Incidental Mutation 'R9527:Yju2b'
ID |
719314 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yju2b
|
Ensembl Gene |
ENSMUSG00000004994 |
Gene Name |
YJU2 splicing factor homolog B |
Synonyms |
4930527D15Rik, Ccdc130 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
R9527 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
84984424-84997009 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84989652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 56
(C56S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005120]
[ENSMUST00000098578]
[ENSMUST00000163993]
[ENSMUST00000172320]
|
AlphaFold |
Q9D516 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005120
AA Change: C56S
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000005120 Gene: ENSMUSG00000004994 AA Change: C56S
Domain | Start | End | E-Value | Type |
Pfam:DUF572
|
1 |
198 |
1.7e-85 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098578
AA Change: C56S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096177 Gene: ENSMUSG00000004994 AA Change: C56S
Domain | Start | End | E-Value | Type |
Pfam:DUF572
|
1 |
384 |
1.4e-101 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163993
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172320
AA Change: C56S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128605 Gene: ENSMUSG00000004994 AA Change: C56S
Domain | Start | End | E-Value | Type |
Pfam:DUF572
|
1 |
68 |
1.4e-31 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
A |
G |
2: 127,886,284 (GRCm39) |
D453G |
probably benign |
Het |
Aqr |
A |
C |
2: 113,932,037 (GRCm39) |
S1443R |
probably benign |
Het |
Atr |
T |
C |
9: 95,767,429 (GRCm39) |
M1162T |
probably damaging |
Het |
Bicdl1 |
T |
A |
5: 115,811,188 (GRCm39) |
N241I |
possibly damaging |
Het |
Catip |
A |
G |
1: 74,401,637 (GRCm39) |
N38S |
probably benign |
Het |
Cct6b |
A |
G |
11: 82,630,447 (GRCm39) |
|
probably null |
Het |
Clspn |
A |
T |
4: 126,453,792 (GRCm39) |
R72* |
probably null |
Het |
Cntln |
A |
G |
4: 84,892,120 (GRCm39) |
Q335R |
probably damaging |
Het |
Col9a2 |
T |
C |
4: 120,899,528 (GRCm39) |
|
probably null |
Het |
Dip2c |
A |
G |
13: 9,544,875 (GRCm39) |
N55D |
unknown |
Het |
Dnajc5b |
A |
T |
3: 19,633,248 (GRCm39) |
D157V |
probably damaging |
Het |
Exoc6 |
T |
G |
19: 37,558,987 (GRCm39) |
D86E |
probably benign |
Het |
Fam204a |
A |
T |
19: 60,208,992 (GRCm39) |
H87Q |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,871,617 (GRCm39) |
W1388R |
probably damaging |
Het |
Hcn2 |
A |
T |
10: 79,570,706 (GRCm39) |
I642F |
probably benign |
Het |
Igsf9 |
C |
A |
1: 172,323,244 (GRCm39) |
L653M |
probably damaging |
Het |
Imp4 |
A |
G |
1: 34,481,991 (GRCm39) |
E38G |
probably benign |
Het |
Kirrel1 |
C |
A |
3: 86,996,912 (GRCm39) |
E297* |
probably null |
Het |
Krt82 |
G |
A |
15: 101,454,558 (GRCm39) |
T222I |
probably benign |
Het |
Lysmd1 |
T |
C |
3: 95,042,156 (GRCm39) |
L10P |
probably benign |
Het |
Mcmbp |
A |
G |
7: 128,305,242 (GRCm39) |
S509P |
probably damaging |
Het |
Mms19 |
A |
T |
19: 41,952,830 (GRCm39) |
I93N |
possibly damaging |
Het |
Mtmr7 |
A |
G |
8: 41,011,345 (GRCm39) |
F402L |
possibly damaging |
Het |
Myo1h |
C |
T |
5: 114,453,098 (GRCm39) |
R49C |
|
Het |
Scd3 |
T |
C |
19: 44,226,816 (GRCm39) |
Y217H |
probably benign |
Het |
Snx17 |
T |
C |
5: 31,353,826 (GRCm39) |
Y205H |
probably damaging |
Het |
Spag17 |
T |
A |
3: 99,970,777 (GRCm39) |
D1320E |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,635,191 (GRCm39) |
S539T |
possibly damaging |
Het |
Xirp1 |
C |
A |
9: 119,847,558 (GRCm39) |
V442L |
probably damaging |
Het |
Xrcc5 |
G |
A |
1: 72,369,091 (GRCm39) |
R315H |
probably damaging |
Het |
Zc3hav1 |
C |
A |
6: 38,330,913 (GRCm39) |
C82F |
probably damaging |
Het |
Zfp787 |
A |
G |
7: 6,136,027 (GRCm39) |
F75L |
probably damaging |
Het |
Zswim3 |
C |
T |
2: 164,662,285 (GRCm39) |
T255I |
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 |
|
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 |
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 |
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'- CATAGTACTTGGCACAGAGGGG -3'
(R):5'- GTTCATGAACAGCCAGAATACATC -3'
Sequencing Primer
(F):5'- CACAGAGGGGGCCGAAG -3'
(R):5'- TGTTGCCAAGCCAGAGATC -3'
|
Posted On |
2022-07-18 |