Incidental Mutation 'R6722:Rundc3a'
ID |
529650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rundc3a
|
Ensembl Gene |
ENSMUSG00000006575 |
Gene Name |
RUN domain containing 3A |
Synonyms |
Rpip8, Rap2ip |
MMRRC Submission |
044840-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R6722 (G1)
|
Quality Score |
107.008 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102290775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 281
(N281S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102720
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000134669]
[ENSMUST00000130436]
[ENSMUST00000142097]
[ENSMUST00000149777]
[ENSMUST00000124755]
[ENSMUST00000154001]
[ENSMUST00000155104]
|
AlphaFold |
O08576 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006750
AA Change: N286S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000006750 Gene: ENSMUSG00000006575 AA Change: N286S
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 |
possibly damaging
Transcript: ENSMUST00000107102
AA Change: N286S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102719 Gene: ENSMUSG00000006575 AA Change: N286S
Domain | Start | End | E-Value | Type |
RUN
|
125 |
187 |
2.34e-19 |
SMART |
coiled coil region
|
267 |
322 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107103
AA Change: N281S
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102720 Gene: ENSMUSG00000006575 AA Change: N281S
Domain | Start | End | E-Value | Type |
RUN
|
120 |
182 |
2.34e-19 |
SMART |
coiled coil region
|
262 |
317 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107105
AA Change: N286S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102722 Gene: ENSMUSG00000006575 AA Change: N286S
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: ENSMUST00000131219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142157
|
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: 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: ENSMUST00000153395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150982
|
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 |
noncoding transcript
Transcript: ENSMUST00000132876
|
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 |
noncoding transcript
Transcript: ENSMUST00000146330
|
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: ENSMUST00000141535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183859
|
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 |
0.0713 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
T |
G |
12: 81,468,228 (GRCm39) |
D131A |
probably damaging |
Het |
Ank3 |
T |
C |
10: 69,826,074 (GRCm39) |
|
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,085,617 (GRCm39) |
|
probably benign |
Het |
Bmal2 |
T |
A |
6: 146,720,398 (GRCm39) |
D187E |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,164,458 (GRCm39) |
S140P |
probably benign |
Het |
Ccdc162 |
T |
C |
10: 41,520,637 (GRCm39) |
N673S |
probably benign |
Het |
Cd84 |
G |
A |
1: 171,700,344 (GRCm39) |
V154M |
probably damaging |
Het |
Celsr1 |
C |
A |
15: 85,790,115 (GRCm39) |
|
probably null |
Het |
Cfap57 |
A |
C |
4: 118,441,914 (GRCm39) |
L718R |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 100,406,211 (GRCm39) |
V803M |
probably damaging |
Het |
Col6a2 |
C |
T |
10: 76,450,392 (GRCm39) |
V180I |
probably damaging |
Het |
Coq4 |
A |
T |
2: 29,678,297 (GRCm39) |
|
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,012,983 (GRCm39) |
T389A |
probably benign |
Het |
Dennd1c |
T |
C |
17: 57,373,802 (GRCm39) |
D587G |
probably benign |
Het |
Dnaja4 |
A |
G |
9: 54,607,038 (GRCm39) |
D9G |
probably damaging |
Het |
Hes2 |
T |
G |
4: 152,244,834 (GRCm39) |
L101R |
probably damaging |
Het |
Icam2 |
A |
G |
11: 106,273,307 (GRCm39) |
S2P |
probably damaging |
Het |
Krt31 |
A |
G |
11: 99,939,254 (GRCm39) |
L221P |
probably damaging |
Het |
Lipm |
A |
T |
19: 34,098,665 (GRCm39) |
N380Y |
probably benign |
Het |
Lrp2bp |
G |
A |
8: 46,473,600 (GRCm39) |
|
probably null |
Het |
Mbd2 |
T |
A |
18: 70,713,819 (GRCm39) |
M216K |
probably damaging |
Het |
Mrps33 |
T |
C |
6: 39,782,599 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,462,060 (GRCm39) |
D1459G |
probably damaging |
Het |
Ncapd3 |
T |
C |
9: 26,998,852 (GRCm39) |
S1281P |
probably benign |
Het |
Nt5c1b |
T |
A |
12: 10,422,874 (GRCm39) |
Y56N |
possibly damaging |
Het |
Nthl1 |
A |
G |
17: 24,853,008 (GRCm39) |
K71E |
probably benign |
Het |
Or4f62 |
T |
A |
2: 111,987,227 (GRCm39) |
N310K |
probably benign |
Het |
Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
Pde4a |
G |
A |
9: 21,122,521 (GRCm39) |
A806T |
probably damaging |
Het |
Pde4d |
C |
A |
13: 109,769,432 (GRCm39) |
S40* |
probably null |
Het |
Pde4dip |
G |
A |
3: 97,625,555 (GRCm39) |
R1348* |
probably null |
Het |
Pdx1 |
C |
T |
5: 147,207,310 (GRCm39) |
P88S |
probably damaging |
Het |
Pnisr |
T |
A |
4: 21,859,165 (GRCm39) |
V120D |
probably damaging |
Het |
Prss51 |
G |
T |
14: 64,332,508 (GRCm39) |
C65F |
probably damaging |
Het |
Pus10 |
G |
A |
11: 23,652,975 (GRCm39) |
E195K |
possibly damaging |
Het |
Pzp |
T |
A |
6: 128,464,917 (GRCm39) |
Q1319L |
probably damaging |
Het |
Rbpms |
G |
T |
8: 34,324,421 (GRCm39) |
T101K |
probably damaging |
Het |
Scml4 |
C |
T |
10: 42,736,728 (GRCm39) |
|
probably benign |
Het |
Sez6 |
T |
C |
11: 77,844,528 (GRCm39) |
V117A |
probably damaging |
Het |
Sgsm2 |
A |
C |
11: 74,756,250 (GRCm39) |
C366W |
probably damaging |
Het |
Slc12a4 |
T |
C |
8: 106,670,882 (GRCm39) |
|
probably null |
Het |
Smg5 |
C |
T |
3: 88,260,332 (GRCm39) |
R641C |
probably damaging |
Het |
Stxbp3 |
A |
G |
3: 108,723,762 (GRCm39) |
Y150H |
probably benign |
Het |
Thoc2l |
T |
A |
5: 104,668,145 (GRCm39) |
M889K |
probably damaging |
Het |
Tkt |
T |
C |
14: 30,291,041 (GRCm39) |
F351S |
probably damaging |
Het |
Tln1 |
A |
G |
4: 43,547,618 (GRCm39) |
L781P |
probably damaging |
Het |
Triobp |
G |
A |
15: 78,885,765 (GRCm39) |
E1823K |
probably damaging |
Het |
Ttll4 |
T |
C |
1: 74,720,948 (GRCm39) |
V538A |
possibly damaging |
Het |
Uba52rt |
A |
G |
4: 3,973,386 (GRCm39) |
Y59H |
probably benign |
Het |
Vmn1r61 |
T |
A |
7: 5,613,687 (GRCm39) |
N209I |
possibly damaging |
Het |
Wdr75 |
T |
A |
1: 45,844,512 (GRCm39) |
|
probably null |
Het |
Zfp985 |
T |
C |
4: 147,667,528 (GRCm39) |
V132A |
probably benign |
Het |
Zswim3 |
T |
A |
2: 164,662,544 (GRCm39) |
|
probably null |
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 |
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'- GTCACCGATGAAGACAGTTGG -3'
(R):5'- TGGGTGTCATCAGAAAAGCG -3'
Sequencing Primer
(F):5'- TTCGCATTGTCTACGCACAGAAG -3'
(R):5'- GGTGTCATCAGAAAAGCGATCCC -3'
|
Posted On |
2018-08-01 |