Incidental Mutation 'R4065:4933434E20Rik'
| ID |
316047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4933434E20Rik
|
| Ensembl Gene |
ENSMUSG00000027942 |
| Gene Name |
RIKEN cDNA 4933434E20 gene |
| Synonyms |
|
| MMRRC Submission |
040972-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4065 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89958941-89969754 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 89966073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 178
(R178*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029551]
[ENSMUST00000029552]
[ENSMUST00000068798]
[ENSMUST00000159064]
[ENSMUST00000160640]
[ENSMUST00000162114]
[ENSMUST00000161918]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029551
|
| SMART Domains |
Protein: ENSMUSP00000029551
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4558
|
20 |
105 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000029552
AA Change: R178*
|
| SMART Domains |
Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
AA Change: R178*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
1.3e-89 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000068798
AA Change: R160*
|
| SMART Domains |
Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
AA Change: R160*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
171 |
2.6e-70 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159064
AA Change: R178*
|
| SMART Domains |
Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
AA Change: R178*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
6 |
188 |
4.2e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159202
|
| SMART Domains |
Protein: ENSMUSP00000123777
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
61 |
2.3e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160263
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160640
AA Change: R178*
|
| SMART Domains |
Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
AA Change: R178*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
3.2e-89 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161874
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162114
AA Change: R178*
|
| SMART Domains |
Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
AA Change: R178*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
1.4e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161918
|
| SMART Domains |
Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
64 |
2.2e-34 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,591,616 (GRCm39) |
E769G |
probably damaging |
Het |
| Adcy9 |
C |
A |
16: 4,106,298 (GRCm39) |
V939F |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,308,396 (GRCm39) |
F1643S |
probably damaging |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,646 (GRCm39) |
|
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,019,397 (GRCm39) |
I306T |
probably benign |
Het |
| Camk1d |
A |
T |
2: 5,570,584 (GRCm39) |
F26I |
probably damaging |
Het |
| Cant1 |
G |
T |
11: 118,298,823 (GRCm39) |
D313E |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,101,276 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,492,405 (GRCm39) |
I1182V |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,451,639 (GRCm39) |
|
probably null |
Het |
| Dnajc7 |
T |
C |
11: 100,492,607 (GRCm39) |
Y38C |
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,820 (GRCm39) |
L309P |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,063,346 (GRCm39) |
H4434L |
probably benign |
Het |
| Fbxo16 |
T |
A |
14: 65,508,278 (GRCm39) |
N31K |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,467,206 (GRCm39) |
I183T |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
| Fshr |
T |
C |
17: 89,293,394 (GRCm39) |
Y428C |
probably damaging |
Het |
| Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
| Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
| Grem1 |
A |
G |
2: 113,580,033 (GRCm39) |
L156P |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
| Lamc3 |
C |
A |
2: 31,835,270 (GRCm39) |
H1530Q |
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,777,483 (GRCm39) |
V1846A |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,982,242 (GRCm39) |
H483R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Mvp |
A |
G |
7: 126,595,489 (GRCm39) |
V207A |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,760,579 (GRCm39) |
|
probably null |
Het |
| Or13a26 |
T |
C |
7: 140,284,182 (GRCm39) |
L6P |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,784,718 (GRCm39) |
I49T |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,603,134 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
A |
6: 32,213,300 (GRCm39) |
K637* |
probably null |
Het |
| Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
| Prb1a |
T |
A |
6: 132,184,658 (GRCm39) |
Q325L |
unknown |
Het |
| Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
| Spcs2 |
A |
G |
7: 99,494,012 (GRCm39) |
I164T |
possibly damaging |
Het |
| Ssbp4 |
T |
C |
8: 71,052,210 (GRCm39) |
T77A |
possibly damaging |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uhrf1 |
T |
A |
17: 56,625,020 (GRCm39) |
I521N |
probably damaging |
Het |
| Uros |
A |
G |
7: 133,304,057 (GRCm39) |
|
probably null |
Het |
| Usp47 |
A |
G |
7: 111,652,623 (GRCm39) |
D100G |
probably benign |
Het |
| Utp6 |
T |
C |
11: 79,837,073 (GRCm39) |
R337G |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,006 (GRCm39) |
T3147A |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
| Zfp654 |
G |
A |
16: 64,606,288 (GRCm39) |
T638M |
possibly damaging |
Het |
|
| Other mutations in 4933434E20Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:4933434E20Rik
|
APN |
3 |
89,960,400 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01621:4933434E20Rik
|
APN |
3 |
89,971,809 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01984:4933434E20Rik
|
APN |
3 |
89,970,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02005:4933434E20Rik
|
APN |
3 |
89,965,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0446:4933434E20Rik
|
UTSW |
3 |
89,971,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1717:4933434E20Rik
|
UTSW |
3 |
89,963,544 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1816:4933434E20Rik
|
UTSW |
3 |
89,960,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2170:4933434E20Rik
|
UTSW |
3 |
89,963,611 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2299:4933434E20Rik
|
UTSW |
3 |
89,971,845 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2981:4933434E20Rik
|
UTSW |
3 |
89,965,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3879:4933434E20Rik
|
UTSW |
3 |
89,970,561 (GRCm39) |
unclassified |
probably benign |
|
|
R4724:4933434E20Rik
|
UTSW |
3 |
89,960,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4724:4933434E20Rik
|
UTSW |
3 |
89,960,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:4933434E20Rik
|
UTSW |
3 |
89,960,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:4933434E20Rik
|
UTSW |
3 |
89,970,516 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5076:4933434E20Rik
|
UTSW |
3 |
89,963,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6126:4933434E20Rik
|
UTSW |
3 |
89,963,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6337:4933434E20Rik
|
UTSW |
3 |
89,969,040 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6562:4933434E20Rik
|
UTSW |
3 |
89,970,543 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7312:4933434E20Rik
|
UTSW |
3 |
89,969,021 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7316:4933434E20Rik
|
UTSW |
3 |
89,969,020 (GRCm39) |
missense |
probably benign |
|
|
R7473:4933434E20Rik
|
UTSW |
3 |
89,965,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7990:4933434E20Rik
|
UTSW |
3 |
89,970,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8125:4933434E20Rik
|
UTSW |
3 |
89,972,818 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9268:4933434E20Rik
|
UTSW |
3 |
89,969,030 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACTAGCACTCCTTTCAAGGGTG -3'
(R):5'- ATCCTGGCAAGTTTTATGAGAACAG -3'
Sequencing Primer
(F):5'- CACTCCTTTCAAGGGTGTTGGC -3'
(R):5'- ATGAGAACAGTGTAGCTCTTCTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation