Incidental Mutation 'R7533:Ccser1'
ID |
583409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser1
|
Ensembl Gene |
ENSMUSG00000039578 |
Gene Name |
coiled-coil serine rich 1 |
Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
MMRRC Submission |
045605-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R7533 (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 T
at 61615474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 659
(T659S)
|
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: T659S
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000040251 Gene: ENSMUSG00000039578 AA Change: T659S
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 |
possibly damaging
Transcript: ENSMUST00000067307
AA Change: T147S
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000067639 Gene: ENSMUSG00000039578 AA Change: T147S
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: T659S
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000122894 Gene: ENSMUSG00000039578 AA Change: T659S
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: T87S
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
coiled coil region
|
102 |
131 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1284 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agr2 |
T |
C |
12: 36,046,128 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
T |
18: 65,437,674 (GRCm39) |
S1240T |
probably damaging |
Het |
Atp8b2 |
G |
A |
3: 89,852,831 (GRCm39) |
L144F |
|
Het |
Cck |
T |
C |
9: 121,319,201 (GRCm39) |
D94G |
probably damaging |
Het |
Cfap74 |
C |
A |
4: 155,500,200 (GRCm39) |
D15E |
|
Het |
Commd5 |
G |
A |
15: 76,784,776 (GRCm39) |
A58T |
probably benign |
Het |
Dctn2 |
A |
G |
10: 127,103,347 (GRCm39) |
D34G |
possibly damaging |
Het |
Ecpas |
T |
C |
4: 58,809,411 (GRCm39) |
I1654M |
probably benign |
Het |
Epha6 |
T |
C |
16: 60,025,925 (GRCm39) |
T506A |
probably damaging |
Het |
Fat4 |
A |
C |
3: 39,061,406 (GRCm39) |
I4330L |
probably benign |
Het |
Fcho2 |
G |
T |
13: 98,921,307 (GRCm39) |
Q193K |
probably benign |
Het |
Hace1 |
A |
T |
10: 45,587,570 (GRCm39) |
I890L |
probably benign |
Het |
Igsf11 |
T |
G |
16: 38,829,236 (GRCm39) |
N102K |
probably benign |
Het |
Il7r |
G |
A |
15: 9,508,047 (GRCm39) |
S425L |
probably benign |
Het |
Itga3 |
G |
T |
11: 94,937,344 (GRCm39) |
Q1011K |
probably benign |
Het |
Kif3c |
T |
A |
12: 3,416,510 (GRCm39) |
I177N |
probably damaging |
Het |
Neb |
G |
A |
2: 52,114,578 (GRCm39) |
A1048V |
|
Het |
Neu4 |
C |
T |
1: 93,950,122 (GRCm39) |
T27M |
probably benign |
Het |
Or52b3 |
T |
C |
7: 102,203,718 (GRCm39) |
S76P |
probably damaging |
Het |
P4htm |
T |
C |
9: 108,474,136 (GRCm39) |
H134R |
probably benign |
Het |
Padi6 |
T |
C |
4: 140,458,506 (GRCm39) |
D462G |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,115,525 (GRCm39) |
D1375G |
|
Het |
Ptgr1 |
C |
T |
4: 58,971,011 (GRCm39) |
R247H |
possibly damaging |
Het |
Rad50 |
T |
C |
11: 53,589,746 (GRCm39) |
N152D |
probably damaging |
Het |
Serpina1c |
T |
A |
12: 103,863,566 (GRCm39) |
K211N |
probably damaging |
Het |
Sgsh |
T |
C |
11: 119,238,696 (GRCm39) |
E256G |
probably damaging |
Het |
Tnrc6b |
T |
C |
15: 80,811,942 (GRCm39) |
|
probably null |
Het |
Ube3d |
A |
G |
9: 86,304,990 (GRCm39) |
F284S |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,973,091 (GRCm39) |
D757G |
probably damaging |
Het |
Vmn1r173 |
C |
T |
7: 23,402,071 (GRCm39) |
A102V |
probably benign |
Het |
Vmn2r29 |
G |
T |
7: 7,244,656 (GRCm39) |
A406D |
probably damaging |
Het |
Wdfy3 |
G |
A |
5: 102,030,354 (GRCm39) |
R2385C |
probably benign |
Het |
Zfp112 |
A |
T |
7: 23,824,752 (GRCm39) |
K244M |
possibly damaging |
Het |
Zfp61 |
T |
C |
7: 23,990,504 (GRCm39) |
Q549R |
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 |
|
R7508:Ccser1
|
UTSW |
6 |
61,547,707 (GRCm39) |
missense |
probably benign |
0.05 |
R7532:Ccser1
|
UTSW |
6 |
62,356,915 (GRCm39) |
nonsense |
probably null |
|
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'- TGCCTAACAGAGAAGGTAGCC -3'
(R):5'- GGGCTGAAATATTACCTTTCTTCATGG -3'
Sequencing Primer
(F):5'- CAGAGAAGGTAGCCATTCTATTTAAC -3'
(R):5'- CCTTTCTTCATGGCTAGCAAAATAAG -3'
|
Posted On |
2019-10-17 |