Incidental Mutation 'IGL02810:Yju2b'
ID |
360560 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Yju2b
|
Ensembl Gene |
ENSMUSG00000004994 |
Gene Name |
YJU2 splicing factor homolog B |
Synonyms |
4930527D15Rik, Ccdc130 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
IGL02810
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
84984424-84997009 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 84990997 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128605
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005120]
[ENSMUST00000098578]
[ENSMUST00000163993]
[ENSMUST00000172320]
|
AlphaFold |
Q9D516 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005120
|
SMART Domains |
Protein: ENSMUSP00000005120 Gene: ENSMUSG00000004994
Domain | Start | End | E-Value | Type |
Pfam:DUF572
|
1 |
198 |
1.7e-85 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098578
|
SMART Domains |
Protein: ENSMUSP00000096177 Gene: ENSMUSG00000004994
Domain | Start | End | E-Value | Type |
Pfam:DUF572
|
1 |
384 |
1.4e-101 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164476
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166728
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172320
|
SMART Domains |
Protein: ENSMUSP00000128605 Gene: ENSMUSG00000004994
Domain | Start | End | E-Value | Type |
Pfam:DUF572
|
1 |
68 |
1.4e-31 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,249,401 (GRCm39) |
K1491E |
probably damaging |
Het |
Abi3bp |
T |
C |
16: 56,498,138 (GRCm39) |
S696P |
probably damaging |
Het |
Ago1 |
A |
G |
4: 126,336,886 (GRCm39) |
V273A |
probably benign |
Het |
Atosb |
C |
A |
4: 43,034,429 (GRCm39) |
V389F |
probably damaging |
Het |
Bbs2 |
A |
G |
8: 94,813,539 (GRCm39) |
Y213H |
probably benign |
Het |
Car10 |
T |
A |
11: 93,469,522 (GRCm39) |
Y142N |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,799,016 (GRCm39) |
K415E |
possibly damaging |
Het |
Exoc3l |
A |
T |
8: 106,021,980 (GRCm39) |
I41N |
probably damaging |
Het |
Fat3 |
T |
C |
9: 16,288,146 (GRCm39) |
D459G |
probably damaging |
Het |
Gabbr1 |
T |
C |
17: 37,373,654 (GRCm39) |
F401L |
probably damaging |
Het |
Galnt10 |
G |
A |
11: 57,616,412 (GRCm39) |
R109Q |
probably damaging |
Het |
Gpr108 |
C |
T |
17: 57,549,742 (GRCm39) |
D265N |
probably benign |
Het |
Helb |
T |
C |
10: 119,927,608 (GRCm39) |
N834S |
possibly damaging |
Het |
Igkv8-30 |
A |
G |
6: 70,094,342 (GRCm39) |
V23A |
probably benign |
Het |
Iqck |
A |
T |
7: 118,570,662 (GRCm39) |
K271N |
possibly damaging |
Het |
Klhl17 |
T |
C |
4: 156,318,514 (GRCm39) |
E36G |
possibly damaging |
Het |
Klrb1b |
A |
G |
6: 128,795,430 (GRCm39) |
|
probably null |
Het |
Mybl1 |
G |
A |
1: 9,743,340 (GRCm39) |
P571S |
probably damaging |
Het |
Mybl1 |
T |
C |
1: 9,748,613 (GRCm39) |
T328A |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,652,135 (GRCm39) |
D873E |
probably damaging |
Het |
Nms |
T |
C |
1: 38,987,725 (GRCm39) |
Y147H |
possibly damaging |
Het |
Nrde2 |
A |
T |
12: 100,110,017 (GRCm39) |
M338K |
possibly damaging |
Het |
Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
Oxr1 |
G |
A |
15: 41,676,979 (GRCm39) |
V91I |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,613,942 (GRCm39) |
C503Y |
probably benign |
Het |
Polr2m |
A |
T |
9: 71,390,848 (GRCm39) |
I14K |
probably benign |
Het |
Ppara |
T |
C |
15: 85,661,878 (GRCm39) |
S40P |
probably damaging |
Het |
Shisa6 |
T |
A |
11: 66,115,774 (GRCm39) |
T288S |
possibly damaging |
Het |
Slc26a5 |
T |
C |
5: 22,018,381 (GRCm39) |
|
probably benign |
Het |
Spag1 |
A |
G |
15: 36,234,693 (GRCm39) |
N818D |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,120,835 (GRCm39) |
|
probably null |
Het |
Tctn1 |
C |
T |
5: 122,380,664 (GRCm39) |
|
probably null |
Het |
Triobp |
A |
G |
15: 78,886,403 (GRCm39) |
N507S |
possibly damaging |
Het |
Tut7 |
A |
G |
13: 59,929,830 (GRCm39) |
|
probably null |
Het |
Ugt2b34 |
C |
A |
5: 87,054,383 (GRCm39) |
V133L |
probably benign |
Het |
|
Other mutations in Yju2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01862:Yju2b
|
APN |
8 |
84,987,163 (GRCm39) |
splice site |
probably benign |
|
IGL02536:Yju2b
|
APN |
8 |
84,987,245 (GRCm39) |
nonsense |
probably null |
|
R0350:Yju2b
|
UTSW |
8 |
84,987,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R0567:Yju2b
|
UTSW |
8 |
84,987,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R1807:Yju2b
|
UTSW |
8 |
84,986,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R2209:Yju2b
|
UTSW |
8 |
84,990,498 (GRCm39) |
missense |
probably benign |
0.00 |
R3933:Yju2b
|
UTSW |
8 |
84,986,981 (GRCm39) |
missense |
probably benign |
0.08 |
R3949:Yju2b
|
UTSW |
8 |
84,985,453 (GRCm39) |
missense |
probably benign |
0.03 |
R4633:Yju2b
|
UTSW |
8 |
84,987,024 (GRCm39) |
missense |
probably benign |
0.06 |
R4715:Yju2b
|
UTSW |
8 |
84,990,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R4722:Yju2b
|
UTSW |
8 |
84,985,439 (GRCm39) |
missense |
probably benign |
0.00 |
R5001:Yju2b
|
UTSW |
8 |
84,985,304 (GRCm39) |
missense |
probably benign |
0.10 |
R5631:Yju2b
|
UTSW |
8 |
84,990,510 (GRCm39) |
missense |
probably damaging |
0.99 |
R5874:Yju2b
|
UTSW |
8 |
84,985,177 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6434:Yju2b
|
UTSW |
8 |
84,989,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R6467:Yju2b
|
UTSW |
8 |
84,985,318 (GRCm39) |
missense |
probably benign |
|
R7259:Yju2b
|
UTSW |
8 |
84,986,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R7822:Yju2b
|
UTSW |
8 |
84,988,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R8549:Yju2b
|
UTSW |
8 |
84,985,399 (GRCm39) |
missense |
probably benign |
0.05 |
R8766:Yju2b
|
UTSW |
8 |
84,988,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R8827:Yju2b
|
UTSW |
8 |
84,986,987 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9047:Yju2b
|
UTSW |
8 |
84,990,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R9527:Yju2b
|
UTSW |
8 |
84,989,652 (GRCm39) |
missense |
probably damaging |
0.99 |
R9595:Yju2b
|
UTSW |
8 |
84,988,400 (GRCm39) |
missense |
probably damaging |
0.98 |
R9657:Yju2b
|
UTSW |
8 |
84,987,084 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1088:Yju2b
|
UTSW |
8 |
84,985,538 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-12-18 |