Incidental Mutation 'R0046:Pfas'
| ID |
43725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfas
|
| Ensembl Gene |
ENSMUSG00000020899 |
| Gene Name |
phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) |
| Synonyms |
4432409B16Rik, Sofa |
| MMRRC Submission |
038340-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68876527-68899286 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 68881293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 1025
(R1025S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021282]
|
| AlphaFold |
Q5SUR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021282
AA Change: R1025S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: R1025S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIRS_C
|
444 |
603 |
1.7e-21 |
PFAM |
|
low complexity region
|
615 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
786 |
798 |
N/A |
INTRINSIC |
|
Pfam:AIRS_C
|
853 |
988 |
3e-11 |
PFAM |
|
GATase_5
|
1061 |
1332 |
8.38e-133 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149703
|
| SMART Domains |
Protein: ENSMUSP00000133984
Gene: ENSMUSG00000020899
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIRS_C
|
3 |
110 |
4e-12 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152964
AA Change: R129S
|
| SMART Domains |
Protein: ENSMUSP00000121808
Gene: ENSMUSG00000020899
AA Change: R129S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIRS_C
|
2 |
94 |
1.6e-12 |
PFAM |
|
GATase_5
|
166 |
468 |
6.88e-120 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174986
|
| Meta Mutation Damage Score |
0.0997 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
100% (83/83) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
A |
T |
4: 56,743,877 (GRCm39) |
K135* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,911,579 (GRCm39) |
S871P |
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,367,403 (GRCm39) |
I558F |
probably damaging |
Het |
| Adsl |
T |
G |
15: 80,846,989 (GRCm39) |
|
probably null |
Het |
| Aldob |
T |
C |
4: 49,543,842 (GRCm39) |
I47V |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,343,247 (GRCm39) |
E46G |
probably damaging |
Het |
| Ankrd33b |
G |
A |
15: 31,367,483 (GRCm39) |
P19L |
probably damaging |
Het |
| Apoa5 |
T |
C |
9: 46,181,296 (GRCm39) |
L124S |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,067,664 (GRCm39) |
L533Q |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,550,011 (GRCm39) |
T9A |
probably benign |
Het |
| Auh |
G |
A |
13: 53,083,421 (GRCm39) |
|
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,567 (GRCm39) |
Y267C |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,894,279 (GRCm39) |
T117A |
possibly damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,898,301 (GRCm39) |
F15L |
possibly damaging |
Het |
| Chtf18 |
C |
T |
17: 25,942,434 (GRCm39) |
R468Q |
probably benign |
Het |
| Cntnap5c |
T |
G |
17: 58,666,295 (GRCm39) |
D1108E |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,272,359 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,626,047 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,251,280 (GRCm39) |
A317T |
possibly damaging |
Het |
| Cpt1c |
A |
T |
7: 44,609,256 (GRCm39) |
|
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,761,559 (GRCm39) |
|
probably null |
Het |
| Crebrf |
T |
A |
17: 26,982,308 (GRCm39) |
L565M |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,666,236 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx9 |
C |
T |
1: 153,348,453 (GRCm39) |
V291M |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,011,149 (GRCm39) |
V1102E |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,496,033 (GRCm39) |
|
probably null |
Het |
| Dock4 |
G |
A |
12: 40,787,359 (GRCm39) |
|
probably benign |
Het |
| Dpp3 |
G |
T |
19: 4,964,671 (GRCm39) |
N545K |
probably damaging |
Het |
| Elmo2 |
T |
A |
2: 165,140,646 (GRCm39) |
N275I |
probably damaging |
Het |
| Farp1 |
A |
G |
14: 121,492,925 (GRCm39) |
K509R |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,877,275 (GRCm39) |
Y3446C |
possibly damaging |
Het |
| Fgd2 |
T |
A |
17: 29,593,964 (GRCm39) |
|
probably benign |
Het |
| Flg |
T |
A |
3: 93,185,028 (GRCm39) |
|
probably benign |
Het |
| Gas2l2 |
A |
T |
11: 83,312,736 (GRCm39) |
W859R |
probably damaging |
Het |
| Gatm |
T |
C |
2: 122,431,225 (GRCm39) |
D254G |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,998 (GRCm39) |
I27F |
probably damaging |
Het |
| Gsdmc2 |
C |
A |
15: 63,699,604 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,353,605 (GRCm39) |
V591I |
probably benign |
Het |
| Kcnab3 |
G |
A |
11: 69,221,053 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
A |
G |
1: 32,658,283 (GRCm39) |
D281G |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,283 (GRCm39) |
M393L |
probably benign |
Het |
| Limk1 |
T |
C |
5: 134,701,615 (GRCm39) |
Y96C |
probably damaging |
Het |
| Lrp2bp |
T |
A |
8: 46,466,192 (GRCm39) |
Y100* |
probably null |
Het |
| Mamstr |
T |
G |
7: 45,291,194 (GRCm39) |
|
probably benign |
Het |
| Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,929,591 (GRCm39) |
P1672S |
possibly damaging |
Het |
| Mboat7 |
T |
C |
7: 3,686,817 (GRCm39) |
Y341C |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,401,417 (GRCm39) |
N881I |
probably damaging |
Het |
| Nox3 |
T |
C |
17: 3,733,236 (GRCm39) |
Y225C |
probably benign |
Het |
| Nrp1 |
C |
T |
8: 129,227,089 (GRCm39) |
|
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,596 (GRCm39) |
*312K |
probably null |
Het |
| Or4c109 |
C |
T |
2: 88,817,693 (GRCm39) |
M284I |
probably benign |
Het |
| Or4c35 |
C |
T |
2: 89,808,851 (GRCm39) |
T243I |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or8k33 |
A |
G |
2: 86,383,976 (GRCm39) |
F164S |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,310 (GRCm39) |
M563L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,590,493 (GRCm39) |
T931M |
unknown |
Het |
| Peli2 |
C |
T |
14: 48,358,659 (GRCm39) |
P16S |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,953,307 (GRCm39) |
I1196N |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,262,617 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,837 (GRCm39) |
T279A |
possibly damaging |
Het |
| Psma1 |
A |
T |
7: 113,866,440 (GRCm39) |
|
probably benign |
Het |
| Rab11fip1 |
A |
G |
8: 27,643,149 (GRCm39) |
L550P |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
| Rmnd5a |
T |
C |
6: 71,376,215 (GRCm39) |
H195R |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,708,830 (GRCm39) |
L750P |
probably damaging |
Het |
| Rtcb |
T |
C |
10: 85,793,520 (GRCm39) |
N18D |
probably benign |
Het |
| Seh1l |
T |
C |
18: 67,925,086 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
G |
3: 72,839,427 (GRCm39) |
N813T |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,795,405 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,281,285 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Taok3 |
C |
T |
5: 117,410,294 (GRCm39) |
Q829* |
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,679,095 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,781,886 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,091,940 (GRCm39) |
E1756G |
probably damaging |
Het |
| Usp35 |
A |
T |
7: 96,962,804 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
A |
G |
17: 22,766,990 (GRCm39) |
F836L |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,451,146 (GRCm39) |
D344G |
possibly damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,714,589 (GRCm39) |
C1067R |
probably damaging |
Het |
|
| Other mutations in Pfas |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Pfas
|
APN |
11 |
68,894,640 (GRCm39) |
nonsense |
probably null |
|
|
IGL01287:Pfas
|
APN |
11 |
68,892,086 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01712:Pfas
|
APN |
11 |
68,881,886 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02019:Pfas
|
APN |
11 |
68,884,289 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02053:Pfas
|
APN |
11 |
68,883,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Pfas
|
APN |
11 |
68,890,971 (GRCm39) |
splice site |
probably benign |
|
|
IGL02801:Pfas
|
APN |
11 |
68,879,103 (GRCm39) |
unclassified |
probably benign |
|
|
Surf
|
UTSW |
11 |
68,878,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Pfas
|
UTSW |
11 |
68,880,862 (GRCm39) |
missense |
|
|
|
R0037:Pfas
|
UTSW |
11 |
68,890,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Pfas
|
UTSW |
11 |
68,881,293 (GRCm39) |
missense |
probably benign |
|
|
R0408:Pfas
|
UTSW |
11 |
68,891,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0532:Pfas
|
UTSW |
11 |
68,893,455 (GRCm39) |
splice site |
probably benign |
|
|
R0707:Pfas
|
UTSW |
11 |
68,888,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0783:Pfas
|
UTSW |
11 |
68,891,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0946:Pfas
|
UTSW |
11 |
68,881,573 (GRCm39) |
splice site |
probably null |
|
|
R0946:Pfas
|
UTSW |
11 |
68,884,121 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1470:Pfas
|
UTSW |
11 |
68,882,185 (GRCm39) |
missense |
probably benign |
|
|
R1470:Pfas
|
UTSW |
11 |
68,882,185 (GRCm39) |
missense |
probably benign |
|
|
R1507:Pfas
|
UTSW |
11 |
68,880,860 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1699:Pfas
|
UTSW |
11 |
68,888,872 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1870:Pfas
|
UTSW |
11 |
68,882,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Pfas
|
UTSW |
11 |
68,882,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Pfas
|
UTSW |
11 |
68,885,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Pfas
|
UTSW |
11 |
68,884,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2180:Pfas
|
UTSW |
11 |
68,883,013 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3808:Pfas
|
UTSW |
11 |
68,880,779 (GRCm39) |
intron |
probably benign |
|
|
R3809:Pfas
|
UTSW |
11 |
68,880,779 (GRCm39) |
intron |
probably benign |
|
|
R3872:Pfas
|
UTSW |
11 |
68,891,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3906:Pfas
|
UTSW |
11 |
68,879,112 (GRCm39) |
unclassified |
probably benign |
|
|
R4092:Pfas
|
UTSW |
11 |
68,884,775 (GRCm39) |
missense |
probably benign |
|
|
R4437:Pfas
|
UTSW |
11 |
68,879,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4599:Pfas
|
UTSW |
11 |
68,881,895 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4763:Pfas
|
UTSW |
11 |
68,881,020 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5116:Pfas
|
UTSW |
11 |
68,881,816 (GRCm39) |
intron |
probably benign |
|
|
R5310:Pfas
|
UTSW |
11 |
68,878,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Pfas
|
UTSW |
11 |
68,879,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5351:Pfas
|
UTSW |
11 |
68,882,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5427:Pfas
|
UTSW |
11 |
68,891,979 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5533:Pfas
|
UTSW |
11 |
68,882,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5602:Pfas
|
UTSW |
11 |
68,881,871 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5637:Pfas
|
UTSW |
11 |
68,884,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Pfas
|
UTSW |
11 |
68,881,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Pfas
|
UTSW |
11 |
68,882,771 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6295:Pfas
|
UTSW |
11 |
68,888,825 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6305:Pfas
|
UTSW |
11 |
68,892,023 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6387:Pfas
|
UTSW |
11 |
68,891,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6425:Pfas
|
UTSW |
11 |
68,881,897 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6523:Pfas
|
UTSW |
11 |
68,881,283 (GRCm39) |
missense |
probably benign |
|
|
R6914:Pfas
|
UTSW |
11 |
68,883,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6915:Pfas
|
UTSW |
11 |
68,883,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6945:Pfas
|
UTSW |
11 |
68,891,356 (GRCm39) |
missense |
probably benign |
|
|
R6957:Pfas
|
UTSW |
11 |
68,884,709 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7025:Pfas
|
UTSW |
11 |
68,881,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7257:Pfas
|
UTSW |
11 |
68,883,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7386:Pfas
|
UTSW |
11 |
68,894,600 (GRCm39) |
missense |
probably benign |
|
|
R7424:Pfas
|
UTSW |
11 |
68,890,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Pfas
|
UTSW |
11 |
68,879,481 (GRCm39) |
missense |
|
|
|
R7593:Pfas
|
UTSW |
11 |
68,881,921 (GRCm39) |
missense |
|
|
|
R7731:Pfas
|
UTSW |
11 |
68,890,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Pfas
|
UTSW |
11 |
68,883,119 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8248:Pfas
|
UTSW |
11 |
68,891,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Pfas
|
UTSW |
11 |
68,881,908 (GRCm39) |
missense |
|
|
|
R8853:Pfas
|
UTSW |
11 |
68,883,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Pfas
|
UTSW |
11 |
68,879,421 (GRCm39) |
missense |
|
|
|
R9050:Pfas
|
UTSW |
11 |
68,882,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9283:Pfas
|
UTSW |
11 |
68,884,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Pfas
|
UTSW |
11 |
68,883,542 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Pfas
|
UTSW |
11 |
68,893,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pfas
|
UTSW |
11 |
68,880,896 (GRCm39) |
missense |
|
|
|
Z1177:Pfas
|
UTSW |
11 |
68,893,319 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Pfas
|
UTSW |
11 |
68,881,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCATCAGCCATTTCTCGGTCTC -3'
(R):5'- ACCGTGAGCCTGTCAGCAAATACC -3'
Sequencing Primer
(F):5'- GTCTCTGAGCAGAATGCTACC -3'
(R):5'- GCAAATACCACTCACGGGG -3'
|
| Posted On |
2013-05-29 |
Incidental Mutation