Incidental Mutation 'R2323:Rundc1'
| ID |
244815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rundc1
|
| Ensembl Gene |
ENSMUSG00000035007 |
| Gene Name |
RUN domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
040314-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.734)
|
| Stock # |
R2323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101315910-101326492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101316101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 58
(F58L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040561]
[ENSMUST00000093933]
[ENSMUST00000103102]
[ENSMUST00000107252]
[ENSMUST00000107257]
[ENSMUST00000107259]
|
| AlphaFold |
Q0VDN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040561
AA Change: F58L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042151
Gene: ENSMUSG00000035007
AA Change: F58L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150957
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
| Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
| Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
| Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
| Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
| Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
| Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
| Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
| Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
| Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
| Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
| Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
| Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
probably null |
Het |
| Zscan18 |
T |
C |
7: 12,509,386 (GRCm39) |
|
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 |
|
|
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'- ATGCATTAAAGTCCCGAGGGG -3'
(R):5'- AGGCAAAGTCTTCGAGCTCG -3'
Sequencing Primer
(F):5'- TTTCCGGGAAGATGGCGAC -3'
(R):5'- AGTCTTCGAGCTCGCGCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation