Incidental Mutation 'R9753:Gart'
| ID |
732652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gart
|
| Ensembl Gene |
ENSMUSG00000022962 |
| Gene Name |
phosphoribosylglycinamide formyltransferase |
| Synonyms |
Prgs, Gaps |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
91418074-91443840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91430949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 371
(G371D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023684]
[ENSMUST00000120450]
[ENSMUST00000156713]
[ENSMUST00000231380]
[ENSMUST00000232289]
[ENSMUST00000232367]
|
| AlphaFold |
Q64737 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023684
AA Change: G371D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: G371D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GARS_N
|
3 |
104 |
6.4e-37 |
PFAM |
|
GARS_A
|
105 |
298 |
4.42e-132 |
SMART |
|
GARS_C
|
333 |
426 |
1.33e-44 |
SMART |
|
Pfam:AIRS
|
473 |
593 |
1.2e-17 |
PFAM |
|
Pfam:AIRS_C
|
606 |
777 |
9e-40 |
PFAM |
|
Pfam:Formyl_trans_N
|
808 |
988 |
3.4e-68 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120450
AA Change: G371D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114034
Gene: ENSMUSG00000022962
AA Change: G371D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GARS_N
|
3 |
104 |
1.8e-40 |
PFAM |
|
GARS_A
|
105 |
298 |
4.42e-132 |
SMART |
|
GARS_C
|
333 |
426 |
1.33e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156713
|
| SMART Domains |
Protein: ENSMUSP00000119272
Gene: ENSMUSG00000022962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GARS_N
|
3 |
104 |
1.4e-40 |
PFAM |
|
GARS_A
|
105 |
298 |
4.42e-132 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231380
AA Change: G371D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232289
AA Change: G371D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232367
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| 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 is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
G |
A |
10: 41,259,496 (GRCm39) |
V843I |
|
Het |
| Bbs12 |
T |
C |
3: 37,373,680 (GRCm39) |
C43R |
possibly damaging |
Het |
| Brwd1 |
T |
C |
16: 95,825,028 (GRCm39) |
E1145G |
probably damaging |
Het |
| C2cd4c |
A |
C |
10: 79,448,067 (GRCm39) |
I360S |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,417,539 (GRCm39) |
N599S |
probably damaging |
Het |
| Cd79b |
A |
G |
11: 106,203,457 (GRCm39) |
|
probably null |
Het |
| Ces2c |
A |
G |
8: 105,580,249 (GRCm39) |
M489V |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,106,068 (GRCm39) |
N84D |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,191,320 (GRCm39) |
D1047G |
possibly damaging |
Het |
| Cyp2c69 |
C |
T |
19: 39,865,991 (GRCm39) |
V201M |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,223,673 (GRCm39) |
S1154P |
possibly damaging |
Het |
| Elk4 |
T |
G |
1: 131,945,881 (GRCm39) |
V253G |
probably benign |
Het |
| Erbb4 |
T |
A |
1: 68,238,062 (GRCm39) |
H809L |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,067 (GRCm39) |
D231E |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,574 (GRCm39) |
K295E |
probably benign |
Het |
| Fbrsl1 |
A |
G |
5: 110,526,835 (GRCm39) |
F2L |
unknown |
Het |
| Fnip2 |
C |
T |
3: 79,415,411 (GRCm39) |
R209H |
probably benign |
Het |
| Gata6 |
T |
A |
18: 11,064,706 (GRCm39) |
V506D |
possibly damaging |
Het |
| Gba2 |
T |
C |
4: 43,568,716 (GRCm39) |
Y620C |
probably damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,364 (GRCm39) |
N160S |
probably benign |
Het |
| Gstm3 |
A |
G |
3: 107,875,493 (GRCm39) |
W46R |
probably damaging |
Het |
| Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
| Hydin |
T |
C |
8: 111,217,398 (GRCm39) |
F1429L |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Itgb1bp1 |
A |
G |
12: 21,326,890 (GRCm39) |
S28P |
unknown |
Het |
| Krt10 |
A |
G |
11: 99,279,792 (GRCm39) |
F123L |
unknown |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lingo4 |
C |
T |
3: 94,309,493 (GRCm39) |
R144* |
probably null |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Nrsn1 |
C |
A |
13: 25,437,563 (GRCm39) |
V122L |
probably benign |
Het |
| Or10h5 |
C |
A |
17: 33,434,688 (GRCm39) |
G210V |
possibly damaging |
Het |
| Or2r2 |
T |
C |
6: 42,463,507 (GRCm39) |
M207V |
probably benign |
Het |
| Or4d6 |
T |
A |
19: 12,086,056 (GRCm39) |
M59L |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,023,073 (GRCm39) |
T353A |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,635,150 (GRCm39) |
Y342H |
probably damaging |
Het |
| Pou2af1 |
A |
T |
9: 51,149,636 (GRCm39) |
N243Y |
possibly damaging |
Het |
| Prkcz |
T |
C |
4: 155,377,659 (GRCm39) |
D197G |
probably benign |
Het |
| Sec14l4 |
G |
A |
11: 3,989,982 (GRCm39) |
E94K |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,807,139 (GRCm39) |
E757G |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,463,763 (GRCm39) |
S1154T |
possibly damaging |
Het |
| Speer1k |
A |
T |
5: 10,999,020 (GRCm39) |
T53S |
|
Het |
| Ssb |
T |
C |
2: 69,697,865 (GRCm39) |
Y175H |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,502,261 (GRCm39) |
I50T |
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,182,842 (GRCm39) |
R396* |
probably null |
Het |
| Vezt |
A |
G |
10: 93,806,183 (GRCm39) |
S743P |
probably benign |
Het |
| Vmn1r77 |
A |
C |
7: 11,775,659 (GRCm39) |
N145T |
probably damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,285,665 (GRCm39) |
T162P |
probably benign |
Het |
|
| Other mutations in Gart |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00597:Gart
|
APN |
16 |
91,435,677 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL00837:Gart
|
APN |
16 |
91,435,608 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01010:Gart
|
APN |
16 |
91,439,980 (GRCm39) |
nonsense |
probably null |
|
|
IGL01064:Gart
|
APN |
16 |
91,419,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01451:Gart
|
APN |
16 |
91,422,400 (GRCm39) |
missense |
probably benign |
|
|
IGL02084:Gart
|
APN |
16 |
91,418,488 (GRCm39) |
missense |
probably benign |
|
|
IGL02301:Gart
|
APN |
16 |
91,418,725 (GRCm39) |
splice site |
probably benign |
|
|
IGL02814:Gart
|
APN |
16 |
91,420,345 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
sylvester
|
UTSW |
16 |
91,427,490 (GRCm39) |
splice site |
probably benign |
|
|
PIT4453001:Gart
|
UTSW |
16 |
91,433,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Gart
|
UTSW |
16 |
91,422,282 (GRCm39) |
missense |
probably benign |
|
|
R0197:Gart
|
UTSW |
16 |
91,420,291 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0321:Gart
|
UTSW |
16 |
91,419,925 (GRCm39) |
unclassified |
probably benign |
|
|
R0322:Gart
|
UTSW |
16 |
91,419,925 (GRCm39) |
unclassified |
probably benign |
|
|
R0398:Gart
|
UTSW |
16 |
91,436,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Gart
|
UTSW |
16 |
91,438,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Gart
|
UTSW |
16 |
91,419,925 (GRCm39) |
unclassified |
probably benign |
|
|
R0620:Gart
|
UTSW |
16 |
91,427,490 (GRCm39) |
splice site |
probably benign |
|
|
R0628:Gart
|
UTSW |
16 |
91,430,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0883:Gart
|
UTSW |
16 |
91,420,291 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1346:Gart
|
UTSW |
16 |
91,425,070 (GRCm39) |
splice site |
probably null |
|
|
R1490:Gart
|
UTSW |
16 |
91,421,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Gart
|
UTSW |
16 |
91,422,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Gart
|
UTSW |
16 |
91,439,837 (GRCm39) |
splice site |
probably benign |
|
|
R1917:Gart
|
UTSW |
16 |
91,425,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Gart
|
UTSW |
16 |
91,426,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Gart
|
UTSW |
16 |
91,439,928 (GRCm39) |
splice site |
probably null |
|
|
R4305:Gart
|
UTSW |
16 |
91,430,880 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4377:Gart
|
UTSW |
16 |
91,430,982 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4599:Gart
|
UTSW |
16 |
91,419,833 (GRCm39) |
nonsense |
probably null |
|
|
R4619:Gart
|
UTSW |
16 |
91,422,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Gart
|
UTSW |
16 |
91,422,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Gart
|
UTSW |
16 |
91,430,933 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5902:Gart
|
UTSW |
16 |
91,425,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5975:Gart
|
UTSW |
16 |
91,421,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Gart
|
UTSW |
16 |
91,432,995 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7041:Gart
|
UTSW |
16 |
91,440,031 (GRCm39) |
start gained |
probably benign |
|
|
R7150:Gart
|
UTSW |
16 |
91,425,351 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7320:Gart
|
UTSW |
16 |
91,418,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7709:Gart
|
UTSW |
16 |
91,419,853 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7748:Gart
|
UTSW |
16 |
91,427,540 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7911:Gart
|
UTSW |
16 |
91,435,672 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8066:Gart
|
UTSW |
16 |
91,436,335 (GRCm39) |
missense |
probably benign |
|
|
R8209:Gart
|
UTSW |
16 |
91,425,041 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8824:Gart
|
UTSW |
16 |
91,427,591 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8840:Gart
|
UTSW |
16 |
91,433,010 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9046:Gart
|
UTSW |
16 |
91,418,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Gart
|
UTSW |
16 |
91,430,904 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9514:Gart
|
UTSW |
16 |
91,427,596 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGTCTCAGAGGGCATCTTTAC -3'
(R):5'- GTTGTAGAGCATGTCTTCAATCCTG -3'
Sequencing Primer
(F):5'- CTCAGAGGGCATCTTTACCTGGG -3'
(R):5'- ATGTCTTCAATCCTGGGACCTGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation