Incidental Mutation 'R8243:Rundc1'
| ID |
637664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rundc1
|
| Ensembl Gene |
ENSMUSG00000035007 |
| Gene Name |
RUN domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
067648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.760)
|
| Stock # |
R8243 (G1)
|
| Quality Score |
178.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101315910-101326492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101316384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 152
(D152G)
|
| 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: D152G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000042151
Gene: ENSMUSG00000035007
AA Change: D152G
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
A |
11: 46,015,909 (GRCm39) |
H356Q |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcl6 |
C |
T |
16: 23,786,883 (GRCm39) |
C636Y |
probably damaging |
Het |
| Cabyr |
G |
T |
18: 12,883,759 (GRCm39) |
C82F |
probably benign |
Het |
| Clec4a1 |
T |
C |
6: 122,901,778 (GRCm39) |
V70A |
possibly damaging |
Het |
| Col11a1 |
C |
T |
3: 113,855,141 (GRCm39) |
P134S |
unknown |
Het |
| Col27a1 |
A |
G |
4: 63,144,120 (GRCm39) |
T603A |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,576,468 (GRCm39) |
D1964G |
probably damaging |
Het |
| Dnajc8 |
A |
G |
4: 132,278,775 (GRCm39) |
|
probably null |
Het |
| E330034G19Rik |
T |
C |
14: 24,358,360 (GRCm39) |
Y318H |
|
Het |
| Efemp1 |
T |
A |
11: 28,871,690 (GRCm39) |
S402T |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,097,411 (GRCm39) |
V110A |
possibly damaging |
Het |
| Fgd5 |
C |
T |
6: 91,966,004 (GRCm39) |
L746F |
possibly damaging |
Het |
| Gna13 |
A |
G |
11: 109,287,239 (GRCm39) |
N354S |
probably damaging |
Het |
| Helq |
G |
T |
5: 100,918,348 (GRCm39) |
S855R |
possibly damaging |
Het |
| Hps5 |
G |
T |
7: 46,436,066 (GRCm39) |
A160E |
probably damaging |
Het |
| Igfbp7 |
T |
A |
5: 77,549,339 (GRCm39) |
E188V |
probably benign |
Het |
| Ivd |
A |
G |
2: 118,702,018 (GRCm39) |
Y150C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,708,045 (GRCm39) |
T723A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,288,724 (GRCm39) |
N1239S |
probably benign |
Het |
| Klb |
A |
G |
5: 65,536,338 (GRCm39) |
N556S |
possibly damaging |
Het |
| Klhdc8a |
C |
T |
1: 132,230,304 (GRCm39) |
R140C |
possibly damaging |
Het |
| Klhl2 |
T |
A |
8: 65,202,084 (GRCm39) |
M531L |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,613,956 (GRCm39) |
S546R |
possibly damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Musk |
G |
A |
4: 58,293,600 (GRCm39) |
R63K |
probably benign |
Het |
| Nacad |
C |
T |
11: 6,552,643 (GRCm39) |
E183K |
probably damaging |
Het |
| Oasl1 |
T |
C |
5: 115,066,220 (GRCm39) |
Y113H |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,917,484 (GRCm39) |
C254S |
probably benign |
Het |
| Or1x2 |
C |
T |
11: 50,918,138 (GRCm39) |
T103M |
probably benign |
Het |
| Or4c111 |
T |
A |
2: 88,844,051 (GRCm39) |
Y119F |
probably benign |
Het |
| Or51ab3 |
A |
T |
7: 103,201,205 (GRCm39) |
D71V |
probably damaging |
Het |
| Or8b56 |
A |
G |
9: 38,739,803 (GRCm39) |
E272G |
|
Het |
| P4hb |
T |
C |
11: 120,454,206 (GRCm39) |
D296G |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekhh1 |
G |
A |
12: 79,125,843 (GRCm39) |
R1293H |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,376 (GRCm39) |
T114A |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,229,179 (GRCm39) |
D776G |
probably damaging |
Het |
| Rffl |
A |
G |
11: 82,703,621 (GRCm39) |
C101R |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,079,916 (GRCm39) |
T737A |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,687 (GRCm39) |
T496A |
probably damaging |
Het |
| Supt7l |
T |
C |
5: 31,673,013 (GRCm39) |
I412V |
probably benign |
Het |
| Trim38 |
T |
A |
13: 23,975,378 (GRCm39) |
I439N |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Usp18 |
G |
A |
6: 121,246,103 (GRCm39) |
R353H |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,700,849 (GRCm39) |
K1058R |
probably benign |
Het |
| Utp25 |
T |
C |
1: 192,796,937 (GRCm39) |
D598G |
probably benign |
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 |
|
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 |
|
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'- AGCTAGGAACTGTGGTGACC -3'
(R):5'- TATAGTACTTCCAGCTCGGTCGC -3'
Sequencing Primer
(F):5'- AACTGTGGTGACCGCTGTC -3'
(R):5'- AGCTCGGTCGCTCCTCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation