Incidental Mutation 'IGL02742:Serpinb3c'
| ID |
305928 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb3c
|
| Ensembl Gene |
ENSMUSG00000073601 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 3C |
| Synonyms |
ovalbumin, Serpinb4, 1110013A16Rik, 1110001H02Rik, Scca2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL02742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107198931-107206101 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 107200872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 182
(R182*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027565]
[ENSMUST00000166100]
|
| AlphaFold |
A2RSF9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027565
AA Change: R182*
|
| SMART Domains |
Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: R182*
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
386 |
7.91e-169 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166100
|
| SMART Domains |
Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 103,972,824 (GRCm39) |
T506A |
probably damaging |
Het |
| Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,139,096 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,217,699 (GRCm39) |
P326S |
probably damaging |
Het |
| Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
| Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
| Napg |
A |
T |
18: 63,119,319 (GRCm39) |
T110S |
probably damaging |
Het |
| Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
| Phyhip |
A |
G |
14: 70,699,367 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
| Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
| St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
C |
T |
2: 32,487,096 (GRCm39) |
R264C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
| Tmem219 |
A |
G |
7: 126,496,220 (GRCm39) |
L74P |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
| Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
| Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
| Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
| Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
C |
A |
4: 62,110,548 (GRCm39) |
C172F |
possibly damaging |
Het |
|
| Other mutations in Serpinb3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00847:Serpinb3c
|
APN |
1 |
107,203,990 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01349:Serpinb3c
|
APN |
1 |
107,200,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Serpinb3c
|
APN |
1 |
107,200,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01732:Serpinb3c
|
APN |
1 |
107,199,702 (GRCm39) |
missense |
probably benign |
|
|
IGL02184:Serpinb3c
|
APN |
1 |
107,199,648 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03131:Serpinb3c
|
APN |
1 |
107,199,457 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03394:Serpinb3c
|
APN |
1 |
107,199,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB001:Serpinb3c
|
UTSW |
1 |
107,200,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Serpinb3c
|
UTSW |
1 |
107,200,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Serpinb3c
|
UTSW |
1 |
107,204,722 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0508:Serpinb3c
|
UTSW |
1 |
107,204,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Serpinb3c
|
UTSW |
1 |
107,200,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Serpinb3c
|
UTSW |
1 |
107,199,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Serpinb3c
|
UTSW |
1 |
107,199,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Serpinb3c
|
UTSW |
1 |
107,199,574 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5361:Serpinb3c
|
UTSW |
1 |
107,204,661 (GRCm39) |
nonsense |
probably null |
|
|
R5464:Serpinb3c
|
UTSW |
1 |
107,199,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5636:Serpinb3c
|
UTSW |
1 |
107,202,744 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5677:Serpinb3c
|
UTSW |
1 |
107,199,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Serpinb3c
|
UTSW |
1 |
107,204,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6424:Serpinb3c
|
UTSW |
1 |
107,199,359 (GRCm39) |
makesense |
probably null |
|
|
R7132:Serpinb3c
|
UTSW |
1 |
107,204,681 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7161:Serpinb3c
|
UTSW |
1 |
107,200,892 (GRCm39) |
missense |
probably null |
1.00 |
|
R7319:Serpinb3c
|
UTSW |
1 |
107,200,817 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7437:Serpinb3c
|
UTSW |
1 |
107,199,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Serpinb3c
|
UTSW |
1 |
107,200,883 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7922:Serpinb3c
|
UTSW |
1 |
107,199,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Serpinb3c
|
UTSW |
1 |
107,200,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Serpinb3c
|
UTSW |
1 |
107,204,034 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8189:Serpinb3c
|
UTSW |
1 |
107,204,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8384:Serpinb3c
|
UTSW |
1 |
107,199,697 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9042:Serpinb3c
|
UTSW |
1 |
107,199,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9518:Serpinb3c
|
UTSW |
1 |
107,200,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9566:Serpinb3c
|
UTSW |
1 |
107,200,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation