Incidental Mutation 'IGL02936:Rccd1'
ID |
364318 |
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 # |
IGL02936
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
79944339-79974512 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79966794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 329
(K329N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047362]
[ENSMUST00000047558]
[ENSMUST00000121882]
[ENSMUST00000123189]
[ENSMUST00000172781]
[ENSMUST00000174199]
[ENSMUST00000163812]
[ENSMUST00000174172]
[ENSMUST00000173824]
|
AlphaFold |
Q8BTU7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047362
AA Change: K329N
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048043 Gene: ENSMUSG00000038930 AA Change: K329N
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 damaging
Transcript: ENSMUST00000121882
AA Change: K329N
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113273 Gene: ENSMUSG00000038930 AA Change: K329N
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: ENSMUST00000144685
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148001
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134288
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172911
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172781
|
SMART Domains |
Protein: ENSMUSP00000133618 Gene: ENSMUSG00000038943
Domain | Start | End | E-Value | Type |
Pfam:MAP65_ASE1
|
1 |
150 |
2.1e-27 |
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: ENSMUST00000174599
|
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: ENSMUST00000174111
|
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 |
|
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 |
1700017B05Rik |
G |
A |
9: 57,165,687 (GRCm39) |
T229I |
possibly damaging |
Het |
Acad11 |
T |
C |
9: 103,990,711 (GRCm39) |
S439P |
probably benign |
Het |
Acer2 |
A |
T |
4: 86,818,796 (GRCm39) |
N148I |
possibly damaging |
Het |
Adgre1 |
A |
G |
17: 57,785,833 (GRCm39) |
I860V |
probably benign |
Het |
Asb2 |
A |
G |
12: 103,302,173 (GRCm39) |
I125T |
probably benign |
Het |
Atp13a2 |
G |
T |
4: 140,729,260 (GRCm39) |
L614F |
probably benign |
Het |
Car7 |
A |
G |
8: 105,274,854 (GRCm39) |
T132A |
possibly damaging |
Het |
Cfap221 |
T |
C |
1: 119,912,482 (GRCm39) |
D135G |
probably damaging |
Het |
Crtc3 |
A |
G |
7: 80,239,511 (GRCm39) |
F614L |
probably damaging |
Het |
Csn3 |
T |
G |
5: 88,077,992 (GRCm39) |
I166S |
possibly damaging |
Het |
Dna2 |
T |
G |
10: 62,792,879 (GRCm39) |
L298R |
probably damaging |
Het |
Ece1 |
T |
C |
4: 137,673,612 (GRCm39) |
S387P |
probably benign |
Het |
Fbxo28 |
C |
T |
1: 182,169,093 (GRCm39) |
G15D |
unknown |
Het |
Fbxw24 |
A |
T |
9: 109,454,026 (GRCm39) |
|
probably null |
Het |
Foxd3 |
T |
A |
4: 99,545,052 (GRCm39) |
V64E |
probably benign |
Het |
Galnt7 |
A |
C |
8: 58,037,248 (GRCm39) |
V47G |
probably benign |
Het |
Gcc2 |
A |
T |
10: 58,131,962 (GRCm39) |
L1453F |
probably damaging |
Het |
Gcnt4 |
G |
A |
13: 97,082,919 (GRCm39) |
V72I |
probably benign |
Het |
Gm10269 |
A |
C |
18: 20,816,010 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
T |
G |
1: 150,573,273 (GRCm39) |
Q2125H |
probably damaging |
Het |
Iho1 |
T |
C |
9: 108,289,702 (GRCm39) |
I173M |
possibly damaging |
Het |
Llcfc1 |
T |
A |
6: 41,661,593 (GRCm39) |
S48T |
probably benign |
Het |
Met |
G |
T |
6: 17,553,396 (GRCm39) |
V1061F |
probably damaging |
Het |
Mthfd2 |
G |
A |
6: 83,288,342 (GRCm39) |
H138Y |
probably damaging |
Het |
Mtus1 |
A |
T |
8: 41,452,554 (GRCm39) |
D1041E |
possibly damaging |
Het |
Mug2 |
G |
A |
6: 122,058,346 (GRCm39) |
|
probably null |
Het |
Nos3 |
C |
T |
5: 24,585,991 (GRCm39) |
T878I |
probably damaging |
Het |
Or4c15 |
A |
G |
2: 88,760,128 (GRCm39) |
M177T |
probably benign |
Het |
Or52b1 |
A |
T |
7: 104,979,212 (GRCm39) |
Y62* |
probably null |
Het |
Pbrm1 |
T |
A |
14: 30,783,470 (GRCm39) |
V497D |
probably damaging |
Het |
Plcd1 |
T |
C |
9: 118,903,267 (GRCm39) |
E471G |
probably damaging |
Het |
Poc1a |
A |
G |
9: 106,162,226 (GRCm39) |
T84A |
probably damaging |
Het |
Ppm1f |
A |
G |
16: 16,733,100 (GRCm39) |
H209R |
probably damaging |
Het |
Serpinb9g |
A |
T |
13: 33,678,865 (GRCm39) |
N245I |
possibly damaging |
Het |
Slc22a26 |
A |
C |
19: 7,768,470 (GRCm39) |
F196V |
probably damaging |
Het |
Tial1 |
G |
A |
7: 128,044,387 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,946,193 (GRCm39) |
|
probably null |
Het |
Vmn1r15 |
A |
T |
6: 57,235,803 (GRCm39) |
K224* |
probably null |
Het |
Wdr72 |
A |
T |
9: 74,059,862 (GRCm39) |
D424V |
probably damaging |
Het |
Wt1 |
A |
G |
2: 104,999,384 (GRCm39) |
K308E |
probably damaging |
Het |
Zwint |
T |
C |
10: 72,492,956 (GRCm39) |
S193P |
probably damaging |
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 |
IGL02747:Rccd1
|
APN |
7 |
79,970,238 (GRCm39) |
missense |
probably benign |
0.31 |
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 |
2015-12-18 |