Incidental Mutation 'R2366:Rundc3a'
| ID |
246343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rundc3a
|
| Ensembl Gene |
ENSMUSG00000006575 |
| Gene Name |
RUN domain containing 3A |
| Synonyms |
Rpip8, Rap2ip |
| MMRRC Submission |
040347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R2366 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102288491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 68
(I68V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
|
| AlphaFold |
O08576 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006750
AA Change: I68V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: I68V
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107102
AA Change: I68V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
AA Change: I68V
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107103
AA Change: I68V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
AA Change: I68V
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
120 |
182 |
2.34e-19 |
SMART |
|
coiled coil region
|
262 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107105
AA Change: I68V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
AA Change: I68V
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142157
|
| Meta Mutation Damage Score |
0.1707 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630091E08Rik |
G |
A |
7: 98,192,949 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts5 |
C |
T |
16: 85,659,646 (GRCm39) |
G882D |
probably damaging |
Het |
| Arl6ip6 |
T |
C |
2: 53,082,379 (GRCm39) |
V82A |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,731,035 (GRCm39) |
I726N |
probably damaging |
Het |
| Cd38 |
T |
G |
5: 44,060,932 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,632,893 (GRCm39) |
G1457V |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Cyp2d12 |
T |
A |
15: 82,439,355 (GRCm39) |
L3Q |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Drc1 |
A |
G |
5: 30,523,894 (GRCm39) |
*754W |
probably null |
Het |
| Erbin |
G |
A |
13: 103,981,417 (GRCm39) |
H503Y |
probably damaging |
Het |
| F3 |
G |
A |
3: 121,526,194 (GRCm39) |
|
probably null |
Het |
| Gm10033 |
A |
T |
8: 69,826,232 (GRCm39) |
M112K |
unknown |
Het |
| Gps1 |
A |
C |
11: 120,678,945 (GRCm39) |
I404L |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,903,648 (GRCm39) |
N1002S |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,080,236 (GRCm39) |
I571T |
probably benign |
Het |
| Knop1 |
C |
A |
7: 118,451,751 (GRCm39) |
V323F |
possibly damaging |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Lsm5 |
T |
C |
6: 56,680,003 (GRCm39) |
D53G |
probably damaging |
Het |
| Lzts1 |
T |
C |
8: 69,593,257 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
T |
18: 35,721,448 (GRCm39) |
N473I |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,052,008 (GRCm39) |
V452A |
probably damaging |
Het |
| Napsa |
T |
A |
7: 44,231,909 (GRCm39) |
D44E |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,290,511 (GRCm39) |
F1036S |
probably damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,384,349 (GRCm39) |
W270* |
probably null |
Het |
| Nherf1 |
G |
A |
11: 115,054,454 (GRCm39) |
V35M |
probably benign |
Het |
| Or5af1 |
C |
A |
11: 58,722,039 (GRCm39) |
Q20K |
probably benign |
Het |
| Pik3ca |
G |
A |
3: 32,516,943 (GRCm39) |
W1057* |
probably null |
Het |
| Pkd1l2 |
A |
T |
8: 117,770,056 (GRCm39) |
D1133E |
probably benign |
Het |
| Pramel39-ps |
T |
C |
5: 94,450,972 (GRCm39) |
K385E |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,894,079 (GRCm39) |
E122V |
probably damaging |
Het |
| Rest |
C |
A |
5: 77,416,034 (GRCm39) |
H83N |
probably benign |
Het |
| Stx6 |
A |
T |
1: 155,077,706 (GRCm39) |
I238L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqln3 |
C |
A |
7: 103,790,256 (GRCm39) |
Q611H |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,445,770 (GRCm39) |
H559Q |
probably benign |
Het |
| Vipr1 |
T |
G |
9: 121,494,250 (GRCm39) |
V277G |
probably benign |
Het |
| Zfp101 |
A |
T |
17: 33,599,972 (GRCm39) |
C595S |
probably benign |
Het |
| Zfp398 |
C |
T |
6: 47,840,143 (GRCm39) |
T124I |
possibly 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 |
|
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 |
|
R9356:Rundc3a
|
UTSW |
11 |
102,292,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCCTAGCCTGGAACCTTTCG -3'
(R):5'- ACAGAGGAAGTGCTGCATGC -3'
Sequencing Primer
(F):5'- ATGACCTCTTCTCGGGCG -3'
(R):5'- TGCATGCACAGCGATGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation