Incidental Mutation 'R5604:Ccser1'
ID |
439177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser1
|
Ensembl Gene |
ENSMUSG00000039578 |
Gene Name |
coiled-coil serine rich 1 |
Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
MMRRC Submission |
043156-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R5604 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61290788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 490
(T490M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000126214]
|
AlphaFold |
Q8C0C4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045522
AA Change: T490M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040251 Gene: ENSMUSG00000039578 AA Change: T490M
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 damaging
Transcript: ENSMUST00000126214
AA Change: T490M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122894 Gene: ENSMUSG00000039578 AA Change: T490M
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
A |
T |
16: 88,556,278 (GRCm39) |
N164I |
possibly damaging |
Het |
4933402J07Rik |
C |
A |
8: 88,295,125 (GRCm39) |
R88S |
possibly damaging |
Het |
Abca1 |
A |
T |
4: 53,067,168 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,516,279 (GRCm39) |
I4406K |
probably damaging |
Het |
Adam6b |
T |
A |
12: 113,454,420 (GRCm39) |
Y412* |
probably null |
Het |
Ahcyl2 |
C |
T |
6: 29,908,366 (GRCm39) |
H370Y |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,862,904 (GRCm39) |
Y693C |
probably damaging |
Het |
Anapc4 |
T |
A |
5: 52,999,076 (GRCm39) |
Y129* |
probably null |
Het |
Ankrd35 |
A |
G |
3: 96,592,215 (GRCm39) |
T834A |
probably benign |
Het |
Antxr2 |
T |
C |
5: 98,096,169 (GRCm39) |
K372E |
probably damaging |
Het |
Arhgef1 |
C |
T |
7: 24,612,210 (GRCm39) |
H198Y |
probably benign |
Het |
Barhl2 |
T |
C |
5: 106,603,412 (GRCm39) |
E249G |
probably benign |
Het |
C2cd5 |
T |
C |
6: 142,957,747 (GRCm39) |
E987G |
probably benign |
Het |
C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
Cd8b1 |
T |
C |
6: 71,303,159 (GRCm39) |
V78A |
probably benign |
Het |
Cdc25c |
A |
G |
18: 34,866,701 (GRCm39) |
Y374H |
probably damaging |
Het |
Cmya5 |
C |
T |
13: 93,229,271 (GRCm39) |
R1939H |
probably benign |
Het |
Cyp2d40 |
A |
G |
15: 82,648,256 (GRCm39) |
F19S |
probably damaging |
Het |
Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
E4f1 |
A |
G |
17: 24,663,118 (GRCm39) |
I729T |
probably damaging |
Het |
Endou |
A |
C |
15: 97,618,800 (GRCm39) |
S75A |
probably benign |
Het |
Epas1 |
C |
T |
17: 87,113,200 (GRCm39) |
H129Y |
probably damaging |
Het |
Grm1 |
T |
A |
10: 10,622,479 (GRCm39) |
N415Y |
probably damaging |
Het |
Hdc |
A |
T |
2: 126,436,583 (GRCm39) |
S429R |
probably benign |
Het |
Hnf4g |
C |
T |
3: 3,722,186 (GRCm39) |
Q447* |
probably null |
Het |
Htr6 |
C |
T |
4: 138,788,814 (GRCm39) |
A414T |
probably benign |
Het |
Insig1 |
T |
C |
5: 28,280,080 (GRCm39) |
L224P |
probably damaging |
Het |
Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
Irak2 |
T |
A |
6: 113,667,792 (GRCm39) |
S458T |
possibly damaging |
Het |
Irs2 |
A |
G |
8: 11,055,007 (GRCm39) |
S1142P |
possibly damaging |
Het |
Kirrel1 |
T |
A |
3: 86,996,462 (GRCm39) |
N379I |
possibly damaging |
Het |
L3mbtl4 |
T |
A |
17: 69,084,917 (GRCm39) |
D609E |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,572,405 (GRCm39) |
T537A |
probably benign |
Het |
Lce1i |
A |
T |
3: 92,685,056 (GRCm39) |
V40E |
unknown |
Het |
Mprip |
T |
A |
11: 59,649,293 (GRCm39) |
V999D |
probably benign |
Het |
Myd88 |
G |
T |
9: 119,168,829 (GRCm39) |
T85K |
possibly damaging |
Het |
Or1e35 |
T |
A |
11: 73,797,853 (GRCm39) |
H155L |
probably benign |
Het |
Padi6 |
A |
T |
4: 140,458,473 (GRCm39) |
M473K |
probably damaging |
Het |
Pcdh12 |
T |
A |
18: 38,401,935 (GRCm39) |
S97C |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,783,877 (GRCm39) |
D2026V |
probably damaging |
Het |
Plcxd1 |
T |
C |
5: 110,250,451 (GRCm39) |
V264A |
probably benign |
Het |
Plekha4 |
T |
C |
7: 45,198,580 (GRCm39) |
S558P |
probably damaging |
Het |
Ppm1a |
T |
A |
12: 72,837,455 (GRCm39) |
M334K |
probably benign |
Het |
Ppp1r13l |
T |
C |
7: 19,109,524 (GRCm39) |
S684P |
possibly damaging |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Prl2a1 |
T |
C |
13: 27,990,369 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,672,936 (GRCm39) |
K753E |
probably benign |
Het |
Qrich1 |
A |
G |
9: 108,436,502 (GRCm39) |
|
probably benign |
Het |
Ror2 |
G |
A |
13: 53,271,201 (GRCm39) |
R373C |
probably benign |
Het |
Rtn4 |
C |
A |
11: 29,658,140 (GRCm39) |
L765I |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,523,487 (GRCm39) |
|
probably null |
Het |
Setd2 |
T |
A |
9: 110,433,284 (GRCm39) |
D62E |
probably damaging |
Het |
Ss18 |
A |
T |
18: 14,769,577 (GRCm39) |
Y327N |
unknown |
Het |
Ticam1 |
G |
A |
17: 56,578,756 (GRCm39) |
T113I |
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,773,459 (GRCm39) |
I1134V |
probably damaging |
Het |
Top3b |
T |
G |
16: 16,707,399 (GRCm39) |
Y526* |
probably null |
Het |
Tph2 |
T |
C |
10: 114,926,614 (GRCm39) |
E384G |
probably damaging |
Het |
Ttll11 |
A |
T |
2: 35,707,798 (GRCm39) |
I503N |
probably benign |
Het |
Zfp87 |
T |
G |
13: 67,665,945 (GRCm39) |
K172N |
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 |
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 |
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'- GTCGAGACCTTTTGAATCATTCTAGG -3'
(R):5'- AACACTTAGCTTCTCTGATTGGC -3'
Sequencing Primer
(F):5'- CCATACCGAGAAGGAAGAT -3'
(R):5'- TGGCAACATCGACTACGG -3'
|
Posted On |
2016-10-26 |