Incidental Mutation 'R3933:Yju2b'
| ID |
308559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yju2b
|
| Ensembl Gene |
ENSMUSG00000004994 |
| Gene Name |
YJU2 splicing factor homolog B |
| Synonyms |
4930527D15Rik, Ccdc130 |
| MMRRC Submission |
040920-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R3933 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84984424-84997009 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84986981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 172
(A172V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005120]
[ENSMUST00000098578]
[ENSMUST00000126435]
[ENSMUST00000163993]
[ENSMUST00000172320]
|
| AlphaFold |
Q9D516 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005120
AA Change: A172V
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994
AA Change: A172V
| 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 benign
Transcript: ENSMUST00000098578
AA Change: A172V
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994
AA Change: A172V
| 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: ENSMUST00000164476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163993
|
| 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 |
|
| Meta Mutation Damage Score |
0.1200 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,304,856 (GRCm39) |
F3350L |
probably damaging |
Het |
| Acp6 |
T |
C |
3: 97,073,499 (GRCm39) |
V146A |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,680,749 (GRCm39) |
I630V |
probably benign |
Het |
| Astn2 |
G |
A |
4: 66,322,192 (GRCm39) |
R136C |
unknown |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| C1rl |
T |
A |
6: 124,485,781 (GRCm39) |
L384* |
probably null |
Het |
| Ccdc6 |
TCCGCCGCCGCC |
TCCGCCGCC |
10: 70,025,000 (GRCm39) |
|
probably benign |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ercc5 |
T |
A |
1: 44,207,016 (GRCm39) |
M643K |
probably benign |
Het |
| Fut8 |
A |
C |
12: 77,522,033 (GRCm39) |
K557N |
probably damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,597,274 (GRCm39) |
Y88H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Lepr |
T |
C |
4: 101,622,498 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,566 (GRCm39) |
|
probably null |
Het |
| Mei1 |
A |
G |
15: 81,967,353 (GRCm39) |
K310E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,292,601 (GRCm39) |
V438A |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or4f17-ps1 |
T |
C |
2: 111,358,300 (GRCm39) |
Y232H |
probably damaging |
Het |
| Or5aq6 |
T |
A |
2: 86,923,106 (GRCm39) |
I212F |
probably benign |
Het |
| Parp2 |
G |
A |
14: 51,056,844 (GRCm39) |
V323M |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,979,314 (GRCm39) |
S161P |
probably benign |
Het |
| Pold3 |
T |
C |
7: 99,770,608 (GRCm39) |
E8G |
probably damaging |
Het |
| Pomt1 |
G |
A |
2: 32,135,631 (GRCm39) |
V332I |
probably benign |
Het |
| Ppp2ca |
T |
A |
11: 52,010,089 (GRCm39) |
N232K |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,101,318 (GRCm39) |
D2274V |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,835,950 (GRCm39) |
V464I |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Scai |
A |
T |
2: 38,965,064 (GRCm39) |
D593E |
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 87,094,422 (GRCm39) |
T366A |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,608,830 (GRCm39) |
I320V |
probably benign |
Het |
| Syngr2 |
C |
A |
11: 117,704,243 (GRCm39) |
P206Q |
probably damaging |
Het |
| Tatdn3 |
A |
T |
1: 190,778,521 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,201,260 (GRCm39) |
A415T |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,435 (GRCm39) |
M258V |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,576,872 (GRCm39) |
R561C |
probably damaging |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGCTGTACATAGGGAGC -3'
(R):5'- CTATGTCATCGTGAGTGGTGCC -3'
Sequencing Primer
(F):5'- TGCTGTACATAGGGAGCATGAAGC -3'
(R):5'- AGGTGCTGACCACAGGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation