
G |
3: 87,759,432 (GRCm39) |
E273G |
probably damaging |
Het |
Slc16a14 |
T |
C |
1: 84,889,908 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
C |
T |
11: 60,674,671 (GRCm39) |
R816C |
possibly damaging |
Het |
Trappc8 |
A |
T |
18: 20,970,103 (GRCm39) |
N962K |
probably benign |
Het |
Trpc6 |
A |
G |
9: 8,656,604 (GRCm39) |
E677G |
probably damaging |
Het |
Ubap2 |
G |
T |
4: 41,195,998 (GRCm39) |
P961T |
probably damaging |
Het |
Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
Vps41 |
T |
C |
13: 18,966,897 (GRCm39) |
|
probably benign |
Het |
Vwf |
A |
T |
6: 125,568,128 (GRCm39) |
D341V |
probably damaging |
Het |
Zfp618 |
C |
T |
4: 62,998,133 (GRCm39) |
P45L |
probably benign |
Het |
|
Other mutations in Gm5901 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01668:Gm5901
|
APN |
7 |
105,026,771 (GRCm39) |
missense |
probably benign |
0.00 |
P0033:Gm5901
|
UTSW |
7 |
105,026,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R0316:Gm5901
|
UTSW |
7 |
105,026,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R0667:Gm5901
|
UTSW |
7 |
105,026,697 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2393:Gm5901
|
UTSW |
7 |
105,026,996 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2987:Gm5901
|
UTSW |
7 |
105,026,507 (GRCm39) |
missense |
probably benign |
|
R4665:Gm5901
|
UTSW |
7 |
105,026,438 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5103:Gm5901
|
UTSW |
7 |
105,026,589 (GRCm39) |
splice site |
probably null |
|
R5274:Gm5901
|
UTSW |
7 |
105,026,655 (GRCm39) |
missense |
probably damaging |
0.99 |
R5613:Gm5901
|
UTSW |
7 |
105,026,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R6977:Gm5901
|
UTSW |
7 |
105,026,367 (GRCm39) |
missense |
probably benign |
|
R7090:Gm5901
|
UTSW |
7 |
105,026,555 (GRCm39) |
missense |
probably benign |
|
R7128:Gm5901
|
UTSW |
7 |
105,027,408 (GRCm39) |
missense |
probably damaging |
0.98 |
R8280:Gm5901
|
UTSW |
7 |
105,027,105 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-12-09 |