Incidental Mutation 'IGL02206:Rundc3a'
ID |
284488 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02206
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
102284229-102293381 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 102290460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 217
(E217*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000149777]
[ENSMUST00000155104]
[ENSMUST00000130436]
[ENSMUST00000134669]
[ENSMUST00000142097]
|
AlphaFold |
O08576 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006750
AA Change: E217*
|
SMART Domains |
Protein: ENSMUSP00000006750 Gene: ENSMUSG00000006575 AA Change: E217*
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 null
Transcript: ENSMUST00000107102
AA Change: E217*
|
SMART Domains |
Protein: ENSMUSP00000102719 Gene: ENSMUSG00000006575 AA Change: E217*
Domain | Start | End | E-Value | Type |
RUN
|
125 |
187 |
2.34e-19 |
SMART |
coiled coil region
|
267 |
322 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107103
AA Change: E212*
|
SMART Domains |
Protein: ENSMUSP00000102720 Gene: ENSMUSG00000006575 AA Change: E212*
Domain | Start | End | E-Value | Type |
RUN
|
120 |
182 |
2.34e-19 |
SMART |
coiled coil region
|
262 |
317 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107105
AA Change: E217*
|
SMART Domains |
Protein: ENSMUSP00000102722 Gene: ENSMUSG00000006575 AA Change: E217*
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: ENSMUST00000142157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132876
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146330
|
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: 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: 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: 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
T |
11: 84,151,573 (GRCm39) |
K824* |
probably null |
Het |
Acot12 |
A |
G |
13: 91,908,106 (GRCm39) |
D96G |
probably damaging |
Het |
Acvr2b |
C |
T |
9: 119,257,064 (GRCm39) |
Q98* |
probably null |
Het |
Aldh8a1 |
T |
C |
10: 21,271,474 (GRCm39) |
V400A |
probably benign |
Het |
Aox1 |
C |
A |
1: 58,104,499 (GRCm39) |
H559N |
probably benign |
Het |
Arhgef18 |
T |
A |
8: 3,495,034 (GRCm39) |
I431N |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,985,009 (GRCm39) |
D32G |
probably damaging |
Het |
Cgas |
T |
C |
9: 78,350,362 (GRCm39) |
|
probably null |
Het |
Cmtm8 |
T |
C |
9: 114,672,967 (GRCm39) |
H10R |
probably benign |
Het |
Cnn1 |
T |
G |
9: 22,015,674 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Defb23 |
C |
A |
2: 152,306,455 (GRCm39) |
E20* |
probably null |
Het |
Dennd2a |
A |
T |
6: 39,500,383 (GRCm39) |
S61T |
probably damaging |
Het |
Fam13a |
A |
T |
6: 58,964,204 (GRCm39) |
I76K |
probably benign |
Het |
Fgd5 |
A |
G |
6: 91,964,239 (GRCm39) |
|
probably benign |
Het |
Flt4 |
A |
T |
11: 49,521,217 (GRCm39) |
R409W |
probably damaging |
Het |
Gramd1b |
T |
C |
9: 40,211,328 (GRCm39) |
T652A |
probably benign |
Het |
Grik1 |
C |
T |
16: 87,732,808 (GRCm39) |
G703D |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
Itpr1 |
A |
G |
6: 108,526,781 (GRCm39) |
N2743S |
probably damaging |
Het |
Klc1 |
A |
G |
12: 111,744,550 (GRCm39) |
|
probably benign |
Het |
Ndufa9 |
G |
A |
6: 126,821,366 (GRCm39) |
R75* |
probably null |
Het |
Neurl4 |
A |
G |
11: 69,801,166 (GRCm39) |
N1181S |
probably damaging |
Het |
Or5an9 |
T |
C |
19: 12,187,824 (GRCm39) |
I298T |
probably damaging |
Het |
Phf1 |
A |
G |
17: 27,155,843 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,376,245 (GRCm39) |
I969T |
probably benign |
Het |
Pprc1 |
G |
A |
19: 46,060,190 (GRCm39) |
R1538Q |
probably damaging |
Het |
Rasd1 |
C |
T |
11: 59,854,778 (GRCm39) |
G234D |
possibly damaging |
Het |
Rnf152 |
T |
C |
1: 105,212,549 (GRCm39) |
T3A |
probably benign |
Het |
Rrh |
C |
T |
3: 129,605,346 (GRCm39) |
V115I |
probably benign |
Het |
Sae1 |
A |
T |
7: 16,064,581 (GRCm39) |
V306E |
possibly damaging |
Het |
Serpinb7 |
T |
C |
1: 107,363,102 (GRCm39) |
S89P |
possibly damaging |
Het |
Serpinb9h |
A |
G |
13: 33,588,182 (GRCm39) |
T256A |
probably damaging |
Het |
Sgo2b |
T |
A |
8: 64,394,118 (GRCm39) |
T74S |
possibly damaging |
Het |
Slc5a7 |
T |
C |
17: 54,604,022 (GRCm39) |
D48G |
probably damaging |
Het |
Stn1 |
T |
C |
19: 47,504,612 (GRCm39) |
M177V |
possibly damaging |
Het |
Tgm1 |
T |
C |
14: 55,942,392 (GRCm39) |
E653G |
possibly damaging |
Het |
Thsd4 |
T |
C |
9: 60,301,398 (GRCm39) |
K299R |
probably benign |
Het |
Ttc22 |
A |
G |
4: 106,493,186 (GRCm39) |
T278A |
probably damaging |
Het |
Ubl4b |
G |
T |
3: 107,462,141 (GRCm39) |
Q40K |
possibly damaging |
Het |
Zfp677 |
A |
G |
17: 21,613,499 (GRCm39) |
D31G |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |