Incidental Mutation 'R9409:Pgap4'
| ID |
711702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgap4
|
| Ensembl Gene |
ENSMUSG00000039611 |
| Gene Name |
post-GPI attachment to proteins GalNAc transferase 4 |
| Synonyms |
2810432L12Rik, Tmem246, 9330170P15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
49584506-49597876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49586043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 375
(E375V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042750]
[ENSMUST00000150664]
[ENSMUST00000151542]
|
| AlphaFold |
Q91YV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042750
AA Change: E375V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040885
Gene: ENSMUSG00000039611
AA Change: E375V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
262 |
280 |
N/A |
INTRINSIC |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150664
|
| SMART Domains |
Protein: ENSMUSP00000115100
Gene: ENSMUSG00000039611
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151542
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,211,888 (GRCm39) |
I538F |
possibly damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,374,135 (GRCm39) |
H385R |
probably damaging |
Het |
| Cep43 |
T |
C |
17: 8,411,088 (GRCm39) |
V367A |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,478,704 (GRCm39) |
D222G |
probably benign |
Het |
| Cpb2 |
A |
T |
14: 75,505,522 (GRCm39) |
I173F |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
T |
C |
14: 67,472,665 (GRCm39) |
S28P |
probably damaging |
Het |
| Eomes |
A |
T |
9: 118,314,069 (GRCm39) |
T705S |
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,977,246 (GRCm39) |
W98R |
possibly damaging |
Het |
| Gm12258 |
T |
C |
11: 58,745,119 (GRCm39) |
F17L |
|
Het |
| Grin2c |
C |
T |
11: 115,144,106 (GRCm39) |
R697H |
probably benign |
Het |
| Ighmbp2 |
C |
A |
19: 3,318,832 (GRCm39) |
A415S |
possibly damaging |
Het |
| Il6st |
C |
G |
13: 112,640,872 (GRCm39) |
Q883E |
probably benign |
Het |
| Med17 |
T |
C |
9: 15,176,695 (GRCm39) |
M511V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or8b39 |
G |
A |
9: 37,996,584 (GRCm39) |
G151R |
probably damaging |
Het |
| Pacrg |
A |
T |
17: 10,996,065 (GRCm39) |
I67N |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,749,585 (GRCm39) |
S964P |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,160,190 (GRCm39) |
T436A |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,473,192 (GRCm39) |
L650Q |
probably damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,106,217 (GRCm39) |
T323S |
probably benign |
Het |
| Rhot2 |
T |
C |
17: 26,060,085 (GRCm39) |
T299A |
probably benign |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,695,973 (GRCm39) |
V2965F |
probably damaging |
Het |
| Serpina1b |
A |
T |
12: 103,694,607 (GRCm39) |
M379K |
probably benign |
Het |
| Serpinb9 |
A |
G |
13: 33,192,797 (GRCm39) |
Q118R |
probably benign |
Het |
| Slc16a14 |
G |
A |
1: 84,907,116 (GRCm39) |
Q53* |
probably null |
Het |
| Tas2r130 |
T |
A |
6: 131,607,660 (GRCm39) |
D45V |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,945 (GRCm39) |
N361D |
probably damaging |
Het |
| Tmtc2 |
G |
T |
10: 105,159,419 (GRCm39) |
L560M |
probably damaging |
Het |
| Trav13-5 |
G |
T |
14: 54,033,277 (GRCm39) |
R62L |
possibly damaging |
Het |
|
| Other mutations in Pgap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Pgap4
|
APN |
4 |
49,586,860 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02210:Pgap4
|
APN |
4 |
49,586,686 (GRCm39) |
missense |
probably benign |
|
|
IGL03239:Pgap4
|
APN |
4 |
49,586,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0344:Pgap4
|
UTSW |
4 |
49,586,566 (GRCm39) |
missense |
probably benign |
|
|
R1134:Pgap4
|
UTSW |
4 |
49,586,832 (GRCm39) |
missense |
probably benign |
|
|
R1392:Pgap4
|
UTSW |
4 |
49,586,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1392:Pgap4
|
UTSW |
4 |
49,586,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2247:Pgap4
|
UTSW |
4 |
49,586,209 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2288:Pgap4
|
UTSW |
4 |
49,586,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Pgap4
|
UTSW |
4 |
49,586,254 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5530:Pgap4
|
UTSW |
4 |
49,586,226 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5939:Pgap4
|
UTSW |
4 |
49,586,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5955:Pgap4
|
UTSW |
4 |
49,586,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Pgap4
|
UTSW |
4 |
49,586,325 (GRCm39) |
missense |
probably benign |
|
|
R7837:Pgap4
|
UTSW |
4 |
49,586,262 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8792:Pgap4
|
UTSW |
4 |
49,587,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9120:Pgap4
|
UTSW |
4 |
49,587,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9781:Pgap4
|
UTSW |
4 |
49,586,890 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Pgap4
|
UTSW |
4 |
49,587,135 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Pgap4
|
UTSW |
4 |
49,586,872 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGCTTTTCACTCGATGC -3'
(R):5'- CTGAGTCCCTCCTTGTACAGTG -3'
Sequencing Primer
(F):5'- TGACCAATGAAATATCTGCAAGC -3'
(R):5'- GTACAGTGTGGTTCCTGCCTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation