Incidental Mutation 'R5296:Flad1'
| ID |
405400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flad1
|
| Ensembl Gene |
ENSMUSG00000042642 |
| Gene Name |
flavin adenine dinucleotide synthetase 1 |
| Synonyms |
Pp591, A930017E24Rik |
| MMRRC Submission |
042879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.889)
|
| Stock # |
R5296 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89309980-89319188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89318503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 17
(T17A)
|
| 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: T17A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051366
Gene: ENSMUSG00000042642
AA Change: T17A
| 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: T17A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103049
Gene: ENSMUSG00000042642
AA Change: T17A
| 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: T17A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103052
Gene: ENSMUSG00000042642
AA Change: T17A
| Domain | Start | End | E-Value | Type |
|---|
|
MoCF_biosynth
|
19 |
174 |
2.06e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129308
AA Change: T17A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122252
Gene: ENSMUSG00000042642
AA Change: T17A
| 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: T17A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125654
Gene: ENSMUSG00000042642
AA Change: T17A
| 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 |
0.1980 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobr |
A |
C |
7: 126,187,196 (GRCm39) |
D89A |
probably damaging |
Het |
| Bhlhe41 |
C |
T |
6: 145,808,694 (GRCm39) |
|
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,023,523 (GRCm39) |
V674M |
probably benign |
Het |
| Cavin2 |
T |
C |
1: 51,329,029 (GRCm39) |
|
probably null |
Het |
| Cd300lb |
T |
C |
11: 114,815,763 (GRCm39) |
S106G |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,121 (GRCm39) |
V132A |
probably benign |
Het |
| Ddi2 |
G |
T |
4: 141,412,076 (GRCm39) |
Q279K |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,847,151 (GRCm39) |
V4304A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Epsti1 |
T |
A |
14: 78,142,090 (GRCm39) |
H55Q |
probably benign |
Het |
| Fzd2 |
C |
T |
11: 102,496,981 (GRCm39) |
T475M |
probably damaging |
Het |
| Gemin5 |
C |
A |
11: 58,020,887 (GRCm39) |
W1099L |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,964 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
A |
G |
2: 180,897,779 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
| Gvin-ps3 |
A |
T |
7: 105,681,055 (GRCm39) |
|
noncoding transcript |
Het |
| Hltf |
T |
C |
3: 20,162,276 (GRCm39) |
S825P |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,820 (GRCm39) |
Q902L |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,537,353 (GRCm39) |
P1037L |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lama5 |
A |
C |
2: 179,835,594 (GRCm39) |
L1253R |
probably damaging |
Het |
| Lancl2 |
T |
G |
6: 57,701,567 (GRCm39) |
S230A |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,292,549 (GRCm39) |
M134V |
probably damaging |
Het |
| Lrrc23 |
C |
A |
6: 124,751,445 (GRCm39) |
A205S |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,590,961 (GRCm39) |
I234N |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,124,061 (GRCm39) |
S386P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,082,060 (GRCm39) |
F313V |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,786,032 (GRCm39) |
Q643L |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,555,745 (GRCm39) |
S2G |
unknown |
Het |
| Olfr908 |
T |
C |
9: 38,427,412 (GRCm39) |
F28S |
probably damaging |
Het |
| Or10z1 |
G |
T |
1: 174,078,322 (GRCm39) |
T57K |
possibly damaging |
Het |
| Or2n1d |
C |
T |
17: 38,646,347 (GRCm39) |
Q100* |
probably null |
Het |
| Or4x6 |
A |
T |
2: 89,949,043 (GRCm39) |
W300R |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,048 (GRCm39) |
V2245A |
probably damaging |
Het |
| Pkdrej |
G |
A |
15: 85,701,319 (GRCm39) |
T1539I |
possibly damaging |
Het |
| Plch2 |
G |
T |
4: 155,074,456 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,434,609 (GRCm39) |
R34H |
probably damaging |
Het |
| Rgs12 |
T |
C |
5: 35,178,448 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,890 (GRCm39) |
I338T |
probably damaging |
Het |
| Sapcd1 |
T |
A |
17: 35,245,707 (GRCm39) |
Q104L |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,836,066 (GRCm39) |
E575G |
probably damaging |
Het |
| Sema6b |
T |
A |
17: 56,434,091 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
T |
C |
11: 70,537,011 (GRCm39) |
N15D |
probably damaging |
Het |
| Slc26a6 |
C |
T |
9: 108,737,845 (GRCm39) |
T526M |
probably damaging |
Het |
| Tcaf3 |
G |
T |
6: 42,564,444 (GRCm39) |
T906K |
possibly damaging |
Het |
| Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
| Traf2 |
A |
G |
2: 25,410,452 (GRCm39) |
L399P |
probably damaging |
Het |
| Troap |
T |
A |
15: 98,976,698 (GRCm39) |
V274D |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,277,099 (GRCm39) |
T3406M |
probably damaging |
Het |
| Uts2 |
G |
T |
4: 151,083,508 (GRCm39) |
A40S |
possibly damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,603 (GRCm39) |
I251F |
possibly damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,786,230 (GRCm39) |
S592P |
probably damaging |
Het |
| Vps13b |
T |
G |
15: 35,876,559 (GRCm39) |
W2797G |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,981 (GRCm39) |
M51K |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,437,955 (GRCm39) |
|
probably benign |
Het |
| Zfp882 |
T |
A |
8: 72,668,204 (GRCm39) |
F344I |
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 |
|
R3822: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 |
|
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'- TGTGTTAGGACTCACTCCAGGG -3'
(R):5'- GAAGGTACACTCCTGACGTCTTC -3'
Sequencing Primer
(F):5'- ACTCCAGGGCCGGACTTTG -3'
(R):5'- GTACACTCCTGACGTCTTCATTGTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation