Incidental Mutation 'R3879:Pigu'
ID |
308666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pigu
|
Ensembl Gene |
ENSMUSG00000038383 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class U |
Synonyms |
5430426F17Rik, Cdc91l1 |
MMRRC Submission |
040793-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3879 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155120163-155199344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 155141063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 276
(F276I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126236
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077626]
[ENSMUST00000165234]
|
AlphaFold |
Q8K358 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077626
AA Change: F277I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000076816 Gene: ENSMUSG00000038383 AA Change: F277I
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 |
probably damaging
Transcript: ENSMUST00000165234
AA Change: F276I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126236 Gene: ENSMUSG00000038383 AA Change: F276I
Domain | Start | End | E-Value | Type |
Pfam:PIG-U
|
10 |
393 |
1.7e-116 |
PFAM |
|
Meta Mutation Damage Score |
0.5836 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
95% (38/40) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
T |
C |
3: 89,970,561 (GRCm39) |
|
probably benign |
Het |
Aass |
G |
A |
6: 23,122,520 (GRCm39) |
H68Y |
probably damaging |
Het |
Abcc8 |
T |
A |
7: 45,754,051 (GRCm39) |
K1588N |
possibly damaging |
Het |
Calcoco1 |
T |
C |
15: 102,615,823 (GRCm39) |
D601G |
probably damaging |
Het |
Ccdc175 |
C |
A |
12: 72,182,792 (GRCm39) |
R409I |
probably damaging |
Het |
Ccnl1 |
A |
G |
3: 65,856,179 (GRCm39) |
V242A |
possibly damaging |
Het |
Clasp2 |
T |
C |
9: 113,719,029 (GRCm39) |
F705L |
probably damaging |
Het |
Cyp46a1 |
A |
G |
12: 108,324,389 (GRCm39) |
T389A |
probably benign |
Het |
Eps8 |
A |
G |
6: 137,504,360 (GRCm39) |
|
probably benign |
Het |
Gm9894 |
T |
C |
13: 67,912,916 (GRCm39) |
|
noncoding transcript |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Nup153 |
A |
T |
13: 46,837,436 (GRCm39) |
V1262E |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,092,780 (GRCm39) |
T1245A |
probably damaging |
Het |
Or10ad1b |
C |
T |
15: 98,125,085 (GRCm39) |
C147Y |
probably damaging |
Het |
Or5b121 |
A |
G |
19: 13,507,613 (GRCm39) |
Y236C |
probably damaging |
Het |
Pcif1 |
G |
A |
2: 164,727,878 (GRCm39) |
G189D |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,375,594 (GRCm39) |
S1514P |
probably damaging |
Het |
Pramex1 |
T |
C |
X: 134,514,194 (GRCm39) |
H365R |
probably benign |
Het |
Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
Rasgrp2 |
A |
T |
19: 6,463,920 (GRCm39) |
Q539H |
probably benign |
Het |
Rgs22 |
T |
G |
15: 36,107,051 (GRCm39) |
I112L |
possibly damaging |
Het |
Slc26a9 |
A |
T |
1: 131,696,969 (GRCm39) |
T786S |
probably benign |
Het |
Sned1 |
A |
G |
1: 93,192,752 (GRCm39) |
|
probably benign |
Het |
St7l |
G |
A |
3: 104,833,763 (GRCm39) |
V475I |
probably damaging |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,634,765 (GRCm39) |
V713A |
possibly damaging |
Het |
Trim16 |
G |
A |
11: 62,731,433 (GRCm39) |
G348S |
probably damaging |
Het |
Tshz3 |
C |
T |
7: 36,470,962 (GRCm39) |
Q984* |
probably null |
Het |
Ttn |
A |
G |
2: 76,566,406 (GRCm39) |
|
probably null |
Het |
Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,572 (GRCm39) |
Y497* |
probably null |
Het |
Zfp462 |
G |
A |
4: 55,060,095 (GRCm39) |
C1207Y |
probably damaging |
Het |
Zfp607b |
A |
G |
7: 27,403,476 (GRCm39) |
E644G |
possibly damaging |
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 |
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 |
R6718:Pigu
|
UTSW |
2 |
155,143,206 (GRCm39) |
missense |
possibly damaging |
0.49 |
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'- CTCAACTGCTGACCTGATCAATG -3'
(R):5'- ACTTTTAAAGGGACGGCGCC -3'
Sequencing Primer
(F):5'- TGCTGACCTGATCAATGAAGCC -3'
(R):5'- CATCCTTGGTCACCTAGTACTGG -3'
|
Posted On |
2015-04-17 |