Incidental Mutation 'IGL02536:Yju2b'
| ID |
297509 |
| 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: 0.955)
|
| Stock # |
IGL02536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84984424-84997009 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 84987245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 109
(Y109*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005120]
[ENSMUST00000098578]
[ENSMUST00000126435]
[ENSMUST00000172320]
[ENSMUST00000163993]
|
| AlphaFold |
Q9D516 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005120
AA Change: Y109*
|
| SMART Domains |
Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994
AA Change: Y109*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF572
|
1 |
198 |
1.7e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005122
|
| SMART Domains |
Protein: ENSMUSP00000005122
Gene: ENSMUSG00000004996
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
40 |
152 |
9.8e-14 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098578
AA Change: Y109*
|
| SMART Domains |
Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994
AA Change: Y109*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF572
|
1 |
384 |
1.4e-101 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125498
|
| SMART Domains |
Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
2 |
226 |
5.9e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126435
|
| SMART Domains |
Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
44 |
346 |
4.8e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164476
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163993
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,685,665 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8b |
C |
T |
11: 109,872,574 (GRCm39) |
R9H |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,873,368 (GRCm39) |
S858T |
probably benign |
Het |
| Alg1 |
C |
T |
16: 5,057,023 (GRCm39) |
Q245* |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,813,910 (GRCm39) |
Y423C |
probably damaging |
Het |
| Anp32a |
A |
T |
9: 62,279,110 (GRCm39) |
T55S |
probably damaging |
Het |
| Arhgef9 |
A |
C |
X: 94,102,443 (GRCm39) |
V406G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,259 (GRCm39) |
F275S |
possibly damaging |
Het |
| Card9 |
C |
T |
2: 26,248,844 (GRCm39) |
V102I |
possibly damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,526,788 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
A |
3: 100,910,913 (GRCm39) |
D915V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,754 (GRCm39) |
D77G |
possibly damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,435,540 (GRCm39) |
T827A |
probably benign |
Het |
| Dspp |
A |
C |
5: 104,323,531 (GRCm39) |
T225P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,112,035 (GRCm39) |
E1885G |
probably damaging |
Het |
| Fstl4 |
C |
T |
11: 53,024,851 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
T |
A |
14: 44,575,015 (GRCm39) |
N57I |
probably damaging |
Het |
| Gnl2 |
C |
T |
4: 124,946,401 (GRCm39) |
Q541* |
probably null |
Het |
| Igkv3-1 |
T |
C |
6: 70,681,035 (GRCm39) |
V78A |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,147,338 (GRCm39) |
I321T |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,951,959 (GRCm39) |
S1746T |
probably benign |
Het |
| Lrrc8c |
T |
C |
5: 105,755,038 (GRCm39) |
I271T |
probably benign |
Het |
| Mrps10 |
T |
C |
17: 47,685,928 (GRCm39) |
Y152H |
probably damaging |
Het |
| Myl9 |
C |
T |
2: 156,620,469 (GRCm39) |
S2L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,938,103 (GRCm39) |
H870Q |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,067,367 (GRCm39) |
I456F |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,009,723 (GRCm39) |
H550R |
probably benign |
Het |
| Or13f5 |
T |
A |
4: 52,825,817 (GRCm39) |
V140D |
possibly damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
| Or51v8 |
T |
A |
7: 103,320,164 (GRCm39) |
I25F |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,460 (GRCm39) |
L144P |
probably damaging |
Het |
| P2rx1 |
A |
T |
11: 72,903,300 (GRCm39) |
I230F |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,216,063 (GRCm39) |
V2275A |
possibly damaging |
Het |
| Pip5k1a |
G |
A |
3: 94,971,707 (GRCm39) |
T465I |
probably benign |
Het |
| Pnkd |
G |
A |
1: 74,391,059 (GRCm39) |
R415H |
probably damaging |
Het |
| Prdx4 |
T |
A |
X: 154,115,443 (GRCm39) |
I132F |
probably damaging |
Het |
| Pvr |
A |
G |
7: 19,652,717 (GRCm39) |
M66T |
probably benign |
Het |
| Rnf216 |
A |
G |
5: 143,065,995 (GRCm39) |
I531T |
probably benign |
Het |
| Rps6ka4 |
A |
T |
19: 6,809,439 (GRCm39) |
F405Y |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,452,679 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,513 (GRCm39) |
K12R |
probably benign |
Het |
| Slc17a7 |
A |
G |
7: 44,820,370 (GRCm39) |
E275G |
probably damaging |
Het |
| Tnpo2 |
A |
T |
8: 85,771,696 (GRCm39) |
I245F |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,689,463 (GRCm39) |
|
probably null |
Het |
| Zcchc4 |
C |
T |
5: 52,965,658 (GRCm39) |
R321W |
probably damaging |
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 |
|
|
IGL02810:Yju2b
|
APN |
8 |
84,990,997 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation