Incidental Mutation 'R6642:Rundc3b'
ID |
525841 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rundc3b
|
Ensembl Gene |
ENSMUSG00000040570 |
Gene Name |
RUN domain containing 3B |
Synonyms |
LOC242819 |
MMRRC Submission |
044763-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.605)
|
Stock # |
R6642 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8540334-8672952 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 8629071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 110
(I110N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047485]
[ENSMUST00000115378]
|
AlphaFold |
Q6PDC0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047485
AA Change: I110N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040108 Gene: ENSMUSG00000040570 AA Change: I110N
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
26 |
N/A |
INTRINSIC |
RUN
|
126 |
188 |
3.28e-23 |
SMART |
low complexity region
|
209 |
221 |
N/A |
INTRINSIC |
low complexity region
|
270 |
278 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115378
AA Change: I110N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111036 Gene: ENSMUSG00000040570 AA Change: I110N
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
26 |
N/A |
INTRINSIC |
RUN
|
126 |
188 |
3.28e-23 |
SMART |
low complexity region
|
209 |
221 |
N/A |
INTRINSIC |
low complexity region
|
270 |
278 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4049 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
A |
2: 152,282,790 (GRCm39) |
V215D |
probably damaging |
Het |
Ablim1 |
A |
G |
19: 57,119,284 (GRCm39) |
S267P |
probably benign |
Het |
Adcy2 |
C |
T |
13: 68,768,945 (GRCm39) |
C1061Y |
probably damaging |
Het |
Aip |
C |
A |
19: 4,165,149 (GRCm39) |
C240F |
probably damaging |
Het |
Aldh1a2 |
A |
T |
9: 71,160,268 (GRCm39) |
D98V |
probably damaging |
Het |
Arhgef40 |
T |
C |
14: 52,228,419 (GRCm39) |
|
probably benign |
Het |
Cplx2 |
G |
T |
13: 54,526,736 (GRCm39) |
R48L |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,451 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,353,006 (GRCm39) |
T2720A |
probably benign |
Het |
Fzd1 |
A |
G |
5: 4,805,696 (GRCm39) |
Y629H |
probably damaging |
Het |
Gins1 |
T |
C |
2: 150,770,038 (GRCm39) |
|
probably null |
Het |
Gpr149 |
C |
T |
3: 62,437,995 (GRCm39) |
A721T |
probably damaging |
Het |
Helb |
A |
T |
10: 119,920,835 (GRCm39) |
M1036K |
probably benign |
Het |
Il16 |
A |
G |
7: 83,337,335 (GRCm39) |
F127L |
probably benign |
Het |
Kctd20 |
A |
T |
17: 29,180,640 (GRCm39) |
H138L |
probably damaging |
Het |
Kctd9 |
T |
A |
14: 67,962,122 (GRCm39) |
L55* |
probably null |
Het |
Marf1 |
C |
T |
16: 13,950,611 (GRCm39) |
R925H |
probably benign |
Het |
Mbip |
A |
T |
12: 56,389,191 (GRCm39) |
|
probably benign |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nod1 |
T |
G |
6: 54,925,014 (GRCm39) |
D99A |
probably damaging |
Het |
Olfm4 |
A |
G |
14: 80,259,107 (GRCm39) |
K419E |
probably damaging |
Het |
Or6c214 |
A |
T |
10: 129,591,232 (GRCm39) |
L29Q |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,521,845 (GRCm39) |
D137G |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,743,682 (GRCm39) |
E191G |
probably benign |
Het |
Rassf10 |
A |
T |
7: 112,554,784 (GRCm39) |
T462S |
probably benign |
Het |
Sgsm3 |
C |
T |
15: 80,893,901 (GRCm39) |
R479C |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,144,834 (GRCm39) |
Y575* |
probably null |
Het |
Trim33 |
T |
C |
3: 103,244,830 (GRCm39) |
L310S |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Ttn |
T |
C |
2: 76,565,740 (GRCm39) |
E28204G |
probably damaging |
Het |
Vmn1r233 |
A |
T |
17: 21,214,002 (GRCm39) |
L316Q |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,803,779 (GRCm39) |
N265K |
possibly damaging |
Het |
Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
|
Other mutations in Rundc3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01064:Rundc3b
|
APN |
5 |
8,619,553 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01726:Rundc3b
|
APN |
5 |
8,570,902 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02271:Rundc3b
|
APN |
5 |
8,542,530 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03394:Rundc3b
|
APN |
5 |
8,598,261 (GRCm39) |
missense |
possibly damaging |
0.93 |
F5770:Rundc3b
|
UTSW |
5 |
8,672,549 (GRCm39) |
small deletion |
probably benign |
|
R0656:Rundc3b
|
UTSW |
5 |
8,619,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R1702:Rundc3b
|
UTSW |
5 |
8,562,318 (GRCm39) |
missense |
probably benign |
|
R1776:Rundc3b
|
UTSW |
5 |
8,629,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R1829:Rundc3b
|
UTSW |
5 |
8,629,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Rundc3b
|
UTSW |
5 |
8,562,409 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3606:Rundc3b
|
UTSW |
5 |
8,562,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Rundc3b
|
UTSW |
5 |
8,578,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R6452:Rundc3b
|
UTSW |
5 |
8,629,175 (GRCm39) |
splice site |
probably null |
|
R7022:Rundc3b
|
UTSW |
5 |
8,562,348 (GRCm39) |
missense |
probably null |
0.00 |
R7187:Rundc3b
|
UTSW |
5 |
8,542,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R7310:Rundc3b
|
UTSW |
5 |
8,571,011 (GRCm39) |
nonsense |
probably null |
|
R7391:Rundc3b
|
UTSW |
5 |
8,609,455 (GRCm39) |
missense |
probably benign |
0.00 |
R8523:Rundc3b
|
UTSW |
5 |
8,619,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R9709:Rundc3b
|
UTSW |
5 |
8,570,982 (GRCm39) |
missense |
probably benign |
0.11 |
R9732:Rundc3b
|
UTSW |
5 |
8,562,406 (GRCm39) |
missense |
probably damaging |
1.00 |
V7582:Rundc3b
|
UTSW |
5 |
8,672,549 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGCAACAGTGGTCATTCAAC -3'
(R):5'- AGCTAGAGGAGGGCTTACTG -3'
Sequencing Primer
(F):5'- CCTCTAAAGGATGTCAACAACTTGGG -3'
(R):5'- CTAGAGGAGGGCTTACTGTTCTTGC -3'
|
Posted On |
2018-06-22 |