Incidental Mutation 'R9356:Rundc3a'
| ID |
708431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rundc3a
|
| Ensembl Gene |
ENSMUSG00000006575 |
| Gene Name |
RUN domain containing 3A |
| Synonyms |
Rpip8, Rap2ip |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R9356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102292890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 428
(S428P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000124755]
[ENSMUST00000130436]
[ENSMUST00000134669]
[ENSMUST00000142097]
[ENSMUST00000149777]
[ENSMUST00000154001]
[ENSMUST00000155104]
|
| AlphaFold |
O08576 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006750
AA Change: S428P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: S428P
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018821
|
| SMART Domains |
Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
156 |
6.9e-23 |
PFAM |
|
Pfam:Mito_carr
|
158 |
247 |
6.1e-19 |
PFAM |
|
Pfam:Mito_carr
|
251 |
352 |
1.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107098
|
| SMART Domains |
Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
148 |
1.4e-21 |
PFAM |
|
Pfam:Mito_carr
|
150 |
240 |
3.7e-19 |
PFAM |
|
Pfam:Mito_carr
|
243 |
344 |
4.6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107102
|
| SMART Domains |
Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107103
|
| SMART Domains |
Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
120 |
182 |
2.34e-19 |
SMART |
|
coiled coil region
|
262 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107105
|
| SMART Domains |
Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124755
|
| SMART Domains |
Protein: ENSMUSP00000120021
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
71 |
1.3e-9 |
PFAM |
|
Pfam:Mito_carr
|
92 |
152 |
9.7e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128825
|
| SMART Domains |
Protein: ENSMUSP00000121790
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
35 |
77 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130436
|
| SMART Domains |
Protein: ENSMUSP00000115087
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
70 |
1.8e-9 |
PFAM |
|
Pfam:Mito_carr
|
92 |
156 |
5.7e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134669
|
| SMART Domains |
Protein: ENSMUSP00000114481
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
69 |
1.9e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142097
|
| SMART Domains |
Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
63 |
2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149777
|
| SMART Domains |
Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
70 |
2.7e-9 |
PFAM |
|
Pfam:Mito_carr
|
92 |
156 |
8.7e-15 |
PFAM |
|
Pfam:Mito_carr
|
158 |
220 |
6.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154001
|
| SMART Domains |
Protein: ENSMUSP00000116336
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
70 |
3.1e-10 |
PFAM |
|
Pfam:Mito_carr
|
92 |
156 |
9.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155104
|
| SMART Domains |
Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
69 |
3.7e-9 |
PFAM |
|
Pfam:Mito_carr
|
92 |
156 |
1.2e-14 |
PFAM |
|
Pfam:Mito_carr
|
158 |
248 |
5.4e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,206,305 (GRCm39) |
V202M |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,264,144 (GRCm39) |
I354N |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,510,236 (GRCm39) |
D710E |
probably damaging |
Het |
| Apba2 |
A |
T |
7: 64,345,421 (GRCm39) |
N204Y |
probably damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,394,627 (GRCm39) |
V139A |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,239,653 (GRCm39) |
E251G |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,687,408 (GRCm39) |
D530G |
probably benign |
Het |
| Chrna7 |
A |
T |
7: 62,757,437 (GRCm39) |
V154E |
probably damaging |
Het |
| Cldn15 |
T |
C |
5: 136,996,968 (GRCm39) |
V3A |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,252,069 (GRCm39) |
L929Q |
probably damaging |
Het |
| Ctss |
A |
C |
3: 95,454,120 (GRCm39) |
H224P |
possibly damaging |
Het |
| Cyp4a12a |
C |
A |
4: 115,185,915 (GRCm39) |
H408N |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpr162 |
T |
C |
6: 124,838,297 (GRCm39) |
M118V |
possibly damaging |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,899,825 (GRCm39) |
C495* |
probably null |
Het |
| Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
| Jmjd4 |
T |
A |
11: 59,345,761 (GRCm39) |
D280E |
probably benign |
Het |
| Krtap1-4 |
G |
A |
11: 99,474,169 (GRCm39) |
Q96* |
probably null |
Het |
| Ksr2 |
T |
A |
5: 117,827,706 (GRCm39) |
I495N |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,088,186 (GRCm39) |
N864Y |
probably damaging |
Het |
| Lce1f |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
3: 92,626,272 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,022,538 (GRCm39) |
V414A |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,415 (GRCm39) |
F211S |
probably damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,443,312 (GRCm39) |
E665G |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,938,837 (GRCm39) |
L86F |
probably damaging |
Het |
| Mfsd10 |
C |
A |
5: 34,794,048 (GRCm39) |
E22* |
probably null |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,482,760 (GRCm39) |
M735V |
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,725,873 (GRCm39) |
M1060L |
probably benign |
Het |
| Myo7b |
C |
A |
18: 32,110,096 (GRCm39) |
S1122I |
probably damaging |
Het |
| Nudt17 |
T |
A |
3: 96,613,688 (GRCm39) |
R313S |
probably damaging |
Het |
| Or52n5 |
A |
G |
7: 104,588,373 (GRCm39) |
I213M |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,089 (GRCm39) |
Q193L |
probably benign |
Het |
| Or6c65 |
T |
G |
10: 129,604,035 (GRCm39) |
I223M |
possibly damaging |
Het |
| Or8h7 |
T |
A |
2: 86,720,605 (GRCm39) |
M305L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,617,890 (GRCm39) |
Y1741C |
probably damaging |
Het |
| Pja2 |
A |
G |
17: 64,618,204 (GRCm39) |
V65A |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,043,318 (GRCm39) |
V325A |
probably benign |
Het |
| Prss36 |
T |
C |
7: 127,545,697 (GRCm39) |
|
probably benign |
Het |
| Ptpn20 |
T |
G |
14: 33,352,865 (GRCm39) |
Y201* |
probably null |
Het |
| Rxra |
T |
A |
2: 27,649,675 (GRCm39) |
L460Q |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,597,948 (GRCm39) |
V182M |
probably damaging |
Het |
| Slc14a2 |
A |
C |
18: 78,227,823 (GRCm39) |
I226S |
probably null |
Het |
| Spam1 |
T |
A |
6: 24,800,565 (GRCm39) |
C435S |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,125,157 (GRCm39) |
K2618E |
possibly damaging |
Het |
| Stbd1 |
A |
G |
5: 92,753,277 (GRCm39) |
T256A |
possibly damaging |
Het |
| Ttc39c |
T |
A |
18: 12,853,102 (GRCm39) |
|
probably null |
Het |
| Uba3 |
T |
C |
6: 97,161,811 (GRCm39) |
D440G |
probably benign |
Het |
| Ythdf1 |
A |
C |
2: 180,553,998 (GRCm39) |
S72R |
probably benign |
Het |
| Zfp770 |
T |
C |
2: 114,026,917 (GRCm39) |
E384G |
possibly damaging |
Het |
| Zfp979 |
G |
T |
4: 147,698,358 (GRCm39) |
T117K |
probably damaging |
Het |
|
| Other mutations in Rundc3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Rundc3a
|
APN |
11 |
102,284,602 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02206:Rundc3a
|
APN |
11 |
102,290,460 (GRCm39) |
nonsense |
probably null |
|
|
IGL02306:Rundc3a
|
APN |
11 |
102,291,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02838:Rundc3a
|
APN |
11 |
102,288,521 (GRCm39) |
splice site |
probably benign |
|
|
R0173:Rundc3a
|
UTSW |
11 |
102,289,071 (GRCm39) |
unclassified |
probably benign |
|
|
R1745:Rundc3a
|
UTSW |
11 |
102,291,739 (GRCm39) |
frame shift |
probably null |
|
|
R1746:Rundc3a
|
UTSW |
11 |
102,291,739 (GRCm39) |
frame shift |
probably null |
|
|
R2208:Rundc3a
|
UTSW |
11 |
102,292,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Rundc3a
|
UTSW |
11 |
102,288,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2994:Rundc3a
|
UTSW |
11 |
102,291,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Rundc3a
|
UTSW |
11 |
102,290,085 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3756:Rundc3a
|
UTSW |
11 |
102,290,085 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5519:Rundc3a
|
UTSW |
11 |
102,292,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5748:Rundc3a
|
UTSW |
11 |
102,290,225 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6361:Rundc3a
|
UTSW |
11 |
102,291,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Rundc3a
|
UTSW |
11 |
102,290,775 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6819:Rundc3a
|
UTSW |
11 |
102,289,287 (GRCm39) |
nonsense |
probably null |
|
|
R7324:Rundc3a
|
UTSW |
11 |
102,290,799 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7369:Rundc3a
|
UTSW |
11 |
102,290,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7437:Rundc3a
|
UTSW |
11 |
102,289,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Rundc3a
|
UTSW |
11 |
102,290,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7441:Rundc3a
|
UTSW |
11 |
102,290,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7542:Rundc3a
|
UTSW |
11 |
102,290,871 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7802:Rundc3a
|
UTSW |
11 |
102,290,835 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9144:Rundc3a
|
UTSW |
11 |
102,290,862 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9657:Rundc3a
|
UTSW |
11 |
102,291,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Rundc3a
|
UTSW |
11 |
102,291,817 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Rundc3a
|
UTSW |
11 |
102,289,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGATGCTCCAGAAGAGGC -3'
(R):5'- TTGGGTCATCTTTCCCTAGAGAC -3'
Sequencing Primer
(F):5'- TCCAGAAGAGGCCACGTC -3'
(R):5'- ATCTTTCCCTAGAGACCCGAGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation