Incidental Mutation 'R7398:Rnf214'
ID |
573971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf214
|
Ensembl Gene |
ENSMUSG00000042790 |
Gene Name |
ring finger protein 214 |
Synonyms |
D130054N24Rik |
MMRRC Submission |
045480-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.842)
|
Stock # |
R7398 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
45774723-45818209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 45778845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 445
(V445I)
|
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 damaging
Transcript: ENSMUST00000058720
AA Change: V600I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000060941 Gene: ENSMUSG00000042790 AA Change: V600I
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 damaging
Transcript: ENSMUST00000160699
AA Change: V600I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123754 Gene: ENSMUSG00000042790 AA Change: V600I
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 |
possibly damaging
Transcript: ENSMUST00000161187
AA Change: V445I
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124296 Gene: ENSMUSG00000042790 AA Change: V445I
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: V445I
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123995 Gene: ENSMUSG00000042790 AA Change: V445I
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 |
possibly damaging
Transcript: ENSMUST00000162369
AA Change: V600I
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213659
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(12) : Targeted(3) Gene trapped(9)
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
T |
A |
2: 31,680,811 (GRCm39) |
S368T |
probably damaging |
Het |
Acmsd |
A |
G |
1: 127,657,172 (GRCm39) |
|
probably benign |
Het |
Arid3b |
A |
T |
9: 57,703,495 (GRCm39) |
S445T |
probably benign |
Het |
Brinp1 |
A |
G |
4: 68,759,591 (GRCm39) |
V91A |
probably benign |
Het |
Ccne1 |
A |
G |
7: 37,805,702 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
T |
1: 45,366,973 (GRCm39) |
I249F |
unknown |
Het |
Crybg3 |
T |
C |
16: 59,377,688 (GRCm39) |
I1189V |
probably benign |
Het |
Cyp2d34 |
A |
T |
15: 82,500,964 (GRCm39) |
D389E |
probably benign |
Het |
D130043K22Rik |
A |
C |
13: 25,077,360 (GRCm39) |
I998L |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,803,056 (GRCm39) |
I298T |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,971,550 (GRCm39) |
E2161G |
probably damaging |
Het |
Dnajc25 |
T |
C |
4: 59,017,824 (GRCm39) |
|
probably null |
Het |
Dpp9 |
G |
A |
17: 56,496,405 (GRCm39) |
R768* |
probably null |
Het |
Dusp6 |
T |
A |
10: 99,100,740 (GRCm39) |
N245K |
probably damaging |
Het |
Eea1 |
C |
A |
10: 95,831,493 (GRCm39) |
H195N |
probably benign |
Het |
Efhc1 |
A |
G |
1: 21,059,744 (GRCm39) |
E598G |
probably benign |
Het |
Epb41l1 |
T |
C |
2: 156,376,682 (GRCm39) |
V809A |
probably damaging |
Het |
Gas8 |
T |
A |
8: 124,245,690 (GRCm39) |
M1K |
probably null |
Het |
Gcm1 |
G |
A |
9: 77,971,961 (GRCm39) |
V301I |
probably benign |
Het |
Gm11554 |
T |
A |
11: 99,695,085 (GRCm39) |
S43C |
unknown |
Het |
Gm7298 |
A |
G |
6: 121,758,912 (GRCm39) |
I1177V |
probably benign |
Het |
Gm8011 |
A |
G |
14: 42,285,918 (GRCm39) |
T27A |
|
Het |
Hmcn1 |
A |
G |
1: 150,522,421 (GRCm39) |
I3493T |
probably benign |
Het |
Insrr |
T |
G |
3: 87,716,039 (GRCm39) |
I578S |
probably damaging |
Het |
Kif13b |
A |
G |
14: 64,994,972 (GRCm39) |
D908G |
probably null |
Het |
Lhcgr |
G |
C |
17: 89,079,474 (GRCm39) |
Q71E |
probably benign |
Het |
Lrrc34 |
T |
C |
3: 30,697,491 (GRCm39) |
D80G |
probably damaging |
Het |
Lrrc7 |
C |
A |
3: 157,997,595 (GRCm39) |
E156* |
probably null |
Het |
Lrrc9 |
A |
G |
12: 72,547,590 (GRCm39) |
D1255G |
probably damaging |
Het |
Mcidas |
A |
G |
13: 113,133,416 (GRCm39) |
N116D |
probably benign |
Het |
Mmp7 |
A |
G |
9: 7,697,594 (GRCm39) |
N210D |
probably damaging |
Het |
Morc3 |
A |
G |
16: 93,671,748 (GRCm39) |
D926G |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
Muc16 |
C |
A |
9: 18,549,038 (GRCm39) |
V5752F |
possibly damaging |
Het |
Myo16 |
A |
T |
8: 10,612,183 (GRCm39) |
D1276V |
unknown |
Het |
Nlrc4 |
T |
G |
17: 74,753,537 (GRCm39) |
E282A |
probably damaging |
Het |
Nos2 |
T |
A |
11: 78,827,297 (GRCm39) |
Y227* |
probably null |
Het |
Obox5 |
A |
C |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
Or10ak13 |
C |
A |
4: 118,638,896 (GRCm39) |
L295F |
possibly damaging |
Het |
Pygm |
G |
A |
19: 6,435,966 (GRCm39) |
R139H |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,303,099 (GRCm39) |
P789T |
probably damaging |
Het |
Riok2 |
T |
G |
17: 17,607,501 (GRCm39) |
S350A |
probably benign |
Het |
Skida1 |
C |
T |
2: 18,051,083 (GRCm39) |
V603I |
unknown |
Het |
Skint6 |
T |
A |
4: 112,755,335 (GRCm39) |
R747S |
probably benign |
Het |
Slc24a5 |
G |
A |
2: 124,927,694 (GRCm39) |
W331* |
probably null |
Het |
Slc5a10 |
A |
T |
11: 61,564,405 (GRCm39) |
C525S |
probably benign |
Het |
Styxl2 |
A |
G |
1: 165,928,044 (GRCm39) |
S523P |
probably damaging |
Het |
Sult2b1 |
T |
C |
7: 45,380,718 (GRCm39) |
Y288C |
probably damaging |
Het |
Tagln3 |
G |
T |
16: 45,543,440 (GRCm39) |
N67K |
probably damaging |
Het |
Trav21-dv12 |
A |
T |
14: 54,114,162 (GRCm39) |
H94L |
probably benign |
Het |
Tshz2 |
A |
G |
2: 169,726,094 (GRCm39) |
E230G |
probably damaging |
Het |
Usb1 |
T |
A |
8: 96,071,931 (GRCm39) |
H210Q |
probably damaging |
Het |
Vill |
C |
T |
9: 118,899,716 (GRCm39) |
P767L |
probably benign |
Het |
Vmn2r94 |
A |
T |
17: 18,477,603 (GRCm39) |
N269K |
probably benign |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
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'- AGAGTCTGAGCAACAGCATG -3'
(R):5'- TCAGGTGTCTGTCAGAGAACAAG -3'
Sequencing Primer
(F):5'- GCCTGCACATAAGCTTGATG -3'
(R):5'- TCTGTCAGAGAACAAGGAGGCTG -3'
|
Posted On |
2019-09-13 |