Incidental Mutation 'R8554:Rnf214'
ID |
660028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf214
|
Ensembl Gene |
ENSMUSG00000042790 |
Gene Name |
ring finger protein 214 |
Synonyms |
D130054N24Rik |
MMRRC Submission |
068517-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.842)
|
Stock # |
R8554 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
45774723-45818209 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to A
at 45778797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123995
(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 null
Transcript: ENSMUST00000058720
|
SMART Domains |
Protein: ENSMUSP00000060941 Gene: ENSMUSG00000042790
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 null
Transcript: ENSMUST00000160699
|
SMART Domains |
Protein: ENSMUSP00000123754 Gene: ENSMUSG00000042790
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 null
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 null
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: V616L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213659
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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 |
Adtrp |
G |
A |
13: 41,969,636 (GRCm39) |
T89I |
possibly damaging |
Het |
Aopep |
T |
A |
13: 63,444,711 (GRCm39) |
Y94N |
possibly damaging |
Het |
Apc |
T |
C |
18: 34,445,999 (GRCm39) |
V947A |
probably damaging |
Het |
Apob |
A |
C |
12: 8,037,830 (GRCm39) |
K334N |
probably damaging |
Het |
Camk2d |
A |
T |
3: 126,564,448 (GRCm39) |
Q119L |
possibly damaging |
Het |
Ccdc60 |
A |
T |
5: 116,328,171 (GRCm39) |
F98I |
probably damaging |
Het |
Cd47 |
A |
G |
16: 49,688,304 (GRCm39) |
T22A |
probably benign |
Het |
Crat |
A |
G |
2: 30,300,035 (GRCm39) |
V115A |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,507,538 (GRCm39) |
M2992V |
probably benign |
Het |
Dsg4 |
T |
A |
18: 20,586,100 (GRCm39) |
N263K |
probably damaging |
Het |
Eln |
A |
C |
5: 134,738,964 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,523,228 (GRCm39) |
E1284G |
unknown |
Het |
Fam193a |
T |
A |
5: 34,633,115 (GRCm39) |
M122K |
probably benign |
Het |
Fcgr1 |
A |
T |
3: 96,199,788 (GRCm39) |
W40R |
probably damaging |
Het |
Gm3486 |
T |
A |
14: 41,209,119 (GRCm39) |
Q84L |
probably damaging |
Het |
Golga2 |
G |
A |
2: 32,183,357 (GRCm39) |
D80N |
probably damaging |
Het |
Isg20 |
T |
C |
7: 78,566,425 (GRCm39) |
Y125H |
probably benign |
Het |
Kdf1 |
A |
G |
4: 133,256,188 (GRCm39) |
I302V |
probably damaging |
Het |
Kics2 |
T |
A |
10: 121,575,960 (GRCm39) |
I27N |
probably benign |
Het |
Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 41,234,495 (GRCm39) |
Q1038L |
probably benign |
Het |
Marchf6 |
G |
A |
15: 31,482,976 (GRCm39) |
H476Y |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,343,448 (GRCm39) |
E215G |
possibly damaging |
Het |
Or2aa1 |
A |
T |
11: 59,480,312 (GRCm39) |
L201Q |
possibly damaging |
Het |
Or2h15 |
T |
A |
17: 38,441,489 (GRCm39) |
Q198L |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,595 (GRCm39) |
T148A |
possibly damaging |
Het |
Pate11 |
A |
G |
9: 36,387,788 (GRCm39) |
I25V |
probably benign |
Het |
Pdlim2 |
T |
A |
14: 70,408,698 (GRCm39) |
T173S |
probably benign |
Het |
Pitpnb |
T |
C |
5: 111,494,372 (GRCm39) |
M74T |
probably benign |
Het |
Pou2f2 |
C |
A |
7: 24,814,981 (GRCm39) |
|
probably benign |
Het |
Rab35 |
A |
C |
5: 115,783,690 (GRCm39) |
|
probably null |
Het |
Rasef |
A |
T |
4: 73,645,844 (GRCm39) |
D508E |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,682,838 (GRCm39) |
S319P |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rgl3 |
A |
G |
9: 21,900,159 (GRCm39) |
S44P |
probably benign |
Het |
Rpsa |
T |
C |
9: 119,958,317 (GRCm39) |
V76A |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Senp7 |
T |
C |
16: 55,978,973 (GRCm39) |
V529A |
probably benign |
Het |
Siglecg |
C |
T |
7: 43,058,320 (GRCm39) |
S69L |
probably benign |
Het |
Sos1 |
G |
T |
17: 80,705,842 (GRCm39) |
T1243K |
probably damaging |
Het |
Tent5a |
T |
C |
9: 85,208,784 (GRCm39) |
D13G |
possibly damaging |
Het |
Tlcd3a |
A |
G |
11: 76,096,244 (GRCm39) |
H124R |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,106,084 (GRCm39) |
T872A |
probably benign |
Het |
Tnfrsf8 |
A |
C |
4: 145,023,511 (GRCm39) |
C107W |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,937,986 (GRCm39) |
Y913C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,568,376 (GRCm39) |
T19179A |
probably damaging |
Het |
Usp42 |
T |
A |
5: 143,706,137 (GRCm39) |
K294N |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,971 (GRCm39) |
C288S |
probably benign |
Het |
Vmn1r29 |
T |
A |
6: 58,285,191 (GRCm39) |
*304K |
probably null |
Het |
Vmn2r1 |
T |
C |
3: 63,997,334 (GRCm39) |
I330T |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,511,997 (GRCm39) |
I735V |
probably benign |
Het |
Vmn2r65 |
T |
C |
7: 84,595,960 (GRCm39) |
I241M |
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 |
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 |
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'- GAGTCTGAGCAACAGCATGTATC -3'
(R):5'- GTGGATGTTCCCAGGAGAAC -3'
Sequencing Primer
(F):5'- GCCTGCACATAAGCTTGATG -3'
(R):5'- GGAGAACTGACTTTATTCCCTCAAC -3'
|
Posted On |
2021-01-18 |