Incidental Mutation 'R4207:Flg'
| ID |
318954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flg
|
| Ensembl Gene |
ENSMUSG00000102439 |
| Gene Name |
filaggrin |
| Synonyms |
profilaggrin, ft, fillagrin |
| MMRRC Submission |
041036-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R4207 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
93180853-93200996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93187169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 207
(Y207C)
|
| 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 benign
Transcript: ENSMUST00000148311
AA Change: Y207C
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141768
Gene: ENSMUSG00000081977
AA Change: Y207C
| 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 benign
Transcript: ENSMUST00000180308
AA Change: Y207C
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142003
Gene: ENSMUSG00000102439
AA Change: Y207C
| 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
|
| Meta Mutation Damage Score |
0.2078 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
| Acap2 |
T |
A |
16: 30,938,245 (GRCm39) |
N293I |
probably damaging |
Het |
| Adgrg4 |
G |
A |
X: 55,964,109 (GRCm39) |
V1893I |
possibly damaging |
Het |
| Aff1 |
T |
C |
5: 103,966,854 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
A |
G |
11: 4,981,637 (GRCm39) |
D515G |
probably damaging |
Het |
| Brk1 |
T |
C |
6: 113,592,805 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Cand1 |
T |
C |
10: 119,047,750 (GRCm39) |
D580G |
probably damaging |
Het |
| Casp4 |
A |
G |
9: 5,328,451 (GRCm39) |
D311G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ctnnd2 |
G |
T |
15: 30,972,973 (GRCm39) |
V1033F |
probably damaging |
Het |
| Dhx29 |
G |
T |
13: 113,064,483 (GRCm39) |
A53S |
probably benign |
Het |
| Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
| Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,400,024 (GRCm39) |
V592A |
probably damaging |
Het |
| Elovl7 |
A |
T |
13: 108,419,040 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Fcgr3 |
T |
A |
1: 170,881,644 (GRCm39) |
K160N |
probably benign |
Het |
| Fmn2 |
A |
G |
1: 174,409,521 (GRCm39) |
T585A |
unknown |
Het |
| Gm7135 |
T |
C |
1: 97,397,620 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8104 |
G |
T |
14: 42,959,091 (GRCm39) |
D94Y |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Kbtbd4 |
T |
C |
2: 90,740,099 (GRCm39) |
F495L |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
| Mthfsd |
A |
G |
8: 121,832,365 (GRCm39) |
V133A |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,222,046 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
A |
7: 49,246,979 (GRCm39) |
I2168N |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,548 (GRCm39) |
D644V |
possibly damaging |
Het |
| Oplah |
C |
T |
15: 76,186,910 (GRCm39) |
R635H |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,253 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,434 (GRCm39) |
L199P |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,835 (GRCm39) |
I15M |
probably benign |
Het |
| Peli1 |
A |
G |
11: 21,097,115 (GRCm39) |
|
probably null |
Het |
| Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 175,821,441 (GRCm39) |
T242P |
probably damaging |
Het |
| Rbm5 |
A |
G |
9: 107,627,682 (GRCm39) |
S420P |
probably benign |
Het |
| Rhag |
A |
T |
17: 41,142,544 (GRCm39) |
I250F |
probably damaging |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| Scaf4 |
C |
T |
16: 90,057,103 (GRCm39) |
V83I |
unknown |
Het |
| Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
| Slc5a8 |
G |
T |
10: 88,747,275 (GRCm39) |
L409F |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,429,187 (GRCm39) |
V199E |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,455,227 (GRCm39) |
T3030A |
probably benign |
Het |
| Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
| Stk39 |
G |
T |
2: 68,051,264 (GRCm39) |
T527K |
probably benign |
Het |
| Sult2a1 |
T |
A |
7: 13,535,472 (GRCm39) |
T194S |
probably benign |
Het |
| Tamm41 |
AGGG |
AGG |
6: 114,989,320 (GRCm39) |
|
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,178,341 (GRCm39) |
V106I |
probably damaging |
Het |
| Vmn2r85 |
A |
C |
10: 130,254,574 (GRCm39) |
C703W |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,404,523 (GRCm39) |
V556M |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,079 (GRCm39) |
I2322V |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,766,142 (GRCm39) |
E93G |
probably damaging |
Het |
| Zfp81 |
C |
T |
17: 33,553,890 (GRCm39) |
C308Y |
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 |
|
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'- ATCTTAGACGGAGGCATGGTG -3'
(R):5'- CCTTCAGAGTCACTGTTGTCTG -3'
Sequencing Primer
(F):5'- CGGAGGCATGGTGGAACTG -3'
(R):5'- AGAGTCACTGTTGTCTGCCTGAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation