Incidental Mutation 'R2280:Ccser1'
| ID |
243038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
| MMRRC Submission |
040279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R2280 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61547799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 49
(M49L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000067307]
[ENSMUST00000126214]
|
| AlphaFold |
Q8C0C4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045522
AA Change: M621L
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: M621L
| 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: M109L
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000067639
Gene: ENSMUSG00000039578
AA Change: M109L
| 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 |
possibly damaging
Transcript: ENSMUST00000126214
AA Change: M621L
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: M621L
| 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: ENSMUST00000134710
AA Change: M49L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122633
Gene: ENSMUSG00000039578
AA Change: M49L
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204337
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,654,955 (GRCm39) |
N2698S |
probably damaging |
Het |
| Ankrd37 |
T |
C |
8: 46,452,413 (GRCm39) |
T19A |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,802,164 (GRCm39) |
K353N |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,104 (GRCm39) |
E630D |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,664,724 (GRCm39) |
M888V |
unknown |
Het |
| Apoh |
T |
A |
11: 108,300,006 (GRCm39) |
Y218* |
probably null |
Het |
| Arhgef19 |
G |
A |
4: 140,973,827 (GRCm39) |
G105S |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,069,385 (GRCm39) |
S437P |
probably benign |
Het |
| Cacna2d4 |
A |
T |
6: 119,327,002 (GRCm39) |
Q1089L |
possibly damaging |
Het |
| Ccdc168 |
T |
A |
1: 44,095,620 (GRCm39) |
H1826L |
possibly damaging |
Het |
| Cep170 |
A |
T |
1: 176,602,071 (GRCm39) |
V345E |
probably benign |
Het |
| Chaf1b |
T |
G |
16: 93,688,459 (GRCm39) |
Y185D |
probably damaging |
Het |
| Clasp1 |
C |
T |
1: 118,492,913 (GRCm39) |
P1153S |
probably benign |
Het |
| Clvs2 |
A |
T |
10: 33,404,496 (GRCm39) |
I240N |
probably damaging |
Het |
| Cox8c |
A |
T |
12: 102,865,713 (GRCm39) |
H30L |
possibly damaging |
Het |
| Crtac1 |
G |
A |
19: 42,272,006 (GRCm39) |
L646F |
unknown |
Het |
| Cyp46a1 |
T |
C |
12: 108,321,730 (GRCm39) |
S319P |
probably damaging |
Het |
| Dcdc5 |
G |
A |
2: 106,202,867 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx4 |
T |
C |
13: 112,757,190 (GRCm39) |
I377V |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,225,076 (GRCm39) |
N407I |
possibly damaging |
Het |
| Dysf |
A |
C |
6: 84,041,476 (GRCm39) |
T161P |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,836 (GRCm39) |
V68I |
possibly damaging |
Het |
| Ei24 |
A |
G |
9: 36,693,635 (GRCm39) |
|
probably null |
Het |
| Fbxl19 |
A |
T |
7: 127,347,540 (GRCm39) |
D32V |
possibly damaging |
Het |
| Fgd5 |
G |
A |
6: 91,965,926 (GRCm39) |
V562M |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Frem2 |
A |
G |
3: 53,479,844 (GRCm39) |
C1950R |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,198,707 (GRCm39) |
D2640G |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,832 (GRCm39) |
V306A |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,858,359 (GRCm39) |
V40D |
probably damaging |
Het |
| Gcc2 |
C |
A |
10: 58,105,502 (GRCm39) |
T210K |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,750,789 (GRCm39) |
M1991K |
probably damaging |
Het |
| Gpr18 |
T |
A |
14: 122,150,017 (GRCm39) |
T3S |
probably benign |
Het |
| Herc2 |
A |
C |
7: 55,787,019 (GRCm39) |
K1621N |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,249,354 (GRCm39) |
E1300G |
probably damaging |
Het |
| Krtap19-5 |
C |
T |
16: 88,693,231 (GRCm39) |
C27Y |
unknown |
Het |
| Lrrc3b |
A |
T |
14: 15,358,076 (GRCm38) |
L177M |
probably damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,327,266 (GRCm39) |
I118T |
probably benign |
Het |
| Ncoa4-ps |
A |
G |
12: 119,226,573 (GRCm39) |
|
noncoding transcript |
Het |
| Nphp4 |
A |
G |
4: 152,641,500 (GRCm39) |
K1094E |
possibly damaging |
Het |
| Npy1r |
C |
T |
8: 67,156,711 (GRCm39) |
L44F |
possibly damaging |
Het |
| Or10aa1 |
C |
A |
1: 173,870,087 (GRCm39) |
S190R |
probably benign |
Het |
| Pcx |
C |
A |
19: 4,654,571 (GRCm39) |
R328S |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,395,505 (GRCm39) |
Y583H |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,356,311 (GRCm39) |
Y209F |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,068,766 (GRCm39) |
S1182T |
probably damaging |
Het |
| Pum1 |
A |
T |
4: 130,493,322 (GRCm39) |
I696F |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,034,905 (GRCm39) |
V254A |
probably damaging |
Het |
| Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
| Rsph4a |
A |
T |
10: 33,787,595 (GRCm39) |
I584L |
probably benign |
Het |
| Scamp5 |
A |
G |
9: 57,352,722 (GRCm39) |
V149A |
probably benign |
Het |
| Sike1 |
A |
G |
3: 102,904,694 (GRCm39) |
H134R |
possibly damaging |
Het |
| Slc12a9 |
A |
G |
5: 137,330,474 (GRCm39) |
L77P |
probably damaging |
Het |
| Spmap2l |
T |
C |
5: 77,207,214 (GRCm39) |
I324T |
probably damaging |
Het |
| Taar7f |
G |
A |
10: 23,925,417 (GRCm39) |
A4T |
probably benign |
Het |
| Tmem216 |
T |
A |
19: 10,529,237 (GRCm39) |
T104S |
probably damaging |
Het |
| Tpsg1 |
C |
T |
17: 25,593,016 (GRCm39) |
R94C |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,661,365 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,028,628 (GRCm39) |
Q82R |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,231,248 (GRCm39) |
Y525C |
probably damaging |
Het |
| Zfp532 |
T |
C |
18: 65,757,783 (GRCm39) |
V572A |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,321,814 (GRCm39) |
Q935L |
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 |
|
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'- GCGTTTTGTGCACACCAAATTG -3'
(R):5'- ATCCGTCAGAACTGGAAGC -3'
Sequencing Primer
(F):5'- AGGAACCTTTCCCTGAGA -3'
(R):5'- TCCGTCAGAACTGGAAGCTATTC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation