Incidental Mutation 'R8322:Flg'
| ID |
642000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flg
|
| Ensembl Gene |
ENSMUSG00000102439 |
| Gene Name |
filaggrin |
| Synonyms |
profilaggrin, ft, fillagrin |
| MMRRC Submission |
067798-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R8322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93180853-93200996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93191639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 11
(Y11H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178008]
[ENSMUST00000178695]
[ENSMUST00000178752]
[ENSMUST00000179250]
[ENSMUST00000179477]
[ENSMUST00000180308]
|
| AlphaFold |
no structure available at present |
| 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 |
unknown
Transcript: ENSMUST00000178695
AA Change: Y11H
|
| SMART Domains |
Protein: ENSMUSP00000141392
Gene: ENSMUSG00000102439
AA Change: Y11H
| 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: 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 |
probably benign
Transcript: ENSMUST00000180308
|
| SMART Domains |
Protein: ENSMUSP00000142003
Gene: ENSMUSG00000102439
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,199,219 (GRCm39) |
S209G |
probably benign |
Het |
| Aars1 |
T |
C |
8: 111,772,160 (GRCm39) |
L450P |
possibly damaging |
Het |
| Acsbg1 |
G |
A |
9: 54,523,268 (GRCm39) |
T453M |
probably benign |
Het |
| Aff3 |
A |
G |
1: 38,220,742 (GRCm39) |
S1100P |
possibly damaging |
Het |
| B4galt5 |
G |
A |
2: 167,190,849 (GRCm39) |
A35V |
probably benign |
Het |
| C1qtnf1 |
T |
C |
11: 118,338,683 (GRCm39) |
S118P |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,705,628 (GRCm39) |
E206D |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,725,993 (GRCm39) |
L3066P |
probably damaging |
Het |
| Cers3 |
T |
G |
7: 66,439,386 (GRCm39) |
L299R |
probably damaging |
Het |
| Cfhr2 |
G |
T |
1: 139,738,696 (GRCm39) |
H288Q |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,496,472 (GRCm39) |
M278K |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,456,537 (GRCm39) |
E166G |
probably damaging |
Het |
| Ctsd |
T |
A |
7: 141,939,197 (GRCm39) |
D76V |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,610,003 (GRCm39) |
F472L |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,454,635 (GRCm39) |
D118E |
probably damaging |
Het |
| Dusp29 |
A |
T |
14: 21,752,950 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif2ak3 |
C |
A |
6: 70,855,903 (GRCm39) |
R236S |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,259,260 (GRCm39) |
T439A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,667,618 (GRCm39) |
I792L |
probably benign |
Het |
| Fzd7 |
T |
C |
1: 59,522,242 (GRCm39) |
S42P |
probably benign |
Het |
| Gimap3 |
A |
G |
6: 48,742,370 (GRCm39) |
S187P |
possibly damaging |
Het |
| Gli1 |
C |
A |
10: 127,167,477 (GRCm39) |
R592L |
probably damaging |
Het |
| Glt8d2 |
A |
T |
10: 82,498,037 (GRCm39) |
I124N |
probably damaging |
Het |
| Hbp1 |
C |
T |
12: 31,983,387 (GRCm39) |
D356N |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,986,373 (GRCm39) |
S367P |
probably benign |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Itpr1 |
C |
A |
6: 108,365,190 (GRCm39) |
N880K |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,355,842 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
T |
C |
11: 100,603,116 (GRCm39) |
T39A |
unknown |
Het |
| Kcnk2 |
T |
A |
1: 189,072,046 (GRCm39) |
Q98L |
probably benign |
Het |
| Kcnn4 |
G |
A |
7: 24,083,545 (GRCm39) |
G409S |
probably benign |
Het |
| Klrb1 |
T |
A |
6: 128,690,576 (GRCm39) |
I49F |
probably damaging |
Het |
| Larp4 |
G |
A |
15: 99,908,237 (GRCm39) |
V573I |
probably benign |
Het |
| Lrpprc |
A |
G |
17: 85,047,496 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
A |
G |
1: 9,746,506 (GRCm39) |
S385P |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,440 (GRCm39) |
S152P |
possibly damaging |
Het |
| Obi1 |
A |
T |
14: 104,717,091 (GRCm39) |
D427E |
probably damaging |
Het |
| Or11a4 |
A |
G |
17: 37,536,241 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,414,630 (GRCm39) |
Q832* |
probably null |
Het |
| Pcid2 |
A |
G |
8: 13,128,555 (GRCm39) |
I368T |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,603,437 (GRCm39) |
F492I |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,175,437 (GRCm39) |
Y464H |
|
Het |
| Plekhg5 |
T |
G |
4: 152,189,201 (GRCm39) |
S260R |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,532,005 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
T |
7: 127,072,999 (GRCm39) |
E115D |
probably benign |
Het |
| Rab3gap2 |
A |
T |
1: 184,978,877 (GRCm39) |
N285Y |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,148,386 (GRCm39) |
C609S |
possibly damaging |
Het |
| Rnf123 |
T |
C |
9: 107,945,706 (GRCm39) |
Q360R |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,868,658 (GRCm39) |
T562A |
probably benign |
Het |
| Rundc1 |
G |
A |
11: 101,322,992 (GRCm39) |
G317D |
probably benign |
Het |
| Rusf1 |
C |
T |
7: 127,889,786 (GRCm39) |
R1H |
probably damaging |
Het |
| Slc14a1 |
A |
T |
18: 78,145,656 (GRCm39) |
I426N |
possibly damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc45a3 |
A |
G |
1: 131,905,523 (GRCm39) |
D182G |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,715,728 (GRCm39) |
F1010I |
probably damaging |
Het |
| Tap1 |
A |
G |
17: 34,412,163 (GRCm39) |
E456G |
probably damaging |
Het |
| Tha1 |
A |
T |
11: 117,759,493 (GRCm39) |
V332E |
probably damaging |
Het |
| Tmem18 |
T |
A |
12: 30,638,517 (GRCm39) |
I93N |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,711,767 (GRCm39) |
F2664S |
probably damaging |
Het |
| Tpm3 |
T |
A |
3: 89,981,011 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,255,351 (GRCm39) |
E1615G |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,540,747 (GRCm39) |
T485A |
probably benign |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,886 (GRCm39) |
Y75C |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,575 (GRCm39) |
D184G |
unknown |
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 |
|
|
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 |
|
|
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'- GTCATCATCTGCCAACAGGAGG -3'
(R):5'- AGCTGTGCCCTTGGTTAGAG -3'
Sequencing Primer
(F):5'- ACGACAAGGCCAGGCATCTG -3'
(R):5'- TTGGTTAGAGCCCCGGGAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation