Incidental Mutation 'IGL01150:Rundc3a'
| ID |
52397 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rundc3a
|
| Ensembl Gene |
ENSMUSG00000006575 |
| Gene Name |
RUN domain containing 3A |
| Synonyms |
Rpip8, Rap2ip |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL01150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102284602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 34
(V34A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
|
| AlphaFold |
O08576 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006750
AA Change: V34A
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: V34A
| 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: ENSMUST00000107102
AA Change: V34A
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
AA Change: V34A
| 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
AA Change: V34A
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
AA Change: V34A
| 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
AA Change: V34A
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
AA Change: V34A
| 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: ENSMUST00000146330
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,550 (GRCm39) |
D507G |
possibly damaging |
Het |
| Actl6a |
A |
G |
3: 32,766,313 (GRCm39) |
I60V |
probably benign |
Het |
| Adra2c |
T |
C |
5: 35,438,485 (GRCm39) |
F419S |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,918,618 (GRCm39) |
Y105C |
probably damaging |
Het |
| Arid4b |
C |
T |
13: 14,369,959 (GRCm39) |
Q1152* |
probably null |
Het |
| Arsj |
A |
G |
3: 126,232,433 (GRCm39) |
D393G |
probably benign |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,905,598 (GRCm39) |
V390I |
possibly damaging |
Het |
| Ccdc25 |
T |
A |
14: 66,097,651 (GRCm39) |
M195K |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,878,931 (GRCm39) |
S979T |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,269,630 (GRCm39) |
F390S |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,969,583 (GRCm39) |
V290A |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,759,927 (GRCm39) |
L188P |
probably damaging |
Het |
| Galt |
T |
C |
4: 41,757,786 (GRCm39) |
|
probably benign |
Het |
| Gm12830 |
C |
T |
4: 114,702,261 (GRCm39) |
T141I |
unknown |
Het |
| Herc2 |
T |
A |
7: 55,830,881 (GRCm39) |
W2965R |
probably damaging |
Het |
| Hrg |
A |
G |
16: 22,777,909 (GRCm39) |
|
probably null |
Het |
| Ighv8-5 |
T |
C |
12: 115,031,194 (GRCm39) |
Y115C |
probably damaging |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,127 (GRCm39) |
V14A |
probably benign |
Het |
| Nav2 |
A |
C |
7: 49,102,269 (GRCm39) |
T295P |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,593,472 (GRCm39) |
V719A |
probably benign |
Het |
| Nrg1 |
G |
A |
8: 32,407,903 (GRCm39) |
T110I |
probably damaging |
Het |
| Or4c31 |
T |
C |
2: 88,292,419 (GRCm39) |
V264A |
possibly damaging |
Het |
| Or51h1 |
A |
C |
7: 102,308,699 (GRCm39) |
K224Q |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,535 (GRCm39) |
I214N |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,726,926 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
T |
C |
11: 106,668,258 (GRCm39) |
|
probably null |
Het |
| Ptges |
G |
T |
2: 30,782,720 (GRCm39) |
R111S |
probably damaging |
Het |
| Rbbp4 |
T |
C |
4: 129,216,668 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
C |
A |
2: 65,327,709 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
T |
C |
11: 4,026,238 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,534,047 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
A |
4: 58,070,302 (GRCm39) |
I2495F |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,393,154 (GRCm39) |
S71P |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem161b |
C |
T |
13: 84,440,526 (GRCm39) |
R133* |
probably null |
Het |
| Tnnc2 |
A |
T |
2: 164,619,753 (GRCm39) |
I71N |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,875,845 (GRCm39) |
N1554S |
probably benign |
Het |
| Wfdc3 |
A |
T |
2: 164,574,123 (GRCm39) |
|
probably benign |
Het |
| Zfp648 |
A |
T |
1: 154,081,110 (GRCm39) |
H423L |
probably damaging |
Het |
|
| Other mutations in Rundc3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation