Incidental Mutation 'IGL01915:Rccd1'
| ID |
179919 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rccd1
|
| Ensembl Gene |
ENSMUSG00000038930 |
| Gene Name |
RCC1 domain containing 1 |
| Synonyms |
E430018M08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01915
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79944339-79974512 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 79969966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047362]
[ENSMUST00000047558]
[ENSMUST00000121882]
[ENSMUST00000123189]
[ENSMUST00000163812]
[ENSMUST00000173824]
[ENSMUST00000174172]
[ENSMUST00000174199]
|
| AlphaFold |
Q8BTU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047362
|
| SMART Domains |
Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
179 |
228 |
2.9e-17 |
PFAM |
|
Pfam:RCC1_2
|
215 |
244 |
1.3e-10 |
PFAM |
|
Pfam:RCC1
|
231 |
316 |
7.8e-9 |
PFAM |
|
Pfam:RCC1_2
|
303 |
332 |
3.3e-10 |
PFAM |
|
Pfam:RCC1
|
319 |
370 |
4.1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047558
|
| SMART Domains |
Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
22 |
36 |
1.45e-5 |
PROSPERO |
|
Pfam:MAP65_ASE1
|
37 |
602 |
5.3e-172 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121882
|
| SMART Domains |
Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
179 |
228 |
7.4e-18 |
PFAM |
|
Pfam:RCC1_2
|
216 |
244 |
5.5e-10 |
PFAM |
|
Pfam:RCC1_2
|
304 |
332 |
6.2e-10 |
PFAM |
|
Pfam:RCC1
|
319 |
370 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123109
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163812
|
| SMART Domains |
Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
22 |
36 |
1.51e-5 |
PROSPERO |
|
Pfam:MAP65_ASE1
|
37 |
605 |
1.9e-173 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173824
|
| SMART Domains |
Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
22 |
36 |
8.71e-6 |
PROSPERO |
|
Pfam:MAP65_ASE1
|
37 |
565 |
6e-168 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174172
|
| SMART Domains |
Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
34 |
615 |
2.9e-167 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174051
|
| SMART Domains |
Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
1 |
244 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174199
|
| SMART Domains |
Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
7 |
524 |
8.1e-158 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174111
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
T |
C |
13: 23,607,938 (GRCm39) |
E22G |
unknown |
Het |
| Aoc1l2 |
T |
A |
6: 48,908,582 (GRCm39) |
D527E |
probably damaging |
Het |
| Atp11b |
T |
G |
3: 35,885,612 (GRCm39) |
H668Q |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,938,715 (GRCm39) |
V2687D |
probably benign |
Het |
| Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
| Car12 |
G |
A |
9: 66,670,552 (GRCm39) |
A174T |
possibly damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,904,544 (GRCm39) |
L380P |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,784,813 (GRCm39) |
R214W |
unknown |
Het |
| Cyp2d26 |
T |
G |
15: 82,674,450 (GRCm39) |
R477S |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,853,780 (GRCm39) |
V541A |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,076,392 (GRCm39) |
F797I |
probably damaging |
Het |
| Dot1l |
A |
T |
10: 80,616,728 (GRCm39) |
N63I |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,874,357 (GRCm39) |
I772T |
probably benign |
Het |
| Nosip |
T |
A |
7: 44,726,283 (GRCm39) |
I230N |
probably damaging |
Het |
| Or2r3 |
A |
T |
6: 42,448,223 (GRCm39) |
D296E |
probably benign |
Het |
| Or4d11 |
A |
T |
19: 12,013,461 (GRCm39) |
L215Q |
probably damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,473 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or6c210 |
G |
A |
10: 129,496,519 (GRCm39) |
M281I |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,727,381 (GRCm39) |
|
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,425,907 (GRCm39) |
I879M |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,699,370 (GRCm39) |
S1031P |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Rsad1 |
A |
G |
11: 94,439,803 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,373,864 (GRCm39) |
C1132* |
probably null |
Het |
| Sema6d |
A |
G |
2: 124,500,491 (GRCm39) |
|
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,400,580 (GRCm39) |
N27D |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,189,599 (GRCm39) |
M462I |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,440,628 (GRCm39) |
T45A |
probably damaging |
Het |
| Usp21 |
T |
A |
1: 171,110,307 (GRCm39) |
Q489L |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r20 |
A |
G |
6: 123,370,924 (GRCm39) |
S519P |
possibly damaging |
Het |
|
| Other mutations in Rccd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02024:Rccd1
|
APN |
7 |
79,968,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02747:Rccd1
|
APN |
7 |
79,970,238 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02936:Rccd1
|
APN |
7 |
79,966,794 (GRCm39) |
missense |
probably damaging |
0.97 |
|
K3955:Rccd1
|
UTSW |
7 |
79,970,419 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0137:Rccd1
|
UTSW |
7 |
79,970,326 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0671:Rccd1
|
UTSW |
7 |
79,969,965 (GRCm39) |
unclassified |
probably benign |
|
|
R0909:Rccd1
|
UTSW |
7 |
79,968,799 (GRCm39) |
splice site |
probably null |
|
|
R1588:Rccd1
|
UTSW |
7 |
79,969,859 (GRCm39) |
nonsense |
probably null |
|
|
R1706:Rccd1
|
UTSW |
7 |
79,970,411 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1826:Rccd1
|
UTSW |
7 |
79,969,966 (GRCm39) |
unclassified |
probably benign |
|
|
R1934:Rccd1
|
UTSW |
7 |
79,970,272 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2983:Rccd1
|
UTSW |
7 |
79,970,276 (GRCm39) |
nonsense |
probably null |
|
|
R3861:Rccd1
|
UTSW |
7 |
79,970,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7387:Rccd1
|
UTSW |
7 |
79,970,350 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7967:Rccd1
|
UTSW |
7 |
79,968,657 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8338:Rccd1
|
UTSW |
7 |
79,970,618 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9116:Rccd1
|
UTSW |
7 |
79,970,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Rccd1
|
UTSW |
7 |
79,970,315 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2014-05-07 |
Incidental Mutation