Incidental Mutation 'R5925:Flg'
| ID |
461776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flg
|
| Ensembl Gene |
ENSMUSG00000102439 |
| Gene Name |
filaggrin |
| Synonyms |
profilaggrin, ft, fillagrin |
| MMRRC Submission |
044120-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R5925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93180853-93200996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93186706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 53
(I53F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178008]
[ENSMUST00000178695]
[ENSMUST00000178752]
[ENSMUST00000180308]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122125
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148311
AA Change: I53F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141768
Gene: ENSMUSG00000081977
AA Change: I53F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
4 |
47 |
1.1e-15 |
PFAM |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178008
|
| SMART Domains |
Protein: ENSMUSP00000141981
Gene: ENSMUSG00000102439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178695
|
| SMART Domains |
Protein: ENSMUSP00000141392
Gene: ENSMUSG00000102439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178752
|
| SMART Domains |
Protein: ENSMUSP00000141273
Gene: ENSMUSG00000102439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180308
AA Change: I53F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142003
Gene: ENSMUSG00000102439
AA Change: I53F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
4 |
47 |
1.1e-15 |
PFAM |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216295
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
C |
T |
5: 66,147,735 (GRCm39) |
W16* |
probably null |
Het |
| Abca8a |
T |
C |
11: 109,948,049 (GRCm39) |
D985G |
probably damaging |
Het |
| Afp |
T |
A |
5: 90,645,147 (GRCm39) |
C188S |
probably damaging |
Het |
| Ank2 |
A |
C |
3: 126,726,612 (GRCm39) |
L894R |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,289,344 (GRCm39) |
I60T |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,175,064 (GRCm39) |
V1733A |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,183,593 (GRCm39) |
S136P |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,703,227 (GRCm39) |
S393P |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,098,263 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,988 (GRCm39) |
V491A |
unknown |
Het |
| Dync2i1 |
A |
T |
12: 116,197,014 (GRCm39) |
F448I |
possibly damaging |
Het |
| Ehf |
T |
C |
2: 103,097,338 (GRCm39) |
|
probably null |
Het |
| Eif2b5 |
C |
T |
16: 20,326,874 (GRCm39) |
H99Y |
probably benign |
Het |
| Exosc10 |
C |
A |
4: 148,657,819 (GRCm39) |
T655K |
probably benign |
Het |
| Hc |
T |
A |
2: 34,920,462 (GRCm39) |
D628V |
possibly damaging |
Het |
| Lmo4 |
A |
T |
3: 143,900,252 (GRCm39) |
N83K |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,342,029 (GRCm39) |
T1881S |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,564,439 (GRCm39) |
L66Q |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,040,376 (GRCm39) |
S314P |
probably benign |
Het |
| Mpzl3 |
G |
T |
9: 44,973,412 (GRCm39) |
K50N |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,948 (GRCm39) |
Q1992K |
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,785,860 (GRCm39) |
N645K |
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,106,482 (GRCm39) |
I49T |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,692,744 (GRCm39) |
D119G |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,063,724 (GRCm39) |
D129E |
probably damaging |
Het |
| Prb1a |
A |
G |
6: 132,187,475 (GRCm39) |
L2P |
unknown |
Het |
| Rhbdf1 |
A |
G |
11: 32,162,906 (GRCm39) |
Y454H |
probably benign |
Het |
| Satb2 |
C |
T |
1: 56,836,097 (GRCm39) |
A565T |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,051 (GRCm39) |
L889Q |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,713 (GRCm39) |
|
probably null |
Het |
| Slc35e2 |
T |
C |
4: 155,696,084 (GRCm39) |
V157A |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,115,946 (GRCm39) |
V291A |
probably benign |
Het |
| Snph |
T |
C |
2: 151,436,151 (GRCm39) |
D190G |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,943 (GRCm39) |
H170R |
probably benign |
Het |
| Trav18 |
A |
G |
14: 54,069,152 (GRCm39) |
T65A |
probably benign |
Het |
| Trip12 |
G |
A |
1: 84,726,974 (GRCm39) |
Q9* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,632,592 (GRCm39) |
C12408Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,639,355 (GRCm39) |
D13806G |
probably damaging |
Het |
| Unc79 |
G |
C |
12: 103,091,989 (GRCm39) |
|
probably null |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,637 (GRCm39) |
S4P |
probably damaging |
Het |
| Zfp37 |
G |
A |
4: 62,109,450 (GRCm39) |
T576I |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,099 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,366,853 (GRCm39) |
H744R |
possibly damaging |
Het |
|
| Other mutations in Flg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01080:Flg
|
APN |
3 |
93,186,906 (GRCm39) |
missense |
probably benign |
0.41 |
|
FR4342:Flg
|
UTSW |
3 |
93,197,820 (GRCm39) |
unclassified |
probably benign |
|
|
R0046:Flg
|
UTSW |
3 |
93,185,028 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Flg
|
UTSW |
3 |
93,185,028 (GRCm39) |
splice site |
probably benign |
|
|
R0538:Flg
|
UTSW |
3 |
93,186,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Flg
|
UTSW |
3 |
93,187,220 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1767:Flg
|
UTSW |
3 |
93,187,220 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2024:Flg
|
UTSW |
3 |
93,186,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2213:Flg
|
UTSW |
3 |
93,200,335 (GRCm39) |
unclassified |
probably benign |
|
|
R2311:Flg
|
UTSW |
3 |
93,200,260 (GRCm39) |
unclassified |
probably benign |
|
|
R2513:Flg
|
UTSW |
3 |
93,187,093 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3892:Flg
|
UTSW |
3 |
93,186,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3911:Flg
|
UTSW |
3 |
93,187,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4207:Flg
|
UTSW |
3 |
93,187,169 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4385:Flg
|
UTSW |
3 |
93,200,316 (GRCm39) |
unclassified |
probably benign |
|
|
R4939:Flg
|
UTSW |
3 |
93,187,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5084:Flg
|
UTSW |
3 |
93,184,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5540:Flg
|
UTSW |
3 |
93,184,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Flg
|
UTSW |
3 |
93,186,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6130:Flg
|
UTSW |
3 |
93,200,023 (GRCm39) |
unclassified |
probably benign |
|
|
R6144:Flg
|
UTSW |
3 |
93,190,515 (GRCm39) |
unclassified |
probably benign |
|
|
R6184:Flg
|
UTSW |
3 |
93,187,357 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6230:Flg
|
UTSW |
3 |
93,186,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Flg
|
UTSW |
3 |
93,195,482 (GRCm39) |
unclassified |
probably benign |
|
|
R6360:Flg
|
UTSW |
3 |
93,197,908 (GRCm39) |
unclassified |
probably benign |
|
|
R6400:Flg
|
UTSW |
3 |
93,187,228 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6464:Flg
|
UTSW |
3 |
93,188,688 (GRCm39) |
unclassified |
probably benign |
|
|
R6586:Flg
|
UTSW |
3 |
93,200,290 (GRCm39) |
unclassified |
probably benign |
|
|
R6685:Flg
|
UTSW |
3 |
93,186,716 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6769:Flg
|
UTSW |
3 |
93,195,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6771:Flg
|
UTSW |
3 |
93,195,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6948:Flg
|
UTSW |
3 |
93,195,475 (GRCm39) |
unclassified |
probably benign |
|
|
R7102:Flg
|
UTSW |
3 |
93,200,335 (GRCm39) |
missense |
unknown |
|
|
R7186:Flg
|
UTSW |
3 |
93,187,252 (GRCm39) |
nonsense |
probably null |
|
|
R7222:Flg
|
UTSW |
3 |
93,195,621 (GRCm39) |
missense |
unknown |
|
|
R7248:Flg
|
UTSW |
3 |
93,189,041 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7702:Flg
|
UTSW |
3 |
93,200,089 (GRCm39) |
missense |
unknown |
|
|
R7962:Flg
|
UTSW |
3 |
93,193,984 (GRCm39) |
missense |
unknown |
|
|
R8109:Flg
|
UTSW |
3 |
93,197,734 (GRCm39) |
missense |
unknown |
|
|
R8308:Flg
|
UTSW |
3 |
93,190,586 (GRCm39) |
missense |
unknown |
|
|
R8322:Flg
|
UTSW |
3 |
93,191,639 (GRCm39) |
missense |
unknown |
|
|
R8544:Flg
|
UTSW |
3 |
93,195,448 (GRCm39) |
unclassified |
probably benign |
|
|
R9219:Flg
|
UTSW |
3 |
93,198,406 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Z1176:Flg
|
UTSW |
3 |
93,187,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAAGTCAGCCTGCTTAATTTG -3'
(R):5'- ACCATGCCTCCGTCTAAGATTC -3'
Sequencing Primer
(F):5'- CAGCCTGCTTAATTTGAGAAAGATGG -3'
(R):5'- ATGCCTCCGTCTAAGATTCTGTTTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation