Incidental Mutation 'R8853:Pfas'
| ID |
675132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfas
|
| Ensembl Gene |
ENSMUSG00000020899 |
| Gene Name |
phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) |
| Synonyms |
4432409B16Rik, Sofa |
| MMRRC Submission |
068675-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8853 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68985697-69008460 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68992918 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 638
(K638E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021282]
|
| AlphaFold |
Q5SUR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021282
AA Change: K638E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: K638E
| 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 |
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 |
probably benign
Transcript: ENSMUST00000152964
|
| SMART Domains |
Protein: ENSMUSP00000121808
Gene: ENSMUSG00000020899
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIRS_C
|
2 |
94 |
1.6e-12 |
PFAM |
|
GATase_5
|
166 |
468 |
6.88e-120 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,906,060 |
Y290F |
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,073,880 |
L136M |
possibly damaging |
Het |
| Arpp21 |
T |
G |
9: 112,147,448 |
T322P |
probably damaging |
Het |
| Atp6v1c2 |
C |
T |
12: 17,301,147 |
V128M |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,729,905 |
V1523A |
possibly damaging |
Het |
| Copg2 |
G |
C |
6: 30,826,180 |
L277V |
probably benign |
Het |
| Cyp2b19 |
A |
G |
7: 26,757,220 |
T12A |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,629,680 |
C115S |
probably damaging |
Het |
| Defb35 |
G |
A |
8: 21,940,790 |
R60Q |
unknown |
Het |
| Dlgap3 |
T |
A |
4: 127,195,017 |
D135E |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,117,645 |
W2215R |
possibly damaging |
Het |
| Eea1 |
G |
C |
10: 96,021,655 |
A660P |
|
Het |
| Egfr |
A |
G |
11: 16,908,885 |
I955V |
possibly damaging |
Het |
| Eif3b |
G |
A |
5: 140,440,019 |
V655M |
probably damaging |
Het |
| Elp3 |
T |
A |
14: 65,577,941 |
I220F |
probably benign |
Het |
| Ern2 |
A |
G |
7: 122,173,744 |
V550A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,303,303 |
S857L |
possibly damaging |
Het |
| Glt28d2 |
T |
A |
3: 85,871,780 |
M129L |
probably benign |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 117,975,733 |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,671,975 |
Y2742N |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,947,229 |
Q541L |
possibly damaging |
Het |
| Myh14 |
G |
A |
7: 44,616,254 |
T1559I |
probably benign |
Het |
| Myo7b |
A |
G |
18: 31,986,691 |
F783L |
possibly damaging |
Het |
| Myrip |
C |
T |
9: 120,461,421 |
A702V |
probably damaging |
Het |
| Ndnf |
C |
A |
6: 65,703,177 |
Q147K |
probably benign |
Het |
| Necab2 |
C |
G |
8: 119,462,600 |
R170G |
possibly damaging |
Het |
| Nfatc4 |
T |
C |
14: 55,826,233 |
I59T |
probably damaging |
Het |
| Nfix |
A |
G |
8: 84,727,647 |
S211P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,418,300 |
Q483L |
possibly damaging |
Het |
| Olfr427 |
T |
C |
1: 174,100,295 |
V279A |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,194,823 |
T245A |
possibly damaging |
Het |
| Peli2 |
C |
T |
14: 48,256,488 |
T389M |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,073,455 |
|
probably null |
Het |
| Plch1 |
T |
C |
3: 63,781,546 |
D67G |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,606,856 |
R298* |
probably null |
Het |
| Ppp1r13l |
A |
G |
7: 19,369,968 |
I125V |
probably benign |
Het |
| Ppp2r3a |
A |
G |
9: 101,212,911 |
V71A |
probably benign |
Het |
| Pvr |
A |
G |
7: 19,916,972 |
V209A |
possibly damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,407,372 |
L414P |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,414,825 |
D601G |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,912,089 |
N199K |
probably benign |
Het |
| Rin2 |
G |
T |
2: 145,876,555 |
A652S |
possibly damaging |
Het |
| Rnf34 |
T |
C |
5: 122,864,024 |
L88P |
possibly damaging |
Het |
| Serpina3m |
A |
G |
12: 104,389,655 |
I194V |
probably benign |
Het |
| Spred3 |
A |
G |
7: 29,161,990 |
S255P |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,491,716 |
|
probably null |
Het |
| Synpo2l |
C |
A |
14: 20,661,374 |
G622C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,342,347 |
C582R |
probably damaging |
Het |
| Tex261 |
A |
T |
6: 83,773,745 |
I90N |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,529,404 |
F100S |
probably damaging |
Het |
| Trhde |
G |
A |
10: 114,800,925 |
P126S |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,581,810 |
V694E |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,615,855 |
L600Q |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,657,264 |
C2174Y |
|
Het |
| Wee2 |
A |
G |
6: 40,464,266 |
T502A |
probably benign |
Het |
| Zfp112 |
A |
T |
7: 24,123,965 |
|
silent |
Het |
| Zfp40 |
T |
A |
17: 23,175,717 |
H632L |
possibly damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,690,929 |
S378G |
probably damaging |
Het |
|
| Other mutations in Pfas |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Pfas
|
APN |
11 |
69,003,814 (GRCm38) |
nonsense |
probably null |
|
|
IGL01287:Pfas
|
APN |
11 |
69,001,260 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01712:Pfas
|
APN |
11 |
68,991,060 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL02019:Pfas
|
APN |
11 |
68,993,463 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02053:Pfas
|
APN |
11 |
68,992,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02718:Pfas
|
APN |
11 |
69,000,145 (GRCm38) |
splice site |
probably benign |
|
|
IGL02801:Pfas
|
APN |
11 |
68,988,277 (GRCm38) |
unclassified |
probably benign |
|
|
Surf
|
UTSW |
11 |
68,988,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Pfas
|
UTSW |
11 |
68,990,036 (GRCm38) |
missense |
|
|
|
R0037:Pfas
|
UTSW |
11 |
69,000,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0046:Pfas
|
UTSW |
11 |
68,990,467 (GRCm38) |
missense |
probably benign |
|
|
R0046:Pfas
|
UTSW |
11 |
68,990,467 (GRCm38) |
missense |
probably benign |
|
|
R0408:Pfas
|
UTSW |
11 |
69,001,105 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0532:Pfas
|
UTSW |
11 |
69,002,629 (GRCm38) |
splice site |
probably benign |
|
|
R0707:Pfas
|
UTSW |
11 |
68,998,037 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0783:Pfas
|
UTSW |
11 |
69,000,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0946:Pfas
|
UTSW |
11 |
68,990,747 (GRCm38) |
splice site |
probably null |
|
|
R0946:Pfas
|
UTSW |
11 |
68,993,295 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1470:Pfas
|
UTSW |
11 |
68,991,359 (GRCm38) |
missense |
probably benign |
|
|
R1470:Pfas
|
UTSW |
11 |
68,991,359 (GRCm38) |
missense |
probably benign |
|
|
R1507:Pfas
|
UTSW |
11 |
68,990,034 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1699:Pfas
|
UTSW |
11 |
68,998,046 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1870:Pfas
|
UTSW |
11 |
68,991,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1871:Pfas
|
UTSW |
11 |
68,991,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1959:Pfas
|
UTSW |
11 |
68,994,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2026:Pfas
|
UTSW |
11 |
68,993,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2180:Pfas
|
UTSW |
11 |
68,992,187 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3808:Pfas
|
UTSW |
11 |
68,989,953 (GRCm38) |
intron |
probably benign |
|
|
R3809:Pfas
|
UTSW |
11 |
68,989,953 (GRCm38) |
intron |
probably benign |
|
|
R3872:Pfas
|
UTSW |
11 |
69,000,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3906:Pfas
|
UTSW |
11 |
68,988,286 (GRCm38) |
unclassified |
probably benign |
|
|
R4092:Pfas
|
UTSW |
11 |
68,993,949 (GRCm38) |
missense |
probably benign |
|
|
R4437:Pfas
|
UTSW |
11 |
68,988,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4599:Pfas
|
UTSW |
11 |
68,991,069 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4763:Pfas
|
UTSW |
11 |
68,990,194 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5116:Pfas
|
UTSW |
11 |
68,990,990 (GRCm38) |
intron |
probably benign |
|
|
R5310:Pfas
|
UTSW |
11 |
68,988,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5328:Pfas
|
UTSW |
11 |
68,988,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5351:Pfas
|
UTSW |
11 |
68,991,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5427:Pfas
|
UTSW |
11 |
69,001,153 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5533:Pfas
|
UTSW |
11 |
68,991,470 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5602:Pfas
|
UTSW |
11 |
68,991,045 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5637:Pfas
|
UTSW |
11 |
68,993,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5645:Pfas
|
UTSW |
11 |
68,991,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6149:Pfas
|
UTSW |
11 |
68,991,945 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6295:Pfas
|
UTSW |
11 |
68,997,999 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6305:Pfas
|
UTSW |
11 |
69,001,197 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R6387:Pfas
|
UTSW |
11 |
69,000,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6425:Pfas
|
UTSW |
11 |
68,991,071 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6523:Pfas
|
UTSW |
11 |
68,990,457 (GRCm38) |
missense |
probably benign |
|
|
R6914:Pfas
|
UTSW |
11 |
68,992,181 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6915:Pfas
|
UTSW |
11 |
68,992,181 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6945:Pfas
|
UTSW |
11 |
69,000,530 (GRCm38) |
missense |
probably benign |
|
|
R6957:Pfas
|
UTSW |
11 |
68,993,883 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7025:Pfas
|
UTSW |
11 |
68,990,760 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7257:Pfas
|
UTSW |
11 |
68,992,959 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7386:Pfas
|
UTSW |
11 |
69,003,774 (GRCm38) |
missense |
probably benign |
|
|
R7424:Pfas
|
UTSW |
11 |
69,000,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7459:Pfas
|
UTSW |
11 |
68,988,655 (GRCm38) |
missense |
|
|
|
R7593:Pfas
|
UTSW |
11 |
68,991,095 (GRCm38) |
missense |
|
|
|
R7731:Pfas
|
UTSW |
11 |
69,000,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8103:Pfas
|
UTSW |
11 |
68,992,293 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8248:Pfas
|
UTSW |
11 |
69,000,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8804:Pfas
|
UTSW |
11 |
68,991,082 (GRCm38) |
missense |
|
|
|
R9032:Pfas
|
UTSW |
11 |
68,988,595 (GRCm38) |
missense |
|
|
|
R9050:Pfas
|
UTSW |
11 |
68,991,741 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9283:Pfas
|
UTSW |
11 |
68,993,882 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9644:Pfas
|
UTSW |
11 |
68,992,716 (GRCm38) |
missense |
probably benign |
0.23 |
|
Z1176:Pfas
|
UTSW |
11 |
69,002,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Pfas
|
UTSW |
11 |
68,990,070 (GRCm38) |
missense |
|
|
|
Z1177:Pfas
|
UTSW |
11 |
69,002,493 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Pfas
|
UTSW |
11 |
68,990,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCGCACACTCAGTTCTG -3'
(R):5'- GGGTGGGAACATTTCTCCTG -3'
Sequencing Primer
(F):5'- CACTCAGTTCTGGGGGCAAAG -3'
(R):5'- TAGGCTCGTTCCCTGCCG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation