Incidental Mutation 'IGL02306:Rundc3a'
ID |
287599 |
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 # |
IGL02306
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 102291764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 387
(L387Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000142097]
[ENSMUST00000149777]
[ENSMUST00000130436]
[ENSMUST00000134669]
[ENSMUST00000124755]
[ENSMUST00000155104]
[ENSMUST00000154001]
|
AlphaFold |
O08576 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006750
AA Change: L379Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006750 Gene: ENSMUSG00000006575 AA Change: L379Q
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 damaging
Transcript: ENSMUST00000107102
AA Change: L379Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102719 Gene: ENSMUSG00000006575 AA Change: L379Q
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: L374Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102720 Gene: ENSMUSG00000006575 AA Change: L374Q
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: L387Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102722 Gene: ENSMUSG00000006575 AA Change: L387Q
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: ENSMUST00000123688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132876
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147860
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147160
|
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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000153395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183859
|
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 |
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,952,044 (GRCm39) |
Y680C |
probably damaging |
Het |
Abcb11 |
C |
T |
2: 69,095,801 (GRCm39) |
W846* |
probably null |
Het |
Adam34 |
G |
A |
8: 44,103,522 (GRCm39) |
R708C |
probably benign |
Het |
Adam6a |
T |
A |
12: 113,509,343 (GRCm39) |
L572Q |
possibly damaging |
Het |
Aldoart2 |
A |
G |
12: 55,612,489 (GRCm39) |
Y138C |
probably damaging |
Het |
Amigo1 |
T |
A |
3: 108,095,302 (GRCm39) |
F267Y |
probably benign |
Het |
Car7 |
A |
G |
8: 105,275,630 (GRCm39) |
Y137C |
probably damaging |
Het |
Ccar2 |
A |
T |
14: 70,379,471 (GRCm39) |
M509K |
probably benign |
Het |
Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
Cmya5 |
C |
T |
13: 93,234,527 (GRCm39) |
G187D |
probably damaging |
Het |
Crot |
A |
T |
5: 9,018,701 (GRCm39) |
V555E |
possibly damaging |
Het |
Cstf1 |
C |
T |
2: 172,214,891 (GRCm39) |
T4I |
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,732,008 (GRCm39) |
K250E |
probably damaging |
Het |
Deaf1 |
T |
C |
7: 140,904,094 (GRCm39) |
|
probably null |
Het |
Dse |
C |
T |
10: 34,036,130 (GRCm39) |
E249K |
probably damaging |
Het |
E4f1 |
G |
T |
17: 24,665,903 (GRCm39) |
R88S |
probably damaging |
Het |
Fam83a |
A |
C |
15: 57,858,704 (GRCm39) |
D248A |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,826,437 (GRCm39) |
D217G |
probably benign |
Het |
Hadhb |
T |
A |
5: 30,371,747 (GRCm39) |
L66Q |
probably null |
Het |
Kalrn |
T |
C |
16: 34,130,897 (GRCm39) |
E440G |
probably damaging |
Het |
Kif3b |
A |
G |
2: 153,162,572 (GRCm39) |
Y527C |
probably damaging |
Het |
Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
Krtap29-1 |
A |
T |
11: 99,869,092 (GRCm39) |
V263E |
probably damaging |
Het |
Mms19 |
A |
G |
19: 41,954,703 (GRCm39) |
L72P |
probably damaging |
Het |
Mylpf |
T |
A |
7: 126,812,330 (GRCm39) |
|
probably benign |
Het |
Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
Nedd4l |
T |
G |
18: 65,306,025 (GRCm39) |
S292R |
possibly damaging |
Het |
Nlrc3 |
A |
C |
16: 3,782,688 (GRCm39) |
D240E |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,890,497 (GRCm39) |
I7345N |
unknown |
Het |
Or4c102 |
A |
T |
2: 88,422,950 (GRCm39) |
K267N |
probably benign |
Het |
Ostn |
A |
T |
16: 27,165,691 (GRCm39) |
S127C |
probably damaging |
Het |
Patl1 |
A |
G |
19: 11,920,250 (GRCm39) |
K735E |
possibly damaging |
Het |
Pde12 |
A |
G |
14: 26,389,533 (GRCm39) |
L392P |
possibly damaging |
Het |
Plxdc2 |
A |
G |
2: 16,665,585 (GRCm39) |
I213V |
probably benign |
Het |
Plxna4 |
T |
A |
6: 32,183,059 (GRCm39) |
Y948F |
probably benign |
Het |
Prlhr |
A |
T |
19: 60,456,353 (GRCm39) |
V71E |
probably damaging |
Het |
Prlr |
C |
T |
15: 10,328,760 (GRCm39) |
P412S |
probably benign |
Het |
Prmt9 |
A |
G |
8: 78,287,447 (GRCm39) |
K196R |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,664,459 (GRCm39) |
I1611V |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,677,744 (GRCm39) |
|
probably null |
Het |
Scart1 |
T |
C |
7: 139,803,269 (GRCm39) |
C278R |
probably damaging |
Het |
Sfxn2 |
T |
A |
19: 46,578,987 (GRCm39) |
M240K |
probably damaging |
Het |
Skor2 |
T |
C |
18: 76,950,374 (GRCm39) |
S901P |
probably benign |
Het |
Smad4 |
T |
C |
18: 73,795,940 (GRCm39) |
|
probably null |
Het |
Snrnp40 |
T |
G |
4: 130,258,893 (GRCm39) |
C100W |
probably benign |
Het |
Spink5 |
T |
A |
18: 44,097,511 (GRCm39) |
D19E |
probably damaging |
Het |
Sult1d1 |
T |
A |
5: 87,703,914 (GRCm39) |
|
probably benign |
Het |
Wdr59 |
G |
A |
8: 112,219,365 (GRCm39) |
L231F |
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 |
|
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 |
2015-04-16 |