Incidental Mutation 'R1027:Rnf214'
| ID | 96878 |
|---|
| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Rnf214
|
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| Ensembl Gene |
ENSMUSG00000042790 |
|---|
| Gene Name | ring finger protein 214 |
|---|
| Synonyms | D130054N24Rik |
|---|
| MMRRC Submission |
039129-MU
|
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| Accession Numbers |
Ncbi RefSeq: NM_178709.4; MGI:2444451
|
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| Is this an essential gene? |
Probably essential (E-score: 0.850)
|
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| Stock # | R1027 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Validated
|
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| Chromosome | 9 |
|---|
| Chromosomal Location | 45863425-45906911 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
C to T
at 45899889 bp
|
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| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Valine to Isoleucine
at position 159
(V159I)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000149889
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058720]
[ENSMUST00000160699]
[ENSMUST00000160811]
[ENSMUST00000161187]
[ENSMUST00000161203]
[ENSMUST00000162369]
[ENSMUST00000162699]
[ENSMUST00000213659]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058720
AA Change: V159I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: V159I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
196 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
235 |
382 |
3e-5 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
539 |
N/A |
INTRINSIC |
|
RING
|
620 |
664 |
3.42e-2 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160325
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160469
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000160699
AA Change: V159I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: V159I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
196 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
235 |
382 |
3e-5 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
539 |
N/A |
INTRINSIC |
|
RING
|
620 |
664 |
3.42e-2 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160811
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161187
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
65 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
384 |
N/A |
INTRINSIC |
|
RING
|
465 |
509 |
3.42e-2 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161203
|
|---|
| SMART Domains |
Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eq1a_
|
80 |
227 |
2e-5 |
SMART |
|
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
384 |
N/A |
INTRINSIC |
|
RING
|
500 |
544 |
3.42e-2 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162369
AA Change: V159I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213659
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215005
|
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| Meta Mutation Damage Score |
0.0898
|
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| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 89.0%
|
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| Validation Efficiency |
94% (31/33) |
|---|
| Allele List at MGI |
All alleles(12) : Targeted(3) Gene trapped(9)
|
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| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
G |
T |
17: 33,543,763 |
R572L |
probably benign |
Het |
| Adamts16 |
A |
T |
13: 70,767,802 |
V838E |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,591,375 |
R2026G |
probably benign |
Het |
| Arl16 |
G |
A |
11: 120,465,696 |
A159V |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,580,279 |
R602L |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 139,041,962 |
V72A |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,569,688 |
E213G |
probably benign |
Het |
| Gm10985 |
A |
C |
3: 53,845,253 |
Y19S |
probably damaging |
Het |
| Gm4076 |
T |
C |
13: 85,127,389 |
|
noncoding transcript |
Het |
| Herc1 |
T |
C |
9: 66,455,968 |
V2691A |
probably benign |
Het |
| Hid1 |
A |
C |
11: 115,355,425 |
F340V |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,651,738 |
|
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,854,538 |
|
probably benign |
Het |
| Map9 |
A |
T |
3: 82,377,094 |
D325V |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,539,999 |
M2079V |
probably benign |
Het |
| Nop14 |
A |
G |
5: 34,644,004 |
S608P |
probably damaging |
Het |
| Olfr486 |
A |
T |
7: 108,172,141 |
V201D |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,293,445 |
|
probably benign |
Het |
| Pigs |
T |
C |
11: 78,336,825 |
S272P |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,054,482 |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,650,712 |
D129G |
possibly damaging |
Het |
| Rab33b |
T |
C |
3: 51,484,455 |
S42P |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,145,478 |
M683K |
possibly damaging |
Het |
| Sntb2 |
A |
G |
8: 106,991,571 |
K304E |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,094,084 |
S1518I |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,672,409 |
S76P |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,867,433 |
|
probably benign |
Het |
| Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 34,896,308 |
|
probably null |
Het |
|
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| Other mutations in Rnf214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01662:Rnf214
|
APN |
9 |
45899786 |
missense |
probably damaging |
1.00 |
|
IGL02314:Rnf214
|
APN |
9 |
45899807 |
missense |
probably benign |
0.00 |
|
IGL02604:Rnf214
|
APN |
9 |
45869543 |
missense |
probably damaging |
1.00 |
|
IGL02739:Rnf214
|
APN |
9 |
45869474 |
missense |
probably benign |
|
|
Contorted
|
UTSW |
9 |
45868046 |
nonsense |
probably null |
|
|
R0067:Rnf214
|
UTSW |
9 |
45867498 |
critical splice donor site |
probably null |
|
|
R0067:Rnf214
|
UTSW |
9 |
45867498 |
critical splice donor site |
probably null |
|
|
R0091:Rnf214
|
UTSW |
9 |
45898493 |
critical splice acceptor site |
probably null |
|
|
R0375:Rnf214
|
UTSW |
9 |
45899823 |
missense |
probably damaging |
0.97 |
|
R1850:Rnf214
|
UTSW |
9 |
45869448 |
splice site |
probably benign |
|
|
R2424:Rnf214
|
UTSW |
9 |
45899798 |
missense |
probably damaging |
0.99 |
|
R3751:Rnf214
|
UTSW |
9 |
45867603 |
missense |
probably damaging |
1.00 |
|
R3772:Rnf214
|
UTSW |
9 |
45866634 |
missense |
possibly damaging |
0.83 |
|
R4164:Rnf214
|
UTSW |
9 |
45871912 |
missense |
probably damaging |
0.99 |
|
R4969:Rnf214
|
UTSW |
9 |
45896188 |
missense |
probably damaging |
1.00 |
|
R5032:Rnf214
|
UTSW |
9 |
45899744 |
critical splice donor site |
probably null |
|
|
R5647:Rnf214
|
UTSW |
9 |
45868046 |
nonsense |
probably null |
|
|
R5849:Rnf214
|
UTSW |
9 |
45868088 |
missense |
probably damaging |
1.00 |
|
R5894:Rnf214
|
UTSW |
9 |
45866618 |
missense |
probably damaging |
1.00 |
|
R6296:Rnf214
|
UTSW |
9 |
45867821 |
missense |
probably benign |
0.05 |
|
R6467:Rnf214
|
UTSW |
9 |
45867588 |
missense |
probably damaging |
0.97 |
|
R6533:Rnf214
|
UTSW |
9 |
45900063 |
missense |
probably benign |
0.00 |
|
R6621:Rnf214
|
UTSW |
9 |
45896170 |
missense |
probably damaging |
1.00 |
|
R6801:Rnf214
|
UTSW |
9 |
45896105 |
missense |
probably damaging |
1.00 |
|
R6940:Rnf214
|
UTSW |
9 |
45890898 |
missense |
probably damaging |
0.99 |
|
R7398:Rnf214
|
UTSW |
9 |
45867547 |
missense |
possibly damaging |
0.85 |
|
R8554:Rnf214
|
UTSW |
9 |
45867499 |
critical splice donor site |
probably null |
|
|
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| Predicted Primers |
PCR Primer
(F):5'- TGACACAATGCAGTTCTCTACCACC -3'
(R):5'- ACAGCCCTTTGTCTTTCTGGCAATG -3'
Sequencing Primer
(F):5'- ATGCAGTTCTCTACCACCTAAATGG -3'
(R):5'- CTGGCAATGGGTCTCAGTC -3'
|
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| Posted On | 2014-01-05 |
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