Incidental Mutation 'R6718:Pigu'
| ID |
529457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigu
|
| Ensembl Gene |
ENSMUSG00000038383 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class U |
| Synonyms |
5430426F17Rik, Cdc91l1 |
| MMRRC Submission |
044836-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6718 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155120163-155199344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155143206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 232
(Y232H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077626]
[ENSMUST00000165234]
|
| AlphaFold |
Q8K358 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077626
AA Change: Y233H
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000076816
Gene: ENSMUSG00000038383
AA Change: Y233H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-U
|
10 |
394 |
2.6e-119 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139854
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165234
AA Change: Y232H
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126236
Gene: ENSMUSG00000038383
AA Change: Y232H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-U
|
10 |
393 |
1.7e-116 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
A |
18: 67,554,346 (GRCm39) |
T452I |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,034,015 (GRCm39) |
I180T |
probably benign |
Het |
| Cdh18 |
A |
G |
15: 23,226,835 (GRCm39) |
T45A |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,606,887 (GRCm39) |
Y512F |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,560,884 (GRCm39) |
F38S |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,698 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
TATGCTGCTG |
TATGCTGCTGATGCTGCTG |
15: 98,747,467 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,748,420 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,314,124 (GRCm39) |
H2202Q |
probably benign |
Het |
| Maf |
C |
A |
8: 116,433,539 (GRCm39) |
V22F |
unknown |
Het |
| Mrgpra3 |
C |
T |
7: 47,239,444 (GRCm39) |
V161M |
probably benign |
Het |
| Or7g33 |
G |
T |
9: 19,448,495 (GRCm39) |
H244N |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,412 (GRCm39) |
|
probably benign |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pex11a |
A |
G |
7: 79,387,230 (GRCm39) |
F201L |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,860,307 (GRCm39) |
I40T |
probably damaging |
Het |
| Pura |
A |
G |
18: 36,420,696 (GRCm39) |
N161S |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,501,260 (GRCm39) |
V330A |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,490,443 (GRCm39) |
V218A |
probably damaging |
Het |
| Spindoc |
C |
T |
19: 7,335,781 (GRCm39) |
V336I |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,726,198 (GRCm39) |
T483A |
probably benign |
Het |
|
| Other mutations in Pigu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02567:Pigu
|
APN |
2 |
155,173,112 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02833:Pigu
|
APN |
2 |
155,187,565 (GRCm39) |
splice site |
probably benign |
|
|
IGL03213:Pigu
|
APN |
2 |
155,177,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Pigu
|
UTSW |
2 |
155,170,598 (GRCm39) |
nonsense |
probably null |
|
|
R2426:Pigu
|
UTSW |
2 |
155,141,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Pigu
|
UTSW |
2 |
155,141,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3879:Pigu
|
UTSW |
2 |
155,141,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5017:Pigu
|
UTSW |
2 |
155,141,128 (GRCm39) |
splice site |
probably null |
|
|
R5215:Pigu
|
UTSW |
2 |
155,177,249 (GRCm39) |
intron |
probably benign |
|
|
R5557:Pigu
|
UTSW |
2 |
155,120,549 (GRCm39) |
nonsense |
probably null |
|
|
R6106:Pigu
|
UTSW |
2 |
155,139,116 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7140:Pigu
|
UTSW |
2 |
155,143,160 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7358:Pigu
|
UTSW |
2 |
155,141,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Pigu
|
UTSW |
2 |
155,141,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Pigu
|
UTSW |
2 |
155,173,064 (GRCm39) |
splice site |
probably null |
|
|
R7844:Pigu
|
UTSW |
2 |
155,134,640 (GRCm39) |
nonsense |
probably null |
|
|
R9181:Pigu
|
UTSW |
2 |
155,141,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Pigu
|
UTSW |
2 |
155,178,610 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9312:Pigu
|
UTSW |
2 |
155,199,315 (GRCm39) |
start codon destroyed |
probably null |
|
|
Z1177:Pigu
|
UTSW |
2 |
155,141,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCAGAGGCTCCCTTAAAGG -3'
(R):5'- GTAAAGTTTTGTGACATGGCTTG -3'
Sequencing Primer
(F):5'- CCCTTAAAGGATGAGGACCCTTTTTG -3'
(R):5'- GGTTTTATAGGAAGGATCTTCATGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation