Incidental Mutation 'R7508:Ccser1'
ID |
581892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser1
|
Ensembl Gene |
ENSMUSG00000039578 |
Gene Name |
coiled-coil serine rich 1 |
Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
MMRRC Submission |
045581-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R7508 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61547707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 590
(H590R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000067307]
[ENSMUST00000126214]
|
AlphaFold |
Q8C0C4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045522
AA Change: H590R
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000040251 Gene: ENSMUSG00000039578 AA Change: H590R
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
36 |
N/A |
INTRINSIC |
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
low complexity region
|
510 |
525 |
N/A |
INTRINSIC |
low complexity region
|
645 |
659 |
N/A |
INTRINSIC |
coiled coil region
|
674 |
703 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000067307
AA Change: H78R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000067639 Gene: ENSMUSG00000039578 AA Change: H78R
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
coiled coil region
|
162 |
191 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126214
AA Change: H590R
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000122894 Gene: ENSMUSG00000039578 AA Change: H590R
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
36 |
N/A |
INTRINSIC |
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
low complexity region
|
510 |
525 |
N/A |
INTRINSIC |
low complexity region
|
645 |
659 |
N/A |
INTRINSIC |
coiled coil region
|
674 |
703 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000122633 Gene: ENSMUSG00000039578 AA Change: H18R
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
coiled coil region
|
102 |
131 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
C |
T |
5: 50,174,209 (GRCm39) |
A110T |
probably benign |
Het |
Adra1a |
A |
C |
14: 66,875,384 (GRCm39) |
I120L |
probably damaging |
Het |
Ahnak2 |
C |
T |
12: 112,740,839 (GRCm39) |
V1078I |
possibly damaging |
Het |
Cdh12 |
T |
G |
15: 21,583,851 (GRCm39) |
L564V |
probably benign |
Het |
Celsr3 |
T |
A |
9: 108,713,821 (GRCm39) |
H1900Q |
probably benign |
Het |
Clasp1 |
T |
A |
1: 118,473,164 (GRCm39) |
M918K |
probably benign |
Het |
Cmtm6 |
A |
G |
9: 114,560,308 (GRCm39) |
E2G |
probably damaging |
Het |
Ctsg |
A |
G |
14: 56,337,998 (GRCm39) |
|
probably null |
Het |
Cylc2 |
T |
A |
4: 51,229,256 (GRCm39) |
|
probably null |
Het |
Dna2 |
A |
G |
10: 62,807,772 (GRCm39) |
|
probably null |
Het |
Dnai1 |
G |
A |
4: 41,614,323 (GRCm39) |
R333H |
probably benign |
Het |
Egln3 |
T |
C |
12: 54,227,414 (GRCm39) |
D239G |
probably benign |
Het |
Eif1ad12 |
T |
C |
12: 87,541,612 (GRCm39) |
M41T |
possibly damaging |
Het |
Fam13a |
A |
T |
6: 58,964,269 (GRCm39) |
D54E |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,636,675 (GRCm39) |
V2159A |
probably benign |
Het |
Gcnt2 |
T |
A |
13: 41,041,157 (GRCm39) |
F105L |
probably benign |
Het |
Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
Hacd4 |
A |
G |
4: 88,355,715 (GRCm39) |
F57L |
probably benign |
Het |
Helb |
T |
C |
10: 119,941,188 (GRCm39) |
D500G |
probably benign |
Het |
Ighv1-26 |
G |
A |
12: 114,752,062 (GRCm39) |
S94F |
probably damaging |
Het |
Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
Klra7 |
A |
T |
6: 130,207,054 (GRCm39) |
|
probably null |
Het |
Lyl1 |
T |
C |
8: 85,430,929 (GRCm39) |
V277A |
probably benign |
Het |
Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
Myo9b |
T |
C |
8: 71,807,445 (GRCm39) |
L1627P |
probably benign |
Het |
Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
Odf4 |
A |
T |
11: 68,813,249 (GRCm39) |
C218S |
possibly damaging |
Het |
Or2b6 |
T |
A |
13: 21,822,779 (GRCm39) |
I305F |
probably benign |
Het |
Or8u3-ps |
A |
G |
2: 85,952,282 (GRCm39) |
N5S |
possibly damaging |
Het |
Pde5a |
A |
G |
3: 122,611,679 (GRCm39) |
D571G |
probably damaging |
Het |
Pgc |
A |
G |
17: 48,045,111 (GRCm39) |
E343G |
probably benign |
Het |
Pik3cd |
A |
G |
4: 149,739,040 (GRCm39) |
F667L |
possibly damaging |
Het |
Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
Ptprb |
C |
T |
10: 116,189,896 (GRCm39) |
Q1565* |
probably null |
Het |
Rapgef4 |
T |
A |
2: 72,036,077 (GRCm39) |
N523K |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,719,651 (GRCm39) |
L557P |
probably damaging |
Het |
Rhobtb3 |
C |
T |
13: 76,026,976 (GRCm39) |
V466I |
probably benign |
Het |
Rnpep |
A |
G |
1: 135,206,596 (GRCm39) |
V166A |
probably benign |
Het |
Sgo2a |
A |
G |
1: 58,056,954 (GRCm39) |
K1046R |
probably benign |
Het |
Slc12a2 |
T |
C |
18: 58,037,465 (GRCm39) |
V525A |
probably benign |
Het |
Slc1a4 |
A |
T |
11: 20,256,487 (GRCm39) |
I448N |
probably damaging |
Het |
Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,089,885 (GRCm39) |
|
probably null |
Het |
Spag16 |
A |
T |
1: 69,926,679 (GRCm39) |
N258I |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,443,633 (GRCm39) |
L2076Q |
probably damaging |
Het |
Taok1 |
T |
A |
11: 77,436,152 (GRCm39) |
H704L |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,035,947 (GRCm39) |
F148L |
probably damaging |
Het |
Tm4sf1 |
A |
G |
3: 57,202,176 (GRCm39) |
Y12H |
probably benign |
Het |
Traj6 |
C |
T |
14: 54,450,171 (GRCm39) |
T9M |
|
Het |
Ttll4 |
A |
G |
1: 74,726,418 (GRCm39) |
N672S |
possibly damaging |
Het |
Ube3a |
T |
A |
7: 58,953,437 (GRCm39) |
H790Q |
possibly damaging |
Het |
Usp49 |
G |
A |
17: 47,983,205 (GRCm39) |
R70Q |
probably benign |
Het |
Vmn2r32 |
C |
T |
7: 7,470,373 (GRCm39) |
V515M |
possibly damaging |
Het |
Wars1 |
A |
G |
12: 108,848,801 (GRCm39) |
S49P |
probably benign |
Het |
Zbp1 |
T |
A |
2: 173,049,604 (GRCm39) |
Q386L |
possibly damaging |
Het |
Zfp369 |
T |
C |
13: 65,427,087 (GRCm39) |
F10S |
unknown |
Het |
Zfp512 |
C |
G |
5: 31,630,883 (GRCm39) |
I408M |
possibly damaging |
Het |
Zfp952 |
A |
G |
17: 33,222,756 (GRCm39) |
I412V |
probably benign |
Het |
|
Other mutations in Ccser1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Ccser1
|
APN |
6 |
62,357,126 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL00858:Ccser1
|
APN |
6 |
61,787,649 (GRCm39) |
nonsense |
probably null |
|
IGL01012:Ccser1
|
APN |
6 |
61,615,474 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01391:Ccser1
|
APN |
6 |
61,615,505 (GRCm39) |
splice site |
probably benign |
|
IGL01643:Ccser1
|
APN |
6 |
61,288,839 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01767:Ccser1
|
APN |
6 |
61,695,136 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02081:Ccser1
|
APN |
6 |
61,288,152 (GRCm39) |
nonsense |
probably null |
|
IGL02152:Ccser1
|
APN |
6 |
61,288,692 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02870:Ccser1
|
APN |
6 |
61,288,276 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02890:Ccser1
|
APN |
6 |
62,356,815 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03147:Ccser1
|
UTSW |
6 |
61,289,144 (GRCm39) |
missense |
probably benign |
0.02 |
R0020:Ccser1
|
UTSW |
6 |
61,290,788 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0831:Ccser1
|
UTSW |
6 |
61,400,045 (GRCm39) |
missense |
probably damaging |
0.99 |
R1306:Ccser1
|
UTSW |
6 |
62,357,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R1441:Ccser1
|
UTSW |
6 |
62,357,016 (GRCm39) |
missense |
probably benign |
0.00 |
R1650:Ccser1
|
UTSW |
6 |
61,615,474 (GRCm39) |
missense |
probably benign |
0.01 |
R1653:Ccser1
|
UTSW |
6 |
61,288,449 (GRCm39) |
missense |
probably benign |
0.00 |
R1913:Ccser1
|
UTSW |
6 |
62,356,878 (GRCm39) |
missense |
probably damaging |
0.99 |
R1961:Ccser1
|
UTSW |
6 |
61,290,630 (GRCm39) |
splice site |
probably benign |
|
R2030:Ccser1
|
UTSW |
6 |
61,288,547 (GRCm39) |
missense |
probably benign |
|
R2056:Ccser1
|
UTSW |
6 |
61,399,936 (GRCm39) |
splice site |
probably null |
|
R2268:Ccser1
|
UTSW |
6 |
61,547,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R2280:Ccser1
|
UTSW |
6 |
61,547,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R2281:Ccser1
|
UTSW |
6 |
61,547,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R2571:Ccser1
|
UTSW |
6 |
61,399,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R4606:Ccser1
|
UTSW |
6 |
61,288,568 (GRCm39) |
missense |
probably damaging |
0.99 |
R4711:Ccser1
|
UTSW |
6 |
61,288,910 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4770:Ccser1
|
UTSW |
6 |
61,288,485 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4932:Ccser1
|
UTSW |
6 |
61,695,175 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5078:Ccser1
|
UTSW |
6 |
61,288,350 (GRCm39) |
missense |
probably damaging |
0.97 |
R5097:Ccser1
|
UTSW |
6 |
61,289,144 (GRCm39) |
missense |
probably benign |
0.02 |
R5221:Ccser1
|
UTSW |
6 |
61,289,075 (GRCm39) |
missense |
probably damaging |
0.99 |
R5378:Ccser1
|
UTSW |
6 |
61,288,650 (GRCm39) |
missense |
probably benign |
0.00 |
R5604:Ccser1
|
UTSW |
6 |
61,290,788 (GRCm39) |
missense |
probably damaging |
0.97 |
R5700:Ccser1
|
UTSW |
6 |
61,288,260 (GRCm39) |
missense |
probably benign |
0.00 |
R5970:Ccser1
|
UTSW |
6 |
61,288,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6257:Ccser1
|
UTSW |
6 |
62,356,769 (GRCm39) |
missense |
probably benign |
|
R6257:Ccser1
|
UTSW |
6 |
61,350,946 (GRCm39) |
missense |
probably damaging |
0.96 |
R6375:Ccser1
|
UTSW |
6 |
61,288,152 (GRCm39) |
nonsense |
probably null |
|
R6703:Ccser1
|
UTSW |
6 |
61,615,495 (GRCm39) |
nonsense |
probably null |
|
R6930:Ccser1
|
UTSW |
6 |
62,357,009 (GRCm39) |
missense |
probably benign |
0.03 |
R7256:Ccser1
|
UTSW |
6 |
61,288,851 (GRCm39) |
missense |
probably benign |
0.38 |
R7362:Ccser1
|
UTSW |
6 |
61,787,864 (GRCm39) |
missense |
unknown |
|
R7532:Ccser1
|
UTSW |
6 |
62,356,915 (GRCm39) |
nonsense |
probably null |
|
R7533:Ccser1
|
UTSW |
6 |
61,615,474 (GRCm39) |
missense |
probably benign |
0.25 |
R7729:Ccser1
|
UTSW |
6 |
61,288,840 (GRCm39) |
missense |
probably benign |
|
R7875:Ccser1
|
UTSW |
6 |
61,288,932 (GRCm39) |
missense |
probably benign |
0.06 |
R8055:Ccser1
|
UTSW |
6 |
61,290,757 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8396:Ccser1
|
UTSW |
6 |
61,289,088 (GRCm39) |
missense |
probably benign |
0.09 |
R8724:Ccser1
|
UTSW |
6 |
61,288,199 (GRCm39) |
missense |
probably damaging |
0.99 |
R8849:Ccser1
|
UTSW |
6 |
61,288,537 (GRCm39) |
missense |
probably benign |
0.00 |
R8906:Ccser1
|
UTSW |
6 |
61,787,842 (GRCm39) |
missense |
probably benign |
0.00 |
R9058:Ccser1
|
UTSW |
6 |
61,350,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATAATTTCTGCTGAAGGTCTGAG -3'
(R):5'- TATCCGTCAGAACTGGAAGC -3'
Sequencing Primer
(F):5'- GCTGAAGGTCTGAGAATTTTAAAGAC -3'
(R):5'- TCCGTCAGAACTGGAAGCTATTC -3'
|
Posted On |
2019-10-17 |