Incidental Mutation 'R2185:Rundc1'
ID |
237838 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rundc1
|
Ensembl Gene |
ENSMUSG00000035007 |
Gene Name |
RUN domain containing 1 |
Synonyms |
|
MMRRC Submission |
040187-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R2185 (G1)
|
Quality Score |
171 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101315910-101326492 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101316157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 76
(D76E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040561]
[ENSMUST00000093933]
[ENSMUST00000103102]
[ENSMUST00000107252]
[ENSMUST00000107257]
[ENSMUST00000107259]
|
AlphaFold |
Q0VDN7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040561
AA Change: D76E
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000042151 Gene: ENSMUSG00000035007 AA Change: D76E
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093933
|
SMART Domains |
Protein: ENSMUSP00000091465 Gene: ENSMUSG00000097487
Domain | Start | End | E-Value | Type |
Pfam:CS
|
6 |
80 |
8.7e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103102
|
SMART Domains |
Protein: ENSMUSP00000099391 Gene: ENSMUSG00000097487
Domain | Start | End | E-Value | Type |
Pfam:CS
|
6 |
80 |
7.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107252
|
SMART Domains |
Protein: ENSMUSP00000102873 Gene: ENSMUSG00000097487
Domain | Start | End | E-Value | Type |
Pfam:CS
|
6 |
80 |
9.6e-9 |
PFAM |
low complexity region
|
141 |
149 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107257
|
SMART Domains |
Protein: ENSMUSP00000102878 Gene: ENSMUSG00000097239
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_2c
|
91 |
214 |
1.4e-8 |
PFAM |
tRNA_SAD
|
309 |
352 |
1.43e-6 |
SMART |
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107259
|
SMART Domains |
Protein: ENSMUSP00000102880 Gene: ENSMUSG00000097239
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_2c
|
109 |
232 |
3.4e-9 |
PFAM |
tRNA_SAD
|
327 |
370 |
1.43e-6 |
SMART |
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149706
|
SMART Domains |
Protein: ENSMUSP00000116399 Gene: ENSMUSG00000097487
Domain | Start | End | E-Value | Type |
SCOP:d1ejfa_
|
2 |
41 |
6e-11 |
SMART |
PDB:1EJF|B
|
2 |
56 |
2e-13 |
PDB |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,829 (GRCm39) |
D119G |
probably damaging |
Het |
Abca1 |
A |
G |
4: 53,089,830 (GRCm39) |
M427T |
probably benign |
Het |
Ankra2 |
T |
C |
13: 98,402,912 (GRCm39) |
F53S |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,605,390 (GRCm39) |
E272G |
probably benign |
Het |
Aqr |
C |
T |
2: 113,961,015 (GRCm39) |
|
probably null |
Het |
Ccdc168 |
G |
A |
1: 44,100,541 (GRCm39) |
H186Y |
probably benign |
Het |
Cibar1 |
A |
T |
4: 12,169,041 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,634,317 (GRCm39) |
Y92C |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,902,002 (GRCm39) |
N2374K |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,794,256 (GRCm39) |
I664L |
probably benign |
Het |
Ctnnd1 |
A |
T |
2: 84,442,892 (GRCm39) |
D626E |
probably damaging |
Het |
Dnai3 |
A |
G |
3: 145,772,619 (GRCm39) |
S476P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,927,953 (GRCm39) |
Y254C |
probably damaging |
Het |
Gabrr3 |
T |
C |
16: 59,255,031 (GRCm39) |
S239P |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,311,041 (GRCm39) |
T64A |
probably null |
Het |
Gm14399 |
C |
A |
2: 174,973,188 (GRCm39) |
C189F |
probably damaging |
Het |
Gm9476 |
T |
G |
10: 100,143,040 (GRCm39) |
|
noncoding transcript |
Het |
Kcnh5 |
A |
T |
12: 75,177,705 (GRCm39) |
F134I |
possibly damaging |
Het |
Kdm4b |
G |
C |
17: 56,700,750 (GRCm39) |
A474P |
probably benign |
Het |
Kif2b |
TTCTCTCTCT |
TTCTCTCT |
11: 91,467,797 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrrc28 |
C |
T |
7: 67,195,201 (GRCm39) |
R203Q |
possibly damaging |
Het |
Lrrc8e |
G |
T |
8: 4,284,986 (GRCm39) |
E404* |
probably null |
Het |
Macf1 |
A |
T |
4: 123,369,349 (GRCm39) |
M239K |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,459,704 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
G |
18: 35,714,278 (GRCm39) |
Y75C |
probably damaging |
Het |
Myo19 |
T |
C |
11: 84,783,047 (GRCm39) |
V187A |
probably benign |
Het |
Ncbp2 |
A |
G |
16: 31,775,195 (GRCm39) |
D116G |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,572 (GRCm39) |
I26F |
probably benign |
Het |
Or4p8 |
A |
C |
2: 88,727,047 (GRCm39) |
V298G |
probably damaging |
Het |
Or56a3 |
T |
A |
7: 104,735,509 (GRCm39) |
D195E |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,363 (GRCm39) |
Y119C |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,359,827 (GRCm39) |
M894K |
possibly damaging |
Het |
Prpf8 |
C |
T |
11: 75,377,939 (GRCm39) |
R8* |
probably null |
Het |
Prss12 |
T |
A |
3: 123,280,793 (GRCm39) |
S493T |
probably benign |
Het |
Ptov1 |
T |
G |
7: 44,516,707 (GRCm39) |
|
probably benign |
Het |
Rfpl4 |
A |
T |
7: 5,118,499 (GRCm39) |
L24M |
probably damaging |
Het |
Slc5a11 |
G |
T |
7: 122,872,421 (GRCm39) |
A673S |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,258,868 (GRCm39) |
M613T |
probably benign |
Het |
Swt1 |
T |
A |
1: 151,260,219 (GRCm39) |
H677L |
probably damaging |
Het |
Tas2r107 |
T |
C |
6: 131,636,566 (GRCm39) |
N161S |
probably damaging |
Het |
Trp73 |
A |
T |
4: 154,189,274 (GRCm39) |
|
probably null |
Het |
Tsr1 |
A |
G |
11: 74,792,906 (GRCm39) |
I405V |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,718,988 (GRCm39) |
T280A |
possibly damaging |
Het |
Ube2q2 |
A |
G |
9: 55,102,366 (GRCm39) |
|
probably null |
Het |
Usp5 |
T |
C |
6: 124,794,373 (GRCm39) |
E769G |
probably damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,882,901 (GRCm39) |
K284* |
probably null |
Het |
Zfp963 |
C |
A |
8: 70,195,561 (GRCm39) |
K297N |
probably benign |
Het |
Zfp975 |
C |
A |
7: 42,311,105 (GRCm39) |
A503S |
possibly damaging |
Het |
|
Other mutations in Rundc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00769:Rundc1
|
APN |
11 |
101,325,100 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGGAGGAGTGCAAGACCC -3'
(R):5'- GAAGGCAAAGTCTTCGAGCTCG -3'
Sequencing Primer
(F):5'- TTTCCGGGAAGATGGCGAC -3'
(R):5'- AGTCTTCGAGCTCGCGCAG -3'
|
Posted On |
2014-10-02 |