Incidental Mutation 'R6771:Flg'
| ID |
532162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flg
|
| Ensembl Gene |
ENSMUSG00000102439 |
| Gene Name |
filaggrin |
| Synonyms |
profilaggrin, ft, fillagrin |
| MMRRC Submission |
044887-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R6771 (G1)
|
| Quality Score |
136.008 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93180853-93200996 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 93195630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050758]
[ENSMUST00000178695]
[ENSMUST00000178752]
[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: 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 |
unknown
Transcript: ENSMUST00000179250
AA Change: S77P
|
| SMART Domains |
Protein: ENSMUSP00000141513
Gene: ENSMUSG00000102439
AA Change: S77P
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
| Validation Efficiency |
95% (37/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
| Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
| Apol8 |
A |
T |
15: 77,637,258 (GRCm39) |
|
probably null |
Het |
| Arvcf |
A |
G |
16: 18,222,614 (GRCm39) |
T792A |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
| Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
| C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
| Clmn |
A |
G |
12: 104,740,041 (GRCm39) |
V962A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
| Cyb5a |
T |
A |
18: 84,889,755 (GRCm39) |
H61Q |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,140,366 (GRCm39) |
K801E |
probably damaging |
Het |
| Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
| Ighv2-9 |
T |
G |
12: 113,842,807 (GRCm39) |
S87R |
probably damaging |
Het |
| Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
| Marchf8 |
T |
C |
6: 116,379,004 (GRCm39) |
S313P |
probably benign |
Het |
| Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
| Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
| Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
| Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
| Or7g35 |
C |
T |
9: 19,496,675 (GRCm39) |
L281F |
probably benign |
Het |
| Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,018,222 (GRCm39) |
|
probably null |
Het |
| Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Sp110 |
C |
T |
1: 85,520,000 (GRCm39) |
|
probably null |
Het |
| Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
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 |
|
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 |
|
|
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'- CTCCGGATACTACTATGAGCAAG -3'
(R):5'- GACTCCAGAATGGACATGGCTG -3'
Sequencing Primer
(F):5'- AGGAGTCCGATTCCCAGCAC -3'
(R):5'- ACATGGCTGTCACTGGACTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation