Incidental Mutation 'R3756:Rundc3a'
| ID |
271449 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3756 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102290085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 175
(I175V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000155104]
[ENSMUST00000134669]
[ENSMUST00000142097]
|
| AlphaFold |
O08576 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006750
AA Change: I175V
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: I175V
| 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: I175V
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
AA Change: I175V
| 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: I170V
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
AA Change: I170V
| 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: I175V
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
AA Change: I175V
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142157
|
| 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: 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: 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: ENSMUST00000142097
|
| SMART Domains |
Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
63 |
2e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.1031 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
G |
15: 57,963,119 (GRCm39) |
C805R |
probably benign |
Het |
| Atf7ip |
T |
A |
6: 136,537,815 (GRCm39) |
N357K |
probably benign |
Het |
| Atp7a |
T |
A |
X: 105,145,449 (GRCm39) |
|
probably null |
Het |
| Cdc16 |
T |
C |
8: 13,827,609 (GRCm39) |
|
probably null |
Het |
| Cdh26 |
T |
A |
2: 178,111,794 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,495,566 (GRCm39) |
S273T |
probably damaging |
Het |
| Cyb5d1 |
G |
T |
11: 69,284,658 (GRCm39) |
R165S |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,030 (GRCm39) |
K546R |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,894,720 (GRCm39) |
V250E |
probably damaging |
Het |
| Dnm1l |
G |
T |
16: 16,139,476 (GRCm39) |
A406D |
possibly damaging |
Het |
| Efs |
G |
A |
14: 55,157,879 (GRCm39) |
|
probably benign |
Het |
| Ephb1 |
A |
C |
9: 101,918,238 (GRCm39) |
S424A |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,470,215 (GRCm39) |
T83A |
possibly damaging |
Het |
| Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm9970 |
G |
C |
5: 31,398,117 (GRCm39) |
|
probably benign |
Het |
| H2az2 |
A |
G |
11: 6,383,761 (GRCm39) |
V53A |
possibly damaging |
Het |
| Inpp5d |
G |
A |
1: 87,629,130 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,061,284 (GRCm39) |
S256P |
possibly damaging |
Het |
| Lrch4 |
T |
A |
5: 137,635,992 (GRCm39) |
D348E |
probably damaging |
Het |
| Mettl13 |
T |
C |
1: 162,371,789 (GRCm39) |
E360G |
probably damaging |
Het |
| Mtss2 |
C |
T |
8: 111,456,692 (GRCm39) |
S192L |
probably damaging |
Het |
| Myh8 |
G |
A |
11: 67,175,443 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,152,650 (GRCm39) |
Y666N |
probably benign |
Het |
| Pcdha8 |
G |
A |
18: 37,126,741 (GRCm39) |
V408M |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,878 (GRCm39) |
F615L |
probably damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,608,271 (GRCm39) |
L333P |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,942,526 (GRCm39) |
|
probably benign |
Het |
| Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
| Rbmx2 |
T |
A |
X: 47,797,890 (GRCm39) |
S143T |
possibly damaging |
Het |
| Rgl2 |
C |
A |
17: 34,151,571 (GRCm39) |
A205D |
probably benign |
Het |
| Rxra |
A |
C |
2: 27,631,923 (GRCm39) |
Q198P |
probably damaging |
Het |
| Slc25a36 |
A |
T |
9: 96,982,208 (GRCm39) |
Y42* |
probably null |
Het |
| Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,623 (GRCm39) |
L138P |
probably damaging |
Het |
| Trappc13 |
C |
T |
13: 104,305,068 (GRCm39) |
D40N |
probably benign |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,863 (GRCm39) |
S152G |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,135,982 (GRCm39) |
C109R |
possibly 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 |
|
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'- TTGTAAGGAAACAGGCATTGTG -3'
(R):5'- TGTGTAATCGATGACCACCGG -3'
Sequencing Primer
(F):5'- CAGGTGCTAGTTCCAGTGAGGTAC -3'
(R):5'- AATCGATGACCACCGGTGTCTTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation