Incidental Mutation 'R7905:Psg26'
| ID |
610219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg26
|
| Ensembl Gene |
ENSMUSG00000070799 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 26 |
| Synonyms |
EG574429, cea14 |
| MMRRC Submission |
045957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R7905 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18208507-18218102 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18209242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 389
(M389L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094798]
|
| AlphaFold |
Q4KL65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094798
AA Change: M389L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000092392
Gene: ENSMUSG00000070799
AA Change: M389L
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
4.93e-3 |
SMART |
|
IG
|
160 |
261 |
2.39e-1 |
SMART |
|
IG
|
280 |
379 |
6.07e-3 |
SMART |
|
IGc2
|
397 |
461 |
5.48e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
T |
C |
17: 33,652,801 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adcy10 |
T |
A |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
| Aox1 |
G |
A |
1: 58,143,557 (GRCm39) |
S1225N |
possibly damaging |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,988 (GRCm39) |
S96R |
probably benign |
Het |
| Bpifa5 |
T |
C |
2: 154,007,508 (GRCm39) |
I150T |
probably damaging |
Het |
| Ccdc28a |
A |
T |
10: 18,094,076 (GRCm39) |
V181D |
probably benign |
Het |
| Cd40 |
T |
C |
2: 164,904,245 (GRCm39) |
Y31H |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,390,352 (GRCm39) |
T2032A |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 18,907,100 (GRCm39) |
K158R |
possibly damaging |
Het |
| Degs1 |
A |
C |
1: 182,106,601 (GRCm39) |
N255K |
possibly damaging |
Het |
| Dll3 |
T |
G |
7: 28,000,960 (GRCm39) |
I32L |
possibly damaging |
Het |
| Dsg4 |
A |
T |
18: 20,587,726 (GRCm39) |
I278F |
probably damaging |
Het |
| Ets2 |
T |
A |
16: 95,507,304 (GRCm39) |
I6N |
probably damaging |
Het |
| Gbp4 |
A |
G |
5: 105,268,953 (GRCm39) |
F400S |
probably damaging |
Het |
| Golgb1 |
C |
T |
16: 36,734,047 (GRCm39) |
A1139V |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,046,419 (GRCm39) |
L489H |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,831 (GRCm39) |
D99G |
probably benign |
Het |
| Ldhc |
A |
G |
7: 46,524,955 (GRCm39) |
|
probably null |
Het |
| Mief1 |
C |
G |
15: 80,133,599 (GRCm39) |
P219A |
probably damaging |
Het |
| Myh11 |
A |
T |
16: 14,025,545 (GRCm39) |
Y1408* |
probably null |
Het |
| Myo1b |
A |
G |
1: 51,803,043 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
A |
T |
9: 72,584,661 (GRCm39) |
K121* |
probably null |
Het |
| Nek9 |
A |
C |
12: 85,352,370 (GRCm39) |
M831R |
probably damaging |
Het |
| Nf1 |
G |
A |
11: 79,437,938 (GRCm39) |
A83T |
possibly damaging |
Het |
| Or6c203 |
A |
T |
10: 129,010,056 (GRCm39) |
I278N |
probably damaging |
Het |
| Osbpl10 |
T |
C |
9: 114,891,078 (GRCm39) |
|
probably null |
Het |
| Pcdhb6 |
T |
C |
18: 37,467,607 (GRCm39) |
L176P |
probably benign |
Het |
| Plxnb1 |
G |
A |
9: 108,938,300 (GRCm39) |
V1285M |
probably damaging |
Het |
| Slc49a4 |
G |
A |
16: 35,589,320 (GRCm39) |
P98S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,098,495 (GRCm39) |
E543G |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,131,936 (GRCm39) |
I358T |
probably benign |
Het |
| Spink7 |
G |
T |
18: 62,725,487 (GRCm39) |
C85* |
probably null |
Het |
| Stard9 |
T |
C |
2: 120,526,562 (GRCm39) |
W940R |
not run |
Het |
| Susd2 |
A |
T |
10: 75,475,491 (GRCm39) |
L471* |
probably null |
Het |
| Taf2 |
A |
T |
15: 54,910,828 (GRCm39) |
D615E |
possibly damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,192,659 (GRCm39) |
S14P |
|
Het |
| Tha1 |
A |
C |
11: 117,761,893 (GRCm39) |
V116G |
possibly damaging |
Het |
| Trim46 |
T |
C |
3: 89,151,633 (GRCm39) |
H50R |
probably damaging |
Het |
| Trit1 |
A |
G |
4: 122,910,508 (GRCm39) |
K36E |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,415,335 (GRCm39) |
M268K |
probably benign |
Het |
| Ufc1 |
T |
A |
1: 171,117,508 (GRCm39) |
K68N |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 74,992,820 (GRCm39) |
T225A |
probably benign |
Het |
| Zfp768 |
T |
C |
7: 126,943,831 (GRCm39) |
E102G |
probably damaging |
Het |
|
| Other mutations in Psg26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:Psg26
|
APN |
7 |
18,212,255 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01383:Psg26
|
APN |
7 |
18,214,179 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01453:Psg26
|
APN |
7 |
18,213,999 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01603:Psg26
|
APN |
7 |
18,209,028 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02201:Psg26
|
APN |
7 |
18,214,071 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02468:Psg26
|
APN |
7 |
18,212,387 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02648:Psg26
|
APN |
7 |
18,216,691 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02812:Psg26
|
APN |
7 |
18,209,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0226:Psg26
|
UTSW |
7 |
18,217,883 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0352:Psg26
|
UTSW |
7 |
18,209,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0369:Psg26
|
UTSW |
7 |
18,216,481 (GRCm39) |
nonsense |
probably null |
|
|
R0718:Psg26
|
UTSW |
7 |
18,212,212 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0718:Psg26
|
UTSW |
7 |
18,209,160 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1710:Psg26
|
UTSW |
7 |
18,213,966 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1899:Psg26
|
UTSW |
7 |
18,212,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1958:Psg26
|
UTSW |
7 |
18,212,264 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2102:Psg26
|
UTSW |
7 |
18,209,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3766:Psg26
|
UTSW |
7 |
18,208,996 (GRCm39) |
missense |
probably benign |
|
|
R4544:Psg26
|
UTSW |
7 |
18,212,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Psg26
|
UTSW |
7 |
18,209,235 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5000:Psg26
|
UTSW |
7 |
18,214,057 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5376:Psg26
|
UTSW |
7 |
18,214,030 (GRCm39) |
missense |
probably benign |
|
|
R5416:Psg26
|
UTSW |
7 |
18,216,525 (GRCm39) |
missense |
probably benign |
|
|
R5435:Psg26
|
UTSW |
7 |
18,212,398 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6000:Psg26
|
UTSW |
7 |
18,216,617 (GRCm39) |
nonsense |
probably null |
|
|
R6285:Psg26
|
UTSW |
7 |
18,216,753 (GRCm39) |
missense |
probably benign |
|
|
R7062:Psg26
|
UTSW |
7 |
18,216,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Psg26
|
UTSW |
7 |
18,213,934 (GRCm39) |
nonsense |
probably null |
|
|
R7513:Psg26
|
UTSW |
7 |
18,209,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7817:Psg26
|
UTSW |
7 |
18,216,572 (GRCm39) |
missense |
not run |
|
|
R7857:Psg26
|
UTSW |
7 |
18,212,215 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8047:Psg26
|
UTSW |
7 |
18,212,474 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8789:Psg26
|
UTSW |
7 |
18,216,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8877:Psg26
|
UTSW |
7 |
18,217,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9012:Psg26
|
UTSW |
7 |
18,216,596 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9203:Psg26
|
UTSW |
7 |
18,212,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9327:Psg26
|
UTSW |
7 |
18,216,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9547:Psg26
|
UTSW |
7 |
18,214,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Psg26
|
UTSW |
7 |
18,214,216 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACTGGTCTTTGAGCTGAC -3'
(R):5'- TTGGCAAATGCAAAGCACAC -3'
Sequencing Primer
(F):5'- TGAAGGCCTCACATTGGTAC -3'
(R):5'- CACGATATGAGTGTAGTCACAGTTCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation