Incidental Mutation 'R9801:Psg22'
ID |
735207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psg22
|
Ensembl Gene |
ENSMUSG00000044903 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 22 |
Synonyms |
cea9 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R9801 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
18452015-18461173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18456899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 261
(Y261H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051973]
[ENSMUST00000108481]
[ENSMUST00000208221]
|
AlphaFold |
Q810J1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051973
AA Change: Y222H
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000050633 Gene: ENSMUSG00000044903 AA Change: Y222H
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
IG
|
40 |
141 |
7.59e-4 |
SMART |
IG
|
160 |
261 |
1.13e-2 |
SMART |
IG
|
280 |
381 |
3.74e-3 |
SMART |
IGc2
|
397 |
461 |
7.35e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108481
AA Change: Y261H
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000104121 Gene: ENSMUSG00000044903 AA Change: Y261H
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
IG
|
79 |
180 |
7.59e-4 |
SMART |
IG
|
199 |
300 |
1.13e-2 |
SMART |
IG
|
319 |
420 |
3.74e-3 |
SMART |
IGc2
|
436 |
500 |
7.35e-11 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208221
AA Change: Y222H
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
T |
12: 72,945,540 (GRCm39) |
N330K |
probably benign |
Het |
4933402J07Rik |
A |
G |
8: 88,290,717 (GRCm39) |
E25G |
probably damaging |
Het |
Acss3 |
T |
C |
10: 106,881,091 (GRCm39) |
T297A |
possibly damaging |
Het |
Anks1 |
A |
G |
17: 28,227,033 (GRCm39) |
E562G |
possibly damaging |
Het |
Atg12 |
T |
C |
18: 46,874,460 (GRCm39) |
T52A |
probably benign |
Het |
Bbox1 |
T |
A |
2: 110,100,418 (GRCm39) |
T260S |
probably benign |
Het |
Btbd3 |
C |
T |
2: 138,122,368 (GRCm39) |
R173* |
probably null |
Het |
Cbr1 |
A |
C |
16: 93,406,687 (GRCm39) |
R134S |
probably damaging |
Het |
Cdcp2 |
A |
T |
4: 106,964,262 (GRCm39) |
I371F |
possibly damaging |
Het |
Cntrob |
T |
C |
11: 69,212,233 (GRCm39) |
E124G |
possibly damaging |
Het |
Cstf3 |
T |
C |
2: 104,421,024 (GRCm39) |
S2P |
possibly damaging |
Het |
Ctbs |
T |
C |
3: 146,169,679 (GRCm39) |
V312A |
probably damaging |
Het |
Cylc2 |
T |
A |
4: 51,228,466 (GRCm39) |
V179E |
probably null |
Het |
Dip2c |
T |
C |
13: 9,626,936 (GRCm39) |
L658P |
probably damaging |
Het |
Dus4l |
A |
G |
12: 31,698,827 (GRCm39) |
I59T |
probably damaging |
Het |
Extl3 |
A |
T |
14: 65,314,782 (GRCm39) |
N133K |
probably benign |
Het |
Fam83d |
T |
A |
2: 158,610,310 (GRCm39) |
C93S |
probably damaging |
Het |
Galr1 |
T |
C |
18: 82,423,912 (GRCm39) |
S122G |
possibly damaging |
Het |
Glra3 |
G |
A |
8: 56,563,563 (GRCm39) |
V353M |
probably damaging |
Het |
H2-M10.4 |
A |
T |
17: 36,771,511 (GRCm39) |
N222K |
probably damaging |
Het |
Klra7 |
C |
T |
6: 130,205,477 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
A |
13: 13,809,290 (GRCm39) |
V320E |
probably damaging |
Het |
Me3 |
A |
C |
7: 89,435,657 (GRCm39) |
D164A |
probably damaging |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Nbr1 |
C |
A |
11: 101,447,025 (GRCm39) |
Q4K |
probably damaging |
Het |
Nr1i3 |
T |
C |
1: 171,045,252 (GRCm39) |
L300P |
probably damaging |
Het |
Pemt |
T |
A |
11: 59,874,287 (GRCm39) |
N101I |
probably damaging |
Het |
Pkd1l1 |
C |
A |
11: 8,908,964 (GRCm39) |
E347* |
probably null |
Het |
Plxna4 |
C |
T |
6: 32,140,526 (GRCm39) |
|
probably null |
Het |
Polq |
C |
T |
16: 36,913,190 (GRCm39) |
R2420C |
probably damaging |
Het |
Pum1 |
C |
T |
4: 130,481,328 (GRCm39) |
S722L |
probably benign |
Het |
Rbl2 |
T |
C |
8: 91,822,229 (GRCm39) |
Y464H |
probably benign |
Het |
Rnf145 |
T |
A |
11: 44,448,112 (GRCm39) |
I323N |
probably damaging |
Het |
Rxylt1 |
T |
A |
10: 121,926,608 (GRCm39) |
N168I |
probably damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,580 (GRCm39) |
V40E |
probably damaging |
Het |
Slmap |
G |
A |
14: 26,143,595 (GRCm39) |
A764V |
probably damaging |
Het |
Smarca4 |
G |
T |
9: 21,586,397 (GRCm39) |
L1139F |
probably damaging |
Het |
Svil |
A |
G |
18: 5,049,062 (GRCm39) |
E113G |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,932,235 (GRCm39) |
S196P |
probably benign |
Het |
Tcp10b |
A |
G |
17: 13,281,867 (GRCm39) |
E79G |
possibly damaging |
Het |
Tet3 |
T |
A |
6: 83,346,436 (GRCm39) |
N1334Y |
possibly damaging |
Het |
Tll2 |
A |
G |
19: 41,194,993 (GRCm39) |
V31A |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,045,263 (GRCm39) |
I475T |
probably benign |
Het |
Uba3 |
T |
A |
6: 97,162,635 (GRCm39) |
D387V |
probably benign |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Zfp260 |
T |
C |
7: 29,804,937 (GRCm39) |
I279T |
possibly damaging |
Het |
|
Other mutations in Psg22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00797:Psg22
|
APN |
7 |
18,452,200 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00839:Psg22
|
APN |
7 |
18,456,893 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00898:Psg22
|
APN |
7 |
18,458,392 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02262:Psg22
|
APN |
7 |
18,458,496 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02678:Psg22
|
APN |
7 |
18,453,418 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02749:Psg22
|
APN |
7 |
18,456,944 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02928:Psg22
|
APN |
7 |
18,453,458 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02977:Psg22
|
APN |
7 |
18,453,524 (GRCm39) |
missense |
probably benign |
0.20 |
R0470:Psg22
|
UTSW |
7 |
18,453,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R1902:Psg22
|
UTSW |
7 |
18,458,363 (GRCm39) |
nonsense |
probably null |
|
R1935:Psg22
|
UTSW |
7 |
18,453,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R1936:Psg22
|
UTSW |
7 |
18,453,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R2013:Psg22
|
UTSW |
7 |
18,453,560 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2278:Psg22
|
UTSW |
7 |
18,460,762 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4258:Psg22
|
UTSW |
7 |
18,458,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5029:Psg22
|
UTSW |
7 |
18,453,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R5885:Psg22
|
UTSW |
7 |
18,452,257 (GRCm39) |
missense |
probably damaging |
0.98 |
R6084:Psg22
|
UTSW |
7 |
18,453,705 (GRCm39) |
missense |
probably benign |
0.01 |
R6143:Psg22
|
UTSW |
7 |
18,456,723 (GRCm39) |
missense |
probably benign |
0.03 |
R6209:Psg22
|
UTSW |
7 |
18,453,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R7017:Psg22
|
UTSW |
7 |
18,458,366 (GRCm39) |
missense |
probably benign |
0.01 |
R7337:Psg22
|
UTSW |
7 |
18,453,499 (GRCm39) |
missense |
probably benign |
0.20 |
R7417:Psg22
|
UTSW |
7 |
18,456,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R7460:Psg22
|
UTSW |
7 |
18,458,329 (GRCm39) |
missense |
probably benign |
0.03 |
R7570:Psg22
|
UTSW |
7 |
18,456,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7650:Psg22
|
UTSW |
7 |
18,460,684 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7711:Psg22
|
UTSW |
7 |
18,452,267 (GRCm39) |
critical splice donor site |
probably null |
|
R7991:Psg22
|
UTSW |
7 |
18,460,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R8001:Psg22
|
UTSW |
7 |
18,453,671 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8003:Psg22
|
UTSW |
7 |
18,458,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R8066:Psg22
|
UTSW |
7 |
18,452,218 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8113:Psg22
|
UTSW |
7 |
18,456,987 (GRCm39) |
missense |
probably benign |
0.00 |
R9136:Psg22
|
UTSW |
7 |
18,460,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Psg22
|
UTSW |
7 |
18,460,682 (GRCm39) |
missense |
probably benign |
0.09 |
R9152:Psg22
|
UTSW |
7 |
18,460,646 (GRCm39) |
missense |
probably damaging |
0.97 |
R9344:Psg22
|
UTSW |
7 |
18,460,816 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9666:Psg22
|
UTSW |
7 |
18,458,248 (GRCm39) |
missense |
probably benign |
|
X0064:Psg22
|
UTSW |
7 |
18,452,106 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Psg22
|
UTSW |
7 |
18,453,602 (GRCm39) |
missense |
probably benign |
0.19 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTATTGAATCAGTGCCAGCCAG -3'
(R):5'- ACAGGAGGTAGTCACATGCC -3'
Sequencing Primer
(F):5'- AGTGCCAGCCAGCGTTG -3'
(R):5'- TAGTCACATGCCAGCAGTG -3'
|
Posted On |
2022-11-14 |