Incidental Mutation 'R9518:Serpinb3c'
ID |
718690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb3c
|
Ensembl Gene |
ENSMUSG00000073601 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 3C |
Synonyms |
ovalbumin, Serpinb4, 1110013A16Rik, 1110001H02Rik, Scca2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R9518 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
107198931-107206101 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107200468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 225
(Q225L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027565
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027565]
[ENSMUST00000166100]
|
AlphaFold |
A2RSF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027565
AA Change: Q225L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027565 Gene: ENSMUSG00000073601 AA Change: Q225L
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
T |
C |
5: 24,771,560 (GRCm39) |
T556A |
possibly damaging |
Het |
B230104I21Rik |
G |
T |
4: 154,434,004 (GRCm39) |
E63* |
probably null |
Het |
Brd10 |
A |
T |
19: 29,731,541 (GRCm39) |
H490Q |
possibly damaging |
Het |
Brpf1 |
A |
G |
6: 113,286,795 (GRCm39) |
K8E |
possibly damaging |
Het |
Cacna1i |
G |
A |
15: 80,271,978 (GRCm39) |
G1582D |
probably damaging |
Het |
Ccdc162 |
T |
A |
10: 41,465,572 (GRCm39) |
D1428V |
probably damaging |
Het |
Ccdc178 |
G |
A |
18: 22,278,516 (GRCm39) |
T69I |
possibly damaging |
Het |
Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
Cps1 |
G |
T |
1: 67,259,662 (GRCm39) |
V1335L |
probably damaging |
Het |
Desi2 |
A |
G |
1: 178,015,492 (GRCm39) |
N4S |
probably benign |
Het |
Dlx6 |
C |
A |
6: 6,863,406 (GRCm39) |
D9E |
probably damaging |
Het |
Dnah12 |
A |
C |
14: 26,495,713 (GRCm39) |
D198A |
probably damaging |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Dpp8 |
T |
C |
9: 64,981,866 (GRCm39) |
M716T |
possibly damaging |
Het |
Dvl3 |
T |
A |
16: 20,335,961 (GRCm39) |
I6N |
possibly damaging |
Het |
Egflam |
A |
G |
15: 7,319,263 (GRCm39) |
|
probably null |
Het |
Eprs1 |
A |
T |
1: 185,111,763 (GRCm39) |
M258L |
probably benign |
Het |
Etnk1 |
A |
T |
6: 143,149,144 (GRCm39) |
M352L |
probably benign |
Het |
Fam124a |
A |
C |
14: 62,824,947 (GRCm39) |
D147A |
probably damaging |
Het |
Fstl4 |
A |
G |
11: 53,056,647 (GRCm39) |
D468G |
possibly damaging |
Het |
Grm8 |
T |
A |
6: 27,429,469 (GRCm39) |
Q475L |
probably benign |
Het |
Kel |
T |
C |
6: 41,679,334 (GRCm39) |
E143G |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,840,676 (GRCm39) |
Y1147H |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,519,827 (GRCm39) |
K1729E |
probably damaging |
Het |
Map4k1 |
G |
A |
7: 28,693,496 (GRCm39) |
R433H |
probably benign |
Het |
Mettl14 |
T |
C |
3: 123,167,687 (GRCm39) |
I224V |
probably benign |
Het |
Mgat5b |
A |
G |
11: 116,869,299 (GRCm39) |
N614S |
probably benign |
Het |
Mlh3 |
C |
T |
12: 85,313,004 (GRCm39) |
V1061I |
probably benign |
Het |
Mtcl3 |
T |
A |
10: 29,022,748 (GRCm39) |
C32S |
probably benign |
Het |
Myo1h |
T |
C |
5: 114,497,588 (GRCm39) |
V27A |
probably damaging |
Het |
Naip5 |
A |
T |
13: 100,358,367 (GRCm39) |
H956Q |
probably benign |
Het |
Or11h7 |
A |
T |
14: 50,891,101 (GRCm39) |
M136L |
probably damaging |
Het |
Or13p3 |
A |
G |
4: 118,567,120 (GRCm39) |
N172S |
probably damaging |
Het |
Pcdh7 |
A |
T |
5: 58,070,513 (GRCm39) |
T1064S |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,714,280 (GRCm39) |
E314G |
probably benign |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pgr |
A |
T |
9: 8,922,645 (GRCm39) |
D605V |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,860,579 (GRCm39) |
S904G |
possibly damaging |
Het |
Prpf8 |
T |
C |
11: 75,394,486 (GRCm39) |
I1807T |
possibly damaging |
Het |
Strn3 |
A |
C |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
Tent2 |
A |
G |
13: 93,320,612 (GRCm39) |
I147T |
probably benign |
Het |
Tgm2 |
C |
T |
2: 157,985,049 (GRCm39) |
R19H |
probably benign |
Het |
Themis |
T |
A |
10: 28,544,748 (GRCm39) |
|
probably null |
Het |
Trim28 |
C |
T |
7: 12,764,445 (GRCm39) |
P753S |
probably damaging |
Het |
Vac14 |
C |
T |
8: 111,442,070 (GRCm39) |
Q683* |
probably null |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Zfp541 |
T |
C |
7: 15,813,036 (GRCm39) |
I563T |
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 |
IGL02742:Serpinb3c
|
APN |
1 |
107,200,872 (GRCm39) |
nonsense |
probably null |
|
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 |
R9566:Serpinb3c
|
UTSW |
1 |
107,200,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGGTGAGACACAATATCTCCC -3'
(R):5'- TCAGGGTTCTATCTTCAAAGAATGC -3'
Sequencing Primer
(F):5'- GTGAGACACAATATCTCCCTTTAAAC -3'
(R):5'- CAAAGAATGCTGATTTGTTTGGAGTC -3'
|
Posted On |
2022-07-18 |