Incidental Mutation 'R6360:Flg'
| ID |
513051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flg
|
| Ensembl Gene |
ENSMUSG00000102439 |
| Gene Name |
filaggrin |
| Synonyms |
profilaggrin, ft, fillagrin |
| MMRRC Submission |
044510-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R6360 (G1)
|
| Quality Score |
116.008 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93180853-93200996 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 93197908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050758]
[ENSMUST00000179250]
[ENSMUST00000179477]
[ENSMUST00000180293]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050758
|
| SMART Domains |
Protein: ENSMUSP00000142294
Gene: ENSMUSG00000102439
| 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: ENSMUST00000179477
|
| SMART Domains |
Protein: ENSMUSP00000141987
Gene: ENSMUSG00000102439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
49 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
50 |
85 |
7.34e-5 |
PROSPERO |
|
low complexity region
|
91 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
204 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
222 |
255 |
7.34e-5 |
PROSPERO |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000180293
AA Change: N79S
|
| SMART Domains |
Protein: ENSMUSP00000141844
Gene: ENSMUSG00000102439
AA Change: N79S
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
G |
A |
8: 77,985,831 (GRCm39) |
Q657* |
probably null |
Het |
| Car15 |
T |
C |
16: 17,655,930 (GRCm39) |
T560A |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,274,531 (GRCm39) |
H769Y |
probably damaging |
Het |
| Cdh6 |
A |
G |
15: 13,041,546 (GRCm39) |
I506T |
possibly damaging |
Het |
| Clstn3 |
G |
T |
6: 124,415,388 (GRCm39) |
R659S |
possibly damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,359,461 (GRCm39) |
R695* |
probably null |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Dab2ip |
A |
G |
2: 35,600,278 (GRCm39) |
H355R |
probably benign |
Het |
| Dennd2a |
C |
T |
6: 39,470,076 (GRCm39) |
A539T |
probably benign |
Het |
| Dnajc18 |
T |
C |
18: 35,819,762 (GRCm39) |
E173G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,857,899 (GRCm39) |
I1472V |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,574,931 (GRCm39) |
F714I |
probably damaging |
Het |
| Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
| Fyn |
C |
A |
10: 39,402,879 (GRCm39) |
T217K |
possibly damaging |
Het |
| Gbp9 |
T |
C |
5: 105,231,596 (GRCm39) |
D330G |
probably benign |
Het |
| Gin1 |
T |
C |
1: 97,720,264 (GRCm39) |
S509P |
possibly damaging |
Het |
| Gm17067 |
A |
C |
7: 42,357,906 (GRCm39) |
S199A |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,831,881 (GRCm39) |
K50M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,629,481 (GRCm39) |
H272R |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,626,336 (GRCm39) |
L48Q |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,191 (GRCm39) |
I515T |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,351,208 (GRCm39) |
S190R |
possibly damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,064,096 (GRCm39) |
N336S |
probably benign |
Het |
| Lbr |
G |
T |
1: 181,659,720 (GRCm39) |
D158E |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,039,703 (GRCm39) |
Q89R |
probably benign |
Het |
| Nectin3 |
T |
A |
16: 46,231,472 (GRCm39) |
T21S |
probably benign |
Het |
| Numb |
C |
A |
12: 83,844,036 (GRCm39) |
R383L |
probably damaging |
Het |
| Or2p2 |
A |
T |
13: 21,256,753 (GRCm39) |
N239K |
probably damaging |
Het |
| Or9a7 |
G |
T |
6: 40,521,647 (GRCm39) |
Q89K |
possibly damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,212 (GRCm39) |
I181F |
probably benign |
Het |
| Pcgf2 |
T |
A |
11: 97,583,235 (GRCm39) |
|
probably null |
Het |
| Pdzd8 |
T |
C |
19: 59,289,415 (GRCm39) |
T662A |
probably benign |
Het |
| Pex13 |
A |
C |
11: 23,605,690 (GRCm39) |
V180G |
probably benign |
Het |
| Pira1 |
A |
T |
7: 3,739,503 (GRCm39) |
L455Q |
probably damaging |
Het |
| Pkp4 |
T |
A |
2: 59,045,091 (GRCm39) |
V22D |
probably benign |
Het |
| Prkn |
T |
C |
17: 12,222,939 (GRCm39) |
F363S |
probably damaging |
Het |
| Prpf4b |
A |
C |
13: 35,085,416 (GRCm39) |
D954A |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,720,125 (GRCm39) |
I317V |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,868 (GRCm39) |
S198P |
probably damaging |
Het |
| Rock1 |
A |
T |
18: 10,116,778 (GRCm39) |
C453S |
possibly damaging |
Het |
| Saxo4 |
T |
C |
19: 10,456,845 (GRCm39) |
N167D |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,406,495 (GRCm39) |
G260W |
probably damaging |
Het |
| Scyl1 |
T |
C |
19: 5,810,599 (GRCm39) |
E538G |
probably damaging |
Het |
| Sec14l5 |
A |
T |
16: 4,990,859 (GRCm39) |
I267F |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,021,088 (GRCm39) |
V256D |
probably benign |
Het |
| Sf3b4 |
G |
A |
3: 96,084,044 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,099,408 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
A |
C |
6: 42,377,769 (GRCm39) |
M200L |
probably benign |
Het |
| Tbc1d22a |
C |
T |
15: 86,098,830 (GRCm39) |
P19S |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,214,067 (GRCm39) |
F313L |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,233,189 (GRCm39) |
M1K |
probably null |
Het |
| Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,468,866 (GRCm39) |
E285G |
probably damaging |
Het |
| Txndc11 |
C |
T |
16: 10,902,656 (GRCm39) |
V664M |
probably damaging |
Het |
| Ube2g1 |
A |
T |
11: 72,553,908 (GRCm39) |
N20Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,265,476 (GRCm39) |
I369L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,660,489 (GRCm39) |
T2666S |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,369 (GRCm39) |
M259V |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,248 (GRCm39) |
D471G |
probably 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 |
|
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 |
|
|
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'- CTGTTGGCAGATGAGGACTG -3'
Sequencing Primer
(F):5'- AGGAGTCCGATTCCCAGCAC -3'
(R):5'- AGATGAGGACTGCCCGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation