Incidental Mutation 'R6361:Rundc3a'
| ID |
513130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rundc3a
|
| Ensembl Gene |
ENSMUSG00000006575 |
| Gene Name |
RUN domain containing 3A |
| Synonyms |
Rpip8, Rap2ip |
| MMRRC Submission |
044511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R6361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102291621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 358
(R358Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000130436]
[ENSMUST00000142097]
[ENSMUST00000124755]
[ENSMUST00000149777]
[ENSMUST00000134669]
[ENSMUST00000155104]
[ENSMUST00000154001]
|
| AlphaFold |
O08576 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006750
AA Change: R363Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: R363Q
| 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 damaging
Transcript: ENSMUST00000107102
AA Change: R363Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
AA Change: R363Q
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107103
AA Change: R358Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
AA Change: R358Q
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
120 |
182 |
2.34e-19 |
SMART |
|
coiled coil region
|
262 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107105
AA Change: R371Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
AA Change: R371Q
| 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 |
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 |
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: ENSMUST00000128331
|
| 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: ENSMUST00000134669
|
| SMART Domains |
Protein: ENSMUSP00000114481
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
69 |
1.9e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147860
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000153395
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000150982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183859
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap1 |
C |
T |
15: 64,221,672 (GRCm39) |
|
probably null |
Het |
| Cabin1 |
G |
A |
10: 75,562,699 (GRCm39) |
A29V |
possibly damaging |
Het |
| Cadps |
G |
A |
14: 12,491,778 (GRCm38) |
Q791* |
probably null |
Het |
| Cdc14b |
T |
C |
13: 64,364,023 (GRCm39) |
|
probably null |
Het |
| Cep89 |
C |
T |
7: 35,097,472 (GRCm39) |
P33S |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,807,661 (GRCm39) |
|
probably benign |
Het |
| Cln5 |
T |
A |
14: 103,313,637 (GRCm39) |
D296E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,943,902 (GRCm39) |
S1191T |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,832,455 (GRCm39) |
I480M |
probably damaging |
Het |
| Dhrs7 |
A |
C |
12: 72,711,433 (GRCm39) |
L32V |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,424,011 (GRCm39) |
T1645A |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,885,622 (GRCm39) |
T55A |
possibly damaging |
Het |
| Ercc6 |
T |
C |
14: 32,239,067 (GRCm39) |
Y52H |
probably benign |
Het |
| Fam170b |
C |
A |
14: 32,558,028 (GRCm39) |
Q288K |
unknown |
Het |
| Flt4 |
A |
G |
11: 49,521,405 (GRCm39) |
T442A |
probably benign |
Het |
| Gm19402 |
A |
T |
10: 77,525,895 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,832 (GRCm39) |
I87T |
probably damaging |
Het |
| Hspb7 |
A |
G |
4: 141,149,860 (GRCm39) |
E82G |
possibly damaging |
Het |
| Itgb3 |
A |
G |
11: 104,556,408 (GRCm39) |
K750E |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,679,655 (GRCm39) |
M155V |
probably benign |
Het |
| Marchf8 |
A |
T |
6: 116,379,062 (GRCm39) |
D332V |
probably null |
Het |
| Mst1r |
A |
G |
9: 107,793,052 (GRCm39) |
M1042V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,587,725 (GRCm39) |
F2756L |
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,333,078 (GRCm39) |
K55* |
probably null |
Het |
| Or1j19 |
A |
G |
2: 36,676,792 (GRCm39) |
N85S |
probably damaging |
Het |
| Or4c123 |
A |
T |
2: 89,126,990 (GRCm39) |
I208N |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,940 (GRCm39) |
L115F |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,027 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g50 |
A |
C |
9: 39,648,968 (GRCm39) |
N286H |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
| Pkd2 |
C |
T |
5: 104,634,546 (GRCm39) |
R526* |
probably null |
Het |
| Polr2a |
C |
A |
11: 69,634,163 (GRCm39) |
A756S |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,581,579 (GRCm39) |
S145P |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,162,915 (GRCm39) |
N451D |
possibly damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,972,695 (GRCm39) |
D676V |
probably benign |
Het |
| Spef1l |
T |
A |
7: 139,556,585 (GRCm39) |
D134V |
possibly damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,610 (GRCm39) |
K339E |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,493,052 (GRCm39) |
I723T |
probably benign |
Het |
| Vwa2 |
A |
T |
19: 56,889,958 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
C |
1: 63,342,480 (GRCm39) |
R286S |
possibly damaging |
Het |
| Zfp422 |
G |
A |
6: 116,603,781 (GRCm39) |
H73Y |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,564 (GRCm39) |
H257R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,775,175 (GRCm39) |
S1723G |
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 |
|
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'- AGTTTCCGTCCTAAGCCCTG -3'
(R):5'- TTCTGAAGTGCCAAGGTGG -3'
Sequencing Primer
(F):5'- ACCTTTGCTGAGTCTCGC -3'
(R):5'- TGTGCTCACCGATGGGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation