Incidental Mutation 'R0567:Yju2b'
ID |
46217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yju2b
|
Ensembl Gene |
ENSMUSG00000004994 |
Gene Name |
YJU2 splicing factor homolog B |
Synonyms |
4930527D15Rik, Ccdc130 |
MMRRC Submission |
038758-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
R0567 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
84984424-84997009 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84987294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 93
(L93P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005120]
[ENSMUST00000098578]
[ENSMUST00000126435]
[ENSMUST00000163993]
[ENSMUST00000172320]
|
AlphaFold |
Q9D516 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005120
AA Change: L93P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005120 Gene: ENSMUSG00000004994 AA Change: L93P
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 damaging
Transcript: ENSMUST00000098578
AA Change: L93P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096177 Gene: ENSMUSG00000004994 AA Change: L93P
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: 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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
Akr1b1 |
A |
T |
6: 34,281,280 (GRCm39) |
|
probably null |
Het |
Alox8 |
A |
T |
11: 69,082,348 (GRCm39) |
|
probably null |
Het |
Apcdd1 |
G |
A |
18: 63,067,107 (GRCm39) |
E74K |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,747,882 (GRCm39) |
V388A |
probably benign |
Het |
AW554918 |
G |
A |
18: 25,533,092 (GRCm39) |
E452K |
possibly damaging |
Het |
C1galt1 |
A |
G |
6: 7,866,874 (GRCm39) |
D240G |
probably damaging |
Het |
Ceacam10 |
T |
A |
7: 24,477,834 (GRCm39) |
D116E |
probably damaging |
Het |
Col15a1 |
G |
T |
4: 47,293,231 (GRCm39) |
V912L |
possibly damaging |
Het |
Cyp3a11 |
G |
A |
5: 145,805,959 (GRCm39) |
T136I |
probably damaging |
Het |
Denr |
C |
T |
5: 124,046,221 (GRCm39) |
T17M |
probably benign |
Het |
Doc2b |
A |
G |
11: 75,670,950 (GRCm39) |
F227S |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,376,414 (GRCm39) |
T1400S |
probably benign |
Het |
Egfr |
A |
T |
11: 16,822,873 (GRCm39) |
D412V |
probably benign |
Het |
Fryl |
C |
T |
5: 73,222,734 (GRCm39) |
G1949D |
possibly damaging |
Het |
Gstp3 |
A |
T |
19: 4,107,636 (GRCm39) |
L176Q |
possibly damaging |
Het |
H2ac12 |
T |
C |
13: 22,219,734 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
T |
A |
12: 51,956,872 (GRCm39) |
N1075I |
probably damaging |
Het |
Ighv1-69 |
C |
T |
12: 115,587,169 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
G |
18: 12,682,309 (GRCm39) |
I1092V |
probably benign |
Het |
Lipg |
A |
T |
18: 75,090,440 (GRCm39) |
H36Q |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,468,318 (GRCm39) |
W836R |
probably damaging |
Het |
Oit3 |
A |
T |
10: 59,271,800 (GRCm39) |
C186S |
probably damaging |
Het |
Or4m1 |
A |
T |
14: 50,558,115 (GRCm39) |
M59K |
probably damaging |
Het |
P2ry2 |
T |
C |
7: 100,647,748 (GRCm39) |
T186A |
probably damaging |
Het |
Pyroxd2 |
T |
C |
19: 42,724,364 (GRCm39) |
T300A |
probably benign |
Het |
Rab26 |
C |
A |
17: 24,748,556 (GRCm39) |
V283F |
probably damaging |
Het |
Rad50 |
C |
T |
11: 53,545,783 (GRCm39) |
R1180Q |
probably damaging |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
A |
G |
5: 93,112,312 (GRCm39) |
D1891G |
possibly damaging |
Het |
Syne2 |
G |
A |
12: 75,937,004 (GRCm39) |
E201K |
probably damaging |
Het |
Taf6 |
A |
T |
5: 138,181,988 (GRCm39) |
|
probably null |
Het |
Tbc1d32 |
A |
T |
10: 56,050,059 (GRCm39) |
M493K |
possibly damaging |
Het |
Uaca |
A |
G |
9: 60,778,663 (GRCm39) |
T1017A |
probably benign |
Het |
Usp17le |
C |
T |
7: 104,418,105 (GRCm39) |
V346I |
possibly damaging |
Het |
Vmn1r71 |
T |
C |
7: 10,482,556 (GRCm39) |
D44G |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,030,665 (GRCm39) |
I830M |
possibly damaging |
Het |
Zfp994 |
T |
C |
17: 22,419,449 (GRCm39) |
Y500C |
possibly damaging |
Het |
Zscan20 |
A |
G |
4: 128,483,243 (GRCm39) |
|
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACATGGCATCCGTCTCCAGCTTC -3'
(R):5'- GTATGCAAGCCTGTGTGTCTTCCTC -3'
Sequencing Primer
(F):5'- TCATGCTCTGCAAGGACC -3'
(R):5'- TCAGGGTTCGCCCAGATG -3'
|
Posted On |
2013-06-11 |