Incidental Mutation 'R7802:Rundc3a'
| ID |
600577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rundc3a
|
| Ensembl Gene |
ENSMUSG00000006575 |
| Gene Name |
RUN domain containing 3A |
| Synonyms |
Rpip8, Rap2ip |
| MMRRC Submission |
045857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R7802 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102290835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 306
(E306G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000124755]
[ENSMUST00000130436]
[ENSMUST00000134669]
[ENSMUST00000142097]
[ENSMUST00000149777]
[ENSMUST00000154001]
[ENSMUST00000155104]
|
| AlphaFold |
O08576 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006750
AA Change: E306G
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: E306G
| 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 benign
Transcript: ENSMUST00000107102
AA Change: E306G
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
AA Change: E306G
| 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: E301G
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
AA Change: E301G
| 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: E306G
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
AA Change: E306G
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
320 |
N/A |
INTRINSIC |
|
| 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 |
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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,650,438 (GRCm39) |
V12A |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,165,518 (GRCm39) |
F983S |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,720,808 (GRCm39) |
I312T |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,439,632 (GRCm39) |
W711R |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 33,961,227 (GRCm39) |
F436L |
probably benign |
Het |
| Epha1 |
C |
T |
6: 42,338,875 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Ercc6 |
C |
A |
14: 32,239,260 (GRCm39) |
A116E |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,281,423 (GRCm39) |
E611G |
probably benign |
Het |
| Galnt16 |
T |
G |
12: 80,628,021 (GRCm39) |
I239S |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,175 (GRCm39) |
R76G |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,813,838 (GRCm39) |
Y2657C |
probably damaging |
Het |
| Mapkapk2 |
T |
C |
1: 130,984,639 (GRCm39) |
I238V |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,866,655 (GRCm39) |
S570P |
probably benign |
Het |
| Mrap |
C |
T |
16: 90,546,247 (GRCm39) |
T112M |
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,359,763 (GRCm39) |
Q403R |
probably benign |
Het |
| Nostrin |
T |
C |
2: 69,019,356 (GRCm39) |
V467A |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,710,119 (GRCm39) |
|
probably null |
Het |
| Parp16 |
A |
G |
9: 65,137,179 (GRCm39) |
N135S |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,211,137 (GRCm39) |
|
probably null |
Het |
| Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Psmc5 |
T |
C |
11: 106,152,538 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
T |
7: 97,310,979 (GRCm39) |
V570F |
|
Het |
| Serpinb6b |
C |
T |
13: 33,155,579 (GRCm39) |
|
|
Het |
| Setx |
A |
G |
2: 29,037,033 (GRCm39) |
T1173A |
probably benign |
Het |
| Slamf8 |
A |
G |
1: 172,415,677 (GRCm39) |
S54P |
probably damaging |
Het |
| Slc5a2 |
A |
C |
7: 127,870,970 (GRCm39) |
D570A |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 13,060,700 (GRCm39) |
Q7L |
possibly damaging |
Het |
| Stt3b |
G |
T |
9: 115,105,949 (GRCm39) |
S175R |
probably damaging |
Het |
| Taar6 |
T |
A |
10: 23,861,151 (GRCm39) |
I132F |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,689,500 (GRCm39) |
V2029A |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,880,401 (GRCm39) |
|
probably benign |
Het |
| Tmt1a |
A |
T |
15: 100,203,182 (GRCm39) |
N152I |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,013,758 (GRCm39) |
C336* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,768,015 (GRCm39) |
T3028M |
unknown |
Het |
| Vmn2r25 |
A |
T |
6: 123,828,791 (GRCm39) |
I161N |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,643,640 (GRCm39) |
C2394R |
|
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 |
|
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 |
|
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'- TCGCATTGTCTACGCACAG -3'
(R):5'- ATGTTTGGCAACCTCCACGG -3'
Sequencing Primer
(F):5'- CACAGAAGGTGCGCGGG -3'
(R):5'- CTCCACGGGATCTTGGGAAAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation