Incidental Mutation 'R1650:Ccser1'
| ID |
174173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
| MMRRC Submission |
039686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R1650 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61615474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 659
(T659A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000067307]
[ENSMUST00000126214]
|
| AlphaFold |
Q8C0C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045522
AA Change: T659A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: T659A
| 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: T147A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000067639
Gene: ENSMUSG00000039578
AA Change: T147A
| 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: T659A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: T659A
| 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 |
unknown
Transcript: ENSMUST00000134710
AA Change: T87A
|
| SMART Domains |
Protein: ENSMUSP00000122633
Gene: ENSMUSG00000039578
AA Change: T87A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
coiled coil region
|
102 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145554
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.0%
- 20x: 83.4%
|
| Validation Efficiency |
99% (86/87) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
G |
2: 103,532,747 (GRCm39) |
V515G |
probably damaging |
Het |
| Ark2c |
A |
C |
18: 77,550,113 (GRCm39) |
|
probably null |
Het |
| Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,704,620 (GRCm39) |
|
probably benign |
Het |
| Bag4 |
T |
A |
8: 26,267,452 (GRCm39) |
Q126L |
probably damaging |
Het |
| Cenpn |
A |
G |
8: 117,661,498 (GRCm39) |
D199G |
probably damaging |
Het |
| Cfhr3 |
A |
G |
1: 139,521,564 (GRCm39) |
|
noncoding transcript |
Het |
| Clca3a2 |
T |
A |
3: 144,797,973 (GRCm39) |
H164L |
probably damaging |
Het |
| Col5a1 |
C |
A |
2: 27,812,171 (GRCm39) |
S84R |
unknown |
Het |
| Ctsc |
T |
A |
7: 87,930,634 (GRCm39) |
L71* |
probably null |
Het |
| Cyp2c70 |
A |
G |
19: 40,153,921 (GRCm39) |
Y223H |
probably benign |
Het |
| Dbt |
A |
G |
3: 116,328,381 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,611 (GRCm39) |
S398P |
probably damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,876,792 (GRCm39) |
K62E |
probably benign |
Het |
| Fgf22 |
A |
T |
10: 79,591,023 (GRCm39) |
Y24F |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,440,595 (GRCm39) |
R239G |
probably benign |
Het |
| Gm11360 |
C |
T |
13: 28,140,379 (GRCm39) |
A81V |
unknown |
Het |
| Htr5b |
T |
A |
1: 121,455,891 (GRCm39) |
T10S |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,233,583 (GRCm39) |
R1717G |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,687,767 (GRCm39) |
V556D |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,942,168 (GRCm39) |
V553A |
possibly damaging |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lca5l |
T |
C |
16: 95,980,140 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
T |
C |
1: 24,750,639 (GRCm39) |
W171R |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,445,732 (GRCm39) |
Y1027C |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,350,393 (GRCm39) |
Y1702* |
probably null |
Het |
| Mon2 |
T |
C |
10: 122,831,682 (GRCm39) |
I1675V |
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,692,871 (GRCm39) |
K486M |
probably damaging |
Het |
| Nek1 |
A |
T |
8: 61,489,110 (GRCm39) |
H338L |
probably benign |
Het |
| Ola1 |
A |
T |
2: 72,987,238 (GRCm39) |
D131E |
possibly damaging |
Het |
| Olr1 |
T |
A |
6: 129,484,052 (GRCm39) |
M7L |
probably benign |
Het |
| Or1f12 |
T |
C |
13: 21,721,249 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4k36 |
C |
T |
2: 111,146,640 (GRCm39) |
A272V |
probably benign |
Het |
| Or5t18 |
A |
T |
2: 86,637,091 (GRCm39) |
M84K |
possibly damaging |
Het |
| Or5w10 |
C |
A |
2: 87,375,772 (GRCm39) |
V39L |
probably benign |
Het |
| Or7g27 |
T |
G |
9: 19,249,943 (GRCm39) |
F62L |
possibly damaging |
Het |
| Or9m2 |
C |
T |
2: 87,821,145 (GRCm39) |
A230V |
probably benign |
Het |
| Pan2 |
G |
A |
10: 128,153,768 (GRCm39) |
E980K |
probably damaging |
Het |
| Pgm1 |
C |
A |
4: 99,819,276 (GRCm39) |
Q149K |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,819,267 (GRCm39) |
K146E |
possibly damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,660,587 (GRCm39) |
|
probably benign |
Het |
| Plekhs1 |
G |
T |
19: 56,459,474 (GRCm39) |
G75C |
probably damaging |
Het |
| Plin4 |
G |
A |
17: 56,411,931 (GRCm39) |
T700I |
probably damaging |
Het |
| Podxl2 |
G |
A |
6: 88,826,901 (GRCm39) |
P71L |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,745,964 (GRCm39) |
V579D |
probably damaging |
Het |
| Poteg |
A |
G |
8: 27,953,813 (GRCm39) |
D318G |
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,010,878 (GRCm39) |
D554E |
probably damaging |
Het |
| Proser3 |
G |
A |
7: 30,239,751 (GRCm39) |
A451V |
probably damaging |
Het |
| Shld2 |
T |
A |
14: 33,981,574 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,211,366 (GRCm39) |
|
probably benign |
Het |
| Syce1 |
C |
A |
7: 140,358,300 (GRCm39) |
C216F |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,951,033 (GRCm39) |
K395* |
probably null |
Het |
| Trim28 |
G |
A |
7: 12,764,776 (GRCm39) |
G831D |
possibly damaging |
Het |
| Tyw1 |
A |
G |
5: 130,317,752 (GRCm39) |
I434V |
possibly damaging |
Het |
| Ubox5 |
G |
A |
2: 130,442,345 (GRCm39) |
A114V |
probably benign |
Het |
| Ubqln3 |
C |
T |
7: 103,790,228 (GRCm39) |
V621I |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,079,052 (GRCm39) |
D1543G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
C |
A |
13: 32,989,362 (GRCm39) |
H283Q |
probably benign |
Het |
| Zan |
A |
T |
5: 137,392,863 (GRCm39) |
|
probably benign |
Het |
| Zcchc10 |
A |
T |
11: 53,218,229 (GRCm39) |
K1* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,687,848 (GRCm39) |
S925T |
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 |
|
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 |
|
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'- TTTGCCTAACAGAGAAGGTAGCCATTC -3'
(R):5'- GTGAGATCACTGGAAAGTACAGCCC -3'
Sequencing Primer
(F):5'- CAGAGAAGGTAGCCATTCTATTTAAC -3'
(R):5'- CTAATCTCATCACTGAAGGGGCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation