Incidental Mutation 'R6375:Ccser1'
ID |
514910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser1
|
Ensembl Gene |
ENSMUSG00000039578 |
Gene Name |
coiled-coil serine rich 1 |
Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
MMRRC Submission |
044525-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R6375 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 61288152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 105
(L105*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000126214]
|
AlphaFold |
Q8C0C4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045522
AA Change: L105*
|
SMART Domains |
Protein: ENSMUSP00000040251 Gene: ENSMUSG00000039578 AA Change: L105*
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 null
Transcript: ENSMUST00000126214
AA Change: L105*
|
SMART Domains |
Protein: ENSMUSP00000122894 Gene: ENSMUSG00000039578 AA Change: L105*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,606,536 (GRCm39) |
I797N |
possibly damaging |
Het |
Actbl2 |
A |
G |
13: 111,392,478 (GRCm39) |
E271G |
probably damaging |
Het |
Aplp2 |
T |
C |
9: 31,069,084 (GRCm39) |
N526D |
probably benign |
Het |
Cacna1e |
A |
C |
1: 154,355,051 (GRCm39) |
N389K |
probably damaging |
Het |
Ccdc18 |
T |
C |
5: 108,322,820 (GRCm39) |
I640T |
possibly damaging |
Het |
Ccdc39 |
T |
A |
3: 33,868,516 (GRCm39) |
T857S |
probably benign |
Het |
Efhc1 |
T |
A |
1: 21,043,164 (GRCm39) |
M361K |
probably benign |
Het |
Eml5 |
T |
C |
12: 98,765,127 (GRCm39) |
|
|
Het |
Fgfr2 |
C |
A |
7: 129,769,475 (GRCm39) |
L637F |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,492,164 (GRCm39) |
|
probably null |
Het |
Gm4302 |
A |
G |
10: 100,177,258 (GRCm39) |
T181A |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Hoxb4 |
A |
G |
11: 96,211,153 (GRCm39) |
*251W |
probably null |
Het |
Il1r1 |
T |
A |
1: 40,334,050 (GRCm39) |
Y207N |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,299,094 (GRCm39) |
T622M |
possibly damaging |
Het |
Kcnk9 |
C |
T |
15: 72,418,092 (GRCm39) |
A13T |
probably benign |
Het |
Kdm4c |
C |
T |
4: 74,248,952 (GRCm39) |
P69S |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,704,517 (GRCm39) |
S1237P |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,391,915 (GRCm39) |
T1170I |
probably benign |
Het |
Lyn |
T |
A |
4: 3,745,527 (GRCm39) |
F109I |
probably damaging |
Het |
Lynx1 |
T |
C |
15: 74,623,168 (GRCm39) |
Y88C |
probably damaging |
Het |
Mon1b |
T |
A |
8: 114,364,709 (GRCm39) |
I162N |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,555,061 (GRCm39) |
|
probably benign |
Het |
Nbn |
T |
A |
4: 15,979,327 (GRCm39) |
F437L |
probably benign |
Het |
Neil3 |
T |
C |
8: 54,040,311 (GRCm39) |
K564E |
possibly damaging |
Het |
Nfe2l1 |
A |
T |
11: 96,710,877 (GRCm39) |
S293T |
probably damaging |
Het |
Or10al5 |
T |
A |
17: 38,062,990 (GRCm39) |
S82T |
probably benign |
Het |
Or14c39 |
C |
T |
7: 86,344,267 (GRCm39) |
A201V |
probably benign |
Het |
Or2ag2 |
C |
A |
7: 106,485,221 (GRCm39) |
A268S |
probably benign |
Het |
Or51g2 |
T |
C |
7: 102,622,960 (GRCm39) |
T80A |
probably damaging |
Het |
Pcdhb22 |
A |
T |
18: 37,651,357 (GRCm39) |
|
probably benign |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,678 (GRCm39) |
N129D |
probably damaging |
Het |
Pias2 |
C |
T |
18: 77,240,366 (GRCm39) |
T574M |
possibly damaging |
Het |
Plec |
G |
A |
15: 76,061,840 (GRCm39) |
T2564I |
probably damaging |
Het |
Qrich2 |
A |
G |
11: 116,349,054 (GRCm39) |
|
probably benign |
Het |
Scgb1b12 |
T |
A |
7: 32,033,884 (GRCm39) |
V48E |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,372,422 (GRCm39) |
L224Q |
probably damaging |
Het |
Snx3 |
T |
A |
10: 42,410,727 (GRCm39) |
Y132* |
probably null |
Het |
Stk39 |
T |
A |
2: 68,222,582 (GRCm39) |
I161F |
probably benign |
Het |
Tcaf2 |
A |
C |
6: 42,603,112 (GRCm39) |
L816R |
probably damaging |
Het |
Thap4 |
C |
A |
1: 93,652,878 (GRCm39) |
|
probably null |
Het |
Tmc5 |
T |
A |
7: 118,256,037 (GRCm39) |
V704E |
probably damaging |
Het |
Tmem39a |
A |
G |
16: 38,405,599 (GRCm39) |
T59A |
probably benign |
Het |
Tshz2 |
A |
G |
2: 169,727,939 (GRCm39) |
N376S |
probably damaging |
Het |
Vmn1r60 |
T |
C |
7: 5,548,017 (GRCm39) |
N28D |
probably damaging |
Het |
Zfp637 |
C |
T |
6: 117,822,285 (GRCm39) |
R138W |
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 |
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 |
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'- TTCCAGCACTAACTCGAGCTC -3'
(R):5'- AGCAGCTTCTTGGTGGACTG -3'
Sequencing Primer
(F):5'- CACTAACTCGAGCTCAGGGAG -3'
(R):5'- TGTGAATCCAGAATCGTCCC -3'
|
Posted On |
2018-05-04 |