Incidental Mutation 'IGL02747:Rccd1'
| ID |
306086 |
| 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 # |
IGL02747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79944339-79974512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79970238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 126
(D126E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032748]
[ENSMUST00000047362]
[ENSMUST00000047558]
[ENSMUST00000107368]
[ENSMUST00000121882]
[ENSMUST00000123189]
[ENSMUST00000163812]
[ENSMUST00000174172]
[ENSMUST00000173824]
[ENSMUST00000154428]
[ENSMUST00000174199]
|
| AlphaFold |
Q8BTU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032748
|
| SMART Domains |
Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
21 |
54 |
9.53e-2 |
SMART |
|
TPR
|
58 |
91 |
5.48e-2 |
SMART |
|
TPR
|
92 |
125 |
7.45e-4 |
SMART |
|
Blast:ARM
|
183 |
224 |
6e-9 |
BLAST |
|
Blast:ARM
|
226 |
266 |
1e-7 |
BLAST |
|
Pfam:UNC45-central
|
287 |
505 |
1.2e-43 |
PFAM |
|
Blast:ARM
|
679 |
717 |
4e-13 |
BLAST |
|
Blast:ARM
|
720 |
762 |
4e-12 |
BLAST |
|
Blast:ARM
|
764 |
804 |
8e-16 |
BLAST |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047362
AA Change: D126E
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930
AA Change: D126E
| 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: ENSMUST00000107368
|
| SMART Domains |
Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
21 |
54 |
9.53e-2 |
SMART |
|
TPR
|
58 |
91 |
5.48e-2 |
SMART |
|
TPR
|
92 |
125 |
7.45e-4 |
SMART |
|
Blast:ARM
|
183 |
224 |
6e-9 |
BLAST |
|
Blast:ARM
|
226 |
266 |
1e-7 |
BLAST |
|
Pfam:UNC45-central
|
314 |
505 |
2.4e-38 |
PFAM |
|
Blast:ARM
|
679 |
717 |
4e-13 |
BLAST |
|
Blast:ARM
|
720 |
762 |
4e-12 |
BLAST |
|
Blast:ARM
|
764 |
804 |
8e-16 |
BLAST |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121882
AA Change: D126E
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930
AA Change: D126E
| 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: ENSMUST00000134288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144685
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148001
|
| 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: ENSMUST00000174111
|
| 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: 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: 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: ENSMUST00000154428
|
| SMART Domains |
Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
21 |
54 |
9.53e-2 |
SMART |
|
TPR
|
58 |
91 |
5.48e-2 |
SMART |
|
TPR
|
92 |
125 |
7.45e-4 |
SMART |
|
Blast:ARM
|
183 |
224 |
4e-9 |
BLAST |
|
Blast:ARM
|
226 |
266 |
6e-8 |
BLAST |
|
Pfam:UNC45-central
|
287 |
505 |
3.5e-44 |
PFAM |
|
low complexity region
|
597 |
608 |
N/A |
INTRINSIC |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,282 (GRCm39) |
L3373* |
probably null |
Het |
| Ap1s3 |
T |
C |
1: 79,601,409 (GRCm39) |
Y94C |
probably damaging |
Het |
| Dbx2 |
T |
C |
15: 95,530,320 (GRCm39) |
T216A |
probably benign |
Het |
| Dsg4 |
A |
G |
18: 20,579,995 (GRCm39) |
R67G |
probably damaging |
Het |
| Eng |
G |
A |
2: 32,562,970 (GRCm39) |
|
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,861,875 (GRCm39) |
I206N |
probably damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,765,720 (GRCm39) |
M276I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,102,756 (GRCm39) |
S793P |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,317,087 (GRCm39) |
N9D |
probably benign |
Het |
| Kics2 |
A |
C |
10: 121,581,455 (GRCm39) |
Q152P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,819 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,423,565 (GRCm39) |
K985E |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,552,668 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,380 (GRCm39) |
Y133C |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,361,583 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,312,136 (GRCm39) |
K301E |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,438,122 (GRCm39) |
|
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,999,348 (GRCm39) |
S712P |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,161 (GRCm39) |
I264N |
probably damaging |
Het |
| Rpap1 |
A |
G |
2: 119,604,609 (GRCm39) |
I433T |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,670,563 (GRCm39) |
N3478H |
probably damaging |
Het |
| Sox30 |
A |
G |
11: 45,871,772 (GRCm39) |
D209G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,088,981 (GRCm39) |
F628S |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,944,917 (GRCm39) |
G768D |
possibly damaging |
Het |
| Tesk2 |
T |
C |
4: 116,660,076 (GRCm39) |
V398A |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,272,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r120 |
G |
A |
17: 57,831,719 (GRCm39) |
H357Y |
probably benign |
Het |
|
| Other mutations in Rccd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01915:Rccd1
|
APN |
7 |
79,969,966 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02024:Rccd1
|
APN |
7 |
79,968,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation