Incidental Mutation 'R9144:Rundc3a'
| ID |
694510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rundc3a
|
| Ensembl Gene |
ENSMUSG00000006575 |
| Gene Name |
RUN domain containing 3A |
| Synonyms |
Rpip8, Rap2ip |
| MMRRC Submission |
068935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R9144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102290862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 315
(Q315L)
|
| 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: Q315L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: Q315L
| 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: Q315L
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
AA Change: Q315L
| 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: Q310L
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
AA Change: Q310L
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
120 |
182 |
2.34e-19 |
SMART |
|
coiled coil region
|
262 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107105
AA Change: Q315L
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
AA Change: Q315L
| 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 |
|
| Meta Mutation Damage Score |
0.1542 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
C |
T |
9: 44,192,708 (GRCm39) |
V176M |
possibly damaging |
Het |
| Acp5 |
T |
C |
9: 22,041,242 (GRCm39) |
T62A |
probably benign |
Het |
| Alad |
A |
T |
4: 62,430,257 (GRCm39) |
D88E |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,047,602 (GRCm39) |
I803T |
probably damaging |
Het |
| Bckdhb |
C |
A |
9: 83,894,662 (GRCm39) |
T312K |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,722,667 (GRCm39) |
V138A |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,978,512 (GRCm39) |
Y176C |
probably damaging |
Het |
| Creld1 |
A |
T |
6: 113,461,468 (GRCm39) |
T63S |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,218,639 (GRCm39) |
T878I |
possibly damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,018,463 (GRCm39) |
R873H |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,935,564 (GRCm39) |
V466A |
possibly damaging |
Het |
| Ercc5 |
T |
A |
1: 44,213,511 (GRCm39) |
Y836N |
probably damaging |
Het |
| Fgf20 |
T |
C |
8: 40,732,958 (GRCm39) |
D160G |
|
Het |
| Fgfr4 |
A |
T |
13: 55,315,837 (GRCm39) |
|
probably null |
Het |
| Fpr1 |
A |
T |
17: 18,097,626 (GRCm39) |
V121D |
probably damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,362,049 (GRCm39) |
K218E |
probably benign |
Het |
| Galnt12 |
T |
C |
4: 47,113,822 (GRCm39) |
L372P |
|
Het |
| Gldc |
A |
G |
19: 30,114,593 (GRCm39) |
F439S |
|
Het |
| Gm6465 |
A |
G |
5: 11,896,726 (GRCm39) |
T32A |
possibly damaging |
Het |
| Has2 |
T |
C |
15: 56,545,588 (GRCm39) |
R5G |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,317,599 (GRCm39) |
Y366C |
probably damaging |
Het |
| Ier2 |
C |
T |
8: 85,389,266 (GRCm39) |
V39I |
probably benign |
Het |
| Ifi214 |
A |
G |
1: 173,355,434 (GRCm39) |
S125P |
possibly damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,451 (GRCm39) |
D230G |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,927,558 (GRCm39) |
Y140F |
probably benign |
Het |
| Klk1b11 |
T |
C |
7: 43,427,055 (GRCm39) |
V140A |
probably damaging |
Het |
| Klra5 |
C |
T |
6: 129,886,911 (GRCm39) |
C39Y |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,856,426 (GRCm39) |
I699M |
probably damaging |
Het |
| Mak |
C |
A |
13: 41,201,594 (GRCm39) |
E256* |
probably null |
Het |
| Mark3 |
C |
A |
12: 111,606,376 (GRCm39) |
N496K |
probably benign |
Het |
| Mex3c |
A |
G |
18: 73,723,397 (GRCm39) |
T497A |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,467,805 (GRCm39) |
I1160V |
possibly damaging |
Het |
| Notch1 |
T |
C |
2: 26,349,587 (GRCm39) |
T2518A |
probably benign |
Het |
| Nsg1 |
A |
G |
5: 38,302,088 (GRCm39) |
Y108H |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,960,103 (GRCm39) |
S3255P |
possibly damaging |
Het |
| Or5w18 |
A |
G |
2: 87,633,482 (GRCm39) |
T246A |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,162,496 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Ppp2r5e |
C |
T |
12: 75,506,468 (GRCm39) |
R433H |
possibly damaging |
Het |
| Pwwp2a |
T |
A |
11: 43,596,721 (GRCm39) |
C629S |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,473 (GRCm39) |
S56R |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,124 (GRCm39) |
V170A |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,003,900 (GRCm39) |
N1803K |
probably benign |
Het |
| Rmdn3 |
G |
T |
2: 118,969,847 (GRCm39) |
Q405K |
probably benign |
Het |
| Rpap3 |
G |
A |
15: 97,589,184 (GRCm39) |
T250M |
possibly damaging |
Het |
| Rraga |
T |
C |
4: 86,494,796 (GRCm39) |
I214T |
probably damaging |
Het |
| Sh3bgr |
T |
A |
16: 96,001,931 (GRCm39) |
S10T |
probably benign |
Het |
| Skint6 |
A |
T |
4: 112,985,102 (GRCm39) |
S421R |
possibly damaging |
Het |
| Spag16 |
G |
C |
1: 70,420,459 (GRCm39) |
L482F |
probably damaging |
Het |
| Sppl2a |
A |
G |
2: 126,769,743 (GRCm39) |
S38P |
probably benign |
Het |
| Tex14 |
T |
A |
11: 87,413,423 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
G |
A |
17: 6,346,048 (GRCm39) |
V181M |
possibly damaging |
Het |
| Traf3 |
T |
A |
12: 111,228,294 (GRCm39) |
S502T |
probably benign |
Het |
| Trav9n-4 |
T |
G |
14: 53,532,236 (GRCm39) |
V30G |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,765,122 (GRCm39) |
V960L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,173,649 (GRCm39) |
D1492E |
unknown |
Het |
| Usp44 |
A |
G |
10: 93,681,645 (GRCm39) |
T32A |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,612 (GRCm39) |
M168T |
probably benign |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,788 (GRCm39) |
I288V |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,676,794 (GRCm39) |
T2615A |
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 |
|
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 |
|
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'- TTTCGCATTGTCTACGCACAG -3'
(R):5'- AGCTGATGGGTATTGGAAGC -3'
Sequencing Primer
(F):5'- TCCAGCTGGGACCCCTTTG -3'
(R):5'- AAGCTGCGGGGGATCTTAATG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation