Incidental Mutation 'R5748:Rundc3a'
| ID |
445881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rundc3a
|
| Ensembl Gene |
ENSMUSG00000006575 |
| Gene Name |
RUN domain containing 3A |
| Synonyms |
Rpip8, Rap2ip |
| MMRRC Submission |
043355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R5748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102290225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 189
(E189K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000155104]
[ENSMUST00000142097]
[ENSMUST00000134669]
|
| AlphaFold |
O08576 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006750
AA Change: E189K
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: E189K
| 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: E189K
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
AA Change: E189K
| 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: E184K
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
AA Change: E184K
| 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: E189K
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
AA Change: E189K
| 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: ENSMUST00000128331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132876
|
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.2883 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,739,447 (GRCm39) |
Q285R |
probably damaging |
Het |
| Acy1 |
T |
A |
9: 106,313,926 (GRCm39) |
N78I |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,249,230 (GRCm39) |
K166E |
probably damaging |
Het |
| C1qtnf4 |
A |
G |
2: 90,719,877 (GRCm39) |
D50G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 45,692,818 (GRCm39) |
T100A |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,406 (GRCm39) |
R143C |
probably damaging |
Het |
| Dhx16 |
T |
C |
17: 36,194,206 (GRCm39) |
L439P |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,898 (GRCm39) |
V257A |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,597,793 (GRCm39) |
L16Q |
probably null |
Het |
| Eml5 |
T |
A |
12: 98,791,814 (GRCm39) |
Y1234F |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,200,702 (GRCm39) |
D793G |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,751,778 (GRCm39) |
Y324H |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,112,591 (GRCm39) |
S852C |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,307,823 (GRCm39) |
T83A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,677 (GRCm39) |
L155P |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,759 (GRCm39) |
D107V |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,501,825 (GRCm39) |
H253Q |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,982,032 (GRCm39) |
Y30C |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,731,510 (GRCm39) |
R62H |
probably damaging |
Het |
| Mrgpra2b |
A |
G |
7: 47,152,280 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
A |
11: 6,548,370 (GRCm39) |
K1426* |
probably null |
Het |
| Ndufb6 |
A |
G |
4: 40,279,234 (GRCm39) |
L35S |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,809,581 (GRCm39) |
K260M |
probably damaging |
Het |
| Nkapl |
A |
G |
13: 21,651,779 (GRCm39) |
I278T |
probably benign |
Het |
| Nrbp2 |
T |
C |
15: 75,961,332 (GRCm39) |
E263G |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,471,338 (GRCm39) |
L110Q |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,293 (GRCm39) |
N141S |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,797,721 (GRCm39) |
I199T |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,314 (GRCm38) |
Y256C |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,498,146 (GRCm39) |
M28K |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,379 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,418,815 (GRCm39) |
I221F |
probably damaging |
Het |
| Polr2m |
C |
T |
9: 71,390,918 (GRCm39) |
D95N |
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,665 (GRCm39) |
D362V |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,758,855 (GRCm39) |
I308N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scaf1 |
A |
C |
7: 44,662,230 (GRCm39) |
|
probably null |
Het |
| Scaper |
T |
C |
9: 55,766,360 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
C |
T |
3: 144,418,410 (GRCm39) |
C51Y |
probably damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,391 (GRCm39) |
T90A |
probably benign |
Het |
| Slc17a3 |
T |
A |
13: 24,040,449 (GRCm39) |
S336T |
probably damaging |
Het |
| Slc41a2 |
C |
A |
10: 83,133,023 (GRCm39) |
C341F |
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,068,127 (GRCm39) |
*67W |
probably null |
Het |
| Stap2 |
C |
T |
17: 56,307,475 (GRCm39) |
|
probably null |
Het |
| Stt3a |
A |
T |
9: 36,663,696 (GRCm39) |
M182K |
probably benign |
Het |
| Tcfl5 |
G |
A |
2: 180,284,050 (GRCm39) |
|
silent |
Het |
| Tmx3 |
T |
C |
18: 90,555,225 (GRCm39) |
V314A |
probably benign |
Het |
| Upf1 |
A |
G |
8: 70,791,167 (GRCm39) |
L525P |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,452,981 (GRCm39) |
I301V |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,107,025 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
C |
13: 67,973,450 (GRCm39) |
Y160H |
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 |
|
|
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 |
|
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'- ATGACTCCGGAGCCATCATG -3'
(R):5'- CGTCAGGTAGTCGTAGCTTAGGAG -3'
Sequencing Primer
(F):5'- TCATGCTGCGGGAGGAAGC -3'
(R):5'- CGGGAGCAGTGGGTGGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation