Incidental Mutation 'R5700:Ccser1'
| ID |
450839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
| MMRRC Submission |
043328-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R5700 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61288260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 141
(P141H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000126214]
|
| AlphaFold |
Q8C0C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045522
AA Change: P141H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: P141H
| 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: P141H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: P141H
| 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 |
noncoding transcript
Transcript: ENSMUST00000131989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147576
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,786,633 (GRCm39) |
Q155L |
probably benign |
Het |
| Acadvl |
A |
C |
11: 69,904,029 (GRCm39) |
Y242D |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Barx2 |
A |
T |
9: 31,770,061 (GRCm39) |
F156I |
probably damaging |
Het |
| Best1 |
T |
C |
19: 9,974,563 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,651,514 (GRCm39) |
S136P |
possibly damaging |
Het |
| Btla |
T |
A |
16: 45,070,936 (GRCm39) |
Y298* |
probably null |
Het |
| Casr |
T |
A |
16: 36,329,979 (GRCm39) |
I452F |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,842,065 (GRCm39) |
V296A |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,877 (GRCm39) |
I63F |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,313,952 (GRCm39) |
V40M |
probably damaging |
Het |
| Fam53b |
A |
T |
7: 132,361,749 (GRCm39) |
L93Q |
probably damaging |
Het |
| Fdps |
T |
C |
3: 89,002,956 (GRCm39) |
I105V |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,643 (GRCm39) |
D204G |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,808,003 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
A |
T |
7: 59,805,510 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
T |
A |
6: 64,071,416 (GRCm39) |
V413D |
possibly damaging |
Het |
| Hgf |
C |
T |
5: 16,815,122 (GRCm39) |
P471L |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Hs6st3 |
C |
T |
14: 119,376,199 (GRCm39) |
R125* |
probably null |
Het |
| Kdm4b |
T |
C |
17: 56,658,700 (GRCm39) |
I15T |
possibly damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,476 (GRCm39) |
N93S |
probably benign |
Het |
| Klhl6 |
G |
A |
16: 19,775,968 (GRCm39) |
Q197* |
probably null |
Het |
| Medag |
T |
C |
5: 149,345,682 (GRCm39) |
V7A |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Nckap5 |
C |
T |
1: 125,904,662 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,024,020 (GRCm39) |
K550R |
probably benign |
Het |
| Or2d36 |
A |
G |
7: 106,746,748 (GRCm39) |
N75S |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,171 (GRCm39) |
V103E |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,356 (GRCm39) |
I206F |
probably damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,318 (GRCm39) |
I93T |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,532,010 (GRCm39) |
S101P |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,964,589 (GRCm39) |
N594S |
probably benign |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Ppp2r1b |
T |
C |
9: 50,789,457 (GRCm39) |
Y443H |
probably damaging |
Het |
| Prnd |
G |
A |
2: 131,795,263 (GRCm39) |
V128I |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,309,697 (GRCm39) |
P156Q |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,374,143 (GRCm39) |
V445A |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,083,291 (GRCm39) |
M41K |
probably damaging |
Het |
| Slc66a1 |
C |
T |
4: 139,027,565 (GRCm39) |
S259N |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,971,641 (GRCm39) |
V303A |
possibly damaging |
Het |
| Ston1 |
T |
A |
17: 88,951,767 (GRCm39) |
S639R |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,913,461 (GRCm39) |
D153G |
probably benign |
Het |
| Timm44 |
T |
C |
8: 4,324,171 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trim34b |
G |
T |
7: 103,985,618 (GRCm39) |
V418F |
probably damaging |
Het |
| Vmn1r72 |
C |
T |
7: 11,404,350 (GRCm39) |
V33M |
probably damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,931,084 (GRCm39) |
V412A |
probably benign |
Het |
| Zfand1 |
T |
A |
3: 10,406,079 (GRCm39) |
N210I |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,660,499 (GRCm39) |
H1251R |
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 |
|
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 |
|
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'- AGCTTCCACCATAAGAAGGGC -3'
(R):5'- AAGTGGATTGGCTCTGAGGAAC -3'
Sequencing Primer
(F):5'- GGGCAGTGAACCTAAGCC -3'
(R):5'- ATTGGCTCTGAGGAACCGACTTAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation