Incidental Mutation 'R2311:Flg'
| ID |
245335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flg
|
| Ensembl Gene |
ENSMUSG00000102439 |
| Gene Name |
filaggrin |
| Synonyms |
profilaggrin, ft, fillagrin |
| MMRRC Submission |
040310-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R2311 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93180853-93200996 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 93200260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050758]
[ENSMUST00000179250]
[ENSMUST00000180293]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000050758
AA Change: D252G
|
| SMART Domains |
Protein: ENSMUSP00000142294
Gene: ENSMUSG00000102439
AA Change: D252G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179250
|
| SMART Domains |
Protein: ENSMUSP00000141513
Gene: ENSMUSG00000102439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180293
|
| SMART Domains |
Protein: ENSMUSP00000141844
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 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214837
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
G |
A |
15: 77,602,236 (GRCm39) |
R278H |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,578,111 (GRCm39) |
S946P |
probably benign |
Het |
| Capsl |
A |
T |
15: 9,462,689 (GRCm39) |
R110* |
probably null |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,160,368 (GRCm39) |
I1757N |
possibly damaging |
Het |
| Dthd1 |
T |
C |
5: 62,996,580 (GRCm39) |
|
probably benign |
Het |
| Eif5a2 |
A |
G |
3: 28,836,325 (GRCm39) |
E42G |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,121,639 (GRCm39) |
S61G |
probably benign |
Het |
| Elp4 |
T |
C |
2: 105,672,677 (GRCm39) |
N136S |
probably benign |
Het |
| Elp6 |
A |
G |
9: 110,149,886 (GRCm39) |
S223G |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,503,675 (GRCm39) |
D743E |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,535,194 (GRCm39) |
Q85R |
probably damaging |
Het |
| Fermt3 |
C |
A |
19: 6,991,530 (GRCm39) |
C194F |
probably damaging |
Het |
| Gfi1b |
C |
T |
2: 28,500,186 (GRCm39) |
G282R |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,109,927 (GRCm39) |
I444K |
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,797 (GRCm39) |
K153E |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,408,970 (GRCm39) |
M95K |
possibly damaging |
Het |
| Hgs |
C |
T |
11: 120,370,474 (GRCm39) |
R167W |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,198,784 (GRCm39) |
I130T |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,456,489 (GRCm39) |
Y25N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,335,240 (GRCm39) |
V629I |
probably benign |
Het |
| Nrl |
C |
A |
14: 55,759,909 (GRCm39) |
S6I |
probably damaging |
Het |
| Or10am5 |
A |
T |
7: 6,517,741 (GRCm39) |
M229K |
probably benign |
Het |
| Or4c29 |
T |
A |
2: 88,739,813 (GRCm39) |
D308V |
probably benign |
Het |
| Or5d37 |
T |
C |
2: 87,924,178 (GRCm39) |
N34S |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,211 (GRCm39) |
F377S |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,427,162 (GRCm39) |
S91P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,292,644 (GRCm39) |
Y737F |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,388 (GRCm39) |
I94F |
possibly damaging |
Het |
| Serpine2 |
A |
G |
1: 79,788,265 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,013 (GRCm39) |
R816G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,071,024 (GRCm39) |
N2092D |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,748 (GRCm39) |
V171A |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,533,934 (GRCm39) |
V163M |
probably benign |
Het |
| Trim59 |
G |
T |
3: 68,945,162 (GRCm39) |
C59* |
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vill |
A |
G |
9: 118,894,965 (GRCm39) |
N61S |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,991,834 (GRCm39) |
R662H |
probably damaging |
Het |
| Zfp644 |
A |
C |
5: 106,782,822 (GRCm39) |
V1184G |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,609,866 (GRCm39) |
S620P |
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 |
|
|
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 |
|
R5925:Flg
|
UTSW |
3 |
93,186,706 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TACTATGAGCAAGAACACAGCG -3'
(R):5'- ATGGACTCATATCCTCCCTGAC -3'
Sequencing Primer
(F):5'- AGGAGTCCGATTCCCAGCAC -3'
(R):5'- TGACCACTTGCTGCTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation