Incidental Mutation 'R6482:Psg21'
ID |
517820 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psg21
|
Ensembl Gene |
ENSMUSG00000070796 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 21 |
Synonyms |
1600019C01Rik, 1600026N13Rik, 1600025N01Rik, cea8 |
MMRRC Submission |
044614-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R6482 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18380661-18390650 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to T
at 18388664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094793]
[ENSMUST00000182128]
|
AlphaFold |
Q9DAV5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094793
|
SMART Domains |
Protein: ENSMUSP00000092387 Gene: ENSMUSG00000070796
Domain | Start | End | E-Value | Type |
IG
|
39 |
138 |
3.04e-3 |
SMART |
IG
|
159 |
260 |
7.25e-1 |
SMART |
IG
|
276 |
375 |
1.25e-4 |
SMART |
IGc2
|
393 |
457 |
1.47e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182128
|
SMART Domains |
Protein: ENSMUSP00000138173 Gene: ENSMUSG00000070796
Domain | Start | End | E-Value | Type |
IG
|
39 |
138 |
3.04e-3 |
SMART |
IG
|
159 |
260 |
7.25e-1 |
SMART |
IG
|
276 |
375 |
1.25e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182228
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182933
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadvl |
T |
C |
11: 69,902,388 (GRCm39) |
I415V |
probably benign |
Het |
Akap8l |
A |
G |
17: 32,564,370 (GRCm39) |
F6L |
possibly damaging |
Het |
Ano3 |
T |
A |
2: 110,527,400 (GRCm39) |
N603Y |
probably damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,634,813 (GRCm39) |
S116P |
probably damaging |
Het |
Ccdc110 |
A |
T |
8: 46,395,825 (GRCm39) |
Q572L |
probably benign |
Het |
Chit1 |
T |
C |
1: 134,070,980 (GRCm39) |
S20P |
probably damaging |
Het |
Col22a1 |
G |
A |
15: 71,762,338 (GRCm39) |
P107L |
possibly damaging |
Het |
Dpys |
T |
C |
15: 39,705,369 (GRCm39) |
H248R |
probably damaging |
Het |
Dsg2 |
A |
T |
18: 20,734,371 (GRCm39) |
K783I |
possibly damaging |
Het |
Efnb2 |
A |
T |
8: 8,670,637 (GRCm39) |
V321E |
probably damaging |
Het |
Eif1ad13 |
A |
G |
12: 87,762,565 (GRCm39) |
Y95C |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
Gm35315 |
A |
T |
5: 110,225,955 (GRCm39) |
C495S |
possibly damaging |
Het |
Hrh1 |
A |
G |
6: 114,457,724 (GRCm39) |
Q335R |
possibly damaging |
Het |
Il12rb2 |
A |
G |
6: 67,333,670 (GRCm39) |
L203P |
probably damaging |
Het |
Itgav |
T |
C |
2: 83,624,614 (GRCm39) |
S735P |
probably damaging |
Het |
Klrg1 |
G |
T |
6: 122,248,412 (GRCm39) |
C162* |
probably null |
Het |
Mcc |
T |
C |
18: 44,578,931 (GRCm39) |
S651G |
possibly damaging |
Het |
Nkx2-2 |
T |
A |
2: 147,027,896 (GRCm39) |
I15F |
probably damaging |
Het |
Nppa |
G |
A |
4: 148,085,328 (GRCm39) |
V13I |
probably benign |
Het |
Obi1 |
A |
T |
14: 104,717,253 (GRCm39) |
C373* |
probably null |
Het |
Or8i2 |
G |
C |
2: 86,852,869 (GRCm39) |
F6L |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,150,244 (GRCm39) |
N228D |
probably benign |
Het |
Pgpep1l |
C |
T |
7: 67,888,815 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
A |
G |
12: 76,622,778 (GRCm39) |
N673D |
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,493,672 (GRCm39) |
S315P |
probably benign |
Het |
Rnf111 |
T |
C |
9: 70,336,889 (GRCm39) |
T925A |
probably damaging |
Het |
Spag9 |
T |
C |
11: 93,984,328 (GRCm39) |
F734L |
possibly damaging |
Het |
Tarbp1 |
A |
G |
8: 127,177,434 (GRCm39) |
V746A |
probably benign |
Het |
Tmtc1 |
A |
G |
6: 148,314,243 (GRCm39) |
F119L |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,057,244 (GRCm39) |
M576T |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,362,232 (GRCm39) |
V765E |
probably damaging |
Het |
Vmn1r20 |
A |
G |
6: 57,409,093 (GRCm39) |
S140G |
probably benign |
Het |
Vwde |
A |
G |
6: 13,205,843 (GRCm39) |
S235P |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,414,649 (GRCm39) |
S504G |
probably benign |
Het |
Wnt5b |
A |
T |
6: 119,410,573 (GRCm39) |
L289Q |
possibly damaging |
Het |
Zfp142 |
G |
A |
1: 74,609,376 (GRCm39) |
|
probably null |
Het |
Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
Zfp948 |
A |
G |
17: 21,807,813 (GRCm39) |
H335R |
probably benign |
Het |
|
Other mutations in Psg21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01571:Psg21
|
APN |
7 |
18,388,750 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02390:Psg21
|
APN |
7 |
18,386,556 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02548:Psg21
|
APN |
7 |
18,388,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03001:Psg21
|
APN |
7 |
18,386,410 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03135:Psg21
|
APN |
7 |
18,388,843 (GRCm39) |
missense |
probably benign |
0.00 |
R0131:Psg21
|
UTSW |
7 |
18,388,793 (GRCm39) |
missense |
probably benign |
0.39 |
R0551:Psg21
|
UTSW |
7 |
18,386,565 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1512:Psg21
|
UTSW |
7 |
18,390,425 (GRCm39) |
missense |
probably benign |
0.00 |
R1874:Psg21
|
UTSW |
7 |
18,384,741 (GRCm39) |
missense |
probably benign |
0.15 |
R1993:Psg21
|
UTSW |
7 |
18,388,695 (GRCm39) |
missense |
probably benign |
0.04 |
R2327:Psg21
|
UTSW |
7 |
18,386,378 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3414:Psg21
|
UTSW |
7 |
18,386,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Psg21
|
UTSW |
7 |
18,381,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R5138:Psg21
|
UTSW |
7 |
18,390,453 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
R5623:Psg21
|
UTSW |
7 |
18,388,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R5686:Psg21
|
UTSW |
7 |
18,386,183 (GRCm39) |
intron |
probably benign |
|
R6166:Psg21
|
UTSW |
7 |
18,390,664 (GRCm39) |
unclassified |
probably benign |
|
R6177:Psg21
|
UTSW |
7 |
18,386,279 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6190:Psg21
|
UTSW |
7 |
18,388,926 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6210:Psg21
|
UTSW |
7 |
18,386,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R6729:Psg21
|
UTSW |
7 |
18,386,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R6866:Psg21
|
UTSW |
7 |
18,386,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R6992:Psg21
|
UTSW |
7 |
18,388,668 (GRCm39) |
critical splice donor site |
probably null |
|
R7075:Psg21
|
UTSW |
7 |
18,388,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R7081:Psg21
|
UTSW |
7 |
18,388,774 (GRCm39) |
nonsense |
probably null |
|
R7098:Psg21
|
UTSW |
7 |
18,386,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R7582:Psg21
|
UTSW |
7 |
18,381,128 (GRCm39) |
makesense |
probably null |
|
R7588:Psg21
|
UTSW |
7 |
18,381,134 (GRCm39) |
missense |
probably benign |
0.00 |
R7607:Psg21
|
UTSW |
7 |
18,388,708 (GRCm39) |
missense |
probably benign |
0.02 |
R7830:Psg21
|
UTSW |
7 |
18,381,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R7964:Psg21
|
UTSW |
7 |
18,381,136 (GRCm39) |
missense |
probably benign |
0.01 |
R8758:Psg21
|
UTSW |
7 |
18,384,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R8972:Psg21
|
UTSW |
7 |
18,381,293 (GRCm39) |
missense |
probably benign |
0.03 |
R8988:Psg21
|
UTSW |
7 |
18,386,389 (GRCm39) |
missense |
probably benign |
0.00 |
R9119:Psg21
|
UTSW |
7 |
18,381,409 (GRCm39) |
missense |
probably benign |
0.14 |
R9446:Psg21
|
UTSW |
7 |
18,388,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACAGAGGCTGATGTCCTTG -3'
(R):5'- CAAGTATGACAGGGCCTGAG -3'
Sequencing Primer
(F):5'- TGGAATCAAATGAGGGATTCTGCAC -3'
(R):5'- GGCCTGAGCACAGTGATAG -3'
|
Posted On |
2018-05-21 |