Incidental Mutation 'R1745:Rundc3a'
ID |
193941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rundc3a
|
Ensembl Gene |
ENSMUSG00000006575 |
Gene Name |
RUN domain containing 3A |
Synonyms |
Rpip8, Rap2ip |
MMRRC Submission |
039777-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R1745 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GAGCC to GAGCCAGCC
at 102291739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000134669]
[ENSMUST00000149777]
[ENSMUST00000124755]
[ENSMUST00000130436]
[ENSMUST00000142097]
[ENSMUST00000154001]
[ENSMUST00000155104]
|
AlphaFold |
O08576 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006750
|
SMART Domains |
Protein: ENSMUSP00000006750 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: 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 null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000123688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132876
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147860
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131219
|
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: 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: 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: 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: 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: ENSMUST00000142097
|
SMART Domains |
Protein: ENSMUSP00000114365 Gene: ENSMUSG00000018677
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
7 |
63 |
2e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153395
|
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,623,359 (GRCm39) |
V851E |
probably benign |
Het |
Adam28 |
A |
G |
14: 68,870,620 (GRCm39) |
I351T |
probably benign |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,556,369 (GRCm39) |
E285G |
probably damaging |
Het |
Arfgef1 |
A |
C |
1: 10,243,480 (GRCm39) |
I1023R |
probably damaging |
Het |
Atp2c2 |
G |
A |
8: 120,451,833 (GRCm39) |
V133I |
probably benign |
Het |
Bpifb6 |
A |
G |
2: 153,753,403 (GRCm39) |
T401A |
possibly damaging |
Het |
Capn3 |
G |
A |
2: 120,320,170 (GRCm39) |
V283M |
possibly damaging |
Het |
Chd6 |
A |
T |
2: 160,823,587 (GRCm39) |
V1261E |
probably damaging |
Het |
Col22a1 |
C |
T |
15: 71,878,636 (GRCm39) |
A174T |
probably damaging |
Het |
Crnn |
T |
C |
3: 93,054,198 (GRCm39) |
V27A |
probably benign |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dgkd |
T |
C |
1: 87,859,766 (GRCm39) |
|
probably null |
Het |
Diaph3 |
A |
G |
14: 87,203,996 (GRCm39) |
L554P |
probably damaging |
Het |
Ephb4 |
A |
T |
5: 137,358,696 (GRCm39) |
H293L |
probably benign |
Het |
Erbin |
G |
T |
13: 103,975,957 (GRCm39) |
H646N |
probably damaging |
Het |
Faiml |
T |
C |
9: 99,116,511 (GRCm39) |
N60D |
probably benign |
Het |
Fem1al |
A |
G |
11: 29,774,723 (GRCm39) |
S245P |
probably benign |
Het |
Flot1 |
A |
G |
17: 36,135,552 (GRCm39) |
E102G |
probably damaging |
Het |
Fryl |
G |
A |
5: 73,190,204 (GRCm39) |
|
probably benign |
Het |
Gad1-ps |
A |
T |
10: 99,281,386 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c3 |
A |
G |
1: 54,473,371 (GRCm39) |
S81P |
probably damaging |
Het |
Hs1bp3 |
C |
T |
12: 8,371,690 (GRCm39) |
Q91* |
probably null |
Het |
Igf1r |
T |
C |
7: 67,819,661 (GRCm39) |
C324R |
probably damaging |
Het |
Il23r |
G |
A |
6: 67,443,275 (GRCm39) |
T276I |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Kctd1 |
A |
T |
18: 15,196,263 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,285,275 (GRCm39) |
M539K |
possibly damaging |
Het |
Man2b1 |
T |
A |
8: 85,820,563 (GRCm39) |
F617I |
probably damaging |
Het |
Med15 |
G |
A |
16: 17,473,570 (GRCm39) |
|
probably benign |
Het |
Myo9b |
A |
G |
8: 71,806,691 (GRCm39) |
K1543R |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,948,165 (GRCm39) |
Y265C |
probably benign |
Het |
N4bp2l2 |
A |
T |
5: 150,585,424 (GRCm39) |
N185K |
probably benign |
Het |
Nkx2-1 |
A |
G |
12: 56,580,529 (GRCm39) |
M137T |
probably benign |
Het |
Or51q1c |
A |
G |
7: 103,653,270 (GRCm39) |
T269A |
probably benign |
Het |
Prickle2 |
A |
T |
6: 92,353,574 (GRCm39) |
Y631N |
probably damaging |
Het |
Ptpro |
A |
G |
6: 137,377,643 (GRCm39) |
T698A |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,648,059 (GRCm39) |
I690V |
probably benign |
Het |
Rnf44 |
G |
A |
13: 54,830,005 (GRCm39) |
R271W |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,805,153 (GRCm39) |
Y904H |
probably damaging |
Het |
Suz12 |
T |
C |
11: 79,912,922 (GRCm39) |
L322P |
probably damaging |
Het |
Tnfsf13 |
G |
A |
11: 69,575,973 (GRCm39) |
A38V |
probably benign |
Het |
Topbp1 |
G |
A |
9: 103,186,044 (GRCm39) |
R62H |
probably benign |
Het |
Tor1aip1 |
G |
T |
1: 155,906,180 (GRCm39) |
|
probably null |
Het |
Trpv4 |
A |
T |
5: 114,771,215 (GRCm39) |
V438E |
probably damaging |
Het |
Tsku |
A |
T |
7: 98,001,386 (GRCm39) |
V315E |
possibly damaging |
Het |
Ttc38 |
T |
C |
15: 85,717,373 (GRCm39) |
L16P |
probably damaging |
Het |
Vmn1r170 |
A |
G |
7: 23,305,759 (GRCm39) |
I54V |
probably damaging |
Het |
Vmn1r71 |
T |
C |
7: 10,482,196 (GRCm39) |
D98G |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,096,795 (GRCm39) |
D334E |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,682,494 (GRCm39) |
F3311Y |
unknown |
Het |
Zswim9 |
A |
G |
7: 13,003,482 (GRCm39) |
S123P |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCAAGTTTCCGTCCTAAGCCCTG -3'
(R):5'- ATGACACTAGAAAGCCGTTGCGCC -3'
Sequencing Primer
(F):5'- TAGTCAACCAGTGGCCCTC -3'
(R):5'- acaggtagaagaggtgggg -3'
|
Posted On |
2014-05-23 |