Incidental Mutation 'R9046:Gart'
| ID |
688073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gart
|
| Ensembl Gene |
ENSMUSG00000022962 |
| Gene Name |
phosphoribosylglycinamide formyltransferase |
| Synonyms |
Prgs, Gaps |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91418074-91443840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91418561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 973
(S973P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023684]
[ENSMUST00000049244]
[ENSMUST00000133731]
[ENSMUST00000143058]
[ENSMUST00000156713]
[ENSMUST00000169982]
[ENSMUST00000232289]
[ENSMUST00000232640]
|
| AlphaFold |
Q64737 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023684
AA Change: S973P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: S973P
| 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 benign
Transcript: ENSMUST00000049244
|
| SMART Domains |
Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
47 |
105 |
1.04e-11 |
SMART |
|
low complexity region
|
112 |
123 |
N/A |
INTRINSIC |
|
Pfam:DUF1992
|
203 |
342 |
4.7e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133731
|
| SMART Domains |
Protein: ENSMUSP00000118526
Gene: ENSMUSG00000039763
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
47 |
84 |
6.65e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143058
|
| SMART Domains |
Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
71 |
129 |
1.04e-11 |
SMART |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
| 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 benign
Transcript: ENSMUST00000169982
|
| SMART Domains |
Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
71 |
129 |
1.04e-11 |
SMART |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
Pfam:DUF1992
|
227 |
295 |
1.2e-24 |
PFAM |
|
coiled coil region
|
312 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232289
AA Change: S973P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232640
AA Change: S62P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232643
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
99% (66/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,243,525 (GRCm39) |
V1796A |
probably benign |
Het |
| Abca3 |
A |
G |
17: 24,617,477 (GRCm39) |
D1058G |
probably damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,323,858 (GRCm39) |
V431A |
probably benign |
Het |
| Amdhd1 |
C |
T |
10: 93,363,087 (GRCm39) |
D334N |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,506,642 (GRCm39) |
M252K |
probably benign |
Het |
| Anxa3 |
G |
A |
5: 96,976,626 (GRCm39) |
R204Q |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,426,093 (GRCm39) |
T352A |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,850,846 (GRCm39) |
E464G |
possibly damaging |
Het |
| Atp11b |
T |
A |
3: 35,852,740 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
T |
A |
16: 95,829,402 (GRCm39) |
S1100C |
probably damaging |
Het |
| Ccm2l |
T |
A |
2: 152,916,720 (GRCm39) |
I317N |
probably damaging |
Het |
| Ccr9 |
C |
T |
9: 123,608,831 (GRCm39) |
T171I |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,218,303 (GRCm39) |
|
probably benign |
Het |
| Dact1 |
A |
G |
12: 71,365,534 (GRCm39) |
I735V |
probably benign |
Het |
| Dok6 |
C |
A |
18: 89,787,221 (GRCm39) |
V14L |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 62,984,603 (GRCm39) |
Y436F |
possibly damaging |
Het |
| Fndc9 |
G |
T |
11: 46,128,889 (GRCm39) |
W136L |
probably damaging |
Het |
| Gal3st1 |
G |
A |
11: 3,948,278 (GRCm39) |
V162I |
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,476,035 (GRCm39) |
|
probably null |
Het |
| Hsp90ab1 |
G |
A |
17: 45,879,969 (GRCm39) |
P516S |
probably damaging |
Het |
| Htr1a |
G |
C |
13: 105,581,816 (GRCm39) |
G352A |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,568,945 (GRCm39) |
T545A |
probably damaging |
Het |
| Isg20 |
A |
T |
7: 78,569,823 (GRCm39) |
R265* |
probably null |
Het |
| Kcmf1 |
C |
T |
6: 72,825,455 (GRCm39) |
A213T |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,572,540 (GRCm39) |
V1007A |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,515,337 (GRCm39) |
E81G |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,765,803 (GRCm39) |
V600F |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,285,479 (GRCm39) |
V471A |
probably benign |
Het |
| Lap3 |
A |
G |
5: 45,652,562 (GRCm39) |
T53A |
probably damaging |
Het |
| Lmntd1 |
A |
T |
6: 145,365,565 (GRCm39) |
I188N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,302,543 (GRCm39) |
I1868V |
possibly damaging |
Het |
| Mef2d |
A |
T |
3: 88,074,825 (GRCm39) |
Y337F |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,474,742 (GRCm39) |
T7A |
possibly damaging |
Het |
| Myo3a |
G |
T |
2: 22,448,367 (GRCm39) |
L985F |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,923,112 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,376,145 (GRCm39) |
G77S |
probably benign |
Het |
| Nostrin |
G |
T |
2: 68,975,123 (GRCm39) |
V13L |
probably benign |
Het |
| Nup155 |
TGGG |
TGG |
15: 8,157,919 (GRCm39) |
|
probably null |
Het |
| Or14j6 |
A |
G |
17: 38,215,145 (GRCm39) |
K236R |
probably damaging |
Het |
| Or3a10 |
T |
C |
11: 73,935,284 (GRCm39) |
D272G |
probably damaging |
Het |
| Or4a75 |
C |
T |
2: 89,448,496 (GRCm39) |
|
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,115 (GRCm39) |
N193D |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,864,927 (GRCm39) |
K1025T |
probably damaging |
Het |
| Parvb |
T |
C |
15: 84,174,639 (GRCm39) |
I144T |
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 15,175,160 (GRCm39) |
V195A |
probably damaging |
Het |
| Prpf18 |
A |
T |
2: 4,640,464 (GRCm39) |
M257K |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,870,364 (GRCm39) |
|
probably null |
Het |
| Ptprt |
G |
A |
2: 161,372,361 (GRCm39) |
T1437M |
possibly damaging |
Het |
| Ptx3 |
T |
C |
3: 66,132,153 (GRCm39) |
F225L |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,947,435 (GRCm39) |
K50E |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,661,940 (GRCm39) |
N427D |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,530,563 (GRCm39) |
A114T |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,436,725 (GRCm39) |
V35A |
probably damaging |
Het |
| Slc22a2 |
G |
A |
17: 12,834,234 (GRCm39) |
A501T |
probably null |
Het |
| Slu7 |
G |
A |
11: 43,335,629 (GRCm39) |
C455Y |
probably damaging |
Het |
| Src |
C |
A |
2: 157,307,795 (GRCm39) |
H235N |
probably damaging |
Het |
| Svopl |
T |
A |
6: 37,998,531 (GRCm39) |
M248L |
probably benign |
Het |
| Tbx6 |
G |
A |
7: 126,381,120 (GRCm39) |
|
probably null |
Het |
| Tprg1l |
A |
T |
4: 154,242,913 (GRCm39) |
I239N |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,189 (GRCm39) |
F350L |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,585 (GRCm39) |
S145P |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,850 (GRCm39) |
F76I |
probably benign |
Het |
| Xpot |
A |
T |
10: 121,432,149 (GRCm39) |
C916* |
probably null |
Het |
| Zfp236 |
C |
T |
18: 82,637,042 (GRCm39) |
E1415K |
possibly damaging |
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 |
|
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 |
|
R9753:Gart
|
UTSW |
16 |
91,430,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGGTATTTCAGTTTGGCC -3'
(R):5'- ACACTTTGTCGCTGTGAGTATG -3'
Sequencing Primer
(F):5'- CATGGTCATGATGAAAAGGCACCC -3'
(R):5'- GTGAGTATGTCTGTCCCTACCAAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation