Incidental Mutation 'R6210:Psg21'
ID |
503401 |
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 |
044344-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R6210 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18380661-18390650 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18386270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 239
(Y239H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094793]
[ENSMUST00000182128]
|
AlphaFold |
Q9DAV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094793
AA Change: Y239H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092387 Gene: ENSMUSG00000070796 AA Change: Y239H
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 damaging
Transcript: ENSMUST00000182128
AA Change: Y239H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138173 Gene: ENSMUSG00000070796 AA Change: Y239H
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
95% (52/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
A |
18: 10,706,032 (GRCm39) |
I94F |
probably damaging |
Het |
Bbox1 |
A |
T |
2: 110,100,422 (GRCm39) |
D258E |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,378,827 (GRCm39) |
|
probably null |
Het |
Ccdc127 |
T |
C |
13: 74,505,040 (GRCm39) |
V196A |
probably benign |
Het |
Cd101 |
A |
T |
3: 100,925,959 (GRCm39) |
D253E |
probably damaging |
Het |
Ceacam15 |
T |
C |
7: 16,407,214 (GRCm39) |
Y101C |
probably damaging |
Het |
Cep135 |
C |
T |
5: 76,772,570 (GRCm39) |
L652F |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,922,633 (GRCm39) |
V234L |
probably benign |
Het |
Cxcr6 |
T |
C |
9: 123,639,073 (GRCm39) |
S25P |
possibly damaging |
Het |
Dctn4 |
C |
T |
18: 60,679,865 (GRCm39) |
Q258* |
probably null |
Het |
Fmnl2 |
A |
T |
2: 53,020,457 (GRCm39) |
N1067I |
possibly damaging |
Het |
Frrs1 |
A |
T |
3: 116,672,080 (GRCm39) |
K59N |
probably benign |
Het |
Gpr157 |
T |
C |
4: 150,186,055 (GRCm39) |
Y206H |
probably damaging |
Het |
Hephl1 |
A |
G |
9: 15,001,860 (GRCm39) |
Y161H |
possibly damaging |
Het |
Hinfp |
C |
T |
9: 44,210,169 (GRCm39) |
|
probably null |
Het |
Igf2r |
A |
T |
17: 12,933,838 (GRCm39) |
N805K |
probably damaging |
Het |
Ilrun |
A |
T |
17: 27,986,960 (GRCm39) |
D255E |
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,717 (GRCm39) |
|
probably benign |
Het |
Itga6 |
A |
G |
2: 71,664,351 (GRCm39) |
|
probably null |
Het |
Kcnip1 |
G |
A |
11: 33,595,600 (GRCm39) |
T30I |
possibly damaging |
Het |
Lig4 |
T |
C |
8: 10,021,585 (GRCm39) |
T732A |
probably benign |
Het |
Lmod3 |
T |
A |
6: 97,224,262 (GRCm39) |
T520S |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,043,145 (GRCm39) |
V1356I |
possibly damaging |
Het |
Mical3 |
C |
T |
6: 121,017,478 (GRCm39) |
|
probably null |
Het |
Msi1 |
T |
C |
5: 115,573,535 (GRCm39) |
I8T |
probably damaging |
Het |
Mug4-ps |
A |
T |
6: 121,927,276 (GRCm39) |
|
noncoding transcript |
Het |
Myo1f |
T |
A |
17: 33,820,044 (GRCm39) |
I783N |
probably damaging |
Het |
Nr6a1 |
A |
C |
2: 38,619,509 (GRCm39) |
I462S |
probably damaging |
Het |
Or2t48 |
C |
T |
11: 58,420,090 (GRCm39) |
A241T |
probably damaging |
Het |
Or8k23 |
A |
G |
2: 86,186,702 (GRCm39) |
V8A |
probably benign |
Het |
Pah |
C |
A |
10: 87,419,423 (GRCm39) |
Q449K |
probably benign |
Het |
Pced1a |
A |
G |
2: 130,263,839 (GRCm39) |
V271A |
probably damaging |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Ptprt |
T |
C |
2: 162,109,949 (GRCm39) |
Y180C |
probably damaging |
Het |
Raet1d |
T |
A |
10: 22,246,849 (GRCm39) |
I59N |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,819,647 (GRCm39) |
L653P |
probably damaging |
Het |
Rnase2a |
A |
G |
14: 51,493,131 (GRCm39) |
V78A |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Serbp1 |
T |
C |
6: 67,249,851 (GRCm39) |
|
probably benign |
Het |
Tlr1 |
A |
T |
5: 65,082,629 (GRCm39) |
H649Q |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpc6 |
T |
A |
9: 8,656,731 (GRCm39) |
D719E |
probably benign |
Het |
Ttc21b |
A |
T |
2: 66,066,698 (GRCm39) |
S318R |
probably benign |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Uhmk1 |
T |
C |
1: 170,039,806 (GRCm39) |
Q187R |
probably damaging |
Het |
Ung |
C |
T |
5: 114,269,438 (GRCm39) |
A50V |
probably benign |
Het |
Upk3bl |
C |
T |
5: 136,088,674 (GRCm39) |
Q103* |
probably null |
Het |
Usp17le |
C |
A |
7: 104,418,350 (GRCm39) |
C264F |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,448,758 (GRCm39) |
N140Y |
probably damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,222,114 (GRCm39) |
C702Y |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zfp748 |
G |
A |
13: 67,688,923 (GRCm39) |
P779L |
possibly damaging |
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 |
R6482:Psg21
|
UTSW |
7 |
18,388,664 (GRCm39) |
splice site |
probably null |
|
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'- TGTGTGACCTGTACACAGTGG -3'
(R):5'- TCCGTGTTCACAATCTTCCAGAG -3'
Sequencing Primer
(F):5'- GTGACCTGTACACAGTGGTCAAAC -3'
(R):5'- GTTCACAATCTTCCAGAGTATCTTC -3'
|
Posted On |
2018-02-27 |