Incidental Mutation 'R9446:Psg21'
| ID |
713945 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R9446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18380661-18390650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18388865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 76
(T76S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094793]
[ENSMUST00000182128]
|
| AlphaFold |
Q9DAV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094793
AA Change: T76S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: T76S
| 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 benign
Transcript: ENSMUST00000182128
AA Change: T76S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: T76S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
T |
G |
2: 120,976,530 (GRCm39) |
I90S |
probably null |
Het |
| Adck2 |
G |
T |
6: 39,551,221 (GRCm39) |
|
probably benign |
Het |
| Adgrf3 |
G |
T |
5: 30,401,957 (GRCm39) |
D690E |
probably benign |
Het |
| Aff3 |
C |
T |
1: 38,574,337 (GRCm39) |
G175S |
probably benign |
Het |
| Atf7 |
T |
C |
15: 102,459,923 (GRCm39) |
H159R |
probably damaging |
Het |
| BB014433 |
GGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,091,810 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,925,491 (GRCm39) |
K2241R |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,045,362 (GRCm39) |
E1670G |
probably benign |
Het |
| Clca4b |
C |
T |
3: 144,638,134 (GRCm39) |
A43T |
probably benign |
Het |
| Clock |
T |
A |
5: 76,396,288 (GRCm39) |
I154L |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,823,677 (GRCm39) |
D566V |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,481,465 (GRCm39) |
W443R |
probably damaging |
Het |
| Ghitm |
A |
G |
14: 36,853,606 (GRCm39) |
I78T |
possibly damaging |
Het |
| Gm4181 |
A |
T |
14: 51,873,062 (GRCm39) |
M1K |
probably null |
Het |
| Gm9195 |
T |
C |
14: 72,717,957 (GRCm39) |
Y187C |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,919,272 (GRCm39) |
M8V |
probably benign |
Het |
| Ighv1-9 |
T |
C |
12: 114,547,388 (GRCm39) |
Y51C |
probably benign |
Het |
| Kif13b |
G |
A |
14: 64,984,470 (GRCm39) |
E636K |
probably damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,453,645 (GRCm39) |
M1179L |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,451,375 (GRCm39) |
A1506V |
probably damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,834,508 (GRCm39) |
S622P |
unknown |
Het |
| Med13l |
T |
A |
5: 118,876,567 (GRCm39) |
D914E |
probably benign |
Het |
| Mettl9 |
T |
A |
7: 120,675,531 (GRCm39) |
D310E |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,255,325 (GRCm39) |
V1565G |
probably benign |
Het |
| Nrf1 |
A |
G |
6: 30,090,019 (GRCm39) |
T33A |
probably damaging |
Het |
| Oas1d |
A |
G |
5: 121,054,947 (GRCm39) |
K173R |
probably benign |
Het |
| Or12e10 |
A |
T |
2: 87,640,199 (GRCm39) |
M12L |
probably benign |
Het |
| Or1e34 |
T |
A |
11: 73,778,530 (GRCm39) |
T223S |
probably benign |
Het |
| Or4k6 |
A |
G |
14: 50,475,974 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or8g54 |
A |
T |
9: 39,707,342 (GRCm39) |
S224C |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,419,067 (GRCm39) |
D814E |
probably benign |
Het |
| Pilrb2 |
T |
C |
5: 137,869,429 (GRCm39) |
D57G |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,754,808 (GRCm39) |
V1161A |
probably damaging |
Het |
| Rtl1 |
C |
G |
12: 109,556,604 (GRCm39) |
*1745S |
probably null |
Het |
| Samd8 |
T |
C |
14: 21,833,769 (GRCm39) |
C296R |
|
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,506,697 (GRCm39) |
I247T |
possibly damaging |
Het |
| Smarca4 |
G |
A |
9: 21,547,155 (GRCm39) |
A227T |
unknown |
Het |
| Trmt6 |
G |
A |
2: 132,650,774 (GRCm39) |
S278L |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,815,462 (GRCm39) |
S1183P |
possibly damaging |
Het |
| Trpm7 |
T |
A |
2: 126,672,185 (GRCm39) |
|
probably null |
Het |
| Wnt10a |
C |
A |
1: 74,842,728 (GRCm39) |
F401L |
possibly damaging |
Het |
| Zfp970 |
A |
T |
2: 177,167,064 (GRCm39) |
K213* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACGTATTTGATTCCAGTTCTC -3'
(R):5'- GCATAAGCTGAGGGATGCTC -3'
Sequencing Primer
(F):5'- ACGTATTTGATTCCAGTTCTCCATGG -3'
(R):5'- TAAGCTGAGGGATGCTCACACC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation