Incidental Mutation 'R3879:4933434E20Rik'
| ID |
308669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4933434E20Rik
|
| Ensembl Gene |
ENSMUSG00000027942 |
| Gene Name |
RIKEN cDNA 4933434E20 gene |
| Synonyms |
|
| MMRRC Submission |
040793-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89958941-89969754 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 89970561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000029552
|
| SMART Domains |
Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
1.3e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068798
|
| SMART Domains |
Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
171 |
2.6e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159064
|
| SMART Domains |
Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
| 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 benign
Transcript: ENSMUST00000160640
|
| SMART Domains |
Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
3.2e-89 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162114
|
| SMART Domains |
Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,122,520 (GRCm39) |
H68Y |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,754,051 (GRCm39) |
K1588N |
possibly damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,615,823 (GRCm39) |
D601G |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,182,792 (GRCm39) |
R409I |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,179 (GRCm39) |
V242A |
possibly damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,029 (GRCm39) |
F705L |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,324,389 (GRCm39) |
T389A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,360 (GRCm39) |
|
probably benign |
Het |
| Gm9894 |
T |
C |
13: 67,912,916 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,837,436 (GRCm39) |
V1262E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,092,780 (GRCm39) |
T1245A |
probably damaging |
Het |
| Or10ad1b |
C |
T |
15: 98,125,085 (GRCm39) |
C147Y |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,613 (GRCm39) |
Y236C |
probably damaging |
Het |
| Pcif1 |
G |
A |
2: 164,727,878 (GRCm39) |
G189D |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,375,594 (GRCm39) |
S1514P |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
| Pramex1 |
T |
C |
X: 134,514,194 (GRCm39) |
H365R |
probably benign |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rasgrp2 |
A |
T |
19: 6,463,920 (GRCm39) |
Q539H |
probably benign |
Het |
| Rgs22 |
T |
G |
15: 36,107,051 (GRCm39) |
I112L |
possibly damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,696,969 (GRCm39) |
T786S |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,192,752 (GRCm39) |
|
probably benign |
Het |
| St7l |
G |
A |
3: 104,833,763 (GRCm39) |
V475I |
probably damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,634,765 (GRCm39) |
V713A |
possibly damaging |
Het |
| Trim16 |
G |
A |
11: 62,731,433 (GRCm39) |
G348S |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,962 (GRCm39) |
Q984* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,566,406 (GRCm39) |
|
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,572 (GRCm39) |
Y497* |
probably null |
Het |
| Zfp462 |
G |
A |
4: 55,060,095 (GRCm39) |
C1207Y |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,476 (GRCm39) |
E644G |
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 |
|
R4065:4933434E20Rik
|
UTSW |
3 |
89,966,073 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGGCTGTTTGCATAAGTCCCTC -3'
(R):5'- ACTTGTGCCGTTTCTGCAGG -3'
Sequencing Primer
(F):5'- CTCTTCAGTCTGATTTCAAGATGTG -3'
(R):5'- TTCTGCAGGGGATGGGAAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation