Incidental Mutation 'R7967:Rccd1'
| ID |
650419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rccd1
|
| Ensembl Gene |
ENSMUSG00000038930 |
| Gene Name |
RCC1 domain containing 1 |
| Synonyms |
E430018M08Rik |
| MMRRC Submission |
046010-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79944339-79974512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79968657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 301
(S301L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047362]
[ENSMUST00000047558]
[ENSMUST00000121882]
[ENSMUST00000123189]
[ENSMUST00000163812]
[ENSMUST00000173824]
[ENSMUST00000174172]
[ENSMUST00000174199]
|
| AlphaFold |
Q8BTU7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047362
AA Change: S301L
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930
AA Change: S301L
| 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 |
possibly damaging
Transcript: ENSMUST00000121882
AA Change: S301L
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930
AA Change: S301L
| 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 |
probably benign
Transcript: ENSMUST00000123189
|
| 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: 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: 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: ENSMUST00000174199
|
| SMART Domains |
Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
7 |
524 |
8.1e-158 |
PFAM |
|
| Meta Mutation Damage Score |
0.2166 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,932,169 (GRCm39) |
H228R |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Atp11b |
C |
A |
3: 35,895,192 (GRCm39) |
T910K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,856,999 (GRCm39) |
L320Q |
probably damaging |
Het |
| C530025M09Rik |
G |
A |
2: 149,672,974 (GRCm39) |
R54C |
unknown |
Het |
| Cfap251 |
G |
A |
5: 123,421,579 (GRCm39) |
R644H |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,494 (GRCm39) |
I530F |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,857,256 (GRCm39) |
V302A |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,798,604 (GRCm39) |
K497E |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Exosc10 |
A |
G |
4: 148,649,121 (GRCm39) |
D337G |
probably damaging |
Het |
| Fabp3 |
A |
T |
4: 130,207,781 (GRCm39) |
H94L |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,501,811 (GRCm39) |
K606* |
probably null |
Het |
| Grm5 |
A |
G |
7: 87,624,569 (GRCm39) |
T379A |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,552,332 (GRCm39) |
Y89F |
probably damaging |
Het |
| Hoxd8 |
T |
C |
2: 74,536,378 (GRCm39) |
S163P |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,614,370 (GRCm39) |
I440N |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,085,461 (GRCm39) |
D2236G |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Klhl31 |
G |
A |
9: 77,557,430 (GRCm39) |
E49K |
probably damaging |
Het |
| Mmp10 |
A |
G |
9: 7,504,116 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mtus2 |
A |
T |
5: 148,014,656 (GRCm39) |
E483V |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,456,119 (GRCm39) |
|
probably null |
Het |
| Or12e13 |
C |
T |
2: 87,663,863 (GRCm39) |
P160L |
possibly damaging |
Het |
| Orc3 |
A |
T |
4: 34,598,645 (GRCm39) |
M187K |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,902 (GRCm39) |
N378S |
probably damaging |
Het |
| Pgm2l1 |
A |
C |
7: 99,910,854 (GRCm39) |
H266P |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 176,102,264 (GRCm39) |
D59E |
probably benign |
Het |
| Ppp2r2c |
A |
G |
5: 37,097,450 (GRCm39) |
D212G |
possibly damaging |
Het |
| Prorp |
G |
A |
12: 55,350,979 (GRCm39) |
G96D |
probably benign |
Het |
| Shbg |
T |
A |
11: 69,505,813 (GRCm39) |
D398V |
probably benign |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tecta |
G |
A |
9: 42,289,251 (GRCm39) |
T438M |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,756,023 (GRCm39) |
I89F |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ugt2b36 |
C |
A |
5: 87,214,236 (GRCm39) |
M469I |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,160,830 (GRCm39) |
V445A |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 127,016,453 (GRCm39) |
C745R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGGGGTCTATAATCACAGCTG -3'
(R):5'- TGGAAGTCAGTATGCGGACTG -3'
Sequencing Primer
(F):5'- TGACAACTGCTTCAGTCCAGGAG -3'
(R):5'- AAGTCAGTATGCGGACTGTTCAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation