Incidental Mutation 'IGL02604:Rnf214'
| ID |
300176 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf214
|
| Ensembl Gene |
ENSMUSG00000042790 |
| Gene Name |
ring finger protein 214 |
| Synonyms |
D130054N24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.832)
|
| Stock # |
IGL02604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
45774723-45818209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45780841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 383
(S383P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058720]
[ENSMUST00000160699]
[ENSMUST00000161187]
[ENSMUST00000161203]
[ENSMUST00000162369]
[ENSMUST00000162699]
[ENSMUST00000213659]
|
| AlphaFold |
Q8BFU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058720
AA Change: S383P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: S383P
| 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: ENSMUST00000100407
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160699
AA Change: S383P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: S383P
| 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: ENSMUST00000160868
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161187
AA Change: S228P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
AA Change: S228P
| 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 |
possibly damaging
Transcript: ENSMUST00000161203
AA Change: S228P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
AA Change: S228P
| 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 damaging
Transcript: ENSMUST00000162369
AA Change: S383P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213659
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(12) : Targeted(3) Gene trapped(9)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
| Arfgef1 |
G |
A |
1: 10,251,275 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,850,804 (GRCm39) |
L594* |
probably null |
Het |
| Cacna2d3 |
T |
C |
14: 29,015,066 (GRCm39) |
T375A |
possibly damaging |
Het |
| Calb2 |
A |
C |
8: 110,875,160 (GRCm39) |
Y155D |
probably damaging |
Het |
| Camkmt |
A |
G |
17: 85,404,053 (GRCm39) |
T92A |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,921 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,542,187 (GRCm39) |
S442G |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,151,395 (GRCm39) |
I173V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,896,134 (GRCm39) |
T741A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,428,252 (GRCm39) |
I866T |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,474,778 (GRCm39) |
I138F |
possibly damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,655,626 (GRCm39) |
|
probably benign |
Het |
| Fsbp |
A |
G |
4: 11,584,147 (GRCm39) |
E282G |
probably damaging |
Het |
| Hpgds |
A |
T |
6: 65,100,594 (GRCm39) |
L128Q |
probably damaging |
Het |
| Hspa9 |
A |
G |
18: 35,087,266 (GRCm39) |
V13A |
unknown |
Het |
| Itgb3 |
A |
G |
11: 104,553,269 (GRCm39) |
E709G |
probably damaging |
Het |
| Jarid2 |
T |
C |
13: 45,027,877 (GRCm39) |
S148P |
probably damaging |
Het |
| Kcna6 |
C |
T |
6: 126,716,167 (GRCm39) |
G241R |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,408,941 (GRCm39) |
N1541K |
probably benign |
Het |
| Kel |
C |
A |
6: 41,664,516 (GRCm39) |
E640D |
probably damaging |
Het |
| Lcp1 |
A |
T |
14: 75,461,566 (GRCm39) |
I520F |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,841,658 (GRCm39) |
I524V |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,970,141 (GRCm39) |
Y139D |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,362 (GRCm39) |
|
probably null |
Het |
| Obox7 |
A |
G |
7: 14,399,293 (GRCm39) |
E173G |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,857 (GRCm39) |
Y168F |
probably benign |
Het |
| Or2a25 |
T |
A |
6: 42,888,992 (GRCm39) |
C178* |
probably null |
Het |
| Or5w22 |
A |
T |
2: 87,362,949 (GRCm39) |
T191S |
probably damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,148 (GRCm39) |
Q19* |
probably null |
Het |
| Or9i1 |
T |
A |
19: 13,839,170 (GRCm39) |
N4K |
probably benign |
Het |
| Patl2 |
T |
G |
2: 121,955,814 (GRCm39) |
T241P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhg6 |
T |
C |
6: 125,354,342 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
A |
6: 5,168,375 (GRCm39) |
G344V |
probably damaging |
Het |
| Ppp1r21 |
G |
T |
17: 88,880,171 (GRCm39) |
K529N |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,623,142 (GRCm39) |
S203P |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,000,098 (GRCm39) |
|
probably null |
Het |
| Ptn |
T |
C |
6: 36,692,653 (GRCm39) |
M166V |
unknown |
Het |
| Ptpn13 |
A |
G |
5: 103,649,769 (GRCm39) |
N391D |
probably benign |
Het |
| Rufy4 |
T |
A |
1: 74,173,348 (GRCm39) |
L438H |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,621,608 (GRCm39) |
T353A |
probably damaging |
Het |
| Serpinb9e |
A |
C |
13: 33,441,742 (GRCm39) |
I225L |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,503,219 (GRCm39) |
V312A |
probably benign |
Het |
| Tmc3 |
A |
G |
7: 83,271,827 (GRCm39) |
Y993C |
possibly damaging |
Het |
| Trim56 |
A |
C |
5: 137,141,930 (GRCm39) |
C529G |
probably damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,917 (GRCm39) |
S490P |
probably damaging |
Het |
| Trmt6 |
A |
T |
2: 132,652,357 (GRCm39) |
Y147* |
probably null |
Het |
| Vmn2r109 |
T |
A |
17: 20,760,963 (GRCm39) |
H798L |
probably damaging |
Het |
| Vps35 |
A |
G |
8: 86,013,018 (GRCm39) |
L153P |
probably damaging |
Het |
| Wdr82 |
T |
C |
9: 106,060,880 (GRCm39) |
I131T |
probably damaging |
Het |
| Zfp69 |
A |
T |
4: 120,788,660 (GRCm39) |
D218E |
probably benign |
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 |
|
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 |
|
R1027:Rnf214
|
UTSW |
9 |
45,811,187 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation