Incidental Mutation 'IGL02870:Ccser1'
| ID |
362551 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL02870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61288276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 146
(N146K)
|
| 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: N146K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: N146K
| 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: N146K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: N146K
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,711,851 (GRCm39) |
V1042M |
probably benign |
Het |
| Agmat |
C |
A |
4: 141,474,253 (GRCm39) |
H45N |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,258,936 (GRCm39) |
V520D |
probably damaging |
Het |
| Cdhr4 |
T |
A |
9: 107,875,263 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
| Cyp3a59 |
T |
C |
5: 146,034,994 (GRCm39) |
I224T |
probably benign |
Het |
| Ddx19a |
G |
T |
8: 111,710,258 (GRCm39) |
P114Q |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,753,452 (GRCm39) |
V275A |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,881,026 (GRCm39) |
S627P |
probably damaging |
Het |
| Flywch1 |
C |
T |
17: 23,974,876 (GRCm39) |
G541D |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,340,430 (GRCm39) |
D317G |
probably damaging |
Het |
| H2-M5 |
T |
C |
17: 37,299,925 (GRCm39) |
E83G |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,154,037 (GRCm39) |
F658L |
probably damaging |
Het |
| Hmmr |
G |
T |
11: 40,604,902 (GRCm39) |
Q390K |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,461,416 (GRCm39) |
T2548S |
probably benign |
Het |
| Or1j13 |
G |
A |
2: 36,370,043 (GRCm39) |
A33V |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,104,768 (GRCm39) |
R684W |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,493,722 (GRCm39) |
V315M |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,836,673 (GRCm39) |
K115* |
probably null |
Het |
| Plcxd1 |
A |
G |
5: 110,249,271 (GRCm39) |
T33A |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,193,262 (GRCm39) |
S931P |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,584,007 (GRCm39) |
Y500H |
probably damaging |
Het |
| Rfx8 |
C |
T |
1: 39,722,871 (GRCm39) |
V249I |
possibly damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,889,867 (GRCm39) |
I599L |
unknown |
Het |
| Sardh |
A |
T |
2: 27,125,503 (GRCm39) |
I337N |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,378,017 (GRCm39) |
M237L |
probably damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,809,303 (GRCm39) |
S97G |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,861,354 (GRCm39) |
D2520G |
probably benign |
Het |
| Tnfrsf11b |
C |
T |
15: 54,119,423 (GRCm39) |
V184M |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,763,117 (GRCm39) |
V764E |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,655,057 (GRCm39) |
A430E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,949 (GRCm39) |
R23315G |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,731,813 (GRCm39) |
I478M |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,410,555 (GRCm39) |
V2401A |
probably benign |
Het |
| Vill |
T |
C |
9: 118,890,967 (GRCm39) |
L191P |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,355 (GRCm39) |
V159A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,421,740 (GRCm39) |
N939K |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,337 (GRCm39) |
V2926A |
probably damaging |
Het |
| Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
Het |
| Zfp12 |
C |
A |
5: 143,231,086 (GRCm39) |
T471N |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation