Incidental Mutation 'R1027:Rnf214'
| ID |
96878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf214
|
| Ensembl Gene |
ENSMUSG00000042790 |
| Gene Name |
ring finger protein 214 |
| Synonyms |
D130054N24Rik |
| MMRRC Submission |
039129-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.842)
|
| Stock # |
R1027 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45774723-45818209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45811187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 159
(V159I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058720]
[ENSMUST00000160699]
[ENSMUST00000160811]
[ENSMUST00000161187]
[ENSMUST00000161203]
[ENSMUST00000162369]
[ENSMUST00000162699]
[ENSMUST00000213659]
|
| AlphaFold |
Q8BFU3 |
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160469
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000215005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213659
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 89.0%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
All alleles(12) : Targeted(3) Gene trapped(9)
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
G |
T |
17: 33,762,737 (GRCm39) |
R572L |
probably benign |
Het |
| Adamts16 |
A |
T |
13: 70,915,921 (GRCm39) |
V838E |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,467,123 (GRCm39) |
R2026G |
probably benign |
Het |
| Arl16 |
G |
A |
11: 120,356,522 (GRCm39) |
A159V |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,407,849 (GRCm39) |
R602L |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 138,969,700 (GRCm39) |
V72A |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,390,051 (GRCm39) |
E213G |
probably benign |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gm4076 |
T |
C |
13: 85,275,508 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
C |
9: 66,363,250 (GRCm39) |
V2691A |
probably benign |
Het |
| Hid1 |
A |
C |
11: 115,246,251 (GRCm39) |
F340V |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,696,458 (GRCm39) |
|
probably benign |
Het |
| Map9 |
A |
T |
3: 82,284,401 (GRCm39) |
D325V |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,624,456 (GRCm39) |
M2079V |
probably benign |
Het |
| Nop14 |
A |
G |
5: 34,801,348 (GRCm39) |
S608P |
probably damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,348 (GRCm39) |
V201D |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,746,482 (GRCm39) |
|
probably benign |
Het |
| Pigs |
T |
C |
11: 78,227,651 (GRCm39) |
S272P |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,101,256 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,468,576 (GRCm39) |
D129G |
possibly damaging |
Het |
| Rab33b |
T |
C |
3: 51,391,876 (GRCm39) |
S42P |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,302,820 (GRCm39) |
M683K |
possibly damaging |
Het |
| Sntb2 |
A |
G |
8: 107,718,203 (GRCm39) |
K304E |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,094,084 (GRCm39) |
S1518I |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,544,258 (GRCm39) |
S76P |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,697,777 (GRCm39) |
|
probably benign |
Het |
| Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 35,115,284 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rnf214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01662:Rnf214
|
APN |
9 |
45,811,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Rnf214
|
APN |
9 |
45,811,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02604:Rnf214
|
APN |
9 |
45,780,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02739:Rnf214
|
APN |
9 |
45,780,772 (GRCm39) |
missense |
probably benign |
|
|
Contorted
|
UTSW |
9 |
45,779,344 (GRCm39) |
nonsense |
probably null |
|
|
R0067:Rnf214
|
UTSW |
9 |
45,778,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0067:Rnf214
|
UTSW |
9 |
45,778,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0091:Rnf214
|
UTSW |
9 |
45,809,791 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0375:Rnf214
|
UTSW |
9 |
45,811,121 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1850:Rnf214
|
UTSW |
9 |
45,780,746 (GRCm39) |
splice site |
probably benign |
|
|
R2424:Rnf214
|
UTSW |
9 |
45,811,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3751:Rnf214
|
UTSW |
9 |
45,778,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Rnf214
|
UTSW |
9 |
45,777,932 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4164:Rnf214
|
UTSW |
9 |
45,783,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4969:Rnf214
|
UTSW |
9 |
45,807,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Rnf214
|
UTSW |
9 |
45,811,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5647:Rnf214
|
UTSW |
9 |
45,779,344 (GRCm39) |
nonsense |
probably null |
|
|
R5849:Rnf214
|
UTSW |
9 |
45,779,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Rnf214
|
UTSW |
9 |
45,777,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6296:Rnf214
|
UTSW |
9 |
45,779,119 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6467:Rnf214
|
UTSW |
9 |
45,778,886 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6533:Rnf214
|
UTSW |
9 |
45,811,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6621:Rnf214
|
UTSW |
9 |
45,807,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6801:Rnf214
|
UTSW |
9 |
45,807,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6940:Rnf214
|
UTSW |
9 |
45,802,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7398:Rnf214
|
UTSW |
9 |
45,778,845 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8554:Rnf214
|
UTSW |
9 |
45,778,797 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8710:Rnf214
|
UTSW |
9 |
45,778,748 (GRCm39) |
unclassified |
probably benign |
|
|
R8962:Rnf214
|
UTSW |
9 |
45,809,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9060:Rnf214
|
UTSW |
9 |
45,809,772 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9093:Rnf214
|
UTSW |
9 |
45,811,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9215:Rnf214
|
UTSW |
9 |
45,816,129 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9456:Rnf214
|
UTSW |
9 |
45,779,286 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9563:Rnf214
|
UTSW |
9 |
45,811,141 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACACAATGCAGTTCTCTACCACC -3'
(R):5'- ACAGCCCTTTGTCTTTCTGGCAATG -3'
Sequencing Primer
(F):5'- ATGCAGTTCTCTACCACCTAAATGG -3'
(R):5'- CTGGCAATGGGTCTCAGTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation