Incidental Mutation 'R8396:Ccser1'
ID |
647604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser1
|
Ensembl Gene |
ENSMUSG00000039578 |
Gene Name |
coiled-coil serine rich 1 |
Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
MMRRC Submission |
067812-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R8396 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61289088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 417
(V417E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000126214]
|
AlphaFold |
Q8C0C4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045522
AA Change: V417E
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000040251 Gene: ENSMUSG00000039578 AA Change: V417E
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: ENSMUST00000126214
AA Change: V417E
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000122894 Gene: ENSMUSG00000039578 AA Change: V417E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef3 |
A |
G |
10: 18,528,280 (GRCm39) |
|
probably null |
Het |
Arid1a |
T |
C |
4: 133,479,973 (GRCm39) |
Y317C |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,552,220 (GRCm39) |
T1321A |
probably benign |
Het |
Bckdk |
A |
G |
7: 127,504,931 (GRCm39) |
Y129C |
probably damaging |
Het |
Birc2 |
A |
G |
9: 7,834,301 (GRCm39) |
V60A |
probably benign |
Het |
Bmp8a |
T |
C |
4: 123,218,952 (GRCm39) |
H152R |
probably benign |
Het |
C3 |
T |
C |
17: 57,528,029 (GRCm39) |
H730R |
probably benign |
Het |
Cfap58 |
T |
A |
19: 48,017,540 (GRCm39) |
M800K |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,780,627 (GRCm39) |
L352P |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,840,376 (GRCm39) |
L522P |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,393,379 (GRCm39) |
H347Q |
possibly damaging |
Het |
Gm13271 |
A |
T |
4: 88,673,318 (GRCm39) |
M72L |
probably benign |
Het |
Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Irx5 |
G |
A |
8: 93,086,962 (GRCm39) |
G298D |
probably benign |
Het |
Klf5 |
T |
C |
14: 99,539,670 (GRCm39) |
I361T |
possibly damaging |
Het |
Lsm11 |
G |
A |
11: 45,835,591 (GRCm39) |
A50V |
probably benign |
Het |
Map1b |
T |
C |
13: 99,570,621 (GRCm39) |
K700R |
unknown |
Het |
Muc5b |
A |
T |
7: 141,405,552 (GRCm39) |
T954S |
unknown |
Het |
Nhsl1 |
A |
G |
10: 18,400,910 (GRCm39) |
N678S |
probably benign |
Het |
Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
Ntsr2 |
A |
G |
12: 16,706,821 (GRCm39) |
H283R |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,893,829 (GRCm39) |
I6746N |
probably benign |
Het |
Obsl1 |
T |
C |
1: 75,480,350 (GRCm39) |
T425A |
probably benign |
Het |
Pag1 |
T |
A |
3: 9,759,112 (GRCm39) |
E335D |
probably benign |
Het |
Parp3 |
T |
A |
9: 106,351,447 (GRCm39) |
Q223L |
probably benign |
Het |
Pogz |
T |
C |
3: 94,786,061 (GRCm39) |
V883A |
probably benign |
Het |
Rsbn1l |
A |
T |
5: 21,132,665 (GRCm39) |
M198K |
probably benign |
Het |
Sh3bgr |
A |
G |
16: 96,007,680 (GRCm39) |
|
probably null |
Het |
Shc4 |
A |
G |
2: 125,471,617 (GRCm39) |
I600T |
probably damaging |
Het |
Slc26a1 |
T |
C |
5: 108,821,715 (GRCm39) |
H74R |
probably benign |
Het |
Slc7a11 |
A |
C |
3: 50,338,578 (GRCm39) |
I277S |
possibly damaging |
Het |
Tep1 |
G |
T |
14: 51,074,529 (GRCm39) |
T1832N |
probably benign |
Het |
Terf2 |
A |
G |
8: 107,809,613 (GRCm39) |
|
probably null |
Het |
Tle4 |
G |
A |
19: 14,432,323 (GRCm39) |
Q458* |
probably null |
Het |
Trim34b |
A |
T |
7: 103,979,083 (GRCm39) |
D110V |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,308,034 (GRCm39) |
N2267K |
possibly damaging |
Het |
Vmn2r50 |
G |
A |
7: 9,781,639 (GRCm39) |
Q369* |
probably null |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp229 |
T |
C |
17: 21,965,077 (GRCm39) |
S436P |
probably damaging |
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 |
|
R7508:Ccser1
|
UTSW |
6 |
61,547,707 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
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'- TTCTTCACCAGAGACCCCTG -3'
(R):5'- AAGGAAACGTGCCTTTCATTC -3'
Sequencing Primer
(F):5'- AGAGACCCCTGCTGGTAAC -3'
(R):5'- GTGCCTTTCATTCACGATATGGCG -3'
|
Posted On |
2020-09-02 |