Incidental Mutation 'R3822:Flad1'
| ID |
275216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flad1
|
| Ensembl Gene |
ENSMUSG00000042642 |
| Gene Name |
flavin adenine dinucleotide synthetase 1 |
| Synonyms |
Pp591, A930017E24Rik |
| MMRRC Submission |
040884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.889)
|
| Stock # |
R3822 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89309980-89319188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89318494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 20
(I20F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029679]
[ENSMUST00000050398]
[ENSMUST00000107422]
[ENSMUST00000107426]
[ENSMUST00000107429]
[ENSMUST00000129308]
[ENSMUST00000162701]
[ENSMUST00000183484]
|
| AlphaFold |
Q8R123 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029679
|
| SMART Domains |
Protein: ENSMUSP00000029679
Gene: ENSMUSG00000028044
| Domain | Start | End | E-Value | Type |
|---|
|
CKS
|
5 |
74 |
4.1e-48 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050398
AA Change: I20F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051366
Gene: ENSMUSG00000042642
AA Change: I20F
| Domain | Start | End | E-Value | Type |
|---|
|
MoCF_biosynth
|
19 |
180 |
7.52e-24 |
SMART |
|
Pfam:PAPS_reduct
|
303 |
460 |
5.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107422
|
| SMART Domains |
Protein: ENSMUSP00000103045
Gene: ENSMUSG00000028044
| Domain | Start | End | E-Value | Type |
|---|
|
CKS
|
1 |
52 |
3.88e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107426
AA Change: I20F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103049
Gene: ENSMUSG00000042642
AA Change: I20F
| Domain | Start | End | E-Value | Type |
|---|
|
MoCF_biosynth
|
19 |
180 |
7.52e-24 |
SMART |
|
Pfam:PAPS_reduct
|
303 |
460 |
4.7e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107429
AA Change: I20F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103052
Gene: ENSMUSG00000042642
AA Change: I20F
| Domain | Start | End | E-Value | Type |
|---|
|
MoCF_biosynth
|
19 |
174 |
2.06e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129308
AA Change: I20F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122252
Gene: ENSMUSG00000042642
AA Change: I20F
| Domain | Start | End | E-Value | Type |
|---|
|
MoCF_biosynth
|
19 |
180 |
7.52e-24 |
SMART |
|
Pfam:PAPS_reduct
|
303 |
460 |
4.7e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162701
AA Change: I20F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125654
Gene: ENSMUSG00000042642
AA Change: I20F
| Domain | Start | End | E-Value | Type |
|---|
|
MoCF_biosynth
|
19 |
99 |
1.11e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183484
|
| SMART Domains |
Protein: ENSMUSP00000138900
Gene: ENSMUSG00000028044
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CKS
|
5 |
36 |
2.4e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.2376 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(19) : Targeted(3) Gene trapped(16)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
| Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
| Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Chka |
A |
G |
19: 3,932,038 (GRCm39) |
|
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Cth |
A |
G |
3: 157,624,136 (GRCm39) |
F127S |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,184,070 (GRCm39) |
|
probably benign |
Het |
| Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,800,260 (GRCm39) |
S113P |
probably benign |
Het |
| Herpud2 |
G |
A |
9: 25,036,220 (GRCm39) |
Q147* |
probably null |
Het |
| Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
| Hlcs |
T |
C |
16: 94,068,840 (GRCm39) |
N274D |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,539,913 (GRCm39) |
I176T |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
| Psmb7 |
A |
T |
2: 38,503,440 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,664,550 (GRCm39) |
T60M |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,706,092 (GRCm39) |
V639A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
| Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,867,451 (GRCm39) |
|
probably benign |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,251 (GRCm39) |
V19E |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
| Wdr4 |
T |
G |
17: 31,731,195 (GRCm39) |
Q55P |
probably damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,657,769 (GRCm39) |
L714Q |
probably damaging |
Het |
|
| Other mutations in Flad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Flad1
|
APN |
3 |
89,313,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02065:Flad1
|
APN |
3 |
89,316,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
brick
|
UTSW |
3 |
89,318,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Impaler
|
UTSW |
3 |
89,310,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
stone
|
UTSW |
3 |
89,316,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Flad1
|
UTSW |
3 |
89,309,552 (GRCm39) |
nonsense |
probably null |
|
|
R3821:Flad1
|
UTSW |
3 |
89,318,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4458:Flad1
|
UTSW |
3 |
89,316,241 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4838:Flad1
|
UTSW |
3 |
89,313,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Flad1
|
UTSW |
3 |
89,318,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6522:Flad1
|
UTSW |
3 |
89,310,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Flad1
|
UTSW |
3 |
89,315,897 (GRCm39) |
missense |
probably benign |
|
|
R7000:Flad1
|
UTSW |
3 |
89,309,549 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7114:Flad1
|
UTSW |
3 |
89,314,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7127:Flad1
|
UTSW |
3 |
89,310,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Flad1
|
UTSW |
3 |
89,315,972 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7626:Flad1
|
UTSW |
3 |
89,310,718 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7662:Flad1
|
UTSW |
3 |
89,310,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8097:Flad1
|
UTSW |
3 |
89,316,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Flad1
|
UTSW |
3 |
89,316,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8332:Flad1
|
UTSW |
3 |
89,314,828 (GRCm39) |
missense |
probably benign |
|
|
R8531:Flad1
|
UTSW |
3 |
89,310,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Flad1
|
UTSW |
3 |
89,316,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Flad1
|
UTSW |
3 |
89,315,858 (GRCm39) |
nonsense |
probably null |
|
|
R9271:Flad1
|
UTSW |
3 |
89,315,858 (GRCm39) |
nonsense |
probably null |
|
|
R9767:Flad1
|
UTSW |
3 |
89,310,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTTCCTCCAATGTGTTAGGAC -3'
(R):5'- AAGGTACACTCCTGACGTCTTC -3'
Sequencing Primer
(F):5'- CAATGTGTTAGGACTCACTCCAGG -3'
(R):5'- CCGGAACTCAGGGTATGGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation