Incidental Mutation 'R3751:Rnf214'
| ID |
271214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf214
|
| Ensembl Gene |
ENSMUSG00000042790 |
| Gene Name |
ring finger protein 214 |
| Synonyms |
D130054N24Rik |
| MMRRC Submission |
040736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.842)
|
| Stock # |
R3751 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45774723-45818209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 45778901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 581
(I581S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034591]
[ENSMUST00000058720]
[ENSMUST00000160699]
[ENSMUST00000161187]
[ENSMUST00000161203]
[ENSMUST00000162369]
[ENSMUST00000162699]
[ENSMUST00000213659]
|
| AlphaFold |
Q8BFU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034591
|
| SMART Domains |
Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
45 |
N/A |
INTRINSIC |
|
Pfam:Asp
|
74 |
418 |
3.1e-46 |
PFAM |
|
Pfam:TAXi_C
|
259 |
417 |
1.2e-13 |
PFAM |
|
transmembrane domain
|
455 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058720
AA Change: I581S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: I581S
| 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: I581S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: I581S
| 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: I426S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
AA Change: I426S
| 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 damaging
Transcript: ENSMUST00000161203
AA Change: I426S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
AA Change: I426S
| 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: I581S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213659
|
| Meta Mutation Damage Score |
0.8053 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
93% (43/46) |
| Allele List at MGI |
All alleles(12) : Targeted(3) Gene trapped(9)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
T |
7: 12,289,973 (GRCm39) |
R183I |
probably benign |
Het |
| BC016579 |
A |
T |
16: 45,453,361 (GRCm39) |
|
probably null |
Het |
| BC051665 |
A |
T |
13: 60,931,145 (GRCm39) |
F258I |
probably damaging |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,814,459 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ceacam18 |
T |
A |
7: 43,291,372 (GRCm39) |
H271Q |
probably damaging |
Het |
| Cep104 |
A |
G |
4: 154,066,213 (GRCm39) |
Y137C |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,724,424 (GRCm39) |
V212A |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,777,216 (GRCm39) |
M885K |
probably benign |
Het |
| Col6a4 |
G |
T |
9: 105,949,313 (GRCm39) |
T774N |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,403 (GRCm39) |
T1049A |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,239 (GRCm39) |
I276V |
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,477,420 (GRCm39) |
H34R |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,801,921 (GRCm39) |
H32L |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,532,998 (GRCm39) |
I141M |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,641 (GRCm39) |
I121N |
probably damaging |
Het |
| Krtap17-1 |
A |
T |
11: 99,884,481 (GRCm39) |
C95* |
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,058 (GRCm39) |
Y748C |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,867,742 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,780,997 (GRCm39) |
L31P |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,183,284 (GRCm39) |
Q886R |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,118,115 (GRCm39) |
|
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or6c38 |
T |
A |
10: 128,929,175 (GRCm39) |
I223F |
probably damaging |
Het |
| Or7h8 |
C |
T |
9: 20,124,556 (GRCm39) |
L304F |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,337,447 (GRCm39) |
|
probably benign |
Het |
| Ppm1k |
T |
G |
6: 57,501,845 (GRCm39) |
E106A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,316,417 (GRCm39) |
V1049A |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,295,292 (GRCm39) |
L262P |
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,929,928 (GRCm39) |
V139I |
probably benign |
Het |
| Slc8a3 |
G |
T |
12: 81,250,912 (GRCm39) |
L684M |
probably damaging |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,066 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,382 (GRCm39) |
T152A |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
probably damaging |
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 |
|
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 |
|
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'- GCAGAGCAGATATTCCTTGCTC -3'
(R):5'- AAGGCTTCTTCTGAAACTCCCC -3'
Sequencing Primer
(F):5'- AGAGCAGATATTCCTTGCTCTGATC -3'
(R):5'- AGAAGATCCTGGAGAAGCTGCTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation