Incidental Mutation 'R4257:4930578I06Rik'
| ID |
321868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930578I06Rik
|
| Ensembl Gene |
ENSMUSG00000021961 |
| Gene Name |
RIKEN cDNA 4930578I06 gene |
| Synonyms |
|
| MMRRC Submission |
041070-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4257 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
64208570-64225229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64210658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 190
(R190H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022532]
[ENSMUST00000224600]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022532
AA Change: R190H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022532
Gene: ENSMUSG00000021961
AA Change: R190H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLAMP
|
28 |
137 |
1.6e-11 |
PFAM |
|
low complexity region
|
260 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224600
AA Change: R190H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225544
|
| Meta Mutation Damage Score |
0.0772 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
C |
T |
7: 126,430,662 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,771 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,811,983 (GRCm39) |
E70G |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Babam2 |
T |
C |
5: 31,859,414 (GRCm39) |
S40P |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,824,696 (GRCm39) |
V1190A |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,909 (GRCm39) |
E508G |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,283,907 (GRCm39) |
|
probably null |
Het |
| Farp1 |
G |
A |
14: 121,492,891 (GRCm39) |
V498M |
probably benign |
Het |
| Galnt14 |
T |
A |
17: 73,811,899 (GRCm39) |
I441F |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,533,107 (GRCm39) |
L440P |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,339 (GRCm39) |
E43G |
possibly damaging |
Het |
| Gm9755 |
A |
T |
8: 67,967,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gmds |
A |
G |
13: 32,004,172 (GRCm39) |
S337P |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,156,020 (GRCm39) |
Q754L |
unknown |
Het |
| Ltk |
G |
A |
2: 119,583,485 (GRCm39) |
T300I |
possibly damaging |
Het |
| Or5d46 |
A |
C |
2: 88,170,621 (GRCm39) |
K237N |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,813,619 (GRCm39) |
H184Q |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,327,083 (GRCm39) |
F339S |
probably damaging |
Het |
| Prkaa2 |
A |
T |
4: 104,897,153 (GRCm39) |
D353E |
probably benign |
Het |
| Prss36 |
G |
A |
7: 127,532,010 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,851,324 (GRCm39) |
V874A |
probably damaging |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,781,875 (GRCm39) |
D2038G |
possibly damaging |
Het |
| Stkld1 |
A |
G |
2: 26,833,146 (GRCm39) |
M111V |
probably benign |
Het |
| Tprn |
A |
G |
2: 25,154,494 (GRCm39) |
I599V |
probably damaging |
Het |
| Upp2 |
A |
T |
2: 58,670,106 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,464,433 (GRCm39) |
F619Y |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,383 (GRCm39) |
T2875A |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,768,298 (GRCm39) |
L438P |
probably damaging |
Het |
|
| Other mutations in 4930578I06Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03085:4930578I06Rik
|
APN |
14 |
64,208,881 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0372:4930578I06Rik
|
UTSW |
14 |
64,210,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0610:4930578I06Rik
|
UTSW |
14 |
64,223,714 (GRCm39) |
nonsense |
probably null |
|
|
R1055:4930578I06Rik
|
UTSW |
14 |
64,210,724 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1671:4930578I06Rik
|
UTSW |
14 |
64,210,637 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1888:4930578I06Rik
|
UTSW |
14 |
64,223,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1888:4930578I06Rik
|
UTSW |
14 |
64,223,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2327:4930578I06Rik
|
UTSW |
14 |
64,208,569 (GRCm39) |
splice site |
probably null |
|
|
R4243:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R4256:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R4354:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R4863:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R4864:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R5786:4930578I06Rik
|
UTSW |
14 |
64,210,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:4930578I06Rik
|
UTSW |
14 |
64,223,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:4930578I06Rik
|
UTSW |
14 |
64,223,688 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6849:4930578I06Rik
|
UTSW |
14 |
64,223,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:4930578I06Rik
|
UTSW |
14 |
64,223,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8305:4930578I06Rik
|
UTSW |
14 |
64,208,844 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8336:4930578I06Rik
|
UTSW |
14 |
64,223,545 (GRCm39) |
missense |
probably benign |
|
|
R8939:4930578I06Rik
|
UTSW |
14 |
64,225,162 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9407:4930578I06Rik
|
UTSW |
14 |
64,223,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAATGCTAGATGCCTATGTG -3'
(R):5'- ACCAGTATGTCCTGAGCCAG -3'
Sequencing Primer
(F):5'- GTGGCTTTCTGTCTTCACTACCAG -3'
(R):5'- CCAGGATCAGGAGGTCAACC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation