Incidental Mutation 'IGL01662:Rnf214'
| ID |
103186 |
| 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 # |
IGL01662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
45774723-45818209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45811084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 193
(D193G)
|
| 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 damaging
Transcript: ENSMUST00000058720
AA Change: D193G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: D193G
| 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 damaging
Transcript: ENSMUST00000160699
AA Change: D193G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: D193G
| 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 damaging
Transcript: ENSMUST00000162369
AA Change: D193G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215005
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(12) : Targeted(3) Gene trapped(9)
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
A |
T |
7: 119,137,511 (GRCm39) |
I402F |
probably damaging |
Het |
| Acvr2b |
T |
C |
9: 119,261,570 (GRCm39) |
Y388H |
probably damaging |
Het |
| Adh1 |
G |
A |
3: 137,988,512 (GRCm39) |
D162N |
possibly damaging |
Het |
| C6 |
G |
T |
15: 4,822,236 (GRCm39) |
R585I |
probably damaging |
Het |
| Ccdc169 |
T |
A |
3: 55,070,732 (GRCm39) |
|
probably null |
Het |
| Cdh13 |
T |
A |
8: 119,401,916 (GRCm39) |
M106K |
probably damaging |
Het |
| Cep78 |
C |
T |
19: 15,938,359 (GRCm39) |
E530K |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,487 (GRCm39) |
L533Q |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,460 (GRCm39) |
V1181A |
probably benign |
Het |
| Galnt7 |
T |
G |
8: 57,984,769 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,498 (GRCm39) |
R61C |
unknown |
Het |
| Gucy1a1 |
T |
A |
3: 82,016,560 (GRCm39) |
I143F |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,613,050 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,856,020 (GRCm39) |
T741I |
probably benign |
Het |
| Mdc1 |
T |
C |
17: 36,163,397 (GRCm39) |
S982P |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,798,193 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
G |
7: 47,818,172 (GRCm39) |
I188L |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,862 (GRCm39) |
S554C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,220,957 (GRCm39) |
N1715D |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,605,119 (GRCm39) |
S985T |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,155,866 (GRCm39) |
Q22R |
probably benign |
Het |
| Or52i2 |
T |
C |
7: 102,319,927 (GRCm39) |
W267R |
probably damaging |
Het |
| Otulinl |
C |
T |
15: 27,658,151 (GRCm39) |
D290N |
probably damaging |
Het |
| Pabir1 |
A |
G |
19: 24,453,948 (GRCm39) |
V258A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,322 (GRCm39) |
E815G |
probably damaging |
Het |
| Ppp2r2c |
T |
A |
5: 37,083,744 (GRCm39) |
I95N |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,569,225 (GRCm39) |
E717K |
possibly damaging |
Het |
| Prdm2 |
A |
G |
4: 142,860,138 (GRCm39) |
S1051P |
possibly damaging |
Het |
| Sirpb1b |
G |
T |
3: 15,608,244 (GRCm39) |
T167K |
probably damaging |
Het |
| Slc16a3 |
C |
A |
11: 120,847,532 (GRCm39) |
S240* |
probably null |
Het |
| Snx14 |
T |
A |
9: 88,267,891 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,256,866 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
T |
1: 46,068,522 (GRCm39) |
|
noncoding transcript |
Het |
| Taar7b |
A |
T |
10: 23,875,874 (GRCm39) |
D13V |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,066,506 (GRCm39) |
E740G |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,115,279 (GRCm39) |
A2054V |
possibly damaging |
Het |
| Zfp106 |
A |
G |
2: 120,354,034 (GRCm39) |
V211A |
probably benign |
Het |
| Zfp112 |
A |
G |
7: 23,825,379 (GRCm39) |
H449R |
probably benign |
Het |
|
| Other mutations in Rnf214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation