Incidental Mutation 'IGL00769:Rundc1'
| ID |
13887 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rundc1
|
| Ensembl Gene |
ENSMUSG00000035007 |
| Gene Name |
RUN domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.760)
|
| Stock # |
IGL00769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101315910-101326492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101325100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 602
(D602G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040561]
|
| AlphaFold |
Q0VDN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040561
AA Change: D602G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042151
Gene: ENSMUSG00000035007
AA Change: D602G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
80 |
102 |
N/A |
INTRINSIC |
|
coiled coil region
|
165 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
|
RUN
|
540 |
602 |
2.77e-21 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,039 (GRCm39) |
V516A |
possibly damaging |
Het |
| Ambp |
G |
A |
4: 63,062,402 (GRCm39) |
T279I |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,465,322 (GRCm39) |
V285A |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,536,352 (GRCm39) |
S220P |
probably benign |
Het |
| Atp9b |
G |
T |
18: 80,956,068 (GRCm39) |
H129N |
probably benign |
Het |
| Cdh10 |
C |
A |
15: 18,985,185 (GRCm39) |
P283Q |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,237,440 (GRCm39) |
S1941P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,684,230 (GRCm39) |
S575R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,267,715 (GRCm39) |
N796S |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,649,343 (GRCm39) |
Y284F |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,377,786 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 140,907,760 (GRCm39) |
T140M |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,770,116 (GRCm39) |
E303K |
probably benign |
Het |
| Minar2 |
T |
C |
18: 59,205,349 (GRCm39) |
S88P |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
| Msl3 |
T |
A |
X: 167,451,744 (GRCm39) |
E215V |
probably damaging |
Het |
| Pglyrp3 |
A |
T |
3: 91,921,929 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,361,331 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
T |
G |
5: 31,711,121 (GRCm39) |
Y742D |
probably damaging |
Het |
| Spmap1 |
A |
G |
11: 97,662,407 (GRCm39) |
F155S |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,772 (GRCm39) |
P193S |
probably damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,804,081 (GRCm39) |
V252M |
probably benign |
Het |
| Wdr53 |
G |
A |
16: 32,075,315 (GRCm39) |
W173* |
probably null |
Het |
|
| Other mutations in Rundc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Rundc1
|
APN |
11 |
101,324,968 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02112:Rundc1
|
APN |
11 |
101,324,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0379:Rundc1
|
UTSW |
11 |
101,315,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1847:Rundc1
|
UTSW |
11 |
101,324,507 (GRCm39) |
missense |
probably benign |
|
|
R1959:Rundc1
|
UTSW |
11 |
101,322,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Rundc1
|
UTSW |
11 |
101,316,157 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2225:Rundc1
|
UTSW |
11 |
101,322,170 (GRCm39) |
splice site |
probably benign |
|
|
R2323:Rundc1
|
UTSW |
11 |
101,316,101 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3791:Rundc1
|
UTSW |
11 |
101,325,027 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4599:Rundc1
|
UTSW |
11 |
101,324,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Rundc1
|
UTSW |
11 |
101,324,830 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4871:Rundc1
|
UTSW |
11 |
101,324,874 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5054:Rundc1
|
UTSW |
11 |
101,315,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5058:Rundc1
|
UTSW |
11 |
101,316,363 (GRCm39) |
missense |
probably benign |
|
|
R6349:Rundc1
|
UTSW |
11 |
101,324,988 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6965:Rundc1
|
UTSW |
11 |
101,324,737 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7240:Rundc1
|
UTSW |
11 |
101,322,374 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7286:Rundc1
|
UTSW |
11 |
101,320,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7624:Rundc1
|
UTSW |
11 |
101,324,305 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8243:Rundc1
|
UTSW |
11 |
101,316,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8322:Rundc1
|
UTSW |
11 |
101,322,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8401:Rundc1
|
UTSW |
11 |
101,324,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8934:Rundc1
|
UTSW |
11 |
101,322,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Rundc1
|
UTSW |
11 |
101,316,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Rundc1
|
UTSW |
11 |
101,324,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Rundc1
|
UTSW |
11 |
101,322,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation