Incidental Mutation 'R4164:Rnf214'
| ID |
321662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf214
|
| Ensembl Gene |
ENSMUSG00000042790 |
| Gene Name |
ring finger protein 214 |
| Synonyms |
D130054N24Rik |
| MMRRC Submission |
041638-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.832)
|
| Stock # |
R4164 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45774723-45818209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45783210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 184
(R184W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058720]
[ENSMUST00000160699]
[ENSMUST00000161187]
[ENSMUST00000161203]
[ENSMUST00000162369]
[ENSMUST00000213659]
[ENSMUST00000162699]
|
| AlphaFold |
Q8BFU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058720
AA Change: R339W
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: R339W
| 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: R339W
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: R339W
| 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 |
probably damaging
Transcript: ENSMUST00000161187
AA Change: R184W
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
AA Change: R184W
| 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: R184W
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
AA Change: R184W
| 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: R339W
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213659
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
89% (40/45) |
| Allele List at MGI |
All alleles(12) : Targeted(3) Gene trapped(9)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
C |
T |
11: 69,780,863 (GRCm39) |
A164T |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,273 (GRCm39) |
D384G |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,781,681 (GRCm39) |
V666A |
probably damaging |
Het |
| Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,725,764 (GRCm39) |
N739K |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,066,575 (GRCm39) |
W2598* |
probably null |
Het |
| Ell |
G |
T |
8: 71,034,223 (GRCm39) |
R30L |
probably damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Fer1l6 |
A |
C |
15: 58,431,087 (GRCm39) |
R247S |
possibly damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi203 |
A |
T |
1: 173,756,029 (GRCm39) |
|
probably benign |
Het |
| Ighm |
T |
A |
12: 113,385,915 (GRCm39) |
E108V |
unknown |
Het |
| Il23r |
T |
A |
6: 67,400,647 (GRCm39) |
Q561L |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,436 (GRCm39) |
D703G |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,537,368 (GRCm39) |
Y1109F |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,367,497 (GRCm39) |
Y1760N |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,038,617 (GRCm39) |
E950G |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,787,119 (GRCm39) |
|
probably null |
Het |
| Mtbp |
T |
C |
15: 55,472,917 (GRCm39) |
V627A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nipbl |
T |
C |
15: 8,368,418 (GRCm39) |
N1142S |
probably benign |
Het |
| Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,946,204 (GRCm39) |
E98G |
probably damaging |
Het |
| Or8a1b |
T |
G |
9: 37,622,994 (GRCm39) |
I194L |
probably benign |
Het |
| Otx1 |
A |
G |
11: 21,946,638 (GRCm39) |
|
probably benign |
Het |
| Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,981,098 (GRCm39) |
F85S |
possibly damaging |
Het |
| Scn5a |
T |
C |
9: 119,324,844 (GRCm39) |
N1328S |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,593,803 (GRCm39) |
|
probably benign |
Het |
| Smarcal1 |
A |
G |
1: 72,665,848 (GRCm39) |
|
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,770 (GRCm39) |
Y138H |
probably damaging |
Het |
| Sox5 |
T |
A |
6: 144,062,206 (GRCm39) |
R149W |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,084,545 (GRCm39) |
C11R |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,706,697 (GRCm39) |
H509L |
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 |
|
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 |
|
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'- CCGGCTCTCTAGTGACAGTATC -3'
(R):5'- CATCATTTGTCTCTCTGGAGTGAGG -3'
Sequencing Primer
(F):5'- CGGCTCTCTAGTGACAGTATCTAAGG -3'
(R):5'- CTCTCTGGAGTGAGGCCTGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation