Incidental Mutation 'R7911:Gart'
| ID |
610537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gart
|
| Ensembl Gene |
ENSMUSG00000022962 |
| Gene Name |
phosphoribosylglycinamide formyltransferase |
| Synonyms |
Prgs, Gaps |
| MMRRC Submission |
045960-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7911 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91418074-91443840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 91435672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 180
(F180L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023684]
[ENSMUST00000120450]
[ENSMUST00000156713]
[ENSMUST00000231380]
[ENSMUST00000231444]
[ENSMUST00000232289]
[ENSMUST00000232367]
|
| AlphaFold |
Q64737 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023684
AA Change: F180L
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: F180L
| 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: ENSMUST00000120450
AA Change: F180L
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114034
Gene: ENSMUSG00000022962
AA Change: F180L
| 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 |
possibly damaging
Transcript: ENSMUST00000156713
AA Change: F180L
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119272
Gene: ENSMUSG00000022962
AA Change: F180L
| 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: ENSMUST00000231380
AA Change: F180L
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232289
AA Change: F180L
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232367
AA Change: F180L
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,693,667 (GRCm39) |
F95L |
probably benign |
Het |
| Abca3 |
C |
G |
17: 24,617,478 (GRCm39) |
D1058E |
probably damaging |
Het |
| Abca7 |
C |
A |
10: 79,840,867 (GRCm39) |
R919S |
probably benign |
Het |
| Abcc2 |
T |
C |
19: 43,792,109 (GRCm39) |
S297P |
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,803,860 (GRCm39) |
L438P |
probably damaging |
Het |
| Acbd6 |
C |
A |
1: 155,562,750 (GRCm39) |
D250E |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 97,015,608 (GRCm39) |
N1626D |
possibly damaging |
Het |
| Arrdc4 |
C |
T |
7: 68,394,924 (GRCm39) |
E112K |
probably benign |
Het |
| B3galnt1 |
T |
A |
3: 69,482,574 (GRCm39) |
Y229F |
probably damaging |
Het |
| Calcrl |
A |
C |
2: 84,181,575 (GRCm39) |
I191S |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,759,866 (GRCm39) |
|
probably null |
Het |
| Card11 |
A |
G |
5: 140,867,755 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
A |
G |
2: 32,668,219 (GRCm39) |
L407P |
probably damaging |
Het |
| Cfap299 |
T |
A |
5: 98,885,567 (GRCm39) |
M158K |
possibly damaging |
Het |
| Chst15 |
T |
C |
7: 131,872,251 (GRCm39) |
Q10R |
probably benign |
Het |
| Ciao3 |
A |
G |
17: 25,999,372 (GRCm39) |
E262G |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,771,952 (GRCm39) |
L424P |
probably damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,299,925 (GRCm39) |
M308T |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,207,733 (GRCm39) |
I403T |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,238,563 (GRCm39) |
|
probably null |
Het |
| Dmrt1 |
T |
A |
19: 25,580,692 (GRCm39) |
L368Q |
probably benign |
Het |
| Dnah7b |
C |
A |
1: 46,178,838 (GRCm39) |
P837Q |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,355,001 (GRCm39) |
L283Q |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,445,122 (GRCm39) |
T1523I |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,479,818 (GRCm39) |
S370P |
probably damaging |
Het |
| Fbxl21 |
G |
A |
13: 56,684,976 (GRCm39) |
G360D |
probably damaging |
Het |
| Fbxo39 |
T |
C |
11: 72,208,358 (GRCm39) |
S237P |
probably damaging |
Het |
| Gng4 |
T |
C |
13: 13,999,857 (GRCm39) |
L42P |
possibly damaging |
Het |
| Heatr9 |
T |
A |
11: 83,403,234 (GRCm39) |
D435V |
probably damaging |
Het |
| Hsh2d |
A |
G |
8: 72,950,648 (GRCm39) |
E45G |
probably damaging |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,410 (GRCm39) |
I70T |
probably damaging |
Het |
| Igkv1-133 |
T |
A |
6: 67,701,924 (GRCm39) |
F9L |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,167,051 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,067,774 (GRCm39) |
V1578A |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,233,517 (GRCm39) |
D266G |
probably damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,629,211 (GRCm39) |
K206N |
probably damaging |
Het |
| Macir |
T |
A |
1: 97,573,615 (GRCm39) |
H150L |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,997,853 (GRCm39) |
G725D |
probably null |
Het |
| Mki67 |
A |
T |
7: 135,306,333 (GRCm39) |
H576Q |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,651,681 (GRCm39) |
I36N |
|
Het |
| Mycbp2 |
T |
G |
14: 103,437,621 (GRCm39) |
E2113D |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,457,677 (GRCm39) |
Y76C |
probably damaging |
Het |
| Noct |
A |
G |
3: 51,155,069 (GRCm39) |
|
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
| Pcdhga6 |
C |
T |
18: 37,842,479 (GRCm39) |
S733L |
not run |
Het |
| Pdlim7 |
T |
C |
13: 55,646,919 (GRCm39) |
E389G |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,173,139 (GRCm39) |
Y480H |
possibly damaging |
Het |
| Prc1 |
T |
A |
7: 79,954,120 (GRCm39) |
D93E |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,613,792 (GRCm39) |
M459T |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,688,924 (GRCm39) |
A906T |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,655,101 (GRCm39) |
E622G |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,501,788 (GRCm39) |
V1104A |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,512,427 (GRCm39) |
R188Q |
probably null |
Het |
| Sh3pxd2b |
G |
A |
11: 32,321,533 (GRCm39) |
V31I |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,052,328 (GRCm39) |
E547G |
possibly damaging |
Het |
| Slk |
C |
T |
19: 47,603,668 (GRCm39) |
T183I |
|
Het |
| Sorcs1 |
C |
A |
19: 50,132,470 (GRCm39) |
D1163Y |
unknown |
Het |
| Tex14 |
G |
A |
11: 87,424,428 (GRCm39) |
|
probably null |
Het |
| Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
| Tlcd4 |
A |
T |
3: 121,022,041 (GRCm39) |
I119K |
probably damaging |
Het |
| Trav5-4 |
T |
C |
14: 53,941,908 (GRCm39) |
F94L |
probably benign |
Het |
| Trpc6 |
G |
C |
9: 8,656,705 (GRCm39) |
G789R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,537,095 (GRCm39) |
C34944* |
probably null |
Het |
| Usp53 |
T |
C |
3: 122,754,916 (GRCm39) |
M180V |
probably benign |
Het |
| Vwa3b |
T |
C |
1: 37,193,107 (GRCm39) |
S8P |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,069,723 (GRCm39) |
M1205K |
probably benign |
Het |
| Zcwpw1 |
A |
T |
5: 137,795,032 (GRCm39) |
E76V |
probably null |
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 |
|
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 |
|
R9753:Gart
|
UTSW |
16 |
91,430,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTCCTTGGAAACTGCTG -3'
(R):5'- CATGGTCATCTTCAGGAATTAGGATG -3'
Sequencing Primer
(F):5'- TTGGAAACTGCTGCGCTC -3'
(R):5'- ACTGAGAAATGTGTCCGTCAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation